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| Question | Answer |
|---|---|
| defective relaxation and peristalsis of rectum and distal sigmoid colon is associated w what congenital disease? what is this disorder/ | this is hirschsprung disease, associated with downs syndrome |
| hirschsprungs is a congenital failure of what? | ganglion cells to descend into the myenteric (auerbach) and submucosal (meissners) plexus |
| where are these plexi located in the bowel wall? | meissners plexus (submucosal) are located in the submucosa to regulate blood flow, secretions and absorptions. myenteric (auerbach) plexus is btw IC and OL in muscularis propria to regulate motility |
| what are the clinical features of hirschsprungs disease? | failure to pass meconium, empty rectal vault on DRE, and massive dilatation (megacolon) of bowel prox to the obstruction w risk of rupture |
| what type of biopsy should you do for suspicion of hirschsprungs disease? what do you expect to find? | rectal suction biopsy to find a lack of ganglion cells |
| tx of hirschsprungs? | resection of the involved bowel; ganglion cells are present in bowel proximal to the diseased segment |
| what are the bowel wall layers affected in chrons disease vs ulcerative colitis? | chrons disease you have knife like fissures involving full thickness of bowel wall. ulcerative colitis have ulcers on the mucosa and submucosa |
| what areas of bowel are affected in chrons disease vs ulcerative colitis? | chrons: anywhere from the mouth to anus can be affected w the fissures, MC is terminal ileum, least is rectum.(have skip lesions) UC: ulcers start in rectum and extend proximally to the cecum (continuous) |
| what are the sxs of chrons disease vs ulcerative colitis? | chrons disease you have pain in RLQ (where the ileum is) w non-bloody diarrhea and UC you have pain in the LLQ (where the rectum is) with bloody diarrhea |
| what type of inflammation do you see in UC vs CD? | chrons you have lymphoid aggregates w granulomas and UC: you have crypt abscesses w neutrophils |
| what is the gross appearance of chrons vs ulcerative colitis? | gross appearance of chrons: cobblestone mucosa, creeping fat, and strictures (string sign). ulcerative colitis: pseudopolpys, loss of haustra (lead pipe sign on imaging) |
| what are the complications of UC vs CD? | CD complications: malabsorption w nutritional deficiency, Ca oxalate kidney stones, fistula formation, CA. UC: toxic megacolon, and CA (usually not a concern until 10 YR of involvement) |
| associations w CD and UC? | CD: ankylosing spondylitis, sacroilitis, migratory polyarthritis, erythema nodosum, uveitis. UC: primary sclerosing cholangitis and pANCA+ |
| smoking in association to CD vs UC? | smoking increases risk of chrons disease and protects against UC |
| colonic diverticula are true or false diverticulum? | they are false diverticulum with outpouchings of mucosa and submucosa through the muscularis propria. |
| what are colonic diverticula associated with? | wall stress- constipation, straining and low-fiber diet. seen in odler adults (risk increases with age) |
| where is the weak point in the colonic wall that increases change of colonic diverticula? | where the vasa recta traverse the muscularis propria. esp seen in the sigmoid colon |
| although colonic diverticula are asxs what are some complications? | rectal bleeding (hematochezia), diverticulitis- dt obstructing fecal material (presents w appendicitis-like sxs in LLQ) and fistula- inflamed diverticulum ruptures and attaches to local structure. colovesicular fistula presents w air (or stool) in urine |
| angiodysplasia is a congenital malformation of the capillary beds in the _____ and ______ | mucosa and submucosa. arises in the cecum and R colon from high wall stress. |
| AD disorder with thin walled blood vessels in the mouth and GI tract is known as what disease? | hereditary hemorrhagic telangiectasia |
| ischemic colitis is ischemic damage to what area of the colon? what is the most common cuase of ischemic colitis? | the splenic flexure- (watershed area of the SMA). MC cause is atherosclerosis of SMA. |
| how does ischemic colitis present? | post-prandial pain, weight loss. an infarction= pain and bloody diarrhea |
| relapsing abdominal pain w bloating, flatulence, and change in bowel habits (constipation or diarrhea) is what disease? what population is it seen in? | IBS, in middle aged females. |
| what can help IBS sxs? | increasing fiber in your diet. |
| what are the 2 most common types of colonic polyps? | hyperplastic and adenomatous. |
| hyperplastic polyps are dt hyperplasia of what? what will you see on microscopy of hyperplastic polyps? and where does it normally occur in the GI tract? | hyperplastic colonic polyps are hypertrophy of the glands. you see serrated appearance on microscopy and its arises in the LEFT colon |
| are hyperplastic polyps benign or malignant? | benign. they have NO malignant potential |
| how are adenomatous polyps different from the hyperplastic? | adenomatous are neoplastic proliferation of the glands, theyre PRE-malignant so they can progress to adenocarcinoma |
| please explain the adenoma-carcinoma sequence of molecular progression from normal colonic mucosa to adenomatous polyp to carcinoma. | APC gene mutations increase the risk for formation of a polyp. k-ras mutation leads to the formation of a polyp. and p53 mutation and increased expression of COX allow for progression to CA. |
| what can you give your pt to inhibit the progression of adenoma to carcinoma? | aspirin** |
| how do we screen for polyps? | colonoscopy and fecal occult blood test. goal is remove adenomatous polyps before progression to carcinoma |
| why do we remove ALL polyps upon colonoscopy? | bc both adenomatous (premalignant) and hyperplastic (benign with no malignant potential) look the same. |
| what is the greatest risk for progression from adenoma to carcinoma? | size >2cm, sessile growth and villous histology |
| APC mutation on ch 5 that increases risk to develop adenomatous polyps in colon and rectum is known as what disease? | familial adenomatous polyposis (FAP) |
| tx for FAP? | removal of rectum and colon |
| what is the difference btw gardners and FAP? | gardners is FAP but with fibromatosis (non-neoplastic proliferation of fibroblasts in retroperitoneum and locally destroys tissue) and osteomas- benign tumor of bone in the skull |
| what is the difference btw turcot syndrome and FAP? | turcot has CNS tumors (medulloblastoma and glial tumors) |
| 4 YO pt presents with a single rectal polyp (hamartomatous, benign) that prolapses and bleeds. dx? | juvenile polyp |
| what if there were multiple of these polyps in the stomach and colon? whats this called? | juvenile polyposis= increased risk of carcinoma progression |
| peutz jeghers syndrome presents with hamartomatous polyps throughout GI and hyperpigmentation of what areas? | lips, oral mucosa and genital skin. |
| peutz jeghers syndrome has an increased risk of what CA? | breast, colon and gynecological |
| peak incidence of colorectal CA? | 60-70YO |
| colorectal CA MC arises from what sequence? | adenoma-carcinoma, but can also airse from microsatellite instability (MSI) |
| what are microsatellites? | are repeating sequences of noncoding DNA, the integrity of sequence is maintained during cell division. instability= defective DNA copy mechanisms- DNA mismatch repair enzymes.. |
| what disease is dt an inherited mutation in the DNA mismatch repair enzymes? | HNPCC- hereditary nonpolyposis colorectal carcinoma |
| you have increased risk of what CA in HNPCC? | ovarian, endometrial and colorectal carcinoma(arises de novo- not from adenomatous polyps, at early age. R sided) |
| whata re the screenings for colorectal carcinoma? | colonoscopy and fecal occult blood test. goal is to remove adenomatous polyps before carcinoma develops or to detect carcinoma early |
| L sided colon CA grows as what classic lesion? whats the pt presentation? | L sided colon CA= napkin ring lesion w decreased stool caliber. pt has LLQ pain and blood streaked stool |
| R sided CA pt presentation/ | iron deficiency anemia (dt occult bleeding) and vague pain. (older woman w IDA has colorectal CA until proven otherwise) |
| colon CA= increased risk for what other condition? | strep bovis endocarditis** |
| where does colon CA like to mets to/ | liver |
| what serum marker is useful in determining pt response to tx for colorectal CA? | CEA. NOT useful for screening |