Tulane (Block Exam) Flashcards
Familial adenomatous polyposis gene and locus
APC; 5q21
Juvenile polyposis gene(s) and locus
SMAD4, BMPR1, ENG; 18q21.1
Wilson’s disease mutation
ATP7B
Inflammatory Hepatocellular Adenoma mutation
Activating mutation in gp130 (encodes IL-6 coreceptor…)
beta-Catenin Hepatocellular Adenoma gene
CTNNB1
“CaTeNiN Beta-1”
Laboratory signs of cirrhosis
Incr. bilirubin
Decr. albumin
Thrombocytopenia (and prolonged INR)
Incr. ferritin
Hereditary hemochromatosis genetics
HFE on chromosome 6p (C282Y mutation most common)
Describe conditions necessary for Campylobacter jejuni growth
Fastidious: 42 degrees C, microaerophilic environment (blood or charcoal to reduce oxygen)
Plummer-Vinson syndrome symptoms
Esophageal webs, iron deficiency anemia, dysphagia, beefy red tongue (d/t atrophic glossitis)
Dubin-Johnson syndrome gene
MRP2
Progressive Familial Intrahepatic Cholestasis gene
ATP8B1
Number 1 drug-related cause of cholestasis
Ampicillin/Augmentin (all abx common cause)
Cholestatic pattern of LFTs
Alk phos 4-5x greater than AST, ALT (but all elevated)
Conditions associated with congenital biliary atresia
Congenital heart disease, polysplenia, bowel malrotation
Behcet’s syndrome symptoms
Aphthous and genital ulcers, uveitis
Gross appearance of Barrett’s esophagus
“Salmon-colored” look (nonspecific)
Location of cancer types in the esophagus
SCC in upper 2/3; adeno ca in lower 1/3
Fasciola hepatica treatment
Bithionol, triclabendazole, nitazoxinide
Ruptured ovarian cyst presentation
RLQ pain radiating to the buttocks (could be either side)
Cause of curling ulcers
Severe burns or trauma
Cause of Cushing ulcers
Elevated ICP (vagal stimulation incr. gastric acid secretion)
What is responsible for glucose absorption in the small intestine
SGLT1
What is responsible for fructose absorption in the small intestine
GLUT5
Haplotype common in Celiac disease patients
HLA DQ 2/8
Rome criteria for IBS
Recurrent and pain with at least 2 of the following:
- improvement with defecation
- change in frequency
- change in appearance of stool
Drugs that can cause pancreatitis
- Azathiprine (immunomodulator for IBD)
- Estrogen
- Dideoxyinosone (HIV med)
- Valproic acid (for psych/neuro diseases)
What is Cullen’s sign? What is it indicative of?
C-shaped darkening around umbilicus; pancreatitis
Which comorbidity predisposes renal and GI side effects of NSAIDs?
Diabetes
Nonbilious vomiting characteristic of what
Congenital pyloric stenosis
ETEC virulence factors
- Heat Labile & Stable Toxins HLT – same mechanism as cholera toxin HST – same mechanism as cholera toxin except cGMP instead - Adhesins – pili, fimbriae - LPS – causes fever - Capsule
Dysentery triad
Tenesmus, abdominal cramps, bloody + mucoid stools (also ulcers and abscesses though)
Microsporidia diagnostic tests
Chromotrope (trichrome) stain; Uvitex 2b/calcafluor (fluorescence); spores in stool
Entamoeba histiolytica diagnostic test(s)
Copro antigen rapid test
Common causes of Short Bowel Syndrome
NEC, (midgut) volvulus, atresias, gastroschisis, Hirschsprung’s
Mucoepidermoid carcinoma genetics
Balanced (11;19) translocation (q21;p13) creates fusion gene between CRTC1 (aka MECT1) and MAML2