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85 Cards in this Set
- Front
- Back
What is the ras family?
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GTP binding proteins that are signal transducing oncogenes. If they get mutated, there can be a gain of function.
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Germline mutations in these underlie all known inherited cancer syndromes
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Tumor suppressor genes (p53)
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What is the function of the Adenomatous Polyposis Coli (APC) gene product?
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Causes degradation of beta-catenin, which normally enters the nucleus and activates transcription of growth-promoting genes.
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What is microsatellite instability?
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The appearance of abnormally long or short microsatellites in an individual's DNA is referred to as microsatellite instability. Microsatellite instability (MSI) is a condition manifested by damaged DNA due to defects in the normal DNA repair process.
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T/F Microsatellites have an intrinsic tendency to be copied inaccurately and therefore require the DNA mismatch repair system to work.
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T
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What is a DNA chance that occurs in the smallest adenomas and may represent first step?
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hypomethylation (leading to overactivity)
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Mutations in APC gene are linked to what?
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Found in small adenomas, linked to dysregulated proliferation.
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Kras oncogene mutations linked to what?
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Arise during the adenomatous stage and inactivate the portions of the protein involved in halting signal transduction
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Mutations in p53: how does it relate to colon cancer?
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Interferes with ability of p53 protein to modify gene expression in nucleus. Coincides with transition to malignancy.
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________ arises from germline mutations of the APC gene and is inherited in an autosomal dominant manner. When present, it virtually guarantees development of colon cancer.
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Familial Adenomatous Polyposis (FAP)
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Clinical characteristics of FAP
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hundreds to thousands of colonic adenomatous polyps at an early age. Will develop colon cancer unless colon is removed.
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What is Gardner syndrome?
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Variant of FAP. Has typical GI involvement, but also extraintestinal lesions including osteoma, odontomas, epidermoid cysts, fibromas, desmoid tumors.
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What is Turcot syndrome?
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Another variant of FAP where patients also develop CNS malignancies, especially medulloblastoma.
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What is Attenuated Polyposis Coli (AAPC)?
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Variant of FAP where development of colon cancer isn't inevitable.
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_____ arises from inherited mutations in any one of six mismatch repair genes, although mutations in only two of them (hMLH1 and 2) account for >95% of them.
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Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
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hMLH1 and hMLH2 are associated with what disease?
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Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
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How is HNPCC inherited?
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autosomal dominant
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___% of colon cancer cancers are hereditary (HNPCC, FAP)
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5
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HNPCC is aka
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Lynch Syndrome
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polyp dwell time: defn
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time it takes for a single adenoma to gross invasive cancer.
About 10 years. |
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Most colorectal cancers arise from _____ polyps
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adenomatous
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Characteristics of tumors with microsatellite instability:
Where located? |
Generally in proximal colon
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metachronous: defn
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a time interval between detection of the first lesion and detection of a subsequent primary lesion
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hamartoma: defn
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normal tissue elements growing in a disorganized fashion
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What is MYH-associated polyposis (MAP?)
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Resembles FAP in absence of family history. It's inherited in autosomal recessive fashion.
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Lynch syndrome: Amsterdam Criteria (3:2:1 rule)
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At least 3 family members must have it.
2 or more generations 1 case a first-degree relative (no skipping generations) One case before age 50. |
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name 4 colon cancer screening tests
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Fecal Occult Blood Test (FOBT)
Sigmoidoscopy Double Contrast Barium Enema Colonoscopy |
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name 4 factors that put someone into a high risk group
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Positive Family History
Inherited polyp syndromes Inflammatory Bowel Disease Previous adenoma/ Cancer |
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What is a lower risk family history?
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Single first degree relative diagnosed age >60 with cancer or adenomas.
Two second degree relatives with CRC |
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For someone whose father had CRC at age 65, when should screening begin?
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Age 40 (lower risk family history)
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What is a high risk family history?
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Single first degree relative diagnosed with cancer or adenomas at age < 60.
2 first degree relatives with colon cancer at any age. |
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For someone whose mother and sister both had CRC at age 50 and 34, respectively, when should colonoscopy screening begin?
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Begin screening at age 40 or 10 years younger than the earliest diagnosis in the family.
Colonoscopy every 5 years. |
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What are risk factors for CRC development in a person with IBD?
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extent of colonic involvement
duration of disease |
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Colonoscopic Surveillance every ___ years is recommended for individuals with IBD
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1-3
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For individuals with a personal history of CRC, Clearance of the remainder of the colon at or around the time of resection, followed by colonoscopy at ___ years after curative resection, then at ___ year intervals to detect metachronous neoplasia.
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3; 3-6
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Virtual colonoscopy: pros and cons
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Pros: Non-invasive, no sedation, better safety profile than colonoscopy
Cons: Still requires prep and is uncomfortable |
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2 most common risk factors for colon cancer
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1) Age
2) family history |
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The screening of at-risk individuals usually involves colonoscopy initiated ____ years before the index case was diagnosed with colon cancer
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10
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What is the next step for a + FOBT?
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colonoscopy
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What is the problem with sigmoidoscopy?
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only detects 1/2 of CRC or polyps
only goes to splenic flexus |
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T/F the only option recommended for high-risk groups is colonoscopy
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T
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T/F Drug reactions are extremely important to consider in elderly patients' GI complaints
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T
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hyposmia: defn and important
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decrease in olfaction, occurs in up to 40% of people. may affect appetite
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Xerostomia: defn and importance
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dry mouth. very common medication side effect.
adversely effects swallowing. Anticholinergic agents of all types notorious for this. |
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What is the difference between oropharyngeal dysphagia and esophageal dysphagia?
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oropharyngeal : difficulty initiating the act of swallowing, patient (especially if demented) may "forget" how to swallow.
Esophageal: difficulty in esophageal passage of food bolus due to mechanical obstruction, problems swallowing solids manifest first. |
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Common causes of esophageal dysphagia
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1) extrinsic compression (thyroid, spine, other masses)
2) Dysmotility (often intermittent symptoms) |
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What type of dysphagia is the kind caused by stroke?
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Oropharnygeal.
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How to assess swallowing function?
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1) History: ask about symptoms of coughing, sensation of food stuck in throat, respiratory sx, nutritional and cognitive state
2) PE:watch them swallow, speech coordination Generally SLP evaluates these patients. |
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Where is NG tube feeding a problem?
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LTC facilities
Patients’ homes |
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When are PEG tubes placed?
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When the patient is in a nursing home and can't otherwise eat (nursing homes won't accept NG tube patients)
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Pill esophagitis: defn
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pills getting stuck and burning the esophagus
Can present with sudden pain with swallowing (odynophagia) NSAIDs especially |
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Pill esophagitis: prevention
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swallow pills while upright with >150 mL of liquid
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T/F There is an increased risk of GERD in elderly
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T, even though there's no increase in acid or pepsin production
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What is the cause and implication of Diminished mucosal capacity to resist damage in elderly?
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Cause:
Decreased barrier function Implication: Increased risk of peptic ulcer disease (PUD) |
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When is occult cholecystitis a concern in elderly?
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Hospitalized and dehydrated which results from changes in bile equilibrium --> sludging --> obstruction --> infection
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What should be avoided in the elderly to prevent stomach problems?
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NSAIDs
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What are small intestine changes in elderly?
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Possible decreased absorption of vitamin D. Many elders are vitamin D deficient, which contributes to reduced bone density.
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Think of what as cause for unexplained fever, abdominal pain, anorexia in hospitalized elderly?
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Secondary onset of cholecystitis in hospitalized elders. Unclear why this happens.
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What are age-associated rectal changes?
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Increased compliance and decreased sensitivity mean more fecal material is needed before urge arises.
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Constipation: defn
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<2 BMs/week + straining when pewping, hard stools, feeling of incomplete evacuate at least 25% of time
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Which muscle:
tonically active "involuntary" smooth muscle. Sympathetics stimulate, parasymp inhibits |
Internal sphincter
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Which muscle:
Skeletal muscle, blends with puborectalis muscle (part of pelvis floor), both voluntary and reflex control via the pudendal nerve (S2-4) |
External sphincter
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Prevention of constipation:
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Non pharmacologic: water, fiber, exercise, timing (take advantage of GC reflex)
Pharmacologic: many laxative choices |
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Treatment of impaction
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Manual disimpaction - if stool is distal
Rectal suppository - if mild Enema |
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Two peak incidence age ranges of Ulcerative Colitis
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Peak incidence between ages 15 and 30
Second peak between ages 50 and 80 |
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What are important sx that warrant further investigation in tx of impaction?
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Vomiting
Fever Abdominal Pain Bloody Diarrhea Co-morbidities Age |
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evidence of volume contraction
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orthostatic hypotension
poor skin turgor low urine output (oliguria) |
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Blood stool is more associated with (UC, Crohn's)
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UC
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Common meds taken by elderly that can cause diarrhea
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Mg-containing meds (for upset stomach, like mylanta); Metformin; Colchicine
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Atherosclerosis can cause what urgent bowel problem?
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Ischemic colitis
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T/F probiotics may reduce C. diff colitis
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T
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Diverticulosis Prevalence is __% by 70 years, but most don't develop symptoms.
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50
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Tx for Diverticulosis
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Fiber
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Degenerative change in submucosal veins and capillaries
Most common in right colon |
Colonic angiodysplasia
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What symptoms can Colonic angiodysplasia cause?
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Bleeding, usually recurrent and painless. But the bleeding can be severe.
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Where are most diverticulae located?
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Sigmoid colon
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Most common complication of diverticulosis
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Diverticulitis - infection
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Symptoms of Diverticulitis in middle age, how does it change with aging?
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Pain and Fever, but Fever may not be present in elderly
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Treatment of Diverticulitis
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Abx and IV fluids
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What is a typical ischemic colitis patient?
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Elderly with acute LLQ pain, blood diarrhea, h/o atherosclerosis or CAD
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Which part of bowel is most vulnerable to ischemic colitis?
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Splenic flexure
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Prevalence of adenomas in people >60 yo
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50%
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T/F CRC may present as Fe deficiency anemia
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T
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When is screening for CRC ok to be discontinued?
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Recommended until age 70 or longer if life expectancy >10 years
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How is UC presentation different in elderly?
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1) May be less extensive than in young
2) May present as severe attack with megacolon |