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85 Cards in this Set

  • Front
  • Back
What is the ras family?
GTP binding proteins that are signal transducing oncogenes. If they get mutated, there can be a gain of function.
Germline mutations in these underlie all known inherited cancer syndromes
Tumor suppressor genes (p53)
What is the function of the Adenomatous Polyposis Coli (APC) gene product?
Causes degradation of beta-catenin, which normally enters the nucleus and activates transcription of growth-promoting genes.
What is microsatellite instability?
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.
T/F Microsatellites have an intrinsic tendency to be copied inaccurately and therefore require the DNA mismatch repair system to work.
T
What is a DNA chance that occurs in the smallest adenomas and may represent first step?
hypomethylation (leading to overactivity)
Mutations in APC gene are linked to what?
Found in small adenomas, linked to dysregulated proliferation.
Kras oncogene mutations linked to what?
Arise during the adenomatous stage and inactivate the portions of the protein involved in halting signal transduction
Mutations in p53: how does it relate to colon cancer?
Interferes with ability of p53 protein to modify gene expression in nucleus. Coincides with transition to malignancy.
________ 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.
Familial Adenomatous Polyposis (FAP)
Clinical characteristics of FAP
hundreds to thousands of colonic adenomatous polyps at an early age. Will develop colon cancer unless colon is removed.
What is Gardner syndrome?
Variant of FAP. Has typical GI involvement, but also extraintestinal lesions including osteoma, odontomas, epidermoid cysts, fibromas, desmoid tumors.
What is Turcot syndrome?
Another variant of FAP where patients also develop CNS malignancies, especially medulloblastoma.
What is Attenuated Polyposis Coli (AAPC)?
Variant of FAP where development of colon cancer isn't inevitable.
_____ 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.
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
hMLH1 and hMLH2 are associated with what disease?
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
How is HNPCC inherited?
autosomal dominant
___% of colon cancer cancers are hereditary (HNPCC, FAP)
5
HNPCC is aka
Lynch Syndrome
polyp dwell time: defn
time it takes for a single adenoma to gross invasive cancer.

About 10 years.
Most colorectal cancers arise from _____ polyps
adenomatous
Characteristics of tumors with microsatellite instability:
Where located?
Generally in proximal colon
metachronous: defn
a time interval between detection of the first lesion and detection of a subsequent primary lesion
hamartoma: defn
normal tissue elements growing in a disorganized fashion
What is MYH-associated polyposis (MAP?)
Resembles FAP in absence of family history. It's inherited in autosomal recessive fashion.
Lynch syndrome: Amsterdam Criteria (3:2:1 rule)
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.
name 4 colon cancer screening tests
Fecal Occult Blood Test (FOBT)

Sigmoidoscopy

Double Contrast Barium Enema

Colonoscopy
name 4 factors that put someone into a high risk group
Positive Family History
Inherited polyp syndromes
Inflammatory Bowel Disease
Previous adenoma/ Cancer
What is a lower risk family history?
Single first degree relative diagnosed age >60 with cancer or adenomas.
Two second degree relatives with CRC
For someone whose father had CRC at age 65, when should screening begin?
Age 40 (lower risk family history)
What is a high risk family history?
Single first degree relative diagnosed with cancer or adenomas at age < 60.
2 first degree relatives with colon cancer at any age.
For someone whose mother and sister both had CRC at age 50 and 34, respectively, when should colonoscopy screening begin?
Begin screening at age 40 or 10 years younger than the earliest diagnosis in the family.
Colonoscopy every 5 years.
What are risk factors for CRC development in a person with IBD?
extent of colonic involvement

duration of disease
Colonoscopic Surveillance every ___ years is recommended for individuals with IBD
1-3
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.
3; 3-6
Virtual colonoscopy: pros and cons
Pros: Non-invasive, no sedation, better safety profile than colonoscopy

Cons: Still requires prep and is uncomfortable
2 most common risk factors for colon cancer
1) Age
2) family history
The screening of at-risk individuals usually involves colonoscopy initiated ____ years before the index case was diagnosed with colon cancer
10
What is the next step for a + FOBT?
colonoscopy
What is the problem with sigmoidoscopy?
only detects 1/2 of CRC or polyps

only goes to splenic flexus

T/F the only option recommended for high-risk groups is colonoscopy
T
T/F Drug reactions are extremely important to consider in elderly patients' GI complaints
T
hyposmia: defn and important
decrease in olfaction, occurs in up to 40% of people. may affect appetite
Xerostomia: defn and importance
dry mouth. very common medication side effect.

adversely effects swallowing.

Anticholinergic agents of all types notorious for this.
What is the difference between oropharyngeal dysphagia and esophageal dysphagia?
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.
Common causes of esophageal dysphagia
1) extrinsic compression (thyroid, spine, other masses)

2) Dysmotility (often intermittent symptoms)
What type of dysphagia is the kind caused by stroke?
Oropharnygeal.
How to assess swallowing function?
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.
Where is NG tube feeding a problem?
LTC facilities
Patients’ homes
When are PEG tubes placed?
When the patient is in a nursing home and can't otherwise eat (nursing homes won't accept NG tube patients)
Pill esophagitis: defn
pills getting stuck and burning the esophagus

Can present with sudden pain with swallowing (odynophagia)

NSAIDs especially
Pill esophagitis: prevention
swallow pills while upright with >150 mL of liquid
T/F There is an increased risk of GERD in elderly
T, even though there's no increase in acid or pepsin production
What is the cause and implication of Diminished mucosal capacity to resist damage in elderly?
Cause:
Decreased barrier function

Implication:
Increased risk of peptic ulcer disease (PUD)
When is occult cholecystitis a concern in elderly?
Hospitalized and dehydrated which results from changes in bile equilibrium --> sludging --> obstruction --> infection
What should be avoided in the elderly to prevent stomach problems?
NSAIDs
What are small intestine changes in elderly?
Possible decreased absorption of vitamin D. Many elders are vitamin D deficient, which contributes to reduced bone density.
Think of what as cause for unexplained fever, abdominal pain, anorexia in hospitalized elderly?
Secondary onset of cholecystitis in hospitalized elders. Unclear why this happens.
What are age-associated rectal changes?
Increased compliance and decreased sensitivity mean more fecal material is needed before urge arises.
Constipation: defn
<2 BMs/week + straining when pewping, hard stools, feeling of incomplete evacuate at least 25% of time
Which muscle:
tonically active "involuntary" smooth muscle. Sympathetics stimulate, parasymp inhibits
Internal sphincter
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
Prevention of constipation:
Non pharmacologic: water, fiber, exercise, timing (take advantage of GC reflex)

Pharmacologic: many laxative choices
Treatment of impaction
Manual disimpaction - if stool is distal

Rectal suppository - if mild

Enema
Two peak incidence age ranges of Ulcerative Colitis
Peak incidence between ages 15 and 30
Second peak between ages 50 and 80
What are important sx that warrant further investigation in tx of impaction?
Vomiting

Fever

Abdominal Pain

Bloody Diarrhea

Co-morbidities

Age
evidence of volume contraction
orthostatic hypotension

poor skin turgor

low urine output (oliguria)
Blood stool is more associated with (UC, Crohn's)
UC
Common meds taken by elderly that can cause diarrhea
Mg-containing meds (for upset stomach, like mylanta); Metformin; Colchicine
Atherosclerosis can cause what urgent bowel problem?
Ischemic colitis
T/F probiotics may reduce C. diff colitis
T
Diverticulosis Prevalence is __% by 70 years, but most don't develop symptoms.
50
Tx for Diverticulosis
Fiber
Degenerative change in submucosal veins and capillaries

Most common in right colon
Colonic angiodysplasia
What symptoms can Colonic angiodysplasia cause?
Bleeding, usually recurrent and painless. But the bleeding can be severe.
Where are most diverticulae located?
Sigmoid colon
Most common complication of diverticulosis
Diverticulitis - infection
Symptoms of Diverticulitis in middle age, how does it change with aging?
Pain and Fever, but Fever may not be present in elderly
Treatment of Diverticulitis
Abx and IV fluids
What is a typical ischemic colitis patient?
Elderly with acute LLQ pain, blood diarrhea, h/o atherosclerosis or CAD
Which part of bowel is most vulnerable to ischemic colitis?
Splenic flexure
Prevalence of adenomas in people >60 yo
50%
T/F CRC may present as Fe deficiency anemia
T
When is screening for CRC ok to be discontinued?
Recommended until age 70 or longer if life expectancy >10 years
How is UC presentation different in elderly?
1) May be less extensive than in young

2) May present as severe attack with megacolon