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38 Cards in this Set
- Front
- Back
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Congenital megacolon characterized by lack of ganglion cells/enteric nervous plexuses (auerbach and meissner), due to failure of neural crest cell migration |
Hisrchsprung disease |
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Presents with impaired peristalsis in the colon, bilious emesis, abdominal destention, and failure to pass meconium in the first 48 hours of life |
Hisrchsprung disease |
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Hisrchsprung disease is associated with mutations in what gene ? |
RET gene |
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What is the treatment of Hisrchsprung disease? |
Resection |
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What are the GI problems in Down syndrome? |
-Duodenal atresia -Hirschsprung disease -Annular pnacreas -Celiac disease |
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Formed where endoderm (hindgut) meets ectoderm |
Pectinate (dentate) line |
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Internal hemorrhoids,adenocarcinoma are found above or below the pectinate line ? |
Above the pectinate line |
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Artery supply from superior rectal artery (branch of IMA) and venous drainage is to superior rectal vein -->inferior mesenterica--->portal system |
Above the pectinate line |
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External hemorrhoids, anal fissures, squamous cell carcinoma are found Above or Below pectinate line? |
Below pectinate line |
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Arterial supply from inferior rectal artery (branch of internal pudendal artery) and venous drainage to inferior rectal vein-->internal pudendal vein-->internal iliac vein-->IVC |
Below pectinate line |
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Internal hemorrhoids receive visceral innervation and are therefore |
NOT painful |
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External hemorrhoids receive somatic innervation and are therefore |
Painful |
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Tear in the anal mucosa below the pectinate line, pain while pooping, blood on toilet, located posteriorly since this are is poorly perfused |
Anal fissure |
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Rare syndrome caused by carcinoid tumors, especially metastatic small bowel tumors, which secrete high levels of serotonin(5-HT) |
Carcinoid syndrome |
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Carcinoid syndrome results in |
-Recurrent diarrhea -Cutaneous flushing -Asthmatic wheezing -Right-sided valvular disease |
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What are the treatment for Carcinoid syndrome? |
-Resection -Somatostatin analog (octeotide) |
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What are the rule of 1/3 of Carcinoid syndrome? |
-1/3 matastasize -1/3 present with 2nd malignancy -1/3 are multiple |
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Carcinoid syndrome can metastasize to |
-Lung -Bronchial tree -Small intestine -Appendix
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Masses protruding into gut lumen, sawtooth appearance, 90% are non-neoplastic, often rectosigmoid, can be tubular or villous |
Colonic polyps |
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Are precancerous, malignant risk is associated with increase in size, villous histology, precursor to colorectal cancer |
Adenomatous |
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What are the types of Adenomatous polyps? |
-Tubular adenomas -Tubulovillous adenoma -Villous adenoma |
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What are the polyp symptoms? |
Often asymptomatic, lower GI bleed, partial obstruction, secretory diarrhea |
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Most common non-neoplastic polyp in colon (>50% found in rectosigmoid colon) remove any way |
Hyperplastic |
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Mostly sporadic lesions in children <5 years old, 80% in rectum, if single, no malignant potential |
Juvenile polyp |
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Multiple juvenile polyps in GI tract, increases risk of adenocarcinoma |
Juvenile polyposis syndrome |
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Autosomal dominat syndrome featuring multiple multiple nonmalignant hamartomas throughout GI tract, along with hyperpigmented mouth,lips, hands, genitalia |
Peutz-jeghers syndrome |
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Associated with increase risk of CRC and other viceral malignacies |
Peutz-jeghers syndrome |
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50% of patients will develop a malignancy in CRC, small intestine, stomache, pancreatic after 50 years old |
Hamartomatous |
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Autosomal dominat mutation of APC gene on chromosome 5q, 2-hit hypothesis, 100% progress to CRC unless colon is resected |
Familial adenomatous polyposis(FAP) |
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FAP+ osseous and soft tissue tumor, congenital hypertrophy of retinal pigment epithelium |
Gardner syndrome |
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FAP+ malignant CNS tumor |
Turcot syndrome |
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Autosomal dominat mutation of DNA mismatch repair genes, 80% progress to CRC, proximal colon is alwts involved |
Hereditary nonpolyposis colprectal cancer (HNPCC/Lynch syndrome) |
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What are the risks factor for colorectal cancer? |
-UC>Crohn -Smoking -High fat/low fiber -Alcohol -Obesity -Villous adenomas |
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What genes are mutated in colorectal cancer? |
-K-ras -APC -Loss of p53 |
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What are the symptoms of Ascending colorectal cancer? |
-Exophytic mass -Iron deficiency -Anemia -Weight loss |
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What are the symptoms of Descending colorectal cancer? |
-Infiltrating mass -Partial obstruction -Colicky pain -Hematochezia -Pencil thin stool |
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Good for monitoring recurrence, not useful for screning |
CEA tumor marker |
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What are the diagnosis test for colorectal cancer ? |
-Colonoscopy -Fecal occult blood -Barium -Flexible sigmoidoscopy |
