Activities in ugme tagged with Genetics

Grid focus:Activities
Tagged with: Genetic Diseases, Inborn [C16.320] (MeSH)
Genetic Testing [E01.370.225.562] (MeSH)
Genetic Screening [N02.421.143.827.233.443.125] (MeSH)
Genetic Services [N02.421.308] (MeSH)
Genetic Testing [N02.421.308.430] (MeSH)
Genetic Counseling [N02.421.308.400] (MeSH)
Genetic Techniques [E05.393] (MeSH)
Neoplastic Syndromes, Hereditary [C04.700] (MeSH)
Genetics (Discipline)
Genetics (Basic Sciences)
Genetic Concerns (MCC Presentations)
Genetic Phenomena [G05] (MeSH)
Genetic Processes [G05.355] (MeSH)
Genetic Structures [G05.360] (MeSH)
Genetic Variation [G05.365] (MeSH)
Germ-Line Mutation [G05.365.590.350] (MeSH)
Genetic Predisposition to Disease [G05.380.355] (MeSH)
Sex Determination (Genetics) [G05.355.865] (MeSH)
Epigenesis, Genetic [G05.355.315.203] (MeSH)
Dosage Compensation, Genetic [G05.355.315.203.249] (MeSH)
Genetic Diseases, X-Linked [C16.320.322] (MeSH)
Multifactorial Inheritance [G05.420.590] (MeSH)
Genetics [H01.158.273.343] (MeSH)
Cytogenetics [H01.158.273.343.180] (MeSH)
Immunogenetic Phenomena [G12.500] (MeSH)
Genetics, Medical [H01.158.273.343.315] (MeSH)
Genetic Counseling [H01.158.273.343.315.384] (MeSH)
Pharmacogenetics [H01.158.703.052] (MeSH)
Genetics (Longitudinal Discipline)
Transcription, Genetic [G02.111.873] (MeSH)
Anticipation, Genetic [G05.420.040] (MeSH)
Genetic Testing [E05.393.435] (MeSH)
Genetic Carrier Screening [E05.200.562.250] (MeSH)
Tag method: Match any
Exclusions: Archived (Archived)
= most relevant
Displaying 42 records
Activities Linked ObjectivesCurriculum BlockMCC Presentations

Tutorial: Michelle Broyer MF2 Renal

Part 2, Medical Foundation 2, Renal, Week 1

Ms. Broyer is a 22-year-old female who moved to the local area and enrolled in your practice. Past medical history is significant for several episodes of muscle cramps and intermittent muscle weakness.

General Objectives
Describe the main sites of potassium reabsorption in the nephron.
Describe how potassium secretion by the kidney regulates the serum potassium concentration.
Describe the role of the following in the secretion of potassium by the kidney: aldosterone activity and tubular flow rate
Global Objectives
Upon completion of this problem, students will be able to describe the role of the kidney in electrolyte homeostasis and develop an approach to electrolyte abnormalities.
Part 2
Medical Foundation 2
Renal
Week 1
Hyperkalemia
Chronic Kidney Injury
Hypokalemia
Hyponatremia

Tutorial: Martin Barratt MF2 Renal

Part 2, Medical Foundation 2, Renal, Week 3

Martin Barratt is a 40-year-old male with Autosomal Dominant Polycystic Kidney Disease (ADPKD). He was diagnosed at the age of 15 years when he was found to have bilateral cysts on renal MRI. The diagnosis was confirmed genetically (see attached result) and there is a strong family history of this condition. His mother is on dialysis and maternal grandfather had a kidney transplant and died from a ‘brain bleed’. Martin’s creatinine was elevated for a number of years and was measured at around 350 µmol/L (eGFR 18 ml/min/1.73m2) 3 years ago. Unfortunately, he was lost for nephrology follow up and was recently re-referred by his FD. He is seen by the nephrologist today and complains of fatigue and pruritus. Current medications include allopurinol 75 mg/daily. ROS was significant for erectile dysfunction and recent forearm fracture after a minor fall. He is also worried that his 15-year-old daughter could have the same condition and asks whether she needs to be tested. Physical examination shows a pale, malnourished male with BP of 169/92 mm Hg.

Global Objectives
Upon completion of this problem, the student should be able to discuss the assessment and management of the complications of chronic kidney disease and to illustrate the constraints faced by these patients recognizing the need to modify medication regimens in the face of declining renal function. Students should be able to assess the risk to relatives of a person with an autosomal dominant condition.
Part 2
Medical Foundation 2
Renal
Week 3
Fatigue
Acid-Base Abnormalities
Pruritus
Hypertension
Chronic Kidney Injury

Tutorial: Alexandria Vardalos MF2 Hematology

Part 2, Medical Foundation 2, Hematology, Week 1

You are on elective at a Health Clinic in downtown Hamilton with a multicultural patient population. Your supervisor asks you to see Alexandria Vardalos. Alexandria is an 8-month-old baby girl who is brought in by her parents. She was healthy at birth, but over the last 2 months, she has not been growing as fast as her sister did at the same age. She is frequently irritable and has difficulty feeding. On physical examination, Alexandria is pale, but in no apparent distress. She is afebrile with HR 125, RR 45, BP 90/60 mmHg and oxygen saturation 98% on room air. She is at the 5th percentile for both weight and height. When you palpate her abdomen, you notice that she has an enlarged liver and spleen. Her peripheral blood smear shows microcytosis, hypochromia and poikilocytosis. Hemoglobin electrophoresis shows Hb F 99.2%, Hb A2 0.8%, Hb A 0%. You inform the parents that their baby appears to be anemic and may have an inherited blood disorder. Her mother states: ‘I’m anemic – I inherited it from my mother and her family back in India. I didn’t think our children would get this because my husband’s family is Greek.”

General Objectives
Describe the genetics and molecular structure of hemoglobin, its synthesis and how qualitative and quantitative abnormalities cause disease.
Explain the affinity of various hemoglobins for oxygen and other gases and how it impacts oxygen transport.
Describe the oxygen dissociation curve and the factors that affect it.
Describe the destruction of hemoglobin and bilirubin metabolism especially in relation to hemolytic disorders.
Describe the role of hemoglobin in oxygen transport.
Global Objectives
Upon completion of this problem, students should be able to describe how the structure of hemoglobin impacts on its role in oxygen transport. They should also be able to explain the genetics of autosomal recessive conditions.
Part 2
Medical Foundation 2
Hematology
Week 1
Abdominal masses and pelvic masses
Genetic Concerns
Anemia
Failure To Thrive (Infant, Child)

Tutorial: Ms. LW MF2 Hematology

Part 2, Medical Foundation 2, Hematology, Week 2

Part 1: You are working in the Red Blood Cell Disorders Clinic at McMaster. You are asked to see Ms. LW by your preceptor for routine follow up. Ms. LW is a 43-year-old cisgender woman who was diagnosed with sickle cell disease as a child while living in Guyana. Part 2: It is a few months later and you are on a rotation working in the emergency department. You see Ms. LW’s name on the tracker and remember seeing her in the RBC Disorders Clinic. You pull the triage assessment and read that Ms. LW is presenting with a 2-day history of jaundice and pain in her arms and back, which has been unresponsive to oral hydromorphone at home. Vitals in triage reveal HR 110, BP 110/65, T 36°C, RR 16, SpO2 99% on room air.

General Objectives
Describe the genetics and molecular structure of hemoglobin, its synthesis and how qualitative and quantitative abnormalities cause disease.
Explain the affinity of various hemoglobins for oxygen and other gases and how it impacts oxygen transport.
Describe the normal production and destruction of hemoglobin.
Describe the oxygen dissociation curve and the factors that affect it.
Describe the destruction of hemoglobin and bilirubin metabolism especially in relation to hemolytic disorders.
Describe the inheritance patterns of genetic disorders of hemoglobin, with emphasis on sickle cell disease and thalassemia.
Describe the worldwide epidemiology of sickle cell disease and thalassemia.
Global Objectives
Upon completion of this problem, students should be able to describe how the structure of hemoglobin impacts on its role in oxygen transport. They should also be able to explain the genetics of autosomal recessive conditions.
Part 2
Medical Foundation 2
Hematology
Week 2
Jaundice
Anemia
Non-Articular Musculoskeletal Pain

Tutorial: Shane Mosley MF2 Hematology

Part 2, Medical Foundation 2, Hematology, Week 2

Shane Mosley an 18-month-old boy was brought to the emergency room by the baby sitter for treatment of a swollen and tender right knee that had developed suddenly within the previous three hours. The knee began to swell soon after Shane tripped on the family room carpet. Physical examination reveals an apparently healthy child who is crying and favouring his right leg. The knee is swollen and held in partial flexion. Shane has a few old, superficial bruises over shins, chest wall and his back. The physician in the ER concludes that there is fluid in the knee and because of the sudden onset and absence of fever, thinks this is most likely due to a joint bleed. The physician wonders about an underlying systemic bleeding disorder as the cause of Shane's joint bleed. A complete blood count, "hemostasis screen" and an x-ray of the knee are ordered.

General Objectives
Describe the mechanisms and consequences of coagulation factor deficiencies.
Develop a conceptual approach to diagnosis of bleeding disorders.
Describe the role of the coagulation factors.
Global Objectives
Upon completion of this problem, students should be able to describe the role of coagulation factors in secondary hemostasis. Students should be able to assess the risk to family members of an individual with an X-linked condition.
Part 2
Medical Foundation 2
Hematology
Week 2
Genetic Concerns
Bleeding, Bruising
Bone or Joint Injury

Tutorial: Sana Gupta MF2 Hematology

Part 2, Medical Foundation 2, Hematology, Week 2

Sana is an 18-year-old female who presents to the emergency room with prolonged bleeding following extraction of a wisdom tooth. The extraction was performed earlier that day and she was sent home with packing to be removed 1 hour later. She bled through the packing by the time she got home and has continued to bleed for the past 2 hours. This is her first tooth extraction and she has no previous history of surgical procedures. On questioning, she describes her periods as “heavy”, but her mother and grandmother reported a similar experience so she assumed that was normal. Physical examination reveals constant oozing from the site of extraction, severe edema of her cheek and a large ecchymosis along her jaw line.

General Objectives
Describe the mechanism and consequences of quantitative and qualitative abnormalities of platelets.
Describe the mechanisms and consequences of coagulation factor deficiencies.
Describe the role of coagulation factors and the process of forming a fibrin clot.
Develop a conceptual approach to diagnosis of bleeding disorders.
Describe the role of the coagulation factors.
Global Objectives
Upon completion of this problem, students should be able to describe the role of Von Willebrand Factor in hemostasis and its function in relation to the coagulation cascade. The student should be able to describe causes of variable expression of Von Willebrand disease.
Part 2
Medical Foundation 2
Hematology
Week 2
Bleeding, Bruising

Tutorial: Eva Foster MF2 Hematology

Part 2, Medical Foundation 2, Hematology, Week 3

Mrs. Foster is a 50-year-old female who comes to the ER complaining about some chest discomfort that seems worse when she takes a breath in and shortness of breath. She also feels like her heart is racing. Her past medical history is unremarkable except for mild hypertension. She usually takes an aspirin a day because she heard it was a good idea to take it, but she stopped taking it one week ago when she noticed some blood in her stool. She thinks her mother may have had a blood clot in her leg during one of her pregnancies. Mrs. Foster is married with no children. On physical examination in the emergency room, her HR is 110/min, RR 28/min, BP 122/70, oxygen saturation 86% on room air. Her chest and precordial exam are normal. Her left leg is normal in colour, slightly warm and edematous. The circumference of her left calf is 3 cm larger the circumference of her right calf. She complains of pain when you palpate behind her knee. Her pedal pulses are palpable. The ER staff person calculates her Wells Score and based on the result, orders a D-dimer blood test.

General Objectives
Describe the triggers and steps involved in blood clot formation.
Describe the role of platelets.
Describe the pathogenesis of venous thromboembolic disease.
Describe the physiology and structure of the vascular endothelium.
Describe the role of coagulation factors and the process of forming a fibrin clot.
Develop a conceptual approach to management of venous thromboembolic disease.
Describe the role of the coagulation factors.
Describe the response of the cardiovascular and respiratory systems to venous thrombosis.
Describe the role of the fibrinolytic system.
Global Objectives
Upon completion of this problem, students should be able to describe coagulation and mechanisms of thrombosis.
Part 2
Medical Foundation 2
Hematology
Week 3
Chest Pain
Dyspnea
Localized Edema
Prevention of Venous Thrombosis

Tutorial: Manuel Pereira MF3 Reproduction

Part 3, Medical Foundation 3, Reproduction and Pregnancy, Week 1

Manuel Pereira and his wife have been trying to conceive a child for 16 months. After 12 months of trying, Michelle sought medical advice and so far, her investigations have been negative. You have suggested that since it takes two to make a baby, Manuel should undergo evaluation. Manuel reluctantly attends your clinic. He is quite certain that their inability to conceive can not be "his fault" because he fathered a child, by mistake, when he was 18

General Objectives
Explain the basic science of gametogenesis, conception and implantation of pregnancy.
Identify the testes, epididymis, spermatic cord and how the testis descend during fetal life with a basic understanding of the inguinal canal. Describe the layers which cover both the testes and the spermatic cord. Identify the content of the spermatic cord and understand the course of the vas deferens.
Describe the anatomic and physiologic changes surrounding the onset and cessation of reproductive function in the male and female.
Understand blood supply, lymph drainage and innervation of the testis.
Understand the descend of the testes and the formation of inguinal canal with a focus on direct and indirect inguinal hernia.
Understand the seminal vesicles, its duct and the ejaculatory duct.
Explain the process of gametogenesis.
Identify and understand the prostate, its lobes, blood supply, lymphatic drainage and innervation.
Explain the factors that influence fertility in both the males and females.
Describe the penis (root, body, glans penis and prepuce or foreskin) corpus cavernosum and corpus spongiosum. Identify bulbouretheral glands (cowper's glands), blood supply lymphatic drainage and innervation of the penis.
Understand mechanism of erection and ejaculation.
Global Objectives
Upon completion of this problem, students will have developed an approach to the investigation of male infertility, will understand meiosis and will appreciate the difference between meiosis and mitosis.
Part 3
Medical Foundation 3
Reproduction and Pregnancy
Week 1
Infertility

Tutorial: JoAnne Wright MF3 Reproduction

Part 3, Medical Foundation 3, Reproduction and Pregnancy, Week 3

JoAnne is a 28-year-old G4T1A2L1 Inuk from Baker Lake, Nunavut. Her last menstrual period was February 11. She has a regular, 28-day cycle and had a positive home urine test on March 14. She tells you that she is concerned because she had a DVT in her last pregnancy and was told that she has antiphospholipid antibody syndrome. She has been on warfarin since her son was born 2 years ago. She had 2 miscarriages at 8 and 10 weeks prior to her son being born. She is concerned about the effect of the medicine on her baby and also her risk of developing another clot.

General Objectives
Explain the normal physiological adaptations to pregnancy.
Describe the course of normal pregnancy and common causes of deviation from this course.
Define a teratogen.
Compare and contrast warfarin and low molecular weight heparin to illustrate the effects of a teratogen on the developing fetus.
Global Objectives
Upon completion of this problem, students should have explored teratogenicity in pregnancy using warfarin and low molecular weight heparin as examples.
Part 3
Medical Foundation 3
Reproduction and Pregnancy
Week 3
Indigenous Health
Early Pregnancy Loss / Spontaneous Abortion
Prenatal Care
Prevention of Venous Thrombosis
Concepts of Health and Its Determinants

Tutorial: Rosemary and Tony MF3 Reproduction

Part 3, Medical Foundation 3, Reproduction and Pregnancy, Week 3

Rosemary, a 38-year-old G2A1, is seen with her 42-year-old husband for their first antenatal visit. She is 10 weeks 1 day pregnant by an LMP of January 18th. She is sure of the date and her periods were 4 days every 28-30 days. She states that she is trying to eat quite well because she does not believe in taking vitamins. She says that she tries to have a gluten-free diet. Rosemary had a therapeutic abortion when she was 27. She and her husband are both healthy. She is on no medications. Both of their families are from Ireland and they do not know of any family health problems. Their GP discusses issues regarding the pregnancy with them, including dietary issues and the potential benefits of a prenatal vitamin and an iron supplement. Rosemary’s prenatal bloodwork is normal. She is booked for an ultrasound, which is done at 12 weeks. The ultrasound is normal and shows a single embryo with measurements consistent with her LMP. At 17 weeks, her GP calls to tell her that her IPS test is positive for Down syndrome and she would like the couple to go to the University hospital to discuss their options. They are devastated with the news and do not know what to do as they are both Roman Catholic.

General Objectives
Describe the role of prenatal diagnosis in pregnancy.
Explain the various modalities used in prenatal screening tests and in prenatal diagnostic tests and compare and contrast their sensitivity, specificity and their risks and benefits.
Discuss the ethical, moral and psychological implications of a positive prenatal screening test.
Global Objectives
Upon completion of this problem, students will recognize prenatal screening and diagnosis in reproduction.
Part 3
Medical Foundation 3
Reproduction and Pregnancy
Week 3
Genetic Concerns
Prenatal Care
Congenital Anomalies, Dysmorphic Features

Tutorial: Hannah Rosen Part 1 MF3 Gastroenterology and Nutrition

Part 3, Medical Foundation 3, Gastroenterology and Nutrition, Week 1

Hannah, a 1-year-old girl, is brought to the clinic for a routine immunization by her mother. Mr. and Mrs. Rosen have a healthy 5-year-old boy at home. The pregnancy with Hannah was uneventful and a fetal ultrasound done at 16 weeks gestation was normal. The baby was born by spontaneous vaginal delivery, breathed immediately, and was placed on the breast for mom to nurse. Hannah's birth weight was 3.4 Kg. After seeming to feed normally for 24 hours, Hannah vomited bile and the abdomen was noted to be distended. An x-ray was interpreted as showing a distal small bowel obstruction. Further contrast x-rays of the colon showed a microcolon and inspissated meconium in the proximal colon, making a diagnosis of meconium ileus. Genetic testing confirmed cystic fibrosis. After a lengthy hospitalization to correct the bowel obstruction, Hannah was discharged home receiving exclusive breast milk. At 4 months of age, Hannah was switched to a cow's milk formula. Her mother noticed that she cried a lot. Hannah's mom attributed the symptoms to a milk allergy and progressed through a variety of cow's milk and soy formulae. At present Hannah is taking 1 litre of Rice milk and a small variety of foods daily. She has one small formed stool per day. She weighs 8.5 kg and is 74 cm tall.

General Objectives
Describe the enteral digestion, absorption and metabolism of macronutrients and micronutrients.
Explain the application of the Dietary Reference Intakes (DRIs) in clinical practice, become aware of age-specific nutrient recommendations including the tolerable upper limit (TUL), acceptable macronutrient distribution range (AMDR), and understand where these may be modified during growth, and special physiological states such as infancy, adolescence and high intensity exercise.
Describe an approach to determining nutritional status. This should include assessment of growth, body composition and biochemical measures of nutritional adequacy.
Use reference standards for growth to assess over and under nutrition based on percentile for weight, height and body mass index (BMI).
Global Objectives
Upon completion of this problem, students should have an understanding of fat, carbohydrate and protein requirements as well as the processes of digestion, absorption and metabolism of these macronutrients. The relationship between diet and growth and development in early childhood should be summarized.
Part 3
Medical Foundation 3
Gastroenterology and Nutrition
Week 1
Genetic Concerns
Crying/Fussing Child
Failure To Thrive (Infant, Child)
Newborn Assessment
Pediatric Constipation

Tutorial: James Cork MF3 Gastroenterology and Nutrition

Part 3, Medical Foundation 3, Gastroenterology and Nutrition, Week 2

Dr. James Cork, a 26 year old dentist, has been unwell for over 1 year. During this time he reports he has had diarrhea characterized by four to six loose, bulky stools per day without blood, mucus, or pus. He has been up at least once each night to move his bowels. James has lost 7 kg despite a very good appetite. He has not travelled outside of southern Ontario or been camping. His partner of 7 years, Richard, is in good health and has not suffered any of these symptoms, nor has James been in contact with anyone else with similar symptoms. His family physician found that his hemoglobin is low.

General Objectives
Describe the enteral digestion, absorption and metabolism of macronutrients and micronutrients.
Describe the steps of digestion and absorption and roles of the key organs of the alimentary tract in these processes.
Describe normal gastrointestinal histology.
Describe and understand the small bowel, its length and divisions: duodenum, parts (first, second, third and fourth), duodenal cap or bulb, openings into the duodenum, duodenojejunal junction, ligament of Treitz, blood and nerve supply and its lymph drainage.
Global Objectives
Upon completion of this problem, students will be able to describe the physiology of the small intestine and discuss the pathophysiology of malabsorption.
Part 3
Medical Foundation 3
Gastroenterology and Nutrition
Week 2
Genetic Concerns
Bleeding, Bruising
Chronic Diarrhea
Weight Loss / Eating Disorders / Anorexia

Tutorial: Amanda Porter MF3 Endocrinology

Part 3, Medical Foundation 3, Gastroenterology and Nutrition, Week 4

Amanda, a 12 year old girl, has been accompanied by her mother to see her family doctor for a routine check-up. Her mother is a single mom who works shift work as an R.N. at the local E.R. department. She and Amanda currently reside in a suburban neighbourhood of Hamilton. Amanda attends a public school in her neighbourhood and complains of being constantly teased by her classmates for being "bigger". According to her mom, Amanda participates in gym class, but does not get much more physical activity than that. Amanda spends a lot of time alone while her mother works shifts. She admits to watching approximately 3 hours of television per day on weekdays and 5 hours on the weekends. She is also on the internet, chatting on MSN, for 1-2 hours per day. Her mother is also obese and is not worried about her daughter's current weight or the sedentary lifestyle and is rather pleased that Amanda is a "good girl". Amanda does not express interest in participating in local clubs or extracurricular activities and indicates that she is simply not an "athletic type" of individual.

General Objectives
Use reference standards for growth to assess over and under nutrition based on percentile for weight, height and body mass index (BMI).
Global Objectives
Upon completion of this problem, students will identify genetic and environmental risk factors for childhood obesity and discuss prevention and treatment strategies at the individual and population level.
Part 3
Medical Foundation 3
Gastroenterology and Nutrition
Week 4
Weight Gain, Obesity

Tutorial: Pia Meta MF3 Endocrinology

Part 3, Medical Foundation 3, Endocrinology, Week 2

Pia Meta is a 21-year-old female university student with paroxysmal attacks of palpitations, dizziness, blurring of vision and headache over the past 6 months. Each attack persists for a few minutes to half an hour. They occur irregularly with essentially no warning. She reports that during one of her attacks, she went to the emergency department and was found to have a blood pressure of 210/140 mmHg. She was told that she was having a panic attack. She was previously well and has no significant family history. Pia occasionally consumes alcohol on weekends only. She denies the use of any medications or recreational drugs, particularly methamphetamines or other sympathomimetics. She has one cup of coffee per day unless she is studying for exams, in which case she drinks 2-3 cups per day at most. She lives with roommates with whom she attends McMaster University. She has been performing well at school and has an active social life. On examination in the clinic, she has no abnormal physical findings.

General Objectives
Outline the structure and function of the adrenal gland.
Describe the control of each of the hormones produced by the adrenal gland.
Summarize the clinical manifestations of excess or inadequate production of adrenal hormones, especially with respect to glucocorticoids and catecholamines.
Global Objectives
Upon completion of this problem, students will be able to describe the anatomy and physiology of the adrenal gland. Students will be able to summarize the physiological role of catecholamines and the consequences of catecholamine excess.
Part 3
Medical Foundation 3
Endocrinology
Week 2
Dizziness, Vertigo
Headache
Palpitations

Tutorial: Michel Dupois MF3 Endocrinology

Part 3, Medical Foundation 3, Endocrinology, Week 3

Mr. Dupois is a 35-year-old French-Canadian man born in rural Quebec who moved to Hamilton with his wife a few years ago. His family physician noted a persistent rash around his eyes that he identified as xanthelasma. This prompted some blood tests and a referral to the Lipid Clinic. He is rather reluctant to see you at the Lipid Clinic because he is completely asymptomatic. He denies any significant medical history and is taking no medications. He is a lifelong non-smoker who faithfully walks to work for 1 km with no problems. A family history indicates that Mr. Dupois’ father died suddenly at the age of 46 with no clear explanation. He has multiple family members on his father’s side had a history of heart attacks, some at an unusually young age. His mother is healthy. On physical exam he has soft, velvety, yellowish, non-tender plaques in the palpebral area. Thickening of the Achilles tendons bilaterally were also noted. His blood pressure was 145/90 and waist circumference 98 cm.

General Objectives
Describe the interplay between nutrition and endocrine disease.
Global Objectives
Upon completion of this problem, students will explain how a genetic defect can disturb normal lipoprotein metabolism and increase risk of cardiovascular disease.
Part 3
Medical Foundation 3
Endocrinology
Week 3
Genetic Concerns
Skin and Integument Conditions
Abnormal, Serum Lipids

Tutorial: Awat Khali MF3 Endocrinology

Part 3, Medical Foundation 3, Endocrinology, Week 3

Awat Khali, a 3.2 kg female infant, is born to a 28 year old mother at 41 weeks gestation. The family is Muslim and has recently immigrated from the Kurdish region of Turkey. Her parents are first cousins. Each parent has numerous brothers and sisters and most have already had children. Everybody is reported as healthy and well. At delivery the child is noted to have atypical genital development. The clitoris is prominent, length being approximately 1.5 cm. There is posterior fusion of the labia.

General Objectives
Describe the embryology and physiology of sexual differentiation and explain the possible mechanisms involved in the presentation of ambiguous genitalia.
Explain the impact of mutations of the androgen receptor on sexual phenotype.
Global Objectives
Upon completion of this problem, students should be able to discuss the actions of testosterone and dihydrotestosterone on embryological development and sexual differentiation.
Part 3
Medical Foundation 3
Endocrinology
Week 3
Genetic Concerns
Congenital Anomalies, Dysmorphic Features

Tutorial: Riley Walker MF3 Endocrinology

Part 3, Medical Foundation 3, Endocrinology, Week 3

A healthy 3.6-kg baby boy, Riley, is born to a 25-year-old nulliparous mother in a community hospital. The family doctor notes that the boy's genital development is somewhat atypical. Her examination reveals that the infant has hypospadias, chordee and undescended testes. A plan is put in place for the infant to be seen by a pediatric urologist in 6 weeks with a view to eventual surgical correction. At one week of age, the infant is brought to the family physician's office for routine follow up. Riley's mother comments that he seems to be breastfeeding poorly. She describes him as increasingly uninterested in feeding and is concerned that he seems to be "spitting up" a lot. The infant now weighs 3.1 kg. A recommendation is made to begin some formula supplementation to help support weight gain. At 10 days of age, Riley's mother finds him in his crib, non-rousable, cool, mottled and covered in vomit. Riley is rushed to the emergency department via ambulance. In the emergency room, resuscitative measures are initiated. The airway is suctioned. He is intubated and hand-bagged to achieve ventilation. A 20 mL/kg bolus of normal saline is administered.

General Objectives
Describe the embryology and physiology of sexual differentiation and explain the possible mechanisms involved in the presentation of ambiguous genitalia.
Explain the effect of 21-hydroxylase deficiency on adrenal pathways and apply it to an infant presenting with Congenital Adrenal Hyperplasia.
Global Objectives
Upon completion of this problem, students should be able to describe the production of steroid hormones and to interpret the implications of steroidogenic enzyme deficiencies on embryologic development and postnatal health. Students will also have reviewed the inheritance of Congenital Adrenal Hyperplasia, discussed related genetic counselling, and considered a patient-centered approach to caring for intersex patients.
Part 3
Medical Foundation 3
Endocrinology
Week 3
Genetic Concerns
Abnormal Pubertal Development
Congenital Anomalies, Dysmorphic Features
Failure To Thrive (Infant, Child)
Intrapartum and Postpartum Care
Newborn Assessment

Tutorial: Chantal Landry and Keanu Clarke MF3 Reproduction

Part 3, Medical Foundation 3, Endocrinology, Week 4

You are on a horizontal elective with a pediatric endocrinologist at MUMC when you and your preceptor see your first patient of the day, Chantal. Chantal is a 5-year-2-month-old child presenting with advanced breast development over the past seven months and scant pubic hair growth. This has been associated with rapid growth and intermittent "spotting" over the last two days. Aside from occasional emotional outbursts (crying, arguments with her 9-year-old sister and her mother), there are no other reported concerns. Chantal's mother, a 36-year-old schoolteacher, has a height at the 50th percentile and experienced menarche at age 13. Chantal’s father, a 44-year-old lawyer, also has a height at the 50th percentile and began shaving around age 15 or 16. He has mild hypertension. The family history is negative for early puberty. The parents are not consanguineous. On examination, Chantal's height and weight are both above the 97th percentile. She has grown 9.6 cm in the past year. Physical findings are depicted in the associated media. A bone age radiograph shows a skeletal maturity equivalent to that of a 9-year-old girl. Keanu is a 14-year-old youth who was referred two months ago after repeated attempts to access medical gender-affirming care. Keanu identifies as gender diverse and transfeminine, preferring she/her or they/them pronouns. At Keanu’s last visit, the use of GnRH agonists and gender-affirming hormone therapy (GAHT) was discussed with Keanu and their parents. During today’s appointment, they wish to understand whether the effects of puberty blockers are permanent and to learn about potential health outcomes related to their use.

General Objectives
Recognize the pituitary as the central control gland of the body.
Global Objectives
Upon completion of this problem, students should be able to explain the mechanisms that regulate puberty and explain the etiology of precocious puberty.
Part 3
Medical Foundation 3
Endocrinology
Week 4
Gender and Sexuality
Genetic Concerns
Vaginal Bleeding, Excessive/Irregular/Abnormal
Abnormal Pubertal Development

Tutorial: Kate Smith MF3 Reproduction

Part 3, Medical Foundation 3, Endocrinology, Week 4

Kate Smith is a 15 year old girl. Her mother brings her to the family physician because she has not yet had her first menstrual period. Kate has been well throughout her childhood. Kate has a healthy appetite and weight. She does not receive any medications.

Global Objectives
Upon completion of this problem, students should be able to describe the role of the X chromosome in ovarian function.
Part 3
Medical Foundation 3
Endocrinology
Week 4
Genetic Concerns
Stature Abnormal (Tall Stature / Short Stature)
Abnormal Pubertal Development
Amenorrhea, Oligomenorrhea
Congenital Anomalies, Dysmorphic Features

Tutorial: Pit Parapan MF3 Endocrinology

Part 3, Medical Foundation 3, Endocrinology, Week 4

A 32-year-old female was seen in emergency department for abdominal pain, nausea and diarrhea. Her serum calcium was found to be elevated at 2.94 mmol/L (normal 2.15-2.55 mmol/L). She was treated with intravenous fluids. Her calcium improved to 2.65 mmol/L and she was discharged home to care for her 6-year-old son. She was referred urgently to an outpatient clinic to investigate her elevated calcium. She was also prescribed pantoprazole for worsening heartburn. In the clinic, Ms. Parapan reported a 2-year history of abdominal pain that was getting worse over time. The pantoprazole she was prescribed was modestly helpful in easing her heartburn and abdominal pain. She denied symptoms of polyuria, polydipsia, confusion or mood changes. There is no history of kidney stones. She had a fracture of her humerus at age 15 due to a ski accident. She was taking pantoprazole and a multivitamin daily. Ms. Parapan’s family history is significant for a father who had a pancreatic tumour, though she does not know any more details about his condition. Both her sister and her paternal aunt had a parathyroidectomy. The same aunt had a pituitary tumour requiring surgery.

General Objectives
Recognize the pituitary as the central control gland of the body.
Describe the anatomy and physiology of the parathyroid glands.
Describe the most common pathologies associated with pituitary hormone systems including acromegaly and hyperprolactinemia.
Global Objectives
Upon completion of this problem, students will be able to outline the hormonal abnormalities involved in Multiple Endocrine Neoplasia Type 1 (MEN 1) and review the genetics of proto-oncogenes and tumour suppressor genes.
Part 3
Medical Foundation 3
Endocrinology
Week 4
Vomiting and/or Nausea
Amenorrhea, Oligomenorrhea
Chronic Diarrhea
Calcium disorders
Chronic Abdominal Pain

Tutorial: Gayle Parker MF4 MSK

Part 4, Medical Foundation 4, Musculoskeletal Medicine, Week 1

Gayle Parker is a 12-year-old girl who was recently noted by her dance instructor to have shoulder asymmetry. She has no pain, neurological symptoms such as dysesthesias, or bladder/bowel dysfunction. The deformity has not changed since it was first noticed.Gayle has recently started her menses

General Objectives
Theme 1: Development, structure and function of the musculoskeletal system and interconnection with peripheral nerves.
Discuss common developmental abnormalities of the musculoskeletal system in a child.
Describe how these disorders (developmental abnormalities of the musculoskeletal system) may affect the child through all stages of life.
Global Objectives
Upon completion of this case, students will be able to describe spinal deformities and their implications in children.
Part 4
Medical Foundation 4
Musculoskeletal Medicine
Week 1
Congenital Anomalies, Dysmorphic Features

Tutorial: Ryan Smith MF4 MSK

Part 4, Medical Foundation 4, Musculoskeletal Medicine, Week 1

Ryan Smith is a two week old baby brought to your office by his parents. He was noted to have bilateral feet abnormalities on prenatal ultrasound. Family is anxious and worried about whether the child "Will walk, play soccer etc." Physical exam show that both feet are adducted, supinated, equines and the hindfoot is in varus. The feet are moderately flexible but not completely correctable

General Objectives
Theme 1: Development, structure and function of the musculoskeletal system and interconnection with peripheral nerves.
Discuss common developmental abnormalities of the musculoskeletal system in a child.
Describe how these disorders (developmental abnormalities of the musculoskeletal system) may affect the child through all stages of life.
Global Objectives
Upon completion of this problem, students will be able to describe musculoskeletal embryology and normal limb development, and explain the assessment and management of congenital foot abnormalities in children.
Part 4
Medical Foundation 4
Musculoskeletal Medicine
Week 1
Genetic Concerns
Congenital Anomalies, Dysmorphic Features

Tutorial: Joan Spaulding MF4 MSK

Part 4, Medical Foundation 4, Musculoskeletal Medicine, Week 3

Joan Spaulding is a 32 year old lady who arrives at your clinic with a history of joint pains in the hand. The pain in her hands was predated by a viral flu that manifested itself as generalized arthralgias and fatigue. The pain has been ongoing for 10 weeks and transformed itself from generalized arthralgias to symptoms in the hands and feet associated with morning stiffness that lasts approximately 1 hour.

General Objectives
Describe how the immune system is closely tied in with many disease entities affecting the musculoskeletal system. Central concepts include inflammation, the adaptive and innate immunities and Th1 and Th2 factors.
Describe the scope and multi-system nature of many autoimmune musculoskeletal diseases.
Describe the clinical difference and approach to monoarthritis and polyarthritis.
Discuss rheumatic disorders, including vascultis and myopathies, that present with overlapping neurological symptoms.
Global Objectives
Upon completion of this problem, students will be able to describe the diagnosis and management of rheumatoid arthritis and will have an approach to extra-articular manifestations.
Part 4
Medical Foundation 4
Musculoskeletal Medicine
Week 3
Polyarthralgia (Pain in More Than Four Joints)
Non-Articular Musculoskeletal Pain

Tutorial: Joseph Collins MF4 MSK

Part 4, Medical Foundation 4, Musculoskeletal Medicine, Week 3

Joseph is a 34-year-old man who arrives at the emergency room having returned from a vacation to Cuba 3 weeks ago. He had profuse diarrhea for about 5 days while he was in Cuba. The diarrhea settled by the time he returned to Canada. His primary concern now is swelling and pain in his right knee, left ankle, and left elbow. He is worried that infection from the diarrhea has somehow gotten into his joints. He asked whether he should have received antibiotics while in Cuba, and whether he needs any right now.

Global Objectives
Upon completion of this problem, students will be familiar with reactive arthritis and recognize that environmental and genetic factors have a significant role in the pathophysiology of rheumatic diseases.
Part 4
Medical Foundation 4
Musculoskeletal Medicine
Week 3
Acute Diarrhea
Oligoarthralgia (Pain in One to Four Joints)

Tutorial: Fred Newman MF4 MSK

Part 4, Medical Foundation 4, Musculoskeletal Medicine, Week 4

Fred Newman, a 32-year-old man, complains of severe low back pain of gradual onset over the past few years. The pain is much worse in the morning and gradually decreases during the day. He denies fever or weight loss but does feel fatigued.

General Objectives
Differentiate between inflammatory and mechanical back pain.
Global Objectives
Upon completion of this problem, students will be able to explain the difference between inflammatory and mechanical back pain, and will have explored ankylosing spondylitis as the prototypical inflammatory spine disease.
Part 4
Medical Foundation 4
Musculoskeletal Medicine
Week 4
Back Pain and Related Symptoms (e.g., Sciatica)
Fatigue
Polyarthralgia (Pain in More Than Four Joints)

Tutorial: Neil Wartson (Part 1) MF4 Neuro

Part 4, Medical Foundation 4, Neuroscience, Week 1

Neil Wartson is a 4-year-old boy who is being seen by his family doctor for right-sided hearing loss. According to his mother, his hearing was fine at birth (based on the initial screening tests performed), but seems to have slowly worsened on the left over time. He began complaining of “ringing” in his right ear approximately 6 months ago. It was initially intermittent, but seems to have become more constant over time. He is also reported to have difficulty responding when spoken to on the right side. He is otherwise well and developmentally normal. There is a family history of bilateral hearing impairment in Neil’s father. This has not previously been investigated. On examination, Neil is found to have reduced hearing to whispered words on the right. Rinne and Weber’s tests support sensorineural hearing loss on the right. The family doctor orders formal audiology testing and a sedated MRI. She also suggests that it might be helpful for Neil’s father to be assessed for his hearing loss.

General Objectives
Discuss the anatomy and physiology of the ear and auditory system.
Differentiate between central and peripheral hearing loss.
Global Objectives
Upon completion of this problem, students should be able to describe the anatomy and physiology of the auditory system.
Part 4
Medical Foundation 4
Neuroscience
Week 1
Genetic Concerns
Hearing Loss
Tinnitus

Tutorial: Neil Wartson (Part 2) MF4 Neuro

Part 4, Medical Foundation 4, Neuroscience, Week 1

Neil Wartson is brought back to his family doctor 6 months later. The MRI has still not been performed, but the audiology testing confirmed severe sensorineural hearing loss on the right. Upon entering the office, Neil’s mother is very upset and agitated. Over the last month, she has noticed that Neil has become clumsier and is falling frequently. He also has started to rub his eye a lot and complains that things are “fuzzy”. She also reports that, since the last visit, Neil’s father has been investigated for his hearing loss. He is currently being worked up for Neurofibromatosis Type II. Neil’s mother has looked this up on the internet and is convinced that Neil has this as well.

General Objectives
Identify major structures in the brainstem and recall their basic functions.
Describe some basic concepts surrounding brain tumor development.
Global Objectives
Upon completion of this problem, students should be able to recognize the basic anatomy and function of some of the structures of the brainstem.
Part 4
Medical Foundation 4
Neuroscience
Week 1
Falls
Genetic Concerns
Acute Visual Disturbance/Loss

Tutorial: Andrea Holmes MF4 Neurology

Part 4, Medical Foundation 4, Neuroscience, Week 2

Andrea, an 84-year-old woman, is accompanied by her niece to her family physician's office. Andrea has been living on her own ever since her husband died 10 years ago. Her niece Bev would occasionally pick up some groceries for her aunt. Andrea was always proud to be independent. As she got older, Bev noted that her aunt was a bit forgetful, but put that down to simply getting older. Last month her aunt's neighbour called Bev to tell her that her aunt's hydro was disconnected. Bev was surprised. Her aunt hadn't called her that there was any trouble. Bev noted that her aunt hadn't really called her much over the last few months. Bev went over to her aunt's house. Her aunt greeted her at the door. Her aunt was surprised to see her, even though Bev had called her that day to tell her that she was coming to visit. Bev was surprised to see that her aunt had lost a fair amount of weight. She was even more surprised about the unkempt nature of her aunt's house. This was a woman who prided herself on organization and cleanliness. After much discussion and arguing, Andrea agreed to see her family physician for a routine checkup. She hadn't been to the doctor's for some time.

General Objectives
Explain the pathophysiology and clinical presentation of dementia.
Describe the basic anatomical substrate of memory.
Global Objectives
Upon completion of this problem, students should be able to discuss the concept of dementia.
Part 4
Medical Foundation 4
Neuroscience
Week 2
Delirium
Frailty in the Elderly
Major/Mild Neurocognitive Disorders (Dementia)
Weight Loss / Eating Disorders / Anorexia

Tutorial: David Beatty MF4 Neurology

Part 4, Medical Foundation 4, Neuroscience, Week 2

David Beatty is a 5 year old boy brought to his family doctor by his mother. She is concerned about his clumsiness. He had always been a little 'slow' with his gross-motor milestones. His mother recalled that he did not start walking until he was 20 months old. As he has gotten older, he has seemed less able to keep up with other children his age. As an example she explains that she sees other kindergarten children at the school playground who all seem to be able to run, climb and hop without difficulty. But not David. He is slow, cannot climb well, and falls very often. He also tires out quickly. She worries that maybe he has a problem with the bones in his legs, or maybe a problem with his hips. On examination, David is 111 cm tall (50th percentile), weighs 21 kg (75th percentile), and has a head circumference of 52 cm (75th percentile). He is a happy boy and is eager to tell stories about his teacher and classmates. When standing he has a prominent lordotic curve to his back. He has difficulty climbing up on the examination table, but insists on doing it himself. His heart, lungs and abdomen appear normal. His joints have full range of motion and he does not appear to have any joint or bone pain. His muscle bulk appears to be good - in fact he has large, muscular-looking calves. His deep tendon reflexes are normal (grade 2 out of 4).

General Objectives
Discuss the microscopic structure of muscle and the process of muscle contraction/relaxation.
Recognize the major milestones for gross motor development.
Differentiate inflammatory myopathies, metabolic myopathies, congenital structural myopathies, and dystrophies.
Develop an overall approach to weakness, leading into the neuroscience subunit.
Global Objectives
Upon completion of this problem, students should be able to describe normal muscle function.
Part 4
Medical Foundation 4
Neuroscience
Week 2
Falls
Fatigue
Ataxia (Gait)

Tutorial: Petter Khant MF4 Neurology

Part 4, Medical Foundation 4, Neuroscience, Week 3

Petter Khant, a 6-year-old boy, is brought to his family doctor by his mother because of concerns that he is not learning in school. He is described as a "high energy child", always on the go. He has a very short attention span. His teacher sent along a note explaining that Petter is well behind the expectations for this age. His classmates are learning the sounds that go with different letters, but Petter does not yet even have a concept of letters or numbers. His vocabulary seems very limited, both receptive and expressive. His mother recalls no concerns about his early development. She remembers him as a generally healthy baby. He started to crawl at 9 months and could walk on his own by 13 months. He only began to use a few single words at 2 years of age. A hearing test done at that time was normal.

General Objectives
Recall major normal neurodevelopmental milestones in child development.
Define “developmental delay”.
Review the genetic concept of trinucleotide repeats and anticipation.
Global Objectives
Upon completion of this problem, students should be able to discuss and identify normal and delayed neurodevelopment in childhood.
Part 4
Medical Foundation 4
Neuroscience
Week 3
Developmental Delay
Language and Speech Disorders
Congenital Anomalies, Dysmorphic Features

Tutorial: Shelley Clerke MF4 Neurology

Part 4, Medical Foundation 4, Neuroscience, Week 3

Shelley Clerke is a 72-year-old woman who has had Parkinson's disease for over 10 years. Initially the disorder presented with tremor on her right side. She has been managed by her family doctor and local neurologist. Over the years her medications have been adjusted and new medications added to control her symptoms. More recently, she is experiencing increasing difficulty with activities such as eating and signing her name due to the tremor. Two years ago she started using a rollator walker when her balance and overall mobility made it difficult for her to ambulate in the community with just a cane. Today she has an appointment with her neurologist. The neurologist notes the increase in tremor and her poor overall mobility compared to when he last reviewed her 6 months ago. Her Parkinson medications include: Levodopa/carbidopa 250/25 mg QID, entacapone 200 mg QID, ropinirole 3 mg QID, and amantidine 100 mg BID. On examination she has an obvious and severe right-sided resting tremor that does not completely stop when she raises her arms. She has difficulty getting out of the chair and on to the examination table.

General Objectives
Discuss the anatomy, physiological connections, and neurochemistry of basal ganglia.
Describe the role of the basal ganglia in the control of movement.
Recognize signs of basal ganglia dysfunction.
Explain the pathophysiology and clinical presentation of Parkinsonism.
Describe the mechanism of action for the drugs used in the treatment of Parkinsonism.
Global Objectives
Upon completion of this problem, students should be able to describe the anatomy and basic functional circuitry of the basal ganglia.
Part 4
Medical Foundation 4
Neuroscience
Week 3
Genetic Concerns
Movement Disorders, Involuntary / Tic Disorders
Weakness (not caused by Cerebrovascular Accident)

Tutorial: Melissa Wang IF Host Defence and Neoplasia

Part 5, Integration Foundation, Host Defense and Neoplasia, Week 1

Melissa is a 35-year-old mother of three who works in marketing. She is being seen in consultation by the Internal Medicine service while admitted to Thoracic Surgery for an empyema. Three months prior she began to have cough with intermittent fevers and chills. She has been treated as an outpatient by her family doctor with Amoxicillin, Azithromycin and Levofloxacin over this time. Her symptoms would initially improve but would return within days of completing her antibiotic course. Her condition continued to worsen until this admission. On review of her past history, she has chronic facial pain and pressure with frequent purulent discharge, and typically has 2-3 sinus infections per year requiring antibiotics. She has never had pneumonia before this year. She has never received pneumococcal vaccination. She received her childhood immunization series and had her last tetanus and diphtheria booster 4 years ago. She has been re-vaccinated for measles, mumps, rubella twice, after prenatal evaluation deemed her non-immune. Prior to onset of these symptoms, her only medication was the oral contraceptive pill. In addition to leaving recommendations to manage her empyema, you wonder about her history of recurrent sinusitis and recent pneumonias. As such, you order some screening bloodwork.

General Objectives
Describe the differences between and classify various types of pathogens (e.g. bacteria, viruses, fungi and parasites).
Describe diagnosis and treatment considerations for common chronic diseases.
Explain the overall structure of the immune system.
Describe the infections that patients with common forms of immunodeficiency are at risk of acquiring.
Global Objectives
Upon completion of this problem, students will be able to integrate the various branches of the immune system and be able to identify when to initiate an immunodeficiency work-up.
Part 5
Integration Foundation
Host Defense and Neoplasia
Week 1
Pleural Effusion
Fever in the Immune Compromised Host / Recurrent Fever
Concepts of Health and Its Determinants

Tutorial: Philippe LaCologne IF Host Defence and Neoplasia

Part 5, Integration Foundation, Host Defense and Neoplasia, Week 3

Mr. Lacologne is a 41 year old man who had a stage II colon cancer resected 3 years prior. He had his annual CT scan, and there was a 3 cm hypoechoic lesion in segment 6. His surgeon referred him to a liver Surgeon and Medical Oncologist. The surgeon explained that this is likely recurrent disease from his colon cancer, and recommended chemotherapy neo-adjuvantly and after surgery. He was started on FOLFOX chemotherapy for 6 cycles, subsequent CT and MRI of his liver showed a partial response to chemotherapy. He underwent a left hepatic lobectomy, and following recovery completed an additional 6 cycles of FOLFOX. Two years later subsequent lung lesions are identified in multiple lobes bilaterally. He returns to the Medical Oncologist, and is recommended to start chemotherapy (FOLFIRI/bevacizumab). He asks why surgery is not an option now, and said he heard on the internet that that this bevacizumab drug can cure cancer.

General Objectives
Recognize how an interdisciplinary team can help manage a patient with complex chronic disease.
Identify a patient centered approach to care for individuals with chronic illnesses.
Describe the role of surgery, radiation and systemic therapy in the management of cancer.
Global Objectives
Upon completion of this problem, students should be able to discuss the role of adjuvant chemotherapy and surveillance in at risk patients after surgery. Students will describe the metastatic cascade and explain why some cancers metastasize preferentially to certain sites.
Part 5
Integration Foundation
Host Defense and Neoplasia
Week 3

Tutorial: Godlewski Family IF Host Defence and Neoplasia

Part 5, Integration Foundation, Host Defense and Neoplasia, Week 3

Paula Godlewski is a 50 year old Jewish woman of east European descent. She comes to the appointment with her daughter Anna. She has come to be assessed by a medical oncologist for consideration of systemic therapy following the diagnosis of a node positive breast cancer. Anna, who is 25 years old, asks if this cancer is inherited and whether she will get breast or ovarian cancer. she asks whether she should have prophylactic mastectomies and oophorectomies if her tests were to be positive.

General Objectives
Explain how cancer risk is influenced by genetic factors.
Describe the principles of cancer screening?
Global Objectives
Upon completion of this problem, the student should be able to define the terms “primary, secondary, and tertiary prevention” as they relate to cancer. Students should be able to describe the characteristics of an effective population screening program and the mechanisms by which screening can reduce the burden of cancer.
Part 5
Integration Foundation
Host Defense and Neoplasia
Week 3
Genetic Concerns
Breast Masses and Enlargement

Tutorial: Claire McFadden Part 1 IF Maternal and Child Health Risks

Part 5, Integration Foundation, Maternal Health Risks/Aging-Related Care, Week 1

Claire McFadden is a 16- year-old high school student, living with T1D since age 10, who is currently pregnant (G1). Claire has struggled with her diabetes management in the past but is trying to keep her sugars at target now that she knows she is pregnant. Her most recent HbA1C was 7.8%, and she is using an insulin pump. Claire is being followed concurrently by her endocrinologist and has had microalbuminuria and mild non-proliferative retinopathy but no other diabetic complications. She has been normotensive with a usual BP of 110/70. She was told to start prenatal vitamins with extra folate as well as to discontinue her ACE inhibitor when her pregnancy test was found to be positive. Claire was also started on low-dose ASA (LDASA) at 12 weeks. Her partner, Dave, is 18 years old and is unemployed, having graduated high school in the summer. Claire is living with Dave in her aunt’s apartment. Her pregnancy was unplanned, but she is now excited to become a mother. She is planning to take a year off from high school and then return to complete her high school diploma. Dave is unhappy about this and feels she should stay at home to take care of the baby. They have argued about this, and Dave feels it is Claire’s own fault if she does not like making sacrifices as she could have gotten an abortion like he wanted. Claire worries about Dave’s temper, explaining that when he found out she was pregnant, he yelled at her and then disappeared for a week. She thinks he will come around once the baby is born.

General Objectives
Explain the predisposing factors, initiation and management of pre-term labour.
Describe factors that adversely affect fetal growth and well-being.
Explain the principles surrounding newborn screening for inborn errors of metabolism.
Global Objectives
Upon completion of this problem, students should be able explain the causes and management of preterm labour. Students should be able to describe the social and health impacts of teen pregnancy for teen parents and their children.
Part 5
Integration Foundation
Maternal Health Risks/Aging-Related Care
Week 1
Preterm Labour
Diabetes Mellitus
Dysuria, Urinary Frequency and Urgency, and/or Pyuria
Prenatal Care
Glucose Abnormalities

Tutorial: Ali Khan IF Chronicity and Complexity

Part 5, Integration Foundation, Complexity and Chronicity, Week 2

Ali is an 8-year-old boy who is a patient in the pediatric clinic. Ali’s parents have brought him to the clinic today because they are concerned about his ongoing vomiting. You briefly review Ali’s medical record to familiarize yourself with his medical issues: Past Medical History: Cerebral palsy, spastic quadriplegic GMFCS Level V; Severe intellectual disability; Microcephaly; Scoliosis; Visual impairment; Epilepsy; Gastroesophageal reflux disease.

General Objectives
Recognize how an interdisciplinary team can help manage a patient with complex chronic disease.
Identify a patient centered approach to care for individuals with chronic illnesses.
Describe chronic pain in a biopsychosocial framework which recognizes nociceptive, neuropathic, cognitive-perceptual, brain and behaviour and socio-environmental factors.
Global Objectives
Upon completion of this problem, students should be able to describe an approach to the management of chronic illness in a child with severe neurologic disease. Students should be able to describe an approach to the assessment of quality of life, goals of care and advanced care planning.
Part 5
Integration Foundation
Complexity and Chronicity
Week 2
Developmental Delay
Dysphagia
Genetic Concerns
Seizures / Epilepsy
Vomiting and/or Nausea

Active Large Group Session: Practical Genetics

Part 5, Integration Foundation, Complexity and Chronicity, Week 3

Activity Objectives
Review the principles of single-gene, mitochondrial, and multifactorial inheritance.
Explain genetic imprinting and epigenetics.
Describe indications for genetic testing in general practice.
Explain practical implications of genetic testing.
Interpret results of common genetic tests.
General Objectives
Recognize how an interdisciplinary team can help manage a patient with complex chronic disease.
Part 5
Integration Foundation
Complexity and Chronicity
Week 3
Genetic Concerns

Clinical Exposure: Counseling

Clerkship, Family Medicine Rotation

Clerkship Objectives
Breast feeding support
Contraception counseling
Domestic abuse / family violence
Lifestyle counseling (exercise, dietary, etc.)
Sexual health counseling
Smoking cessation
Substance abuse
Clerkship
Family Medicine Rotation
Contraception
Genetic Concerns
Abnormal, Serum Lipids
Substance Use or Addictive Disorders
Violence, Family (Do not use)
Prenatal Care

Tutorial: Counseling

Clerkship, Family Medicine Rotation

Clerkship Objectives
Breast feeding support
Contraception counseling
Domestic abuse / family violence
Lifestyle counseling (exercise, dietary, etc.)
Sexual health counseling
Smoking cessation
Substance abuse
Clerkship
Family Medicine Rotation
Contraception
Genetic Concerns
Abnormal, Serum Lipids
Substance Use or Addictive Disorders
Violence, Family (Do not use)
Prenatal Care

Large Group Session: Prenatal Diagnosis and Screening

Clerkship, Obstetrics and Gynecology Rotation

To assess genetic risk factors in the family history; when to refer a patient for genetic counselling. To understand age related risks for fetal aneuploidy. To review current standards of practice for Prenatal Screening and Diagnostic testing for fetal aneuploidy. To learn about the evolving landscape of Prenatal Screening in light of new technologies. To be aware of the underlying theme of empowering informed decision making for all women.

Clerkship
Obstetrics and Gynecology Rotation
Prenatal Care

Large Group Session: Amenorrhea

Clerkship, Obstetrics and Gynecology Rotation

Primary amenorrhea. Secondary amenorrhea. Pathoshysiology of amenorrhea. Hypothalamus-Pituitary-Ovary-Uterus interaction. Euestrogenic anovulatory amenorrhea. Hypoestrogenic anovulatory amenorrhea. Cryptomenorrhea. Asherman's Syndrome. Gonadal dysgeneis. Turner's Syndrome. Premature Ovarian Failure. Polycystic Ovary Syndrome. Hypogonadrotropic Hypogonadism. Sheehan's Syndrome. Anorexia Nervosa. Late onset congenital adrenal hyperplasia. Cushing's Syndrome. Androgen insensitivity.

Framework Objectives
Evaluation methods for amenorrhea
Treatment options for amenorrhea
Clerkship
Obstetrics and Gynecology Rotation
Amenorrhea, Oligomenorrhea

e-Learning Module: Fetal Growth Abnormalities

Clerkship, Obstetrics and Gynecology Rotation

Framework Objectives
Define Macrosomia and fetal growth restrictions
Describe etiologies of abnormal fetal growth
Cite methods of detection of fetal growth abnormalities
Cite associated morbidity and mortality of abnormal fetal growth
Clerkship
Obstetrics and Gynecology Rotation
Genetic Concerns
Intrauterine Growth Restriction