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X linked severe persistent diarrhea and autoimmune disease that occurs most often in young children o IPEX = immune dysregulation, polyendocrinopathy, enteropathy and X linkage; d/t germline mutation in FOXP3-->defective T regulatory func   Autoimmune enteropathy  
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whipworms. Heavy infect--> bloody d and rectal prolapse   Trichiura  
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traveler’s diarrhea. Oocysts killed by freezing, but resist Cl. Activated by stomach acid.   Cryptosporidium  
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trauma induced prolif w/ entrapment of epthel lined cysts   Gastritis Cystica  
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small icosahedral single strand RNA. Causes lots of gastroenteritis. Cruise ships   Norovirus  
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traveler’s diarrhea, contam food/water, heat labile toxin (LT) and heat stable toxin (ST) induce Cl and water secretion while inhibiting intestinal fluid absorption.   Etoxigenic EC  
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pork, raw milk, contam water. Likes iron. Ileum, appendix, right colon. o Extra intest symps = pharyngitis, arthralgia, erythema nodosum   Yersinia  
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pin worms live in lumen, deposit eggs at butthole-->pruritus contaminates fingers. Tapebut   Vermicularis  
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O157:H7, undercooked ground beef. Shiga-like toxins-->dysentery and HUS - Einvasive EC: similar to shigella   Ehemorrhagic EC  
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most often associated w/ H. pylori. Most common in gastric antrum and prox duod. o Round to oval sharply punched out ulcer. o Pain 1 to 3 hrs after meals, worse at night , relieved by alkali or food   PUD  
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most common pathogenic parasitic infect in humans. Cysts resist Cl. Pear shaped and owl eyes.   Giardia lamblia  
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most common mesenchymal tumor of the abdomen, many in stomach. Large. o Carney triad: young females have GIST, paraganglioma, and pulm chondromas o Also increased GIST w neurofibromatosis type 1 o Oncogenic gain of func muts of gene encoding c-KIT   GI stromal tumor (GIST)  
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most common malig of stomach. Symp: weight loss, altered bowels, anemia, hemorrh. Loss of func Mut CDH1, encodes E-cadherin. o Diffuse rugal flattening and a rigid, thick wall = leather bottle appearance linitis plastica   Gastric Adenocarcinoma o Metastases: to supraclavicular sentinel lymph node = Virchow’s node, periumbilical = Sister Mary Joseph nodule o Intestinal: bulky tumors w/ glands o Diffuse infilt: signet-ring cells  
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malabsorption diarrhea (d/t impaired lymph transport), lymphadenopathy, arthritis w foamy macrophages and many argyrophilic rods in lymph nodes, shaggy appearance of mucosal surface. Gram pos actinomycete – Tropheryma whippelii.   Whipple disease  
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Lynch synd. Young. Right colon. Mutant MSH2 and MLH1.   Hereditary Non-Polyposis Colorectal Cancer  
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cant secrete TG rich lipoprots. Mut microsomal TG transfer prot (MTP)->TGs accumulate w/in epithel cells. Presents in infancy w/ failure to thrive, diarrhea, steatorrhea. Complete absence of apolipoprotein B. Have Acanthocytic RBCs (Burr cells).   Abetalipoproteinemia  
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gram neg. Nontyphoid usually d/t S. enteritidis infects young and old in summer and fall. Raw or undercooked meat. Bacterial growth w/in phagosomes. Antibiotics not recommended   Salmonellosis  
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gram neg facultative anaerobes. L colon children in daycare, travelers and nursing home most commonly infected. 6 days diarrhea, fever and ab pain o Resistant gastric acid, low infective dose o Shiga toxin inhib eukaryotic protein synth->host cell death   Shigellosis Can lead to HUS and Reiters  
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foveolar hyperplasia, gland regen changes, and mucosal edema. o Gastric antral trauma induces lesion called gastric antral vascular ectasia (GAVE), watermelon stomach   Reactive gastropathy  
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excessive iron absorption and accumulation. Micronodular cirrhosis, DM, skin pigmentation. 50-60 y/o men. Lack of hepcidin d/t mutant hepcidin (HAMP) and HJV (juvenile), TfR2, HFE (most common). Brown fibrous organs slate-gray skin. 200 x risk for HCC.   Hemochromatosis o Hemosiderosis: acquired hemochromatosis d/t ineffective erythropoiesis (thalassemias and myelodysplastic synd)  
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Can survive in gastric acid and gallblad o Peyer’s patches terminal ileum plateau elevations, oval ulcers. o Rose spots on chest and abdomen. Sickle cell susceptible to osteomyelitis.   Typhoid Anorexia, ab pain, bloating, N/V, dysentery, followed by short asymp phase, then bacteremia w fever and flu-like symptoms.  
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encapsulated segmented 2x strand RNA. Most common cause of severe childhood diarrhea and diarrheal mortality worldwide. b/w 6 and 24 mos. 10 viral particles to infect   Rotavirus  
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comma shaped, gram neg, improperly cooked chicken. Resists high temps. o Cholera-like toxin. Can cause watery di, dysentery, enteric fever, reactive arthritis, Guillan Barre   Campylobacter jejuni  
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comma shaped, gram neg, contaminated drinking water and shellfish o cholera toxin (preformed) stimulates adenylate cyclaseincrease cAMPopen CFTR->Cl into lumen->secrete bicarb, NA and water->massive rice water diarrhea (fishy odor).   Vibrio cholerae  
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chronic, watery diarrhea, w/o weight loss o Collagenous = older women, dense supbepi collagen layer, increased intraepi lymphocytes, mixed inflame infiltrate w/in lamina propria. o Lymphocytic=greater increase in intraepi lymphocytes. Strong ass w/ Celi   Microscopic colitis  
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chronic, relapsing ab pain, bloating and changes in bowel habits. o Ab pain at least 3 days/mo over 3 mos, improve w/ defecation, change in stool freq or form.   IBS  
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caused by excessive TGF-alpha->diffuse hyperplasia of foveolar (mucus) epithel of body and fundus (corkscrew like glands) and hypoproteinemia. Usually follows resp infect in kids. Increases risk of adenocarc.   Menetrier disease  
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C. diff overgrowth d/t antibiotic suppression of normal flora, 3rd gen cephs and Clindamyacin   Pseudomembranous Colitis  
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autosom dom, colorectal adenomas as teen. Mut APC gene, or MUTYH. Also, congen hypertrophy of retinal pigment epithel. o Gardner synd: osteomas, desmoids, skin cysts, dental abnorm o Turcot synd: CNS and intestinal tumors, meduloblastomas, glioblastoma   Familial Adenomatous Polyposis  
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autoinfectious can persist for life   Stongyloides  
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amebiasis and liver abscesses. Cause dysentery w flask shaped ulcers   Entamoeba histolytica  
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adhere to epithel cells, traveler’s diarrhea. Nonbloody diarrhea prolonged w AIDS   Eaggregative EC  
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>50 y/o, nonhereditary, hamartomatous polyps in stomach, small intestine and colorectum, nail atrophy and splitting, hair loss , and hypo and hyper pigmentation   Cronkhite-Canada  
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<5 y/o, SMAD4 and BMPR1A, risk of GI adenocarcinoma, pulmonary arteriovenous malformations and digital clubbing   Juvenile Polyposis  
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<15 y/o, PTEN, macrocephaly, intestinal hamartomatous polyps, benign skin tumors plus mental def and developmental delays   Bannayan-Ruvalcaba-Riley  
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<15 y/o, PTEN, macrocephaly, intestinal hamartomatous polyps, benign skin tumors   Cowden Syndrome  
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11 y/o, LKB1/STK11, arborizing polyps of small intestine, skin macules and increased risk of thyroid, breast, lung, other cancers   Peutz-Jeghers  
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multiple peptic ulcerations in stomach, duod caused by gastrinoma->massive acid production and increase in parietal cells and mucin hyperproduction. Risk factor is MEN1 or 2   Zollinger-Ellison synd  
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