Multi-Course Case Studies in Health Sciences by Laura Banks; Brenda Barth; Robert Balogh; Adam Cole; Mika Nonoyama; Elita Partosoedarso; and Otto Sanchez is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, except where otherwise noted.
1
This project would not have been possible without the Teaching Innovation Fund (TIF) grant from the Centre for Teaching and Learning at Ontario Tech University. This grant funded a project coordinator to oversee case study materials.
These materials would not have been possible without the knowledge and expertise of Ontario Tech University faculty collaborators, including: Drs. Robert Balogh, Laura Banks, Adam Cole, Mika Nonoyama, Elita Partosoedarso, and Otto Sanchez. Their ability to provide feedback and synthesize new ideas contributed to the final version of this publication.
We are grateful to Ms. Brenda Barth, our Project Coordinator at Ontario Tech University, for leading the case study development. We are also thankful to Ms. Jill Thompson, an Indigenous Cultural Advisor at Ontario Tech University, for providing guidance related to the development of our case study family. Lastly, we would like to acknowledge staff from the Open Education Lab at Ontario Tech University, for their assistance in the preparation and publication of this project as an open educational resource.
Thank you to the students employed by the OE Lab for working hard to make this book a reality. Congratulations on your achievement!
Editors: Noopa Kuriakose, Pranjal Saloni, Shreya Patel
Project Managers: Rebecca Maynard, Sarah Stokes
Suggested Attribution for This Work: Banks, L., Barth, B., Balogh, R., Cole, A., Nonoyama, M., Partosoedarso, E., & Sanchez, O. Multi-Course Case Studies in the Health Sciences. OE Lab at Ontario Tech University, 2021, licensed under a CC BY NC SA 4.0 International License, unless otherwise noted.
Ontario Tech University is proud to host the OE Lab – a student-run, staff-managed group that brings content and technological expertise to the timely creation of high quality OER that will be used directly in an Ontario Tech course by Ontario Tech students.
If you adopt this book, you will be using a work created by students as an experiential learning and employment opportunity. Please let us know if you are using this work by emailing oer@ontariotechu.ca.
2
An interactive H5P element has been excluded from this version of the text. You can view it online here:
https://ecampusontario.pressbooks.pub/casestudieshealthsciences/?p=4#h5p-3
In 2020, our team of six (6) faculty collaborators Ontario Tech University received a Teaching Innovation Fund (TIF) grant to develop a multi-course approach to case-based learning in the health sciences. Case studies may prepare students for their future careers by connecting theoretical concepts to community practice with the application of knowledge.
Our team has developed ten (10) interconnected, multidisciplinary cases exploring health and disease across the lifespan in an extended family living in Canada. These cases have been designed for use in multiple undergraduate courses to facilitate scaffolding of student knowledge with increasingly complex case analyses. This novel approach may enable students to apply critical knowledge from a biological, behavioural and sociological perspective into unified clinical situations. As students review the cases, several perspectives should be considered, including:
These case studies have been organized with the following resources available for use:
I
In 1946, Ojibwe parents in Northwestern Ontario brought a son into the world. At the age 6 years he was forcibly removed from his home on the reserve and sent to a Residential school run by a religious organization and given the name ‘Jack’. The school focused on instruction in trades and agriculture. He was often subjected to harsh discipline, malnutrition, poor healthcare, physical, emotional, and sexual abuse, and the deliberate suppression of his culture and language.
Jack recalls that first day; he was loaded onto a bus and drove him to the school. He thought he was just going for a drive for a few hours and would be returning home. That first day after he arrived, he didn’t know what was going on. They gave him clothes and a shower, it was difficult for him to stay there. His parents told him that he was going to a school, but Jack thought it was just going to be for the day, and he would be returning home to his parents and community. When allowed outside to play, the boys were segregated from the girls in the yard.
A typical day at the residential school consisted of waking up at about 6:00 a.m., having breakfast, taking a shower, and then going to church. He remembers praying more than going to school. In the early days when Jack spoke his own language, the teachers would pull his ear and hit him with a ruler. They would make him kneel down in the church as additional punishment for speaking his own language.
If he had stayed with his parents he would have been able to speak the language, understand them and their culture. However, the few times he returned to see his parents and community, he felt like an outsider, unable to understand the language, unable to communicate effectively with his family. Jack would describe his years at the Residential school as bad. It made him scared of regulations and rules. After Jack left the school, he was always getting in trouble with the police due to alcohol consumption. He would get picked up for being drunk and disorderly, and spend a few days in jail.
The thing Jack hated the most about his time at Residential school was the daily showers. They would dry the kids off, and rub powder all over them. Jack did not realize at the time that this was sexual abuse, he and his friends would laugh at teachers rubbing them.
He did not feel like he received a good education from the Residential school. When he first left, he lived on the streets. He found it difficult to gain employment, as his education lacked, and no one wanted to employ an “Indian”. Jack persevered, eventually finding odd jobs over the years. He worked as a farm-hand, in the local lumber yard, and finally got a permanent position working in the mine.
Based on the recorded story of Tim Antoine https://legacyofhope.ca/wherearethechildren/stories/
He met Mary in 1962 at the general store where she worked. He was away working in the mines for a few years, upon his return he rekindled his relationship with Mary and they married in 1969. Jack found a mining job close to home and worked there until he retired. Jack and Mary had two children. Mary attended church regularly with the children, however Jack refused to go with her as it brought back too many painful memories.
Jack often felt he had nothing to offer his children, he had lost his heritage years ago. Of Jack’s two children, he is closest to his daughter Nancy. He encouraged her to play sports, took her fishing and hunting, these were things he felt comfortable doing. Jack’s son, Phillip had no interest in any of these activities.
Jack worked hard to maintain the home that he has shared with his wife for almost 50 years. Over the last 5 years, Jack has been struggling with pain and numbness in his feet which has affected his ability to maintain his home. Jack started doing less and less as time went on due to the pain and numbness.
Jack was diagnosed with Type II diabetes mellitus just before he turned 50. Jack takes short-acting insulin with meals. Mary has been testing Jack’s blood glucose levels and giving him his insulin injections routinely for the last 25 years.
While Mary was in hospital for 7 days, Jack struggled with meal prep, testing his blood glucose levels, and giving himself his insulin injections. As Mary’s discharge from hospital approaches, it is decided that Jack and Mary will move in with Nancy and Paul.
A few days prior to Mary’s discharge, Nancy travels up to the family home to help pack up what her mother and father will need while they stay at her house.
Nancy is shocked at the disrepair of her childhood home and the unkempt look of her father. Nancy quickly assesses that Jack is unwashed, appears to be slightly short of breath (SOB), limping slightly, and there is a strange odor coming from her father.
Jack admits that he has been struggling since Mary went into hospital. He has not been eating or managing his blood sugars and insulin well. He is also embarrassed to admit he has not bathed since Mary has gone due to his inability to access the bathtub safely on his own.
Nancy prepares lunch for Jack and checks his blood glucose levels (12.4 mmol/L). Nancy administers the required amount of insulin and eats their lunch.
After lunch, Nancy helps her father into the bathtub for a shower. Jack’s SOB increases slightly with exertion, he states he feels like his heart is racing and he can’t catch his breath. Nancy takes a radial pulse, and is pretty sure it is 130 BPM. Although Jack is embarrassed that Nancy is helping him, he allows her to help him undress and get into the tub.
As Jack’s socks are removed, the odd odor increases. Nancy now sees the source of that odor, an open, oozing wound on her father’s right foot. After Jack finished bathing, Nancy settled him with a snack and a cup of tea while she went to call his family doctor.
Upon hearing the circumstances Nancy had found her father in, the family physician told Nancy to bring her father into the emergency department of the local hospital. The physician called ahead to let the ED know Jack was coming.
Jack was seen by the emergency physician and diagnosed with new onset of atrial fibrillation. Jack was admitted with a referral to the cardiologist for the newly developed atrial fibrillation and the endocrinologist to provide appropriate care for Jack’s Type II diabetes. A referral was sent for the wound-care nurse.
Nancy was now in a dilemma as both of her parents were in hospital. Her mother was due to be discharged the next day. The plan had been for Nancy to take both of her parents to stay with her while her mother recuperated. She needed to get home to her son, husband and her studies.
Nancy spoke with the discharge planner and explained the situation. Mary would be kept in hospital until Jack was ready for discharge. Nancy then drove back to Toronto, awaiting her parents discharge.
Four days after admission, Jack was ready for discharge. He had explicit discharge instructions for follow-up:
Jack had now been in his daughter’s house for a week and had noticed the tension between Nancy and her husband. He did not understand what was wrong with Sam, but could not help but think they should be able to return the sick child they had adopted, this is not what Nancy and Paul had signed up for.
He constantly felt like a burden with all the care he required and spent most of his time in the room that he and Mary shared. He was concerned about his wife’s recovery and wished that they could just go home.
Since Mary has been ill, Jack has had time to contemplate his life. He felt that if he had not gone to Residential school, he would have been a very different person, and led a very different life. The school took away his birthright, his culture and history. He stopped going back to the reserve to visit family shortly after he got married, as he felt like an outsider. Jack felt that he had let his children down, as he was not able to provide them with the rich heritage of the Ojibwe people.
Jack was often subjected to:
| 5 AM | Bell rings; students rise, wash, & dress |
| 5:30 AM | Breakfast, then prayers |
| 6 – 9 AM | Boys work on farm; girls work in house |
| 9 – 12 PM | School |
| 12 – 1 PM | Lunch & recreation |
| 1 – 3:30 PM | School |
| 3:30 – 6 PM | Work on farm |
| 6 PM | Dinner & prayers |
| Evening | Boys: school in winter; work on farm in summer Girls: learn needlework |
| 9 PM | Bedtime |
Personal or familial residential school attendance is related to health in a multitude of ways. People who attended residential schools generally feel their health or quality of life has been negatively impacted.
General health: poorer overall self-rated health, less likely to seek health care
Physical health: chronic health conditions and infectious diseases
Mental health and emotional well-being: mental distress, depression, addictive behaviour, substance misuse, stress, and suicidal behaviours
Determinants of health can be conceptualized as either historical (distal) or contemporary (proximal). To understand the interconnectedness of these determinants and their combined influence on the general health of Indigenous peoples, one must look into the past.
Occupational health focused on the physical health – respiratory disease, the impact of noise, heat and vibration on the miners’ health. A significant number of miners are experiencing high levels of stress, anxiety, and depression (Centre for Research in Occupational Safety and Health).
Signs and symptoms of type II DM often develop slowly. You can live with type II DM for years and not know it. When signs and symptoms are present, they include:
Type II DM is primarily the result of two interrelated problems:
Insulin is a hormone that comes from the pancreas and regulates how the body uses sugar in the following ways:
| Type | Examples | Appearance | Onset | Peak | Duration |
| Rapid-acting | Apidra (insulin glulisine) | Clear | 10-15 mins | 1-1.5 hrs | 3.5-5 hrs |
| Fiasp (faster-acting insulin aspart) | Clear | 4 mins | 0.5-1.5 hrs | 3-5 hrs | |
| Humalog (insulin lispro) | Clear | 10-15 mins | 1-2 hrs | 3-4.75 hrs | |
| NovoRapid (insulin aspart) | Clear | 9-20 mins | 1-1.5 hrs | 3-5 hrs | |
| Short-acting | Entuzity (insulin regular) | Clear | 15 mins | 4-8 hrs | 17-24 hrs |
| Humulin R, Novolin ge Toronto (insulin regular) | Clear | 30 mins | 2-3 hrs | 6.5 hrs | |
| Long-acting | Basaglar (insulin glargine biosimilar) | Clear | 1.5 hrs | Does not apply | 24 hrs |
| Lantus (insulin glargine U-100) | Clear | 1.5 hrs | Does not apply | 24 hrs | |
| Levemir (insulin detemir U-300) | Clear | 1.5 hrs | Does not apply | 16-24 hrs | |
| Toujeo (insulin glargine U-300) | Clear | 1.5 hrs | Does not apply | Up to 30 hrs | |
| Tresiba (degludec) | Clear | 1.5 hrs | Does not apply | 42 hrs |
For convenience, there are premixed rapid- and intermediate-acting insulin. The insulin will start to work as quickly as the fastest-acting insulin in the combination. It will peak when each type of insulin typically peaks, and it will last as long as the longest-acting insulin.
Examples include:
Glucose – a sugar – is a main source of energy for the cells that make up muscles and other tissue. The use and regulation of glucose includes the following:
In type II DM, this process does not work well. Sugar does not enter the cells, builds up in bloodstream. The beta cells in the pancreas release more insulin. Eventually these cells become impaired.
In type I DM, the immune system mistakenly destroys the beta cells, leaving the body with little to no insulin.
Weight – being overweight or obese is a main risk
Fat distribution – storing fat mainly in the abdomen (men waist >40 inches, women waist >35 inches)
Inactivity – physical activity keeps weight done, and uses up glucose as energy, makes cells more sensitive to insulin
Family history – increases if parent or sibling has type II DM
Race and ethnicity – Black, Hispanic, Indigenous, Asian, Pacific Islanders
Blood lipid levels – increased risk associated with love levels of HDL cholesterol and high levels of triglycerides
Age – increases with age, especially after age 45
Prediabetes – blood sugars higher than normal, but not high enough to be classified as diabetes, if left untreated often progresses to type II DM
Pregnancy-related risks – increases if you develop gestational diabetes or if you give birth to a baby weighing > 9 pounds
Polycystic ovary syndrome – common condition characterized by irregular menstrual periods, excess hair growth and obesity-increases the risk of diabetes
Heart and blood vessel disease – increase risk of heart disease, stroke, hypertension, and atherosclerosis
Neuropathy in limbs – overtime nerves are destroyed, resulting in tingling, numbness, burning pain or eventual loss of feeling. Begins at tips of toes or fingers and gradually spreads
Other nerve damage – damage to heart nerves can contribute to irregular heart rhythms. Digestive nerve damage may lead to nausea, vomiting, diarrhea or constipation. Men, erectile dysfunction.
Kidney disease – may lead to irreversible end-stage kidney disease
Eye damage – cataracts and glaucoma, may damage the blood vessels in the retina
Skin conditions – more susceptible to bacterial and fungal infections
Slow healing – cuts and blisters can become seriously infected, severe damage might require amputation
Hearing impairment
Sleep apnea – obstructive sleep apnea is common, obesity may be the main contributing factor. Not clear if treating sleep apnea improves blood sugar control
Dementia – seems to increase risk of Alzheimer’s disease and other dementia disorders. Poor blood sugar control linked to more-rapid decline in memory and thinking skills
Wagner Ulcer Classification System:
Poor circulation – blood does not flow to feet efficiently, also making ulcers more difficult to heal
Hyperglycemia – can slow healing process
Nerve damage – tingling and pain, decrease or loss of feeling
Irritated or wounded foot – reduced sensitivity results in painless wounds
Wearing inappropriate footwear – may be significant in wound progression
Treatment primarily depends on the stage of the ulcer. Essential to start treatment as soon as possible – helps prevent infection and provides better results sooner
In a normal heart rhythm, a tiny cluster of cells at the sinus node sends out an electrical signal. The signal then travels through the atria to the atrioventricular (AV) node and passes into the ventricles, causing them to contract and pump out blood. In atrial fibrillation, electrical signals fire from multiple locations in the atria (typically pulmonary veins), causing them to beat chaotically. Since the atrioventricular (AV) node doesn’t prevent all of these chaotic signals from entering the ventricles, your heart will beat faster and more irregularly than normal.
Atrial fibrillation may be:
Occasional – paroxysmal A-fib comes and goes, usually lasting for a few minutes to hours. May last up to a week and happen repeatedly.
Persistent – heart rhythm does not go back to normal on its own. Will need treatment; medication or electrical shock to restore normal heart rhythm.
Long-standing persistent – continuous and lasts longer than 12 months.
Permanent – normal heart rhythm cannot be restored. Requires medication to control heart rate and to prevent clots.
Abnormalities or damage to the heart’s structure are the most common cause of A-fib.
Possible causes of A-fib include:
| Rate Control Medications | Rhythm Control Medications |
| Beta blockers (Metroprolol or Bisoprolol) | Amiodarone (Cordarone) |
| Calcium channel blockers (Diltiazem) | Dronedarone (Multaq) |
| Cardiac glycosides (Digitalis) | Flecainide (Tambocor) |
| Propafenone (Rythmol) | |
| Sotalol (Sotacor) |
Electrical Cardioversion – delivering a shock to the heart, like defibrillation but a smaller amount of electricity. Cardioversion is a short-term solution. In most patients, the A-fib comes back.
Catheter Ablation – inserting thin wires into the veins in your groin or neck. The tip of the wire is directed towards the area in your heart that is firing irregular impulses. Once in position, a small jolt of radiofrequency electrical current is delivered to burn out the tiny areas.
Barton, S. S., Anderson, N., & Thommasen, H. V. (2005). The diabetes experiences of Aboriginal people living in a rural Canadian community. Aust J Rural Health, 13(4), 242-246.
Berbudi, A., Rahmadika, N., Tjahjadi, A. I., & Ruslami, R. (2019). Type 2 diabetes and its impact on the immune system. Current Diabetes Review, 16, 442-449.
Betts, J. G., Johnson, E., Young, K. a., Wise, j. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Cardiac Muscle and Electrical Activity, Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. a., Wise, j. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Tissue Injury and Aging, Anatomy and Physiology. OpenStax.
Cowan, K. (2020). How Residential schools led to intergenerational trauma in the Canadian Indigenous population to influence parenting styles and family structures over generations. Canadian Journal of Family and Youth, 12(2), 26-35.
Green, M. E., Shah, B. R., Slater, M., Khan, S., Jones, C. R., & Walker, J. D. (2020). Monitoring, treatment and control of blood glucose and lipids in Ontario First Nations people with diabetes. CMAJ, 192, e937-e945.
Lung, C. W., Wu, F. L., Liao, F., Pu, F., Fan, Y., & Jan, Y. K. (2020). Emerging technologies for the prevention and management of diabetic foot ulcers. Journal of Tissue Viability, 29, 61-68.
Pendsey, S. P. (2010). Understanding diabetic foot. International Journal of Diabetes in Developing Countries, 30(2), 75-79.
Shah, B. R., Slater, M., Frymire, E., Jackline, K., Sutherland, R., Khan, S., . . . Green , M. E. (2020). Use of the health care system by Ontario First Nations people with diabetes: A population based study. CMAJ Open.
Tanaka, H., Tatsumi, K., Matsuzoe, H., Soga, F., Matsumoto, K., & Hirata, K. I. (2020). Association of type 2 diabetes mellitus with the development of new-onset atrial fibrillation with nonischemic dilated cardiomyopathy: Impact of SGLT2 inhibitors. The International Journal of Cardiovascular Imaging.
Normal cardiovascular function
Andrade, J. G., Aguilar, M., Atzema, C., Wyse, D. G., & Macle, L. (2020). The 2020 Canadian Cardiovascular Society/Canadian Health Rhythm Society Comprehensive Guidelines for the Management of Atrial Fibrillation. Canadian Journal of Cardiology, 36(12), 1847-1948. https://doi.org/10.1016/j.cjca.2020.09.001
Barton, S. S., Anderson, N., & Thommasen, H. V. (2005). The diabetes experiences of Aboriginal people living in a rural Canadian community. Aust J Rural Health, 13(4), 242-246. https://doi.org/10.1111/j.1440-1584.2005.00709.x
Berbudi, A., Rahmadika, N., Tjahjadi, A. I., & Ruslami, R. (2020). Type 2 diabetes and its impact on the immune system. Current Diabetes Reviews, 16, 442-449. https://doi.org/10.2174/1573399815666191024085838
Buzuevskaya, N. (2018). The importance of Type 2 diabetes prevention. Open Access Government. https://www.openaccessgovernment.org/importance-type-2-diabetes-prevention/55208
Cowan, K. (2020). How Residential schools led to intergenerational trauma in the Canadian Indigenous population to influence parenting styles and family structures over generations. Canadian Journal of Family and Youth, 12(2), 26-35. https://doi.org/10.29173/cjfy29511
Green, M. E., Shah, B. R., Slater, M., Khan, S., Jones, C. R., & Walker, J. D. (2020). Monitoring, treatment and control of blood glucose and lipids in Ontario First Nations people with diabetes. CMAJ, 192(33), e937-e945. https://doi.org/10.1503/cmaj.191039
Johnson & Johnson. (2019). What is Atrial Fibrillation? Get smart about AFib. https://getsmartaboutafib.net/en-EMEA/hcp/atrial-fibrillation/what-is-atrial-fibrillation
Lung, C. W., Wu, F. L., Liao, F., Pu, F., Fan, Y., & Jan, Y. K. (2020). Emerging technologies for the prevention and management of diabetic foot ulcers. Journal of Tissue Viability, 29(2), 61-68. https://doi.org/10.1016/j.jtv.2020.03.003
MOL. (2019). Workplace health and safety snapshot for Ontario mining sector in 2018. Workplace Safety North. https://www.workplacesafetynorth.ca/news/news-post/workplace-health-and-safety-snapshot-ontario-mining-sector-2018
Paddock, A. (2017). The American Diabetes Association versus Prediabetes and Type 2 Diabetes. Paddock Post. https://paddockpost.com/2017/09/02/the-american-diabetes-association-versus-prediabetes-and-type-2-diabetes/
Pendsey, S. P. (2010). Understanding diabetic foot. International Journal of Diabetes in Developing Countries, 30(2), 75-79. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878694/
Shah, B. R., Slater, M., Frymire, E., Jacklin, K., Sutherland, R., Khan, S., . . . Green , M. E. (2020). Use of the health care system by Ontario First Nations people with diabetes: A population based study. CMAJ Open, 8(2), E313-E318. https://doi.org/10.9778/cmajo.20200043
Society of Obstetricians and Gynaecologists of Canada. (2013). Social determinants of health among First Nations, Inuit, and Metis. Journal of Obstetrics and Gynaecology Canada, 35(6), S13-S23. https://doi.org/10.1016/S1701-2163(15)30703-9
Tanaka, H., Tatsumi, K., Matsuzoe, H., Soga, F., Matsumoto, K., & Hirata, K. I. (2021). Association of type 2 diabetes mellitus with the development of new-onset atrial fibrillation with non-ischemic dilated cardiomyopathy: Impact of SGLT2 inhibitors. The International Journal of Cardiovascular Imaging, 37, 1333-1341. https://doi.org/10.1007/s10554-020-02122-x
The Endocrine Pancreas. (2021). In J. G. Betts, K. A. Young, J. A. Wise, E. Johnson, B. Poe, D. H. Kruse, . . . P. DeSaix, Anatomy and Physiology. Openstax. https://openstax.org/books/anatomy-and-physiology/pages/17-9-the-endocrine-pancreas
The General Synod of the Anglican Church of Canada. (2021). Anglican Residential Schools. The Anglican Church of Canada. https://www.anglican.ca/tr/histories/
Thompson, E. G., Poinier, A. C., Romito, K., Husney, A., Lau, D. C., & O’Brien, R. (2019). Types of Insulin. HealthLink BC. https://www.healthlinkbc.ca/health-topics/aa122570
Waduge, S. (2021). Canada- before drafting HR Resolutions against Sri Lanka – atone for your crime against the Indigenous of Canada. LankaWeb. https://www.lankaweb.com/news/items/2021/03/02/canada-before-drafting-hr-resolutions-against-sri-lanka-atone-for-your-crime-against-the-indigenous-of-canada
Wilk, P., Maltby, A., & Cooke, M. (2017). Residential schools and the effects on Indigneous health and well-being in Canada – A scoping review. Public Health Reviews, 38(8). https://doi.org/10.1186/s40985-017-0055-6
II
Mary was born in 1948 in a small rural town in northern Ontario. After finishing grade eight, she went to work at the local general store to help her family out financially. Jack came into the store once a month when he got paid. Mary and Jack struck up a friendship and later got married.
The early years of their marriage were tough. Mary sensed that Jack had many ‘ghosts’ from his past, which he never spoke of. The few times Mary and Jack went to visit his family, she never felt comfortable or had the feeling that she or Jack were accepted. When she asked Jack about this, he refused to talk about it. So Mary settled into their marriage and worked hard at making a home for her husband and children. They had two children, Phillip and Nancy.
Five years after they got married, Mary and Jack could finally afford to buy their own home. It was a lovely two-story home, with three bedrooms and one bathroom on the second floor. It had a nice big backyard with lots of gardens, which Mary loved to tend. This home was Mary’s pride and joy, and a source of many happy memories for her: this is where she raised her children, took care of her husband, and entertained her lady friends from church. Mary was happy in life as a stay-at-home mother and housewife.
Over the last few years, Mary has been having difficulties with maintaining their home both inside and out. Mary has been slowing down with her indoor and outdoor activities due to joint pain and stiffness. Both of her children have moved far away, and Jack has health issues which affect how much he is able to help Mary with the upkeep of their home.
In 2012, Mary went to see her family physician because the OTC medications she had been taking were no longer relieving her joint pain and stiffness. After a thorough physical examination and some diagnostic tests, Mary was diagnosed with Stage 4 osteoarthritis (OA) and osteoporosis (OP).
Mary’s OA was affecting her mobility and her ability to perform basic activities of daily living (ADLs). Jack assisted Mary as much as possible, but was having some difficulties with his own ADLs. Jack would assist Mary downstairs in the morning. Mary wore an incontinence product as she was unable to get up the stairs to the bathroom in time.
Due to the pain Mary was having from her OA and OP, her physician prescribed hydrocodone for the pain. By 2018, Mary was having increased difficulty with mobility and required a walker. She seldom left the house anymore as getting around proved to be challenging. She missed gardening, going to church, and visiting with her friends.
In the spring of 2018, she experienced a fall in the bathroom, resulting in a fractured right hip. Surgical intervention was required, and Mary had a total right hip arthroplasty. The plan upon discharge from the hospital was that Mary and Jack would move in with Nancy and Paul in the GTA. Mary’s hospital stay was extended due to Jack’s hospitalization.
The weeks that followed Mary’s discharge and subsequent move to her daughter’s home saw Mary become more withdrawn, often spending the day in her pajamas, unwashed and distant from those around her. Mary is struggling with the many changes happening in her and Jack’s life.
| Hand | Hip |
|
|
| Shoulder | Foot |
|
|
| Knee | Spine |
|
|
OA cannot be reversed. However, treatments can reduce pain and improve movement.
| Medication | Typical Dosage |
| Acetaminophen | 650 to 1000 mg QID |
| Celecoxib (Celebrix) | 50 to 400 mg OD |
| Diclofenac/misoprostol (Arthrotec) | 50 mg/200 mcg BID-TID |
| Ibuprofen (OTC) | 400 to 600 mg TID |
| Meloxicam (Mobic) | 7.5 to 15 mg OD |
| Nabumetone | 500 mg BID |
| Naproxen (OTC) (Aleve) | 220 to 440 mg BID |
| Oxaprozin (Daypro) | 1200 mg OD |
| Sulindac (Clinoril) | 150 to 200 mg BID |
Strong medications may be prescribed if OTC medications lose effectiveness:
Typically, there are no symptoms in the early stages of OP.
Mary though the back pain was part of growing old, along with the being a ‘bit shorter’ & the slight stoop in her posture.
Intramembranous ossification follows four steps:
Endochondral ossification follows six steps:
| Modifiable Risks | Non-modifiable Risks |
| Alcohol | Age |
| Smoking | Ethnicity |
| Low body mass index (BMI) | Female gender |
| Poor nutrition | Family history of fractures |
| Eating disorders | Previous fractures |
| Insufficient physical activity | Menopause/hysterectomy |
| Low dietary calcium intake | Hormonal status |
| Vitamin D deficiency | Long-term glucocorticoid therapy |
| Frequent falls | Primary/secondary hypogonadism in men |
Bone fractures:
The type of repair depends on where & how severe the fracture is, displaced bone, age, & underlying health conditions.
Options include:
Immobility may lead to:
It can be challenging to differentiate between typical post-op recovery and depression symptoms.
Depression is a psychological illness that can lead to impaired decision-making, difficulty with day-to-day life, and may lead to physical illness.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Exercise, Nutrition, Hormones, and Bone Tissue. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Synovial Joints. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). The Functions of the Skeletal System. Anatomy and Physiology. OpenStax.
Chow, Y. Y., & Chin, K. Y. (2020). The role of inflammation in the pathogenesis of osteoarthritis. Mediators of Inflammation, 1-19.
Clynes, M. A., Harvey, N. C., Curtis, E. M., Fuggle, N. R., Dennison, E. M., & Cooper C. (2020). The epidemiology of osteoporosis. British Medical Bulletin, 133(1), 105-117.
Ghouri, A., & Conaghan, P. G. (2021). Prospects for therapies in osteoarthritis. Calcified Tissue International, 109, 339-550.
Yang, T. L., Shen, H., Liu, A., Dong, S. S., Zhang, L., Deng, F. Y., Zhao, Q., & Deng, H. W. (2020). A road map for understanding molecular and genetic determinants of osteoporosis. Nature Reviews Endocrinology, 16, 91-103.
Why haven’t we cured arthritis?
Bone Tissue and the Skeletal System. (2013). In J. G. Betts, K. A. Young, J. A. Wise, E. Johnson, B. Poe, D. H. Kruse, . . . P. DeSaix, Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology
CDC. (2020). Osteoarthritis (OA). https://www.cdc.gov/arthritis/basics/osteoarthritis.htm
Chow, Y. Y., & Chin, K. Y. (2020). The role of inflammation in the pathogenesis of osteoarthritis. Mediators of Inflammation, 1-19. https://doi.org/10.1155/2020/8293921
Clynes, M. A., Harvey, N. C., Curtis, E. M., Fuggle, N. R., Dennison, E. M., & Cooper C. (2020). The epidemiology of osteoporosis. British Medical Bulletin, 133(1), 105-117. https://doi.org/10.1093/bmb/ldaa005
Dawson, E. G. (2015). Osteoporosis: The silent thief. Spine Universe. https://www.spineuniverse.com/conditions/osteoporosis/osteoporosis-silent-thief
Ehley, B. (2019). Federal scientists warned of coming opioid crisis in 2006. Politico. https://www.politico.com/story/2019/08/21/federal-scientists-opioid-crisis-1673694
Ghouri, A., & Conaghan, P. G. (2020). Prospects for therapies in osteoarthritis. Calcified Tissue International, 109, 339-350. https://doi.org/10.1007/s00223-020-00672-9
John M. Eisenberg Center for Clinical Decisions and Communications Science (2012). Preventing blood clots after hip or knee replacement surgery or surgery for a broken hip: A review of the research for adults. In: Comparative Effectiveness Review Summary Guides for Consumers. www.ncbi.nlm.nih.gov/books/NBK107165/
Lumen Learning. (nd). Bone Growth and Development. https://courses.lumenlearning.com/wm-biology2/chapter/bone-growth-and-development
Mayo Clinic. (2021). Osteoporosis. https://www.mayoclinic.org/diseases-conditions/osteoporosis/symptoms-causes/syc-20351968
Sinusas, K. (2012). Osteoarthritis: Diagnosis and treatment. American Family Physician, 85(1) 49-56. https://www.aafp.org
Special Advisory Committee on the Epidemic of Opioid Overdoses. (2018). Government of Canada. National report: Apparent opioid-related deaths in Canada. https://www.canada.ca/en/public-health/services/publications/healthy-living/national-report-apparent-opioid-related-deaths-released-march-2018.html
Yang, T. L., Shen, H., Liu, A., Dong, S. S., Zhang, L., Deng , F. Y., Zhao, Q., & Deng, H. W. (2020). A road map for understanding molecular and genetic determinants of osteoporosis. Nature Reviews Endocrinology, 16, 91-103. https://doi.org/10.1038/s41574-019-0282-7
III
Phillip was born in a small town in northern Ontario in 1979 to biracial parents. His father, Jack, was Ojibway, and his mother, Mary, was Anglican. He was six years old when he became a big brother to Nancy. Phillip was known as a ‘sensitive boy’ when he was younger. He did not have any interest in sports, much to his father’s dismay. Phillip loved to spend time with his mother: cuddling on her lap, helping her out in the kitchen, and watching her get ready for parties.
Once Phillip started school, some of the other children bullied him: calling him names, physically pushing him around, and ostracizing him when it came time for teamwork.
As the siblings grew older, Phillip watched his sister Nancy play numerous sports while his father cheered her on and commented to Phillip that “this was what he should be doing if he was a real boy.” Phillip’s self-esteem plummeted. He would often ask himself “what is wrong with me?”
Once he started high school, Phillip felt even more alone and more confused. He was not interested in sports or girls like his classmates. He secretly had a ‘crush’ on another boy at his high school but did not dare to act upon his feelings. By grade 11, Phillip could no longer take the bullying of his schoolmates, the whispers and comments from the small community in which he lived, and the disappointment he saw on his father’s face every day.
At 16, Phillip left his small hometown without a word to anyone, and headed for Toronto. There he soon found a community of individuals that accepted him. It was an exciting time for Phillip, with drinking, drugs, and multiple same-sex partners. This reckless lifestyle continued for many years. His drinking increased and eventually he began using IV drugs. Phillip went from one relationship to another, often having multiple partners at the same time. He had no contact with his family since he left home, and often wondered if they cared where he was and what he was doing. He had called home a number of times, but hung up as soon as someone answered the phone.
It was in the late fall of 2008 that Phillip came down with the “flu”.
Flu-like symptoms can include:
These symptoms lasted a few weeks, but eventually Phillip started feeling better. His close friends were concerned about his weight loss and suggested that he get tested for HIV. Phillip was not concerned because he was feeling better, and thought to himself “I use condoms most times, HIV could not possibly happen to me.” He continued with his reckless lifestyle for another ten years.
Phillip had been feeling unwell again. He had lost even more weight, was tired all the time, and noticed ‘blotches’ on his face and in his mouth.
After three months with no improvement, Phillip went to a local medical clinic for assessment. The attending physician provided testing to confirm his suspicions of HIV/AIDS.
With positive results, Phillip was referred to a specialist trained in treating HIV.
The specialist ordered further testing to determine the stage of the disease and the best treatment options. He ordered other lab tests to check for a number of infections or complications often related to HIV.
Phillip was distraught over the diagnosis and treatment. He felt like this was a death sentence. After much consideration, he decided to reach out to his sister for support.
Nancy was sympathetic, but stated that there was not much she could do to help out as her ‘plate was overflowing’ at present. She did suggest that Phillip could come visit Nancy and her family once a month, but when he found out his parents were living there too, he quickly declined the offer.
Phillip contemplated trying to reach out to his father’s people. He had struggled all his life with feeling like he didn’t belong. Would they accept him?
Phillip is considered a two spirited person (both male and female spirits). Two spirited people were held in high regard. However, due to residential schools and the church’s influence on Indigenous people, many were taught that this type of lifestyle was unacceptable. While many communities would not accept Phillip, many others were now coming around and realizing that rejecting him for his gender and sexuality was not their traditional way. However, if the community was very traditional, Phillip’s drug use could also be a problem.
About three quarters of LGBTQ+ students report having been harassed at school; even worse, 35% have experienced physical assault, and 12% have been the victim of sexual violence at school.
Harassment and assault, especially when it occurs in what should be a safe and supportive setting, can have serious impacts on mental health such as fear, anxiety, depression, and post-traumatic stress disorder (PTSD).
The LGBTQ+ population experiences institutional discrimination in a variety of situations and settings such as the workplace and places of worship.
LGBTQ+ individuals are frequently denied career advancement or equal compensation compared with their gender-conforming peers, and their unemployment rate is double that of the general population.
Discrimination in health care settings endangers LGBTQ+ people’s lives through delays or denials of medically necessary care. Transgender patients may require medical interventions such as hormone therapy and/or surgery.
Other common barriers are discrimination, lack of insurance, lack of cultural competence/sensitivity by health care providers, and socioeconomic barriers such as low income, lack of transportation, and inadequate housing.
Family rejection can also lead to long-lasting psychiatric problems later in life.
Rejected individuals may develop depression and low self-esteem and may turn to alcohol, cigarettes, or drugs, smoking cigarettes to cope.
Many individuals in the LGBTQ+ population have experienced past physical assault and harassment.
Past trauma compounds any current trauma, exacerbating anxiety about future safety, especially in a political climate that feels hostile.
People who identify as LGBTQ+ often experience brief, subtle expressions of hostility or discrimination.
While microaggressions are often associated with racial/ethnic minorities, they can also impact LGBTQ+ and other marginalized populations, and cumulatively they can take a toll on mental and physical health.
LGBTQ+ people who experience microtraumas may not meet diagnosable criteria for PTSD yet suffer tremendously from minority stressors such as from internalized phobia, rejection sensitivity, marginalization, and discrimination both in their personal life and health care settings.
These tests usually involve drawing blood from a vein. Antigens are substances on the HIV virus itself and are usually detectable — a positive test — in the blood within a few weeks after exposure to HIV.
Antibodies are produced by your immune system when it’s exposed to HIV. It can take weeks to months for antibodies to become detectable. The combination antigen/antibody tests can take two to six weeks after exposure to become positive.
These tests look for antibodies to HIV in blood or saliva. Most rapid HIV tests, including self-tests done at home, are antibody tests. Antibody tests can take three to 12 weeks after you’re exposed to become positive.
These tests look for the actual virus in your blood (viral load). They also involve blood drawn from a vein. If you might have been exposed to HIV within the past few weeks, your doctor may recommend NAT. NAT will be the first test to become positive after exposure to HIV.
Determines the stage of the disease & the best treatment options.
CD4 T cells are white blood cells that are specifically targeted and destroyed by HIV. Even if you have no symptoms, HIV infection progresses to AIDS when your CD4 T cell count dips below 200.
This test measures the amount of virus in your blood. After starting HIV treatment the goal is to have an undetectable viral load. This significantly reduces your chances of opportunistic infection and other HIV-related complications.
Some strains of HIV are resistant to medications. This test helps your doctor determine if your specific form of the virus has resistance and guides treatment decisions.
Back, D., & Marzolini, C. (2020). The challenge of HIV treatment in an era of polypharmacy. Journal of the International AIDS Society, 23, e25449.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Development of the Male and Female Reproductive Systems. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Leukocytes and Platelets. Anatomy and Physiology. OpenStax.
Kelly, B. C., Carpiano, R. M., Easterbrook, A., & Parsons, J. T. (2012). Sex and the community: the implications of neighbourhoods and social networks for sexual risk behaviours among urban gay men. Sociology of Health & Illness, 34(7), 1085-1102.
Kodadek, L. M., Peterson, S., Shields, R. Y., German, D., Ranjit, A., Snyder, C., . . . Haider, A. H. (2019). Collecting sexual orientation and gender identity information in the emergency department: The divide between patient and provider perspectives. Emergency Medicine Journal, 36(3), 136-141.
Matthews A., K., Breen, E., & Kittiteerasack, P. (2018). Social determinants of LGBT cancer health inequities. Seminars in Oncology Nursing, 34(1), 12-20.
Mulé, N. J., Ross, L. E., Deeprose, B., Jackson, B. E., Daley, A., Travers, A., & Moore, D. (2009). Promoting LGBT health and wellbeing through inclusive policy development. International Journal for Equity in Health, 8(18), 1-11.
Ryan, C., Jackson, R., Gabel, C., King, A., Masching, R., & Thomas, C. (2020). Successful aging: Indigenous men aging in a good way with HIV/AIDS. Canadian Journal on Aging, 39(2), 305-317.
How close are we to eradicating HIV?
How does your immune system work?
Lesbian, Gay, Bisexual and Transgender Rights in Canada
Protect and Support LGBT People
APA. (2021). Stress & trauma toolkit for treating LGBTQ in a changing political and social environment. https://www.psychiatry.org/psychiatrists/cultural-competency/education/stress-and-trauma/lgbtq
Back, D., & Marzolini, C. (2020). The challenge of HIV treatment in an era of polypharmacy. Journal of the International AIDS Society, 23(2), e25449. https://doi.org/10.1002/jia2.25449
CDC. (2021). About HIV. https://www.cdc.gov/hiv/basics/whatishiv.html
CDC. (2020). What can increase HIV risk? HIV Risk Reduction Tool. https://hivrisk.cdc.gov/can-increase-hiv-risk/
Jeetendra, K. (2020). HIV medication may supplant HCQ in ICMR’s amended COVID-19 treatment convention. Microbioz India. https://microbiozindia.com/hiv-medication-may-supplant-hcq-in-icmrs-amended-covid-19-treatment-convention-report/
Kelly, B. C., Carpiano, R. M., Easterbrook, A., & Parsons, J. T. (2012). Sex and the community: The implications of neighbourhoods and social networks for sexual risk behaviours among urban gay men. Sociology of Health & Illness, 34(7), 1085-1102. https://doi.org/10.1111/j.1467-9566.2011.01446.x
Kodadek, L. M., Peterson, S., Shields, R. Y., German, D., Ranjit, A., Snyder, C., . . . Haider, A. H. (2019). Collecting sexual orientation and gender identity information in the emergency department: The divide between patient and provider perspectives. Emergency Medicine Journal, 36(3), 136-141. https://doi.org/10.1136/emermed-2018-207669
Matthews A., K., Breen, E., & Kittiteerasack, P. (2018). Social determinants of LGBT cancer health inequities. Seminars in Oncology Nursing, 34(1), 12-20. https://doi.org/10.1016/j.soncn.2017.11.001
Mulé, N. J., Ross, L. E., Deeprose, B., Jackson, B. E., Daley, A., Travers, A., & Moore, D. (2009). Promoting LGBT health and wellbeing through inclusive policy development. International Journal for Equity in Health, 8(18), 1-11. https://doi.org/10.1186/1475-9276-8-18
Ryan, C., Jackson, R., Gabel, C., King, A., Masching, R., & Thomas, C. (2020). Successful aging: Indigenous men aging in a good way with HIV/AIDS. Canadian Journal on Aging, 39(2), 305-317. https://doi.org/10.1017/S0714980819000497
Sax, P. E. (2019). HIV and ID Observations. NEJM Journal Watch. https://blogs.jwatch.org/hiv-id-observations/index.php/learning-the-names-of-hiv-drugs-is-horribly-difficult-heres-why/2019/11/03/
Splettstoesser, T. (2013). HIV drug classes [Image] https://commons.wikimedia.org/wiki/File:HIV-drug-classes.svg
Wikipedia. (2021). Signs and symptoms of HIV/AIDS. https://en.wikipedia.org/wiki/Signs_and_symptoms_of_HIV/AIDS
IV
Nancy, born in 1985, was the second child of Mary and Jack. She lived with her parents and older brother, Phillip, in a small rural town in Northern Ontario. She was a very active child, to the point that some would call her a “Tomboy”. Nancy played many sports at school and in local leagues. She was quite competitive. Nancy enjoyed the company of her father, spending many days fishing and hunting with him.
Neither Nancy nor Phillip had many friends at school. They never really felt like they ‘fit in’ with the other kids. She was ‘too white’ for some kids and ‘too native’ for others. When she was younger she was often teased and called names. Between not fitting in and the pressure to fulfill her father’s desires to have an athlete in the family, Nancy pushed herself physically. She felt comfortable in her father’s quiet presence.
When Nancy reached her teenage years, she played basketball, hockey, ran a number of events in track and field, and competed in gymnastics. She loved to win, and had many trophies and ribbons in her bedroom. Her father was very proud of her accomplishments. With these sports taking up much of Nancy’s time, her school grades were average due to competing priorities.
Mary was concerned about her daughter’s health and wellbeing. She often discussed her concerns with Jack, but was dismissed as being overprotective. One day, Nancy’s school called and asked Mary to come and pick her up. Nancy had injured her leg during a 10 km run.
Mary took Nancy to the local emergency department, as Nancy was in considerable pain and unable to bear weight on her left leg. The emergency physician ordered an x-ray of Nancy’s left leg, blood work, and did a physical exam. The diagnosis was a stress fracture of the left tibia.
However, the physician was more concerned about Nancy’s appearance and her story. The physician followed-up with a more comprehensive history from both Nancy and her mother. What come to light was the following:
Based on the clinical findings, the emergency physician diagnosed Nancy with Female Athlete Triad. It was explained to Nancy and her mother as an interrelationship of menstrual dysfunction, low energy availability (with or without an eating disorder), and decreased bone mineral density. It is relatively common among young women who participate in sports, but has the potential to be a serious condition. Diagnosis and treatment are complicated and often require an interdisciplinary team.
Nancy met with all of the healthcare specialists that the emergency physician referred her to, and a multidisciplinary team for Nancy’s case was formed. They were all in agreement that Nancy should refrain from sports until she was cleared for return-to-play.
Her father did not see what all the fuss was about. He urged Nancy to get back to what she loved to do.
Nancy went to all her appointments to satisfy her mother and family doctor. However, she continued to binge and purge behind her mother’s back. She would often skip class to go running.
It took three years of hard work for Nancy to reach a healthy weight, eat well, and have a healthy outlook on exercise and activity. She continued with oligomenorrhea, however.
Nancy went away to university and began to work out and run again. After she graduated, she obtained a financial job in Toronto. She was working out and running twice a day to cope with the stress in her life. It was a lifestyle that she could not give up, and now that she was on her own, she had total control over her body. She was obsessed with maintaining an ‘ideal weight’ and fell back into the binging and purging of food.
She met Paul through mutual friends. They started dating in 2010, eventually marrying in 2012. About two years after they got married, they started talking about having a family. Paul had adopted twin girls from a previous marriage that they saw very infrequently.
Nancy and Paul began trying to conceive in 2013. By 2016, Nancy and Paul had seen fertility specialists. They were not hopeful that Nancy could conceive due to her history and ongoing struggle with exercise and eating, as well as the increased amount of stress in her life.
It was 2019, Nancy was successful in her career, and going to school for her CPA certification. She was relying on Paul to help out around the house, but had some concerns about his use of pain medication. Despite her concerns, Nancy wanted to be a mother and since they had no luck with conceiving or with costly in-vitro fertilization, they decided to adopt. In January 2020, they were notified that a toddler named Sam was available for adoption.
Shortly after Sam arrived to live with them, Jack called and told Nancy that Mary was in hospital. She had fallen and fractured her hip, and would be having a total hip replacement the next day. Jack stated that they would have to come and stay with Nancy and Paul while Mary recuperated from her surgery, as their family home was not suitable for Mary post-operatively. Nancy asked her father about staying with her brother Phillip, but Jack would not consider that as an option.
Nancy had no choice but to book time off work, and arrange for someone to come in and help with Sam, Paul, and the housework while she was away for a few days. She hoped to find the time to continue with her studies while she was away. She was not sure if her parents had internet, so her back-up plan was to go to the local library a few hours each day.
Nancy arrived a few days prior to her mother’s discharge to help pack up what her mother and father would need while they stayed at her house. Instead, she found her father in need of medical attention and brought him into the emergency department at the local hospital, where he was quickly admitted.
Nancy was now in a dilemma as both of her parents were in hospital. Her mother was due to be discharged the next day. The plan had been for Nancy to take both of her parents to stay with her while her mother recuperated. She needed to get home to her son, husband, and her studies.
Nancy spoke with the discharge planner and explained the situation. Mary would be transferred to the Alternative Level of Care Unit until Jack was ready for discharge. Nancy then called her husband Paul to discuss what she should do.
Nancy returned home the next day to prepare for her parents’ arrival. Over the next week, Nancy was consumed by the sheer amount of preparations required.
Meanwhile, Sam required multiple appointments, extra care, monitoring, and a special diet. Paul was not being helpful, instead often being distant with both Nancy and Sam.
To cope with the significant added stress in her life, Nancy fell back into her old behaviours: binge eating, then feeling guilty and purging. She was extremely stressed by all of the decisions she needed to make for her parents and her new son, along with dealing with her husband’s erratic behaviour and narcotics use.
At age 15, Nancy injured her leg during a gymnastics practice.
Many factors can contribute to stress fractures of the shin. Some can be managed and others can not.
Physician will recommend a combination of treatments & lifestyle changes:
The emergency physician was more concerned about Nancy’s appearance & how she injured herself.
A more comprehensive history & examination followed.
Assessment findings:
Based on clinical findings, Nancy was diagnosed with:
Female Athlete Triad
Early detection of athletes at risk is critical.
It is recommended that screening for the Triad be part of the Pre-Participation Physical Evaluation.
The three components of the Triad recover at different rates with the appropriate treatment.
Recovery of energy status is typically observed after days or weeks of increased energy intake and/or decreased energy expenditure.
Recovery of menstrual status is typically observed after months of increased energy intake and/or decreased energy expenditure, which improves energy status.
Recovery of bone mineral density may not be observed until years after recovery of energy status and menstrual status has been achieved. IGF-1, insulin-like growth factor-1.
Eating disorders are persistent eating behaviours that negatively impact your health, emotions, & your ability to function.
Most common eating disorders are:
Certain people may have genes that increase their risk of developing eating disorders. Biological factors, such as changes in brain chemicals, may play a role in eating disorders.
People with eating disorders may have psychological and emotional problems that contribute to the disorder. They may have low self-esteem, perfectionism, impulsive behavior and troubled relationships.
Eating disorders are significantly more likely to occur in people who have parents or siblings who’ve had an eating disorder.
People with an eating disorder often have a history of an anxiety disorder, depression or obsessive-compulsive disorder.
Dieting is a risk factor for developing an eating disorder. Starvation affects the brain and influences mood changes, rigidity in thinking, anxiety and reduction in appetite. There is strong evidence that many of the symptoms of an eating disorder are actually symptoms of starvation. Starvation and weight loss may change the way the brain works in vulnerable individuals, which may perpetuate restrictive eating behaviors and make it difficult to return to normal eating habits.
Whether it’s heading off to college, moving, landing a new job, or a family or relationship issue, change can bring stress, which may increase your risk of an eating disorder.
IVF increases the risk of multiple births if more than one embryo is transferred to your uterus. A pregnancy with multiple fetuses carries a higher risk of early labor and low birth weight than pregnancy with a single fetus does.
Research suggests that IVF slightly increases the risk that the baby will be born early or with a low birth weight.
Use of injectable fertility drugs, such as human chorionic gonadotropin (HCG), to induce ovulation can cause ovarian hyper stimulation syndrome, in which your ovaries become swollen and painful.
Symptoms typically last a week and include mild abdominal pain, bloating, nausea, vomiting and diarrhea. If you become pregnant, however, your symptoms might last several weeks. Rarely, it’s possible to develop a more severe form of ovarian hyper stimulation syndrome that can also cause rapid weight gain and shortness of breath.
The rate of miscarriage for women who conceive using IVF with fresh embryos is similar to that of women who conceive naturally — about 15% to 25% — but the rate increases with maternal age.
Use of an aspirating needle to collect eggs could possibly cause bleeding, infection or damage to the bowel, bladder or a blood vessel. Risks are also associated with sedation and general anesthesia, if used.
About 2% to 5% of women who use IVF will have an ectopic pregnancy — when the fertilized egg implants outside the uterus, usually in a fallopian tube. The fertilized egg can’t survive outside the uterus, and there’s no way to continue the pregnancy.
The age of the mother is the primary risk factor in the development of birth defects, no matter how the child is conceived. More research is needed to determine whether babies conceived using IVF might be at increased risk of certain birth defects.
Although some early studies suggested there may be a link between certain medications used to stimulate egg growth and the development of a specific type of ovarian tumor, more-recent studies do not support these findings. There does not appear to be a significantly increased risk of breast, endometrial, cervical or ovarian cancer after IVF.
Use of IVF can be financially, physically and emotionally draining. Support from counselors, family and friends can help you and your partner through the ups and downs of infertility treatment.
To determine the quantity and quality of your eggs, your doctor might test the concentration of follicle-stimulating hormone (FSH), estradiol (estrogen) and anti-mullerian hormone in your blood during the first few days of your menstrual cycle. Test results, often used together with an ultrasound of your ovaries, can help predict how your ovaries will respond to fertility medication.
If not done as part of your initial fertility evaluation, your doctor will conduct a semen analysis shortly before the start of an IVF treatment cycle.
You and your partner will both be screened for infectious diseases, including HIV.
Your doctor might conduct a mock embryo transfer to determine the depth of your uterine cavity and the technique most likely to successfully place the embryos into your uterus.
Your doctor will examine the inside lining of the uterus before you start IVF. This might involve a sonohysterography — in which fluid is injected through the cervix into your uterus — and an ultrasound to create images of your uterine cavity. Or it might include a hysteroscopy — in which a thin, flexible, lighted telescope (hysteroscope) is inserted through your vagina and cervix into your uterus.
Important questions to discuss prior to beginning a cycle of IVF:
At the start of a cycle, synthetic hormones are given to stimulate the ovaries to produce multiple eggs-rather than the single egg that normally develops each month.
Multiple eggs are needed, some eggs won’t fertilize or develop normally after fertilization.
Different medications that may be needed:
After the embryo transfer, you can resume normal daily activities. However, your ovaries may still be enlarged. Consider avoiding vigorous activity, which could cause discomfort.
Typical side effects include:
If you develop moderate or severe pain after the embryo transfer, contact your doctor. He or she will evaluate you for complications such as infection, twisting of an ovary (ovarian torsion) and severe ovarian hyperstimulation syndrome.
About 12-14 days after egg retrieval, a blood test will detect whether you are pregnant
Strategies to help manage stress:
Barrack, M. T., Gibbs, J. C., De Souza, M. J., Williams, N. I., Nichols, J. F., Rauh, M. J., & Nattiv, A. (2014). Higher incidence of bone stress injuries with increasing female athlete triad-related risk factors. The American Journal of Sports Medicine, 42(4), 949-958.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Anatomy and Physiology of the Female Reproductive System. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Connective Tissue Supports and Protects. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Metabolism and Nutrition. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Organic Compounds Essential to Human Functioning. Anatomy and Physiology. OpenStax.
Hay, P. (2020). Current approach to eating disorders: A clinical update. Internal Medicine Journal, 50(1), 24-29.
McKenzie, A. B. (2018). The grey zone: Growing up biracial in rural Canada. Journal of Historical Sociology, 31(1) e132-e138.
Tenforde, A. S., Beauchesne, A. R., Borg-Stein, J., Hollander, K., McInnis, K., Kotler, D., & Ackerman, K. E. (2020). Awareness and comfort treating the female athlete triad and relative energy deficiency in sport among healthcare providers. German Journal of Sports Medicine, 71(3), 76-79.
Eating Disorders from the inside out
Eating disorders through developmental, not mental, lens
How in vitro fertilization (IVF) works
The Surprising reason our muscles get tired.
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Lecturio. (2020). Anorexia, bulimia, binge eating: An overview of eating disorders. Lecturio Medical Online Library. https://www.lecturio.com/magazine/anorexia-bulimia-bingeeating
Mallinson, R. J., & De Souza, M. J. (2014). Current perspectives on the etiology and manifestation of the “silent” component of the female athlete triad. International Journal of Women’s Health, 6(1), 451-467. https://doi.org/10.2147/IJWH.S38603
Mayo Clinic. (2018). Eating Disorders. https://www.mayoclinic.org/diseases-conditions/eating-disorders/symptoms-causes/syc-20353603
Mayo Clinic. (2021). In vitro fertilization (IVF). https://www.mayoclinic.org/tests-procedures/in-vitro-fertilization/about/pac-20384716
McKenzie, A. B. (2018). The grey zone: Growing up biracial in rural Canada. Journal of Historical Sociology, 31(1), e132-e138. https://doi.org/10.1111/johs.12198
Pietrangelo, A. (2020). The effects of stress on your body. Healthline. https://www.healthline.com/health/stress/effects-on-body
Tenforde, A. S., Beauchesne, A. R., Borg-Stein, J., Hollander, K., McInnis, K., Kotler, D., & Ackerman, K. E. (2020). Awareness and comfort treating the female athlete triad and relative energy deficiency in sport among healthcare providers. German Journal of Sports Medicine, 71(3), 76-79. https://doi.org/10.5960/dzsm.2020.422
V
Sam was born in 2017, and adopted by Nancy and Paul when he was two. He is a typical toddler: good-natured and very inquisitive. Typically, before the finalization of an adoption, children are required to undergo a routine examination by a physician. However, the required examination is not meant to be a complete health screening, and many conditions are not even checked.
There was little information available about Sam’s biological parents. However, it was known that they died in an automobile accident when Sam’s father suffered a massive heart attack, just before Sam turned 2. In the past two weeks since Sam was adopted, he has done very well adjusting to his new environment. Moreover, he has had all the proper immunizations for his age.
Sam’s adoptive parents have noticed some greasy/oily stools in his diapers. In addition, they are concerned about his wheezing when breathing. Nancy calls her family physician and gets a referral for Sam to see a pediatrician.
The initial visit with the pediatrician consisted of a physical examination, blood work, and a chest x-ray.
The weather was very hot and humid, which made it almost unbearable to be outside. Sam’s parents parked their car and brought Sam into the air-conditioned comfort of the Medical Centre pediatric clinic. Sam appears to be breathing easier once he is in the cool air.
They were immediately seen by the pediatrician, and Nancy expressed her concern over the colour of Sam’s sputum. She was upset that she had forgotten to tell the pediatrician the other day about this fact. The sputum Sam has been coughing up was green and viscid.
While talking with Nancy and Paul about Sam’s sputum, the pediatrician looked over at Sam and noticed a white ‘frosting’ on his face, an indication of salty build-up on the drying edge of sweat. The pediatrician asked Nancy and Paul if they had noticed this salty-build-up before.
“That must be why his skin tastes a bit salty when I kiss him on the cheek,” Nancy replied.
The pediatrician then went over the blood count and chest x-ray results with Nancy and Paul.
After describing the chest x-ray results to them, the pediatrician had a hypothesis about Sam’s condition. To test her hypothesis, the pediatrician ordered a sweat chloride test.
Sam was diagnosed with cystic fibrosis. Nancy and Paul would have to make many adjustments to care for Sam. He would require chest physical therapy, exercise, medications, digestive support, and psychosocial care.
Sam will most likely face significant challenges: frequent hospitalizations, complications such as CF-related diabetes, depression, anxiety, and time-consuming treatment plans that can take 2-3 hours each day.
Sam is a happy, energetic child and fully up to date on his immunizations.
Some Concerns
Nancy & Paul were concerned about the following:
Family physician referred Sam to a pediatrician.
Vital Signs
General Appearance
Head and Neck
Lungs
Cardiovascular
Abdominal
Genitourinary
Extremities
Neurological
Follow-up appointment scheduled for the next day.
When sweat chloride test results fall between the range of 30-59 mmol/L, the sweat test is usually repeated.
Cystic Fibrosis
Newborn screening (NBS) for cystic fibrosis is done in the first few days after birth. By diagnosing CF early, CF health care providers can help parents learn ways to keep their child as healthy as possible and delay or prevent serious, lifelong health problems related to CF.
Research shows that children who receive CF care early in life have better nutrition and are healthier than those who are diagnosed later. Early diagnosis and treatment can:
Newborn screening is done during the first few days of a baby’s life — usually by a health care provider in the hospital. A few drops of blood from a heel prick are placed on a special card, called a Guthrie card.
This card with the baby’s information is mailed to a special state laboratory that will test the blood sample for certain health conditions, including CF. In some states, newborn screening involves two blood samples, one at birth and one a few weeks later.
Respiratory System
Digestive System
Reproductive System
Other Systems
At present there is no cure for CF. Treatment aims at alleviating the symptoms & reducing the incidence of complications. Careful follow-up & early & aggressive intervention is essential. It is advisable to obtain treatment at a centre that specializes in CF.
Nutritional therapy can take care of the malnutrition & vitamin deficiency that is common to CF patients. It involves:
| Disease Modifying Drug | |
| Kalydeco G511D | (ivacaftor) a pill for people ages 6 and older who have the G551D mutation of CF which helps the defective CFTR protein work at the surface of the cell |
| Symptom Management | |
| PULMOZYME (Dornase Alfa) | is an inhaled medication used to help thin the mucus |
| Hypertonic Saline | to draw more water into the airways and make it easier to cough out the mucus. |
| Ibuprofen | anti-inflammatory to slow the rate of lung function decline |
| CREON | pancreatic enzymes to help people with CF digest their food |
| COTAZYM | pancreatic enzymes to help people with CF digest their food |
| FLOVENT | inhaled steroid treatment Open benefit |
| ADVAIR | inhaled steroid treatment for asthma |
| Salbutamol (MDI or Nebules) | bronchodilator |
| Infection Control | |
| CAYSTON | (aztreonam) inhaled antibiotic for the treatment of CF |
| Zithromax (Azithromycin) | is a commonly used antibiotic to treat pneumonia |
| COLY-MYCIN | antibiotic |
| TOBI Podhaler | (tobramycin) inhaled antibiotic with Podhaler device to help fight the germ Pseudomonas aeruginosa |
| TOBI Inhaled Tobramycin 300mg | (tobramycin) inhaled antibiotic to help fight the germ Pseudomonas aeruginosa |
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Embryonic Development of the Respiratory System. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Organs and Structures of the Respiratory System. Anatomy and Physiology. OpenStax.
Ernst, M. M., Johnson, M. C., & Stark, L. J. (2010). Developmental and psychosocial issues in CF. Child Adolesc Psychiatr Clin N Am, 19(2), 263-viii.
Granados, A., & Hughan, K. S. (2020). Cystic fibrosis-related diabetes. Cystic Fibrosis, Respiratory Medicine, 337-354.
Grasemann, H. (2017). CFTR modulator therapy for Cystic Fibrosis. The New England Journal of Medicine, 377(21), 2085-2088.
Lang, R. L., Stockton, K., Wilson, C., & Russell, T. G. (2020). Exercise testing for children with cystic fibrosis: A systematic review. Pediatric Pulmonology, 55, 1996-2020.
Peckham, D., McDermott, M. F., Savic, S., & Mehta, A. (2020). COVID-19 meets cystic fibrosis: For better or worse? Genes & Immunity, 21, 260-262.
Stoltz, D. A., Meyerholz, D. K., & Welsh, M. J. (2015). Origins of cystic fibrosis lung disease. The New England Journal of Medicine, 372(4), 351-364.
Nutrition Pancreatic Enzyme Replacement in People with Cystic Fibrosis
Publicly Funded Immunization Schedules for Ontario 2021
CF Foundation. (nd). Newborn screening for CF. https://www.cff.org/What-is-CF/Testing/Newborn-Screening-for-CF/
CF Foundation. (nd). Sweat Test. https://www.cff.org/What-is-CF/Testing/Sweat-Test
CFF.org. (2015). Cystic fibrosis genetics: Know your CF mutations. http://cysticfibrosis.com/know-your-cf-mutations/
Development and Inheritance. (2013). In J. G. Betts, K. A. Young, J. A. Wise, E. Johnson, B. Poe, D. H. Kruse, . . . P. DeSaiz, Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/28-introduction
Ernst, M. M., Johnson, M. C., & Stark, L. J. (2010). Developmental and psychosocial issues in cystic fibrosis. Child Adolesc Psychiatr Clin N Am., 19(2), 263-283. https://doi.org/10.1016/j.chc.2010.01.004.
Granados, A., & Hughan, K. S. (2020). Cystic fibrosis-related diabetes. Cystic Fibrosis, Respiratory Medicine, 337-353. https://doi.org/10.1007/978-3-030-42382-7_16
Grasemann, H. (2017). CFTR modulator therapy for cystic fibrosis. The New England Journal of Medicine, 377(21), 2085-2090. https://doi.org/10.1056/NEJMe1712335
Henderson, W. (2017). 7 foods for eating well with a chronic lung condition. Cystic Fibrosis News Today. https://cysticfibrosisnewstoday.com/2017/07/20/7-foods-eating-well-chronic-lung-condition
Lang, R. L., Stockton, K., Wilson, C., Russell, T. G, & Johnston, L. M. (2020). Exercise testing for children with cystic fibrosis: A systematic review. Pediatric Pulmonology, 55(8), 1996-2010. https://doi.org/10.1002/ppul.24794
Organs and Structures of the Respiratory System. (2013). In J. G. Betts, P. Desaix, E. Johnson, J. E. Johnson, D. Druse, B. Poe, . . . K. A. Young, Anatomy and Physiology. Houston, Texas: OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/22-1-organs-and-structures-of-the-respiratory-system
Peckham, D., McDermott, M. F., Savic, S., & Mehta, A. (2020). COVID-19 meets cystic fibrosis: For better or worse? Genes & Immunity, 21, 260-262. https://doi.org/10.1038/s41435-020-0103-y
SickKids Staff. (2018). Immunization schedule. About Kids Health. https://www.aboutkidshealth.ca/immunization
Stolz, D. A., Meyerholz, D. K., & Welsh, M. J. (2015). Origins of cystic fibrosis lung disease. The New England Journal of Medicine, 372, 351-362. https://doi.org/10.1056/NEJMra1300109
The Cellular Level of Organization. (2013). In J. G. Betts, P. Desaiz, E. Johnson, J. E. Johnson, O. Korol, D. Kruse, . . . K. A. Young, Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/3-introduction
Venkataraman, L., & Shroff, S. (2021). What is cystic fibrosis? Medindia. https://www.medindia.net/patients/patientinfo/cystic-fibrosis.htm
VI
Hugh was born in 1945 and grew up near Sunnybrook in Toronto. He went to private school and did well in his studies, with the goal of becoming a lawyer. He articled at a prestigious law firm in Toronto where he met Gladys, the daughter of one of the firm’s partners. He joined the law firm once he passed his bar exam and married Gladys shortly after.
Hugh worked long hours and within three years made junior partner. In 1971, he and Gladys’s son, Paul, was born. Hugh continued to work long hours and weekends, often missing out on Paul’s milestones.
Due to the demands of Hugh’s job and the couple’s social status, it was decided that Paul would be sent to boarding school once he started kindergarten.
Hugh and Gladys entertained often, socializing with the elite of Toronto. Rich foods and large amounts of alcohol were an everyday occurrence for this couple.
In 1990, Hugh was seen by his family physician for headaches, vision problems, fatigue, and occasional nose bleeds. Hugh was diagnosed with Stage 2 hypertension (blood pressure 150/90) and given instructions to change his lifestyle.
Hugh was put on a diuretic and angiotensin converting enzyme (ACE) inhibitor. He was able to manage his hypertension with these medications. However, he did not change his lifestyle as recommended by his physician.
In 2011, Hugh retired. Due to her cognitive and physical deterioration, Gladys required his attention. He needed to be home more to facilitate her care. Over time, Gladys had to move into a long-term care institute.
Hugh was now experiencing urinary issues that he had attributed to the normal aging process:
Once again, Hugh decided to see his family physician. Physical examination and mildly elevated serum prostate-specific antigen (PSA) confirmed that Hugh had benign prostatic hyperplasia (BPH). BPH is a common condition as men age. An enlarged prostate gland can cause uncomfortable urinary symptoms, such as urine flow blockage out of the bladder. It can also cause bladder, urinary tract or kidney problems. His physician wanted Hugh to have a routine colonoscopy as Hugh’s fecal immunochemical test (FIT) was back positive.
Given Hugh’s symptoms, he was scheduled for a transurethral resection of the prostate (TURP). A lighted scope is inserted into the urethra, and the surgeon removes all but the outer part of the prostate. TURP generally relieves symptoms quickly, and most men have a stronger urine flow soon after the procedure. After TURP a catheter may be temporarily needed to drain the bladder.
Hugh no longer had urinary issues, was sleeping better, had more energy, and was relieved that it was “nothing much”. Two months after his TURP, Hugh went in for his routine colonoscopy.
A colonoscopy lets a doctor look at the lining of the entire colon and rectum using an endoscope.
Biopsies were taken during the colonoscopy for testing in the lab. The pathologist reported Stage I colon cancer. Hugh required a bowel resection which left him with a colostomy. With Gladys in long-term care, Hugh was living alone. Home care was instructed to teach him proper ostomy care.
Hugh’s self-image was suffering. He did not go out, and was not eating properly due to fear of leakage at the ostomy site. He led a very sedentary life. He also had concerns about the welfare of his son, Brian, who had Down syndrome and lived with Hugh at home: who would look after him once Hugh was gone? Hugh considered reaching out to his older son, Paul, but the two of them had not spoken in years. Ultimately, Hugh was unable to get Paul’s help in caring for Brian and himself.
Instead, Hugh spent time researching institutions where Brian could live. The only option Hugh could see for Brian’s wellbeing was sending him to a home for “people like him.”
The systolic pressure is the higher value and reflects the arterial pressure resulting from the ejection of blood during ventricular contraction, or systole.
The diastolic pressure is the lower value and represents the arterial pressure of blood during ventricular relaxation, or diastole.
| Systolic | Diastolic | |
| Normal | 90 – 129 | 60 – 79 |
| Stage 1 | 130 – 139 | 80 – 89 |
| Stage 2 | 140 – 179 | 90 – 109 |
| Critical | Over 180 | Over 110 |
Under what circumstances is surgery a viable treatment for BPH?
Is divided into stages IIA, IIB, and IIC:
Is divided into stages IIIA, IIIB, and IIIC:
Is divided into stages IVA, IVB, and IVC:
Concerns:
Almost every patient goes through 4 phases of recovery following an accident or illness that results in loss of function of an important part of the body.
The patient and family go through these phases, varying only in the time required for each phase.
Some people may skip certain phases entirely and some may move up and down at different times.
Bakris, G., & Sorrentino , M. (2018). Redefining hypertension – Assessing the new blood-pressure guidelines. The New England Journal of Medicine, 378(6), 497-499.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Blood Flow, Blood Pressure, and Resistance. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013) . Epithelial Tissue. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). The Small and Large Intestine. Anatomy and Physiology. OpenStax.
Schilsky, R. L. (2018). A new IDEA in adjuvant chemotherapy for colon cancer. The New England Journal of Medicine, 378(13), 1242-1246.
Shapiro, C. L. (2018). Cancer survivorship. The New England Journal of Medicine, 379(25), 2438-2450.
Taler, S. J. (2018). Initial treatment of hypertension. The New England Journal of Medicine, 378, 636-644.
How does alcohol make you drunk?
Who’s at risk for colon cancer?
American Heart Association. (nd). Types of Blood Pressure Medications. https://www.heart.org/en/health-topics/high-blood-pressure/changes-you-can-make-to-manage-high-blood-pressure/types-of-blood-pressure-medications
Bakris, G., & Sorrentino , M. (2018). Redefining hypertension – Assessing the new blood-pressure guidelines. The New England Journal of Medicine, 378(6), 497-501. https://doi.org/10.1056/NEJMp1716193
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., . . . DeSaix, P. (2013). Blood flow, blood pressure, and resistance. Anatomy and Physiology. https://openstax.org/books/anatomy-and-physiology/pages/20-2-blood-flow-blood-pressure-and-resistance
Mayo Clinic. (2021). Benign prostatic hyperplasia (BPH). https://www.mayoclinic.org/diseases-conditions/benign-prostatic-hyperplasia/diagnosis-treatment/drc-20370093
National Cancer Institute. (2020). Colon Cancer Treatment (PDQ) – Patient Version. https://www.cancer.gov/types/colorectal/patient/colon-treatment-pdq
Raebel, M. A. (2011). Hyperkalemia associated with use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers. Cardiovascular Therapeutics, 30(3), e156-e166. https://doi.org/10.1111/j.1755-5922.2010.00258.x
Schilsky, R. L. (2018). A new IDEA in adjuvant chemotherapy for colon cancer. The New England Journal of Medicine, 378(13), 1242-1246. https://doi.org/10.1056/NEJMe1800419
Shapiro, C. L. (2018). Cancer survivorship. The New England Journal of Medicine, 379, 2438-2450. https://doi.org/10.1056/NEJMra1712502
Taler, S. J. (2018). Initial treatment of hypertension. The New England Journal of Medicine, 378, 636-644. https://doi.org/10.1056/NEJMcp1613481
United Ostomy Associations of America. (nd). Emotional Concerns. https://www.ostomy.org/emotional-issues/
Urology Care Foundation. (2019). Benign prostatic hyperplasia (BPH). https://www.urologyhealth.org/urology-a-z/b/benign-prostatic-hyperplasia-(bph)
Whitson, L. E. (2016). Histology of the Large Intestine. Human Biology Online Lab. http://humanbiologylab.pbworks.com/w/page/104911948/Organ%20Histology%20of%20Large%20Intestine%20By%3A%20LloEmprise%20Whitson
VII
Gladys was born in 1949 and grew up in the Bridle Path neighbourhood of Toronto. She was an only child whose parents provided her with everything she could ask for. She went to private schools, vacationed in foreign destinations, and never really had any worries.
Gladys met her future husband at a party in 1965 when she was home from school. Hugh was a friend of a friend, and part of Gladys’s socio-economic class. They got to know one another over the summer, and promised to stay in touch while Gladys was away finishing school. Despite her parents’ disapproval over her relationship with Hugh, she married him.
Gladys started smoking when she was 16 years old and continued to smoke over one pack per day until recently. She also continued her tradition of afternoon cocktails throughout her adult life. Gladys did not work outside of the home, hired a cleaning lady to come in once per week, and had a full-time cook. After their son Paul was born, Gladys and Hugh hired a nanny, who stayed with them until Paul started school.
Life was going well until 1989, when Gladys found out that she was pregnant again. Gladys continued to smoke and have afternoon cocktails during both pregnancies. Brian was born in late 1989 and diagnosed with Down syndrome. Shortly after his birth, Brian required a number of surgeries and he remained in hospital for approximately the first year of his life.
Gladys and Hugh visited Brian infrequently during his hospitalization. Brian was discharged home, where he had private care around the clock. Gladys went to see her son once each day, but did not interact with him.
Gladys was diagnosed with stage 2 COPD in 1999 and told to quit smoking. She tried many times without any success. In 2015, her illness worsened and she was prescribed oxygen therapy for stage 3 COPD.
As early as 2010, Hugh started noticing changes in Gladys. She was becoming increasingly forgetful and would often behave in ways that were not normal for her:
Hugh took her to see her family physician who diagnosed Gladys with Alzheimer’s disease.
Reflexes, muscle tone and strength, coordination, balance, ability to sit, stand up, and move around the room, sense of sight, and hearing are all examined to study overall neurological health.
Blood samples are collected to help detect if there are any alternative explanations for memory loss or confusion, such as vitamin deficiency or a thyroid disorder.
Magnetic resonance imaging (MRI): Radio waves and a strong magnetic field are used to produce detailed images of the brain. MRI scans may also show brain shrinkage.
Computerized tomography (CT): It is a specialized X-ray technology that produces cross-section images of the brain.
Positron emission tomography (PET): A low-level radioactive tracer that is injected into the blood to reveal particular features of the brain.
Over the next few years, Gladys continued to deteriorate:
Hugh discussed Gladys’s care with her family physician as he wanted to keep Gladys at home. It was decided that the familiar surroundings of home would be beneficial to Gladys, however additional supervision and care would be necessary.
By 2018, Gladys’ symptoms had become even more severe:
A care conference was called with her primary care team, Hugh and Paul. It was decided that it was best for Gladys to be placed in a long-term care facility. Approximately nine months after admission, Gladys was diagnosed with aspiration pneumonia. The facility’s physician presented Hugh with the options of antibiotics to treat the pneumonia, and a feeding tube to provide Gladys with nutritional input while lowering the risk of aspiration.
Hugh weighed the benefits and risks of these treatment options. Based on what Hugh knew of Gladys’s values, however, he decided to withdraw all treatment and signed a DNR. Two weeks later, Gladys passed away in her sleep.
COPD is diagnosed through pulmonary (or lung) function tests. The most common of these tests is spirometry, which measures the amount of air you can inhale and exhale, and whether your lungs deliver enough oxygen to your blood.
During the test, you blow into a large tube connected to a small machine to measure how much air your lungs can hold and how fast you can blow the air out of your lungs.
Other pulmonary function tests include:
| Pulmonary Function Test | Instrument | Measures | Function |
| Spirometry | Spirometer | Forced vital capacity (FVC) | Volume of air that is exhaled after maximum inhalation |
| Forced expiratory volume (FEV) | Volume of air exhaled during one forced breath | ||
| Forced expiratory flow, 25-75 percent | Air flow in the middle of exhalation | ||
| Peak expiratory flow (PEF) | Rate of exhalation | ||
| Maximum voluntary ventilation (MVV) | Volume of air that can be inspired and expired in 1 minute | ||
| Slow vital capacity (SVC) | Volume of air that can be slowly exhaled after inhaling past the tidal volume | ||
| Total lung capacity (TLC) | Volume of air in the lungs after maximum inhalation | ||
| Functional residual capacity (FRC) | Volume of air left in the lungs after normal expiration | ||
| Residual volume (RV) | Volume of air in the lungs after maximum exhalation | ||
| Total lung capacity (TLC) | Maximum volume of air that the lungs can hold | ||
| Expiratory reserve volume (ERV) | Volume of air that can be exhaled beyond normal exhalation | ||
| Gas diffusion | Blood gas analyzer | Arterial blood gases | Concentration of oxygen and carbon dioxide in the blood |
GOLD stands for the Global Initiative for Chronic Obstructive Lung Disease. The National Heart, Lung, and Blood Institute, National Institutes of Health, and the World Health Organization started it in 1997.
The GOLD system bases the stage of COPD on several things:
Most common risk factors:
Influence of sex on COPD involves several factors:
Moderate exercise can improve:
Exercises help blood circulate, help your heart send oxygen to your body, and strengthen your respiratory muscles.
Pulmonary Rehabilitation consists of education and exercise classes that teach about lungs, the disease, and how to exercise and be more active with less SOB.
Examples include:
Most COPD patients experience feelings of sadness, fear, and worry.
If those feelings start to affect ability to keep up with normal activities and life enjoyment, they may be symptoms of anxiety and depression.
Managing anxiety and depression can increase ability to stick with treatment, improve physical health, and reduce medical costs.
Things to do:
1999 – Diagnosed with COPD
2010 – Cognitive changes – diagnosed with Alzheimer’s disease
2015 – Oxygen therapy for COPD
2018 – Health and wellbeing deteriorated – placed in LTC facility
2019 – Dies due to complications of Alzheimer’s disease
People with AD gradually suffer memory loss and a decline in thinking abilities, as well as major personality changes. These losses in cognitive function are accompanied by changes in the brain, including the build-up of amyloid plaques and tau-containing neurofibrillary tangles, which result in the death of brain cells and the breakdown of the connections between them.
Amyloid plaques and neurofibrillary tangles are the primary hallmarks of Alzheimer’s disease. Plaques are dense deposits of protein and cellular material outside and around the brain’s nerve cells. Tangles are twisted fibers that build up inside the nerve cells. Scientists have known about plaques and tangles since 1906, when a German physician, Dr. Alois Alzheimer, first identified them in the brain of woman who had died after suffering paranoid delusions and psychosis.
Persons with Alzheimer’s may have problems with:
Understand that Alzheimer’s causes changes in communication skills.
Try some tips that may make communication easier:
| Drug Name | Drug Type & Use | How It Works | Common Side Effects | Manufacturer’s Recommended Dosage |
| Aricept® (donepezil) | Cholinesterase inhibitor prescribed to treat symptoms of mild, moderate, and severe Alzheimer’s | Prevents the breakdown of acetylcholine in the brain | Nausea, vomiting, diarrhea, muscle cramps, fatigue, weight loss |
|
| Exelon® (rivastigmine) | Cholinesterase inhibitor prescribed to treat symptoms of mild to moderate Alzheimer’s (patch is also for severe Alzheimer’s) | Prevents the breakdown of acetylcholine and butyrylcholine (a brain chemical similar to acetylcholine) in the brain | Nausea, vomiting, diarrhea, weight loss, indigestion, muscle weakness |
|
| Namenda® (memantine) | N-methyl D-aspartate (NMDA) antagonist prescribed to treat symptoms of moderate to severe Alzheimer’s | Blocks the toxic effects associated with excess glutamate and regulates glutamate activation | Dizziness, headache, diarrhea, constipation, confusion |
|
| Namzaric® (memantine and donepezil) | NMDA antagonist and cholinesterase inhibitor prescribed to treat symptoms of moderate to severe Alzheimer’s | Blocks the toxic effects associated with excess glutamate and prevents the breakdown of acetylcholine in the brain | Headache, nausea, vomiting, diarrhea, dizziness, anorexia |
|
| Razadyne® (galantamine) | Cholinesterase inhibitor prescribed to treat symptoms of mild to moderate Alzheimer’s | Prevents the breakdown of acetylcholine and stimulates nicotinic receptors to release more acetylcholine in the brain | Nausea, vomiting, diarrhea, decreased appetite, dizziness, headache |
|
Hospitalization:
In-hospital death:
Albert, R. K., Au, D. H., Blackford, A. L., Casaburiq, R., Cooper, A., Criner, G. J., . . . Bailey, W. (2016). A randomized trial of long-term oxygen for COPD with moderate desaturation. The New England Journal of Medicine, 375(17), 1617-1627.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). The Respiratory System. Anatomy and Physiology. OpenStax.
Celli, B. R., & Wedzicha, J. A. (2019). Update on clinical aspects of chronic obstructive pulmonary disease. The New England Journal of Medicine, 381, 1257-1266.
Okie, S. (2011). Confronting Alzheimer’s disease. The New England Journal of Medicine, 365(12), 1069-1072.
Pinto, L. M., Gupta, N., Tan, W., Li, P. Z., Benedetti, A., Jones, P. W., & Bourbeau, J. (2014). Derivation of normative data for the COPD assessment test (CAT). Respiratory Research, 15(68), 1-8.
Querfurth, H. W., & LaFerla, F. M. (2011). Mechanisms of Disease: Alzheimer’s disease. The New England Journal of Medicine, 362, 329-344.
Thomashow, B., Crapo, J. D., Yawn, B., McIvor, A., Cerreta, S., Mannino, D., . . . Rennard, S. (2014). The COPD foundation pocket consultant guide. Chronic Obstructive Pulmonary Diseases Journal of the COPD Foundation, 1(1), 83-87.
How do cigarettes affect the body?
Why is pneumonia so dangerous?
Albert, R. K., Au, D. H., Blackford, A. L., Casaburiq, R., Cooper, A., Criner, G. J., . . . Bailey, W. (2016). A randomized trial of long-term oxygen for COPD with moderate desaturation. The New England Journal of Medicine, 375(17), 1617-1627. https://doi.org/10.1056/NEJMoa1604344
American Lung Association. (2021). Managing your COPD medications. https://www.lung.org/lung-health-diseases/lung-disease-lookup/copd/treating/managing-your-copd-medications
Aryal, S., Diaz-Guzman, E., & Mannino, D. M. (2014). Influence of sex on chronic obstructive pulmonary disease risk and treatment outcomes. International Journal of Chronic Obstructive Pulmonary Disease, 9(1), 1145-1154. https://doi.org/10.2147/COPD.S54476
Barnes, P. J., Burney, P. G., Silverman, E. K., Celli, B. R., Vestbo, J., Wedzicha, J. A., & Wouters, E. F. (2015). Chronic obstructive pulmonary disease. Nature Reviews Disease Primers, 1. https://doi.org/10.1038/nrdp.2015.76
Celli, B. R., & Wedzicha, J. A. (2019). Update on clinical aspects of chronic obstructive pulmonary disease. The New England Journal of Medicine, 381, 1257-1266. https://doi.org/10.1056/NEJMra1900500
ElAdawy, A. (2015). Diagnosis and assessment of COPD. https://www.slideshare.net/ashrafeladawy/diagnosis-and-assessment-of-copd
Hoffman, M. (2019). COPD stages and the gold criteria. WebMD. https://www.webmd.com/lung/copd/gold-criteria-for-copd
National Institute on Aging. (2018). How is Alzheimer’s disease treated? https://www.nia.nih.gov/health/how-alzheimers-disease-treated
National Institute on Aging. (2017). Alzheimer’s Caregiving: Changes in Communication Skills. https://www.nia.nih.gov/health/alzheimers-caregiving-changes-communication-skills
National Institute on Aging. (2017). Depression and older adults. https://www.nia.nih.gov/health/depression-and-older-adults
National Institute on Aging. (2017). Managing personality and behavior changes in Alzheimer’s. https://www.nia.nih.gov/health/managing-personality-and-behavior-changes-alzheimers
Okie, S. (2011). Confronting Alzheimer’s disease. The New England Journal of Medicine, 365(12), 1069-1072. https://doi.org/10.1056/NEJMp1107288
Organs and Structures of the Respiratory System. (2013). In J. G. Betts, P. Desaix, E. Johnson, J. E. Johnson, D. Druse, B. Poe, . . . K. A. Young, Anatomy and Physiology. Houston, Texas: OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/22-1-organs-and-structures-of-the-respiratory-system
Patel, H. H. (2019). Is Alzheimer’s disease transmissible? News Medical Life Sciences. https://www.news-medical.net/health/Is-Alzheimers-Disease-Transmissible.aspx
Pinto, L. M., Gupta, N., Tan, W., Li, P. Z., Benedetti, A., Jones, P. W., & Bourbeau, J. (2014). Derivation of normative data for the COPD assessment test (CAT). Respiratory Research, 15(68), 1-8. https://doi.org/10.1186/1465-9921-15-68
Querfurth, H. W., & LaFerla, F. M. (2011). Mechanisms of Disease: Alzheimer’s disease. The New England Journal of Medicine, 362, 329-344. https://doi.org/10.1056/NEJMra0909142
Thomashow, B., Crapo, J. D., Yawn, B., McIvor, A., Cerreta, S., Mannino, D., . . . Rennard, S. (2014). The COPD foundation pocket consultant guide. Chronic Obstructive Pulmonary Diseases Journal of the COPD Foundation, 1(1), 83-87. https://doi.org/10.15326/jcopdf.1.1.2014.0124
VIII
Paul was born to Gladys and Hugh in 1971 and grew up in an affluent area of Toronto. He had a nanny for his early years. Then, when it came time for him to attend school, he was sent away to a local boarding school. He only came home during summer and Christmas vacations. Once he was in high school, Paul was sent away again.
Paul had a large allowance during his high school years which allowed him the freedom to buy whatever he wanted. He started buying alcohol during his senior year when he went out with his friends. He partied a lot and his grades suffered. He did manage to graduate high school, however, and was accepted to a university in Quebec.
The party life continued, but Paul found that alcohol was no longer enough to give him the “high” that he craved. He started smoking marijuana and hashish during his second year at university. He no longer came home for summer vacation and spent that time with friends. By third year, Paul was using cocaine and alcohol on a daily basis. He was also struggling with the birth of his younger brother. In 1993, he dropped out of university before the end of third year, as he was failing all of his courses.
Paul’s parents intervened and sent Paul to a rehabilitation facility. Paul completed the program and went home to his parents. He wandered aimlessly through life over the next number of years, drinking, taking drugs, and revisiting rehabilitation facilities. It was in one of these facilities that he met his first wife in 1999. At the beginning of their relationship, they felt that they truly understood each other and could support each other’s efforts as they both struggled with addictions.
In 2002, Paul and his first wife adopted twin girls: Ella and Olivia. Paul worked odd jobs, but struggled to pay the bills while funding his cocaine habit. Paul’s parents wanted nothing to do with him or his young family. His first wife left him in 2008, taking the girls with her. This seemed to be the wake-up call Paul needed to get his life in order. He joined Narcotics Anonymous in 2009.
Paul was clean and sober for just over a year when he met Nancy. They started dating in 2010. Paul provided Nancy with a full disclosure about his past substance misuse, his previous marriage, and his twin girls. He worked for a construction company and seemed to enjoy it, stating that the physicality of the job helped him to stay clean. Paul and Nancy married in 2012. Shortly after they married, they decided to start trying to conceive. Life was going well for them.
In 2018, Paul had an accident at work, falling from scaffolding 2 stories high. He was taken by ambulance to the local hospital and diagnosed with injury to the ligaments and muscles in his back, along with three torn discs. One of the tears was quite large and required Paul to have a follow-up CT scan in six weeks.
Due to Paul’s history of substance abuse, Flexeril (muscle relaxant) and Ketoprofen (NSAID) were prescribed. He was sent home to rest and recuperate. Paul was not receiving adequate pain management from his prescription medications, so he called his family physician requesting something stronger. After much discussion, Paul’s doctor prescribed Tylenol 3 (acetaminophen 300 mg and codeine 30 mg). Paul was instructed to continue taking his prescribed medications and only take the Tylenol 3 if absolutely necessary. The physician also put the stipulation on the prescription that the pharmacy could only dispense four tablets each day. That meant that Nancy needed to stop by the pharmacy each night on her way home.
Upon arriving home at 7:30 pm on the third day after Paul started the Tylenol 3, Nancy found Paul agitated, sweating, and complaining that his back hurt more. When asked, Paul stated that he had his last Tylenol 3 at 9:00 am. He stated that he had needed them through the night, which left him only one for the day.
Over the next couple of years, Paul struggled with chronic back pain. He started self-medicating with alcohol and any prescription drugs he could get from walk-in clinics, eventually turning to the streets to obtain stronger pain medications. Paul was on long-term disability through WSIB. He was to begin a return to work program in a couple of weeks.
When Nancy’s parents, Jack and Mary, came to stay with them while Mary recovered from her surgery, Paul discovered that Mary had been prescribed Oxycodone-Acetaminophen (2.5 mg-325 mg) for pain. Her physician had prescribed 60 tablets, as she would be out of town for a number of weeks. Paul started sneaking a few pills a day from Mary’s prescription.
It was about two weeks after her parents’ arrival that Nancy noticed that the number of oxycodone tablets was much less than what it should have been. She couldn’t believe that Paul was back to using drugs. Nancy confronted Paul with her suspicions. After arguing for hours, Paul finally confessed to taking the pills.
He stated that he felt overwhelmed with everything going on in his life at the moment:
Despite his relapse, Paul denied having a ‘pill problem.’ Nancy called Paul’s old NA sponsor for suggestions on what to do. Paul was angry at the world, blaming everyone else around him for how his life turned out.
After falling off of a 2 stories in 2018, he was diagnosed with back ligament and muscle injury. He ended up with three torn discs, one being quite large. He had a follow-up CT scan 6 weeks later, where he was told he had prescribed muscle relaxant & NSAID, due to substance abuse history. He did not receive adequate pain management, and Tylenol #3 was prescribed to him only when it became absolutely necessary. He was dispensing stipulation of 4 tablets each day.
Paul’s pack pain continued, was severe and did not improve with rest. He went to see a doctor, where he found out that it could possibly spread down one or both legs, especially if the pain extends below the knee. This causes weakness, numbness or tingling in one or both legs. These symptoms are accompanied by unexplained weight loss, fever, causes new bowel or bladder problems. 
Due to the results of substance abuse, Paul was often agitated, sweating, complaining of back pain. He was self-medicating with alcohol and prescription drugs, first from walk in clinics and eventually from the streets. At this point, he had long term disability. He was taking his mother-in-law’s post-op medications and denied having a “pill problem”. He stated that he was feeling overwhelmed with everything going on in his life.
Drug addiction is an initial decision to take drugs is voluntary. Repeated drug use overwhelms receptor cells and can lead to brain changes that challenge self-control & resist urges. The natural capacity to produce dopamine in the reward center is reduced. Addictive drugs provide a shortcut to the brain’s reward center. Addicts may require higher doses and quicker passage into the brain.
Addictive drugs provide a shortcut to the brain’s reward system by flooding the nucleus accumbens with dopamine. The hippocampus lays down memories of this rapid sense of satisfaction, and the amygdala creates a conditioned response to certain stimuli. The reward system may be more vulnerable, responses to stress more intense, or the formation of addictive habits quicker in some people, especially those suffering from depression, anxiety, or schizophrenia, and those with disorders like antisocial and borderline personality.
Arias-Carrión, O., Stamelou, M., Murillo-Rodriguez, E., Menéndez-González, M., & Pöppel, E. (2010). Dopaminergic reward system: A short integrative review. International Archives of Medicine, 3(24).
Belzak, L., & Halverson, J. (2018). Evidence synthesis – The opioid crisis in Canada: A national perspective. Health Promotion and Chronic Disease Prevention in Canada, 38(6).
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Axial Muscles of the Head, Neck, and Back. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). The Central Nervous System. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). The Vertebral Column. Anatomy and Physiology. OpenStax.
Dassieu, L., Heino, A., Develay, E., Kaboré, J. L., Pagé, M. G., Moor, G., . . . Choinière, M. (2020). “They think you’re trying to get the drug”: Qualitative investigation of chronic pain patients’ health care experiences during the opioid overdose epidemic in Canada. Canadian Journal of Pain, 5(1), 66-80.
The mysterious science of pain
Arias-Carrión, O., Stamelou, M., Murillo-Rodriguez, E., Menéndez-González, M., & Pöppel, E. (2010). Dopaminergic reward system: A short integrative review. International Archives of Medicine, 3(24). https://doi.org/10.1186/1755-7682-3-24
Belzak, L., & Halverson, J. (2018). Evidence synthesis- The opioid crisis in Canada: A national perspective. Health Promotion and Chronic Disease Prevention in Canada, 38(6). https://doi.org/10.24095/hpcdp.38.6.02
Dassieu, L., Heino, A., Develay, E., Kaboré, J. L., Pagé, M. G., Moor, G., . . . Choinière, M. (2020). “They think you’re trying to get the drug”: Qualitative investigation of chronic pain patients’ health care experiences during the opioid overdose epidemic in Canada. Canadian Journal of Pain, 5(1), 66-80. https://doi.org/10.1080/24740527.2021.1881886
European Association for the Study of Obesity. (2020). Study in half a million adults with overweight or obesity suggests benefit of weight loss on serious health problems. Medical Xpress. https://medicalxpress.com/news/2020-09-million-adults-overweight-obesity-benefit.html
Ghauri, M. (2019). 10 surprising facts about the spinal cord. Spine & Pain Clinics of North America. https://www.sapnamed.com/blog/10-surprising-facts-about-the-spinal-cord/
Hyman, S. (2015). The Addicted Brain. St. Andrew’s Abbey. http://ldysinger.stjohnsem.edu/THM_599u_Vir_Vic_Addiction/06_addic_psych_neuro/07_the_addicted_brain-mod_art.htm
Mayo Clinic. (2020). Back Pain. https://www.mayoclinic.org/diseases-conditions/back-pain/symptoms-causes/syc-20369906
NIDA. (2018). Understanding Drug Use and Addiction Drug Facts. https://www.drugabuse.gov/publications/drugfacts/understanding-drug-use-addiction
Smith, M., Robinson, L., & Segal , J. (2020). Overcoming Drug Addiction. HelpGuide. https://www.helpguide.org/articles/addictions/overcoming-drug-addiction.htm
IX
Brian was born in 1989 to affluent parents, Hugh and Gladys, who were in their early forties. Brian also had an older brother, Paul, who was away at boarding school when he was born.
When Gladys found out she was pregnant in her forties, her doctor suggested that Gladys be tested for Down syndrome. Gladys refused to have an amniocentesis done. Brian was diagnosed with Trisomy 21, one of the three types of Down syndrome. The diagnosis was suspected based on Brian’s physical appearance at birth, and confirmed by analysis of his chromosomes.
Gladys and Hugh were devastated by the news that their child was “less than perfect”. At first, they believed that a child with Down syndrome would require too much time and care for their lifestyle. And what would their friends and business associates think? They could not possibly bring this child home. Their view evolved and changed after reading about Down syndrome, learning the benefits of therapies like early intervention, and long discussions with peer groups (e.g. other parents of children with Down syndrome).
Brian had difficulty breathing and the physician noticed Brian had blue-tinged skin, and a heart murmur (an abnormal whooshing sound caused by turbulent blood flow). Several tests were ordered:
Brian was diagnosed with Tetralogy of Fallot, a rare condition caused by a combination of four defects that are present at birth (congenital). These defects cause oxygen-poor blood to flow out of the heart and to the rest of the body.
Tetralogy of Fallot occurs during fetal growth, when the baby’s heart is developing. While factors such as poor maternal nutrition, viral illness, or genetic disorders might increase the risk of this condition, in most cases the cause of Tetralogy of Fallot is unknown.
The lungs of children with Down syndrome do not develop as fully as they do in the general population. Consequently, the growth of blood vessels throughout the lungs is limited. The narrowed arteries of the lungs hold potential for lasting consequences due to the increased pressure and flow of blood through the lungs.
Surgery is the only effective treatment for Tetralogy of Fallot. Brian was two weeks old when he required temporary surgery due to his underdeveloped pulmonary arteries (hypoplastic). A bypass (shunt) was created between a large artery that branches off from the aorta and the pulmonary artery.
After six months, the cardiologist deemed Brian strong enough to undergo ‘intracardiac repair’. This is an open-heart surgery that involves several repairs:
The surgery was a success and Brian was eventually discharged home. He had around-the-clock care which included:
Brian required regular medical follow-up to maintain good health:
Growing up, Brian’s only interactions were with the “hired help”. As a pre-teen and teen, he formed strong bonds with his workers and struggled with changes in staff and routine. This led to frustration and anger.
About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.
Pulmonary valve stenosis is a narrowing of the pulmonary valve — the valve that separates the lower right chamber of the heart (right ventricle) from the main blood vessel leading to the lungs (pulmonary artery).
Narrowing (constriction) of the pulmonary valve reduces blood flow to the lungs. The narrowing might also affect the muscle beneath the pulmonary valve. In some severe cases, the pulmonary valve doesn’t form properly (pulmonary atresia) and causes reduced blood flow to the lungs.
A ventricular septal defect is a hole (defect) in the wall (septum) that separates the two lower chambers of the heart — the left and right ventricles. The hole allows deoxygenated blood in the right ventricle — blood that has circulated through the body and is returning to the lungs to replenish its oxygen supply — to flow into the left ventricle and mix with oxygenated blood fresh from the lungs.
Blood from the left ventricle also flows back to the right ventricle in an inefficient manner. This ability for blood to flow through the ventricular septal defect reduces the supply of oxygenated blood to the body and eventually can weaken the heart.
Normally the aorta branches off the left ventricle. In tetralogy of Fallot, the aorta is shifted slightly to the right and lies directly above the ventricular septal defect.
In this position the aorta receives blood from both the right and left ventricles, mixing the oxygen-poor blood from the right ventricle with the oxygen-rich blood from the left ventricle.
When the heart’s pumping action is overworked, it causes the muscular wall of the right ventricle to thicken. Over time this might cause the heart to stiffen, become weak and eventually fail.
Keep a written record of:
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Development of Blood Vessels and Fetal Circulation. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Fetal Development. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Patterns of Inheritance. Anatomy and Physiology. OpenStax.
Bull, M. J. (2020). Down Syndrome. The New England Journal of Medicine, 382(24), 2344-2352.
Chitty, L. S. (2015). Use of cell-free DNA to screen for Down syndrome. The New England Journal of Medicine, 372(17), 1666-1667.
How the heart actually pumps blood
Sex determination: more complicated than you thought
What happens when your DNA is damaged?
Bull, M. J. (2020). Down Syndrome. The New England Journal of Medicine, 382(24), 2344-2352. https://doi.org/10.1056/NEJMra1706537
Chitty, L. S. (2015). Use of cell-free DNA to screen for Down syndrome. The New England Journal of Medicine, 372(17), 1666-1667. https://doi.org/10.1056/NEJMe1502441
Cure Joy. (2018). Treatment for Down syndrome: 6 alternative therapies and aids to consider. https://curejoy.com/content/down-syndrome-treatment/
Lynch, P. L. (2013). Heart Anatomy. In J. G. Betts, P. Desaix, E. Johnson, J. E. Johnson, O. Korol, D. Kruse, … K. A. Young, Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/19-1-heart-anatomy
Massachusetts General Hospital. (2021). What is translocation Down syndrome? https://www.massgeneral.org/children/down-syndrome/translocation-down-syndrome
Mayo Clinic. (2021). Down syndrome. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
National Center on Birth Defects and Developmental Disabilities. (2021). Facts about Down syndrome. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Physiopedia. (2021). Down syndrome (Trisomy 21). https://www.physio-pedia.com/Down_Syndrome_(Trisomy_21)
X
During his first marriage to an African-Canadian woman, Paul adopted identical twin Asian daughters: Ella and Olivia. The girls were 5 years old when their adopted parents divorced. Since that time, Paul has seen the girls sporadically. Ella is in her first year of university. She is on the bus heading home to spend Thanksgiving and reading week with her mom and sister. She is planning on a quick visit with her dad and his new family during the holidays.
Ella and Olivia used to have so much fun together, but things have changed recently. Ella is worried about Olivia and the serious health troubles she had been having for over a year and a half. Ella can’t help but wonder if these same troubles are heading her way.
Ella stared out the bus window as it traveled down the highway. She recalled last June when her mother shared the fateful news about Olivia: “Olivia has been diagnosed with schizophrenia,” was what her mother had said.
She had known that something was wrong with her sister. Over a year ago, Ella had started to notice changes in Olivia’s behaviour. Olivia had quit a job that she loved. She seemed withdrawn and unmotivated, and had also unexpectedly decided not to attend university despite Ella’s and their mother’s efforts to convince her otherwise. But Ella had left in the summer for university and had not seen the worst of Olivia’s behaviours. Olivia had begun having hallucinations, and could not seem to carry on a coherent conversation in the way that she used to.
Ella had done some research about schizophrenia after hearing of her sister’s diagnosis. She did not like what she found. Apparently, schizophrenia had a tendency to run in families. In fact, studies indicated that a sibling of a schizophrenic was 10 times more likely to develop schizophrenia than the general population. Ella began to worry about her own mental health. She decided she would do some further investigation into the disease once she was home for reading week.
Ella had been home from university for a couple of days and was still preoccupied with Olivia’s diagnosis and her own potential risk for mental illness. Ella expressed her anxiety and concerns to her mother one night after dinner. “Ella,” her mother said, “your concerns are perfectly valid and you have every reason to want to get more information. Why don’t we make an appointment to consult with a psychiatrist?” Ella made the appointment the next day.
Ella left Dr. Jacobson’s office feeling that some of the weight had been lifted from her shoulders. On the car ride home, she thought about the things that Dr. Jacobson had said to her during their consultation.
“It was good of you to come in to see me, Ella. You are absolutely right to have concerns for yourself when your identical twin has been diagnosed with schizophrenia. Research shows that schizophrenia is almost 50% heritable, and since you share nearly identical DNA with your sister, that puts you at a higher risk for developing this disease as well.”
“Fifty percent may sound like a scary number, but remember that schizophrenia is a very complex disease, and 50% of what causes schizophrenia is due to things other than your DNA.”
“Like what? What else could be contributing to Olivia’s schizophrenia that wouldn’t necessarily affect me?” Ella asked.
Dr. Jacobson replied, “There are many, many environmental influences that seem to play a role in the development of this disease, such as increased stress and anxiety, or difficult relationships with other people. Interestingly, there is some research that suggests that the environment itself might even play a role at influencing one’s DNA at the molecular level. It’s a concept called epigenetics. An example of epigenetics in nature is the calico cat. Each calico cat has a unique orange and black fur colour pattern because of alterations, called epigenetic changes, which occur within the cells that produce coat colour during the cat’s development. Research in the field of epigenetics suggests that individuals with schizophrenia appear to have some of these epigenetic changes to their DNA that are due to environmental influences, and that these alterations could be contributing to their development of mental illness.”
“But wouldn’t I also have these ‘epigenetic alterations’ in my DNA?” Ella asked.
“Not necessarily, because you and Olivia have not experienced completely identical environments throughout your lives. For example, you and Olivia have had different teachers and jobs throughout high school. And I also understand that you spent many childhood summers with a friend and her family out in the Rocky Mountains, while your sister was off at swim camps. If you are interested, I can give you some literature to read about this subject.”
Ella was definitely interested. She took the articles and headed home.
Ella felt like she was back in school. The more she read about the topic of epigenetics, the more fascinated she became, and she found herself spending most of her days on the Internet doing research. Ella had learned about genetics in her general biology class and thought she had a pretty good idea of how the Laws of Mendel worked, but this whole field of epigenetics seemed to take the idea of inheritance to another level. She was particularly fascinated by an article that Dr. Jacobson had given her regarding epigenetic differences between identical twins. The article suggested that during one’s lifetime, epigenetic changes occur to one’s DNA that can affect gene expression, and therefore whether or not one will express a certain trait. These epigenetic changes are influenced by one’s environment and behaviors, so despite having identical DNA, identical twins will not always have the same epigenetic changes, and therefore, will not always express the same traits.
Olivia was diagnosed with Schizophrenia. Schizophrenia is classified as a psychotic disorder, in which a person goes into an abnormal state of consciousness. The higher functions of the mind are disrupted. Some combination of a person’s perceptions, thought processes, beliefs, and emotions become disconnected from reality. Symptoms may come and go.
Positive symptoms are those that are present in someone with schizophrenia that someone without schizophrenia or another mental health condition would not experience.
The person is experiencing an absence or reduction of certain traits that are often present in healthier individuals. Feels like something is being taken away or disappearing.
Cognitive symptoms are not used to diagnose schizophrenia.
Genes play an important role in your health; So do your behaviours and environment. Epigenetics is the study of how your behaviours and environment can cause changes that affect the way your genes work. Epigenetic changes are reversible and do not change your DNA sequence. They change how your body reads a DNA sequence. Gene expression refers to how often or when proteins are created from the instructions within your genes. While genetic changes can alter which protein is made, epigenetic changes affect gene expression to turn genes “on” and “off.”
Epigenetic changes affect gene expression in different ways. Types of epigenetic changes include:
DNA methylation works by adding a chemical group to DNA. Typically, this group is added to specific places on the DNA, where it blocks the proteins that attach to DNA to “read” the gene. This chemical group can be removed through a process called demethylation. Typically, methylation turns genes “off” and demethylation turns genes “on.”
DNA wraps around proteins called histones. DNA wrapped tightly around histones cannot be accessed by proteins that “read” the gene. Some genes are wrapped around histones and are turned “off” while some genes are not wrapped around histones and are turned “on.” Chemical groups can be added or removed from histones and change whether a gene is unwrapped or wrapped (“on” or “off”).
Your DNA is used as instructions for making coding and non-coding RNA. Coding RNA is used to make proteins. Non-coding RNA helps control gene expression by attaching to coding RNA, along with certain proteins, to break down the coding RNA so that it cannot be used to make proteins. Non-coding RNA may also recruit proteins to modify histones to turn genes “on” or “off.”
Your epigenetics change as you age, both as part of normal development and aging and in response to your behaviours and environment.
Epigenetic changes begin before you are born. All your cells have the same genes but look and act differently. As you grow and develop, epigenetics helps determine which function a cell will have, for example, whether it will become a heart cell, nerve cell, or skin cell.
Your epigenetics change throughout your life. Your epigenetics at birth is not the same as your epigenetics during childhood or adulthood.
Not all epigenetic changes are permanent. Some epigenetic changes can be added or removed in response to changes in behavior or environment.
Epigenetic changes can affect your health in different ways:
Germs can change your epigenetics to weaken your immune system. This helps the germ survive.
Certain mutations make you more likely to develop cancer. Likewise, some epigenetic changes increase your cancer risk. Epigenetics can be used to help determine which type of cancer a person has or can help to find hard to detect cancers earlier. Epigenetics alone cannot diagnose cancer, and cancers would need to be confirmed with further screening tests.
A pregnant woman’s environment and behavior during pregnancy, such as whether she eats healthy food, can change the baby’s epigenetics. Some of these changes can remain for decades and might make the child more likely to get certain diseases.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Central Processing. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). Patterns of Inheritance. Anatomy and Physiology. OpenStax.
Betts, J. G., Johnson, E., Young, K. A., Wise, J. A., Poe, B., Kruse, D. H., … DeSaix, P. (2013). The Central Nervous System. Anatomy and Physiology. OpenStax.
Boyadjieva, N., & Varadinova, M. (2012). Epigenetics of psychoactive drugs. Journal of Pharmacy and Pharmacology, 64(10), 1349-1358.
Evans, L., Engelman, M., Mikulas, A., & Malecki, K. (2021). How are social determinants of health integrated into epigenetic research? Social Science & Medicine, 273, 1-17.
Xing Tan, T., & Jordan-Arthur, B. (2012). Adopted Chinese girls come of age: Feelings about adoption, ethnic identity, academic functioning, and global self-esteem. Children and Youth Services Review, 34(8), 1500-1508.
What happens when your DNA is damaged?
Basic Medical Key. (2017). Psychosis and schizophrenia. https://basicmedicalkey.com/psychosis-and-schizophrenia/
Boyadjieva, N., & Varadinova, M. (2012). Epigenetics of psychoactive drugs. Journal of Pharmacy and Pharmacology, 64(10), 1349-1358. https://doi.org/10.1111/j.2042-7158.2012.01475.x
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