1
2
3
4
5
100
Mr. Gerdy has been having burning chest pain at night and goes to see his gastroenterologist. His doctor gives him a medicine and he starts to experience dizziness and increased breast tissue and decreased libido. What medication did he take and what is its MOA? What G protein is it coupled to?
Cimetidine H2 receptor antagonist , coupled to Gs (increased cAMP)
100
Guy Fieri thinks his son has ventured to Flavortown a few too many times because he has developed rashes on sun exposed areas, frequent bouts of diarrhea, a BEEFY red tongue, weakness, and keeps rambling about how he needs to pray at the Flavor Temple. Flavortown is perfect and causes no illnesses, what is actually causing this child’s illness?
He has Hartnup Disease and is suffering from Pellagra (DDD) → result of tryptophan or niacin deficiency. Hartnup is due to autosomal recessive metabolic disorder characterized by a defect transport protein required for the absorption of neutral amino acids (e.g., tryptophan) in the small intestine and proximal renal
BONUS: What drug is associated with this disease?
Bonus 2: What Side affect is common with Niacin when given and why?
100
Payal Polyp Patel celebrates the wonderful miracle of life to a healthy baby boy. A couple weeks after his first bday celebration he’s having some currant jelly looking stuff in his diaper!!! He won’t stop crying and he keeps on curling up drawing his legs to his chest. What does he have, what is its most likely cause, and how would we confirm that?
Intussusception caused by Meckel diverticulum, confirmed by 99Tc pertechtenate scan
100
Kumquat the Fishmongerer (71 F) presents with fatigue, dizziness, and palpitations after sticking to the new diet of a single almond for the past few months. Laboratory studies show hemoglobin of 10.9 g/dL, mean corpuscular volume of 111, elevated homocysteine, and normal methylmalonic acid. What she got?
Folate Deficiency! Leads to Megaloblastic anemia and occurs quicker as Folate can be used up in a few months.
Bonus: How do you tell a B12 vs a B9 megaloblastic anemia?
100
Royal Paininthebutt is a 38 year old male having some abdo pain and heartburn with no significant findings except an ulcer in the proximal duodenum. He comes back to the doctor a year later with the same symptoms and some greasy stools and weight loss. His doctor orders another colonoscpy and finds a couple ulcers scattered throughout the duodenum. What further testing should you order and what diagnosis is likely?
Fasting gastrin (>1000pg/mL) and gastric pH (<2) → Zollinger Ellison syndrome
Follow up - what other conditions should you be concerned about?
200
Dub I. Johnson is 72 years old and has really stinky breath and he’s getting worse and worse at swallowing liquids and solids and he’s having weight loss so his doctor does an endoscopy to see whats going on. What might he have? What on histology would you see to separate the top 2 differentials?
Esophageal cancer: SCC (keratin pearls), adenocarcinoma (metaplasia to columnar epithelium with goblet cells)
200
Ima Liltipaht has joint pain, intermittent diarrhea with greasy stools, abd pain, weight loss, and some rhythmic eye movements and ophthalmoplegia. Tests show neg for IgA Transaminase. Histology of LAMINA PROPIA shows PAS+ Foamy Macrophages
Tropheryma whipplei!
Bonus: What is the gram and type of bug this is? - Intracellular, Gram+ Bacilli - Treat with Cef or Penicillin + Straptomycin with TMP-SXM
Note: Remember Reactive Arthritis also has Diah + Arthritis but no steatorrhea or brain issues (and diah is part of preceding infection)
200
Tori Lynch (syndrome) just can’t put the liquor bottle down. For the last 20 years she’s been having 6 glasses of wine after a long day at MSB. At her checkup appointment her doctor’s noticing some flapping of her hands and shes’s having difficulty concentrating. What should her doctor give her and how do those treatments work?
Hepatic encephalopathy due to cirrhosis, treatments are lactulose (acidify colon to increase NH4) and rifaximin (kill NH3 producing bacteria)
200
His Grace Pünder Glockenspiel (4 months) comes to the ED with lethargy, v, failure to thrive since he got up recently. They were not screened and did not get vaccinations. His ma usually gives him milk frequently, but she decided to take the night off for the first time ever. LABS SHOW Hypoglycemia, NO KETONES, hyperammonemia, inc AST/ALT. What part of FA metabolism is impaired here?
But in patients with MCAD deficiency, a deficit of acetyl-CoA develops, which leads to hyperammonemia, hypoglycemia without ketosis, vomiting, and lethargy, as seen in this patient – sz and coma
What are some other enzymes that can failure in Fatty Acid Metabolism?
200
Ms. Shipoopy is a 47 year old lady feeling tired these days and is pale with some tingling feelings in her legs and a bit wobbly especially if her eyes are closed. Her neurologist is concerned about a vitamin B12 deficiency but also notes that her thyroid is enlarged and a thorough review of systems revelas some nausea and vomiting for the past few weeks. Dr brain doctor sends her to an endocrinologist who diagnoses her with Hashimoto’s but isn’t sure why she’s having nausea and vomiting. Why is she having it?
Autoimmune gastritis
Follow up: what would you see on blood smear, and what antibody testing might you order? Is this associated with any HLA subtypes?
300
Brian Z. Ellison has been told he has Crohn’s disease and it got so bad he had to get his ileocecal junction removed :( Couple months later he’s having intermittent RUQ pain especially after fatty meals. What’s going on and why?
Cholesterol gallstones from ileocecal resection from decreased reabsorption of bile acids at terminal ileum
300
Dutch VanderPlan (53M) has 2 months of abd cramps, diarrhea, with some facial flushing, maybe a lil wheeze, and a holosystolic murmur heard best at the LSB. CT scan shows a tumor. His 24-hour urinary 5-hydroxyindoleacetic acid excretion rate is elevated and biopsy shows cells with dense core granules. WHAT HE GOT?
Carcinoid Syndrome with mets to the liver generally from GI (terminal Ileum) → Going to liver SLOWS METABOLISM OF t-HT
Treat with Ocreotidefor sx, and Teloristat / Tryptophan hydroxylase is an enzyme that converts tryptophan to serotonin.
Bonus: Neuroendocrine tumors from what embryo structure?
300
Rebecca Pancreatitis is a 3 year old toddler whose parents are noticing she is slow to sit up and walked later than some of the neighborhood toddlers. She is frequently irritable and lethargic and doesn’t really seem to ever have an appetite, but she isn’t having any vomiting or diarrhea. She saw the doctor once before who gave her a glucose infusion and she seemed to perk right up but didn’t have any long standing effects. Her pediatrician notes that her liver is pretty big for her age and her aunt’s son also had similar issues when he was a kid. What is the likely diagnosis and what is MOA?
Cori disease (GSD III) - AR deficiency in debranching enzymes (gluconeogenesis intact)
Follow up: what is its more severe counterpart and enzyme issue?
300
Paddy the Laddy Bimblett (27F) has fv, fatigue, decreased appetite, itchy trunk, and mild abdominal pain. She has not seen a physician in several years and her immunization status is unknown. She drinks 2 alcoholic beverages on the weekends and does not use illicit drugs. They are sexually active and does drugs. PE shows right upper quadrant tenderness and scleral icterus. What virus did she got and what kind of virus is it? Additionally, what kind of infection is this?
HBsAG: +
Anti-HBs: +
ABeAg: -
Anti-Be: +
Anti-HBc: IgM -
Anti-HBc: IgG +
HepB partially double-stranded, circular DNA with chronic HepB infection with low infectivity.
Ok, pretend the question was about a pregnant patient who has acute Hepatitis. What hep she almost 100% has?
300
Nicolitis kelhofer is a 2 month old baby who was born at home and used to be fine but now he’s having seizures, eczema, and he smell kinda stinky not just from his diaper just generally. His head is also really small for his body? His parents kinda don’t realy know what to do so they schedule a doctors appointment for a couple weeks in the future but then he dies (RIP). what did he have?
Malignant PKU - BH4 deficiency
Follow up: what other lab findings/manifestations would you have seen?
400
Crenan Najjar is preparing a delicious vegetarian meal after a wonderful Monday morning BiCEP session. By wednesday BiCEP he feels so sick he can’t come and he has to email his facilitator that he is having cramps, bloody diarrhea and a really bad fever. What anaerobic pathogen is the likely culprit and what cell is it affecting the most?
Shigella dysenteriae - M cells (low infectious dose)
400
Penny Prunefoot was seen in the ED for bloody diarrhea, Sx began after eating some home-prepped burgers. PE shows pallor, abd tend with hyperactive bowel sounds, petechiae on her chest. Labs of Note: Platelets are low, HgB is low, PT/INR and PTT is NORMAL, Bleeding time is increased, Cr/BUN is elevated, Lactate is elevated with a blood schmear showing schistocytes (fragmented RBCS). What did she got?
Hemolytic Uermic Syndrome HUS from Almost Certainly enterohemorrhagic E. coli (EHEC) strain O157:H7. → See uncooked BEEF. HUS is microthrombi that occlude arterioles and caps in response to endothelial damage esp in places like Glomerulus → hemolysis, AKI and ischemia
Bonus: What is the staining, shape, and toxin of E. Coli in this disease?
400
Lucas Lakrabbea on his recent spring break trip to Mexico had an awesome time and ate lots of yummy local food!!!!! But a week after hes having diarrhea,abdo cramps, and vomiting. Its getting so bad he has to go to the doctor to write him a note because his teachers won’t let him miss any more days of class. His doctor does a rectal exam and doesn’t detect any blood in the diarrhea. What does he have and what specific toxins?
Enterotoxigenic e coli - heat-labile toxin (increase cAMP), heat-stable toxin (increased cGMP)
Follow up: what other pathogens can cause watery diarrhea?
400
Unita Sandwich C. Cooke (42) has frequent urination and increased thirst. PE shows darkened skin and a firm mass in the right upper quadrant. Their blood glucose is 220 mg/dL. A photomicrograph of a specimen obtained on liver biopsy is shown which is unideal. The Doc is scared he has a disorder that may lead to HCC or Cardiomyopathy. What he got and what HLA is positive for?
Hemochromatosis is classic with Bronze Skin, DM, and Cirrhosis.
Mech: Abnormal HFE gene on chromo 6 due to C282Y/H63D causing UNREGAULTED ABSORBS IRON due to less Hepcidicin!
400
Legume Dupree has intellectual disability, worsening vision, and is super tall weird body shape with decreased muscle tone. They have a disease that affects enzymes in the metabolism of methionine and glutathione. What the got?
Homocystinuria caused by == (1) cystathionine synthase deficiency (this enzyme uses vitamin B6 as a cofactor), (2) decreased affinity of cystathionine synthase for B6, and (3) methionine synthase deficiency.
Bonus: UNRELATED PATHWAY → if the question asks about joint pain, dark sweat, urien turning black, blue sclera and ear cartilage with - what he got? →
500
Anuj VIPawala has been having nausea, vomiting, diarrhea, and upper abdo pain for the last few months with a little bit of weight loss. His doctors says his ankles are super swollen. On endoscopy we see some rugae in the gastric fundus. Whats he got? Is it cancer????
Menetrier disease (hyperplasia of gastric mucosa) , no but precancerous
500
Lord Pip Gobblah III has fatigue, pruritus, jaundice, hepatomegaly, elevated serum-antimitochondrial antibody titers, Labs show inc AST, ALT, AlkPhos. What is the disease? A biopsy of the liver is most likely to show what is in the liver?
Primary Biliary Cholangitis
Bonus: Instead if I would have said - Onion-Skin Appearance, periductal concentric scarring fibrosis with beading of Intra & Extra-hepatic ducts. What they got?
500
Tony Tu much Sugar is a 4th grader who isn’t doing so good in his gymnastics anymore because his fingers keep on tingling and he’s not even breaking a sweat at the gym. He also has these weird purple spots all over his body? What does he have and MOA, is there a genetic component, what are late stage complications?
Fabry disease (deficient alpha-galactosidase A) - buildup of ceramide trihexoside, X-linked recessive, later progressive renal failure, cardiovascular disease
500
Boomba the Tuba (38 weeks) has abd distention with bilious vomiting 24 hours after delivery. The pregnancy and delivery were uncomplicated. She appears lethargic and her fontanelles are sunken, ears low set and face is flat. This infant most likely has a congenital obstruction affecting which of the following anatomic structures?
Duo Atresia
If it was a triple bubble sign?
500
May Beane Laight (75F) with a hx of htn, hld, afib and DM who decided to get abdominal surgery for lysis of adhesions yesterday to celebrate her sticking to Kumquat the Fishmongerer’s diet of 1 almond (with the necessary vitamins in pill form) and losing 350 pounds. However, today she got severe abd pain and bilious vomiting. On PE, her abdomen is distended, and sudden movement elicits a sloshing sound. Imaging reveals no passage of oral contrast beyond the third portion of the duodenum. What did they got?
SMA Syndrome: SMA courses over the distal ⅓ of duodenum and normally mesenteric fat keeps SMA away from duodenum. If pressed down → Obstruction. (MASSIVE WEIGHT LOSS)
BONUS WHILE HOSPITALIZED her abd pain worsens and emergency laparotomy reveals dusky discoloration of the hepatic flexure and adjacent transverse colon, raising concern for ischemia. What could have caused this and what is the other classically troubling watershed area?