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53 Cards in this Set

  • Front
  • Back
Dz associated with RET gene
Hirschsprung's Dz
What does the RET gene do?
plays a crucial role in neural crest development (Hirschsprung's)
What trisomy is common in Hirschsprung's dz?
Trisomy 21
Most common congenital cause of intestinal obstruction
Hirschsprung's Dz
Hirschsprung's Dz causes chronically contracted or relaxed mucles of the colon?
contracted = absence of relaxation
Hirschsprung's Dz commonly involves which portion of the bowel?
rectum (due to failure of caudal movement of enteric neurons)
What is the DX procedure, and the DX findings of Hirschsprung's Dz?
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
Pathogenesis of diverticulosis
1) prolonged increase in intraluminal pressure (constipation)
- lack of adequate fiber = increase constipation
Majority of the people with diverticulosis have what sx?
80% are asymptomatic!

but can get flatulence or inflammation (diverticulitis) from retained fecal material
Inflammatory process charactereized by "paper-like" (plaque) exudate coating the mucosal surface that looks crumbly....pt also used antibiotics ...
pseudomembraneous colitis
Persistent inappropriate immunologic response to GI luminal antigens
IBD
NOD2 gene increases risk of what?
IBD
"cobblestoning" or "creeping fat" on the serosal membrane
CD
Noncaseating granulomas with multinucleated giant cells
pathognomonic for CD
Transmural inflammation (CD or UC?)
CD
UC starts where?
in the rectum, and extends proximally
IBD that is NOT full thickness (involving only the mucosa & submucosa)
UC
Toxic megacolon (CD or UC?)
UC
CD or UC?

Thin wall

Thick wall
UC

CD
inflammatory pseudopolyps (CD or UC?)
UC - pockets of neutrophils in the crypts = crypt abscesses
Diffuse polypoid appearance of the mucosa (CD or UC)?
UC - a lot of inflammatory pseudopolyps!!!
ASCA + (CD or UC?)
CD (She likes to ASKA lot of questions!)
p-ANCA + (CD or UC?)
UC
Primary Sclerosing cholangitis (PSC) - (CD or UC?)
UC
Erythema nodosom - (CD or UC?)
CD
Iritis/uveitis - (CD or UC?)
CD
Nephrolithiasis - (CD or UC?)
CD
Abnormal proliferation of normal tissue constituents
hamartomatous polyps
Osteoma's, desmoids, skin cysts (Gardner syndrome or Turcot syndrome?)
Gardner syndrome
CNS tumors & medulloblastoma (Gardner syndrome or Turcot syndrome?)
Turcot syndrome
Large villous adenomas can be associated with what?
watery (secretory) diarrhea!
Inactivation if adenomatous polyposis coli (APC) tumor suppressor gene is a pathogenesis of what Dz?
Familial Adenomatous Polyposis
What is the colorectal adenocarcinoma sequence (of genes)
APC --> RAS --> p53
Mutations in DNA mismatch repair genes: MLH1 & MSH2 are associated with what?
Hereditary nonpolyposis colon cancer (HNPCC)
Streptococcus bovis is associated with which cancer?
LEFT-SIDED Colorectal Cancer
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!!!!
Colorectal cancers tend to met to what areas? (4)
LIVER!!!
lungs
brain
bone
Name the three most common forms of anorectal neoplasms
Basaloid carcionoma (cloacogenic, epidermoid)
adenocarcinoma
squamous cell carcinoma (associated with HPV!)
An appendiceal mucocele can be either non-neoplastic (just an obstructed appendix)....OR what other two dz processes?
Mucinous cystadenoma (benign)

Cystadenocarcinoma (malignant)
Common neoplasm presenting at the TIP of the appendix
Appendiceal Carcinoid tumor = NEUROENDOCRINE TUMOR (NET)!
Mucinous neoplasm erods through the appendiceal wall and mucinous tumor implants throughout peritoneum
Pseudomyxoma peritonei
Pancreas divisum will lead to what?
chronic pancreatitis due to impaired drainage!
Annular pancreas can lead to what?
duodenal obstructions & other congenital anomalies
Pancreatic choristomas/heterotopic rests are pancreatic tissue that is located where?
OUTSIDE of its normal area (stomach, small bowel, Meckel diverticulum)
Cystic Fibrosis can lead to what 2 pancreatic problems?
pancreatic insufficiency
Chronic pancreatitis (malabsorption!!!)
WBC > __________ strongly suggests acute pancreatitis!
16,000
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
A FEMALE presents with a mass on the tail of her pancreas, which shows "ovarian-type" stroma present in the wall of cyst.
Mucinous cystic neoplasm
A MALE presents with a notible mass in the large pancreatic duct, within the head.
Intraductal papillary mucinous neoplasm
Pancreatic cancer typically involves the body, tail or the head of the pancreas?
head
K-RAS mutations have to do with what?
Pancreatic cancer!!***
Migratory thrombophlebitis is a presentation of what?

What's another name for this?
pancreatic cancer

Trousseau's sign (mucin activates clotting!)
CA19-9 (carbohydrate antigen) is a diagnostic marker for what?
Pancreatic cancer (ductal)!