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53 Cards in this Set
- Front
- Back
Dz associated with RET gene
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Hirschsprung's Dz
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What does the RET gene do?
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plays a crucial role in neural crest development (Hirschsprung's)
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What trisomy is common in Hirschsprung's dz?
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Trisomy 21
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Most common congenital cause of intestinal obstruction
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Hirschsprung's Dz
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Hirschsprung's Dz causes chronically contracted or relaxed mucles of the colon?
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contracted = absence of relaxation
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Hirschsprung's Dz commonly involves which portion of the bowel?
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rectum (due to failure of caudal movement of enteric neurons)
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What is the DX procedure, and the DX findings of Hirschsprung's Dz?
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DX procedure = rectal biopsy
DX findings - absence of submucosal enteric gangion cells with compensatory hypertrophy of non-enteric PNS fibers that normmaly innervate the enteric ganglion cells |
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Pathogenesis of diverticulosis
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1) prolonged increase in intraluminal pressure (constipation)
- lack of adequate fiber = increase constipation |
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Majority of the people with diverticulosis have what sx?
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80% are asymptomatic!
but can get flatulence or inflammation (diverticulitis) from retained fecal material |
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Inflammatory process charactereized by "paper-like" (plaque) exudate coating the mucosal surface that looks crumbly....pt also used antibiotics ...
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pseudomembraneous colitis
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Persistent inappropriate immunologic response to GI luminal antigens
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IBD
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NOD2 gene increases risk of what?
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IBD
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"cobblestoning" or "creeping fat" on the serosal membrane
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CD
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Noncaseating granulomas with multinucleated giant cells
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pathognomonic for CD
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Transmural inflammation (CD or UC?)
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CD
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UC starts where?
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in the rectum, and extends proximally
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IBD that is NOT full thickness (involving only the mucosa & submucosa)
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UC
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Toxic megacolon (CD or UC?)
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UC
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CD or UC?
Thin wall Thick wall |
UC
CD |
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inflammatory pseudopolyps (CD or UC?)
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UC - pockets of neutrophils in the crypts = crypt abscesses
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Diffuse polypoid appearance of the mucosa (CD or UC)?
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UC - a lot of inflammatory pseudopolyps!!!
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ASCA + (CD or UC?)
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CD (She likes to ASKA lot of questions!)
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p-ANCA + (CD or UC?)
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UC
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Primary Sclerosing cholangitis (PSC) - (CD or UC?)
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UC
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Erythema nodosom - (CD or UC?)
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CD
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Iritis/uveitis - (CD or UC?)
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CD
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Nephrolithiasis - (CD or UC?)
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CD
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Abnormal proliferation of normal tissue constituents
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hamartomatous polyps
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Osteoma's, desmoids, skin cysts (Gardner syndrome or Turcot syndrome?)
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Gardner syndrome
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CNS tumors & medulloblastoma (Gardner syndrome or Turcot syndrome?)
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Turcot syndrome
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Large villous adenomas can be associated with what?
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watery (secretory) diarrhea!
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Inactivation if adenomatous polyposis coli (APC) tumor suppressor gene is a pathogenesis of what Dz?
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Familial Adenomatous Polyposis
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What is the colorectal adenocarcinoma sequence (of genes)
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APC --> RAS --> p53
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Mutations in DNA mismatch repair genes: MLH1 & MSH2 are associated with what?
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Hereditary nonpolyposis colon cancer (HNPCC)
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Streptococcus bovis is associated with which cancer?
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LEFT-SIDED Colorectal Cancer
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Which colorectal cancer...Left or Right-Sided, has a greater tendency for more substantial bleeding?
If the people can bleed a lot from a cancer in this area, this means that these cancers can cause ____________ |
RIGHT-SIDED CRC!
ANEMIA!!!! |
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Colorectal cancers tend to met to what areas? (4)
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LIVER!!!
lungs brain bone |
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Name the three most common forms of anorectal neoplasms
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Basaloid carcionoma (cloacogenic, epidermoid)
adenocarcinoma squamous cell carcinoma (associated with HPV!) |
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An appendiceal mucocele can be either non-neoplastic (just an obstructed appendix)....OR what other two dz processes?
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Mucinous cystadenoma (benign)
Cystadenocarcinoma (malignant) |
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Common neoplasm presenting at the TIP of the appendix
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Appendiceal Carcinoid tumor = NEUROENDOCRINE TUMOR (NET)!
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Mucinous neoplasm erods through the appendiceal wall and mucinous tumor implants throughout peritoneum
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Pseudomyxoma peritonei
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Pancreas divisum will lead to what?
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chronic pancreatitis due to impaired drainage!
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Annular pancreas can lead to what?
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duodenal obstructions & other congenital anomalies
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Pancreatic choristomas/heterotopic rests are pancreatic tissue that is located where?
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OUTSIDE of its normal area (stomach, small bowel, Meckel diverticulum)
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Cystic Fibrosis can lead to what 2 pancreatic problems?
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pancreatic insufficiency
Chronic pancreatitis (malabsorption!!!) |
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WBC > __________ strongly suggests acute pancreatitis!
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16,000
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Brittle diabetes occurs in what dz process.
What is it? |
Chronic pancreatitis
loss of both insulin & glucagon due to autoantibodies targeting cells = VERY difficult to regulate blood glucose |
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A FEMALE presents with a mass on the tail of her pancreas, which shows "ovarian-type" stroma present in the wall of cyst.
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Mucinous cystic neoplasm
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A MALE presents with a notible mass in the large pancreatic duct, within the head.
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Intraductal papillary mucinous neoplasm
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Pancreatic cancer typically involves the body, tail or the head of the pancreas?
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head
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K-RAS mutations have to do with what?
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Pancreatic cancer!!***
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Migratory thrombophlebitis is a presentation of what?
What's another name for this? |
pancreatic cancer
Trousseau's sign (mucin activates clotting!) |
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CA19-9 (carbohydrate antigen) is a diagnostic marker for what?
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Pancreatic cancer (ductal)!
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