Path - Small Intestine and Colon Flashcards

1
Q

extraintestinal manifestations of juvenile polyposis

A

congenital malformations and digital clubbing

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2
Q

diffusely flattened (atrophic) villi w/ intraepithelial CD8 T cells and loss of mucosal and brush border surface

A

celiac dz

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3
Q

pathogenesis of graft vs host dz

A

donor T cells target antigens on recipient’s GI epithelial cells

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4
Q

sporadic colon cancer: typical or mucinous adenocarcinoma?

  • 70-80% of cases
  • 10-15% of cases
  • 5-10% of cases
A

70-80%: typical

10-15%: mucinous

5-10%: mucinous

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5
Q

sx of adult celiac dz vs pediatric celiac dz vs non-classic pediatric celiac dz

A

adult: chronic diarrhea, bloating, fatigue, anemia
pediatric: chronic diarrhea, irritability, abd distension, anorexia, weight loss

non-classic pediatric: abd pain, n/v, bloating, constipation

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6
Q

target gene of familial adenomatous polyposis

A

APC

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7
Q

acanthocytic red cells (burr cells)

A

abetalipoproteinemia

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8
Q

presence of dense subepithelial collagen later, increased intraepithelial lymphocytes, and mixed inflammatory infiltrate

A

collagenous colitis

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9
Q

what is the defect(s) of nutrient absorption in chronic pancreatitis

A

intraluminal digestion

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10
Q

demographic IBS

A

b/w ages 20-40

strong female predominance

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11
Q

extraintestinal manifestations of classic familial adenomatous polyposis

A

congenital retinal pigmented epithelium hypertrophy

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12
Q

compare genetic factor contribution b/w crohn dz and ulcerative colitis

A

crohn dz: genetic factors are more dominant, 50% in monozygotic twins

UC: 15% in monozygotic twins

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13
Q

how does ulcerative colitis begin in the GI tract and subsequently travel

A

begins in the rectum and extends proximally in a continuous fashion to involve all or part of the colon

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14
Q

extraintestinal manifestations of gardner syndrome (familial adenomatous polyposis)

A

osteomas, thyroid and desmoid tumors, skin cysts

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15
Q

fibrous bridge b/w viscera of the intestines

A

adhesion

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16
Q

development of numerous mucosal lymphoid follicles

A

diversion colitis

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17
Q

when does abetalipoproteinemia present

A

in infancy

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18
Q

where are colonic adenocarcinomas distributed in the colon

A

approximately equal length over the entire length of colon

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19
Q

compare clinical features b/w right sided and left sided colorectal adnocarcinomas

A

right sided: fatigue and weakness due to iron deficiency anemia

left sided: occult bleeding, changes in bowel habits, cramping and LLQ abd pain

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20
Q

mesenteric fat extending around serosal surface (creeping fat)

A

crohn disease

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21
Q

diagnostic criteria for IBS

A

abd pain or discomfort at least 3 days per month over 3 months with improvement following defecation and change in stool frequency or form

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22
Q

inheritance pattern of MYH-associated polyposis

A

AR

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23
Q

sx of autoimmune enteropathy

A

severe, persistent diarrhea and autoimmune dz

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24
Q

age of presentation of juvenile polyposis

A

less than 5 y/o

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25
Q

two most important prognostic factors for colonic adenocarcinoma

A
  1. depth of invasion

2. presence of LN mets

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26
Q

hereditary nonpolyposis colorectal cancer: typical or mucinous adenocarcinoma?

A

mucinous

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27
Q

two types of microscopic colitis

A

collagenous colitis and lymphocytic colitis

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28
Q

familial adenomatous polyposis: typical or mucinous adenocarcinoma?

A

typical

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29
Q

inheritance pattern of hereditary nonpolyposis colorectal cancer

A

AD

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30
Q

compare location in the GI tract b/w crohn disease and ulcerative colitis

A

crohn: any area of GI tract, transmural

UC: limited to colon and rectum, only into mucosa and submucosa

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31
Q

physical effects to the intestine from crohn disease

A

fibrosing strictures, fistulae, perforations

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32
Q

diarrhea due to failure of nutrient absorption that is relieved by fasting

A

malabsorptive diarrhea

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33
Q

target gene of sporadic colon cancer

  • 70-80% of cases
  • 10-15% of cases
  • 5-10% of cases
A

70-80%: APC

10-15%: MSH2, MLH1

5-10%: MLH1, BRAF

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34
Q

clinical features of microscopic colitis (both collagenous and lymphocytic)

A

chronic, nonbloody, watery diarrhea without weight loss

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35
Q

what is the defect(s) of nutrient absorption in disaccharidase deficiency

A

terminal digestion

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36
Q

describe the gliadin induced damage that occurs in celiac dz

A

gliadin peptides induce IL-15 expression –> activates CD8T cells that express NKG2D –> attack MIC-A receptor on enterocytes –> cause epithelial damage –> enhances passage of gliadin peptides into lamina propria –> peptides interact w/ HLA-DQ2 or D8 on APCs –> stimulates CD4 T cells –> more tissue damage

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37
Q

what is the defect(s) of nutrient absorption in whipple dz

A

lymphatic transport

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38
Q

NOD2 polymorphism

A

crohn disease

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39
Q

predominant site of familial adenomatous polyposis

A

none

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40
Q

permanent entrapment of bowel segment due to venous stasis and edema

A

incarcerated hernia

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41
Q

GI lesions in peutz-jeghers syndrome

A

arborizing polyps most commonly in the small intestine

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42
Q

define Tis, T1, T2, T3, and T4 in regards to classification of colorectal carcinomas

A

Tis: in situ dysplasia or intramucosal carcinoma

T1: invades submucosa

T2: invades into, but not through, muscularis propria

T3: invades through muscularis propria

T4: penetrates visceral peritoneum or invades adjacent organs

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43
Q

two types of IBD

A

crohn disease and ulcerative colitis

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44
Q

clinical sx of intestinal obstruction

A

abd distension, vomiting, pain, constipation, tympanic by percussion

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45
Q

define MX, M0, M1 in regards to classification of colorectal carcinoma distant mets

A

MX: distant mets cannot be assessed
M0: no distant mets
M1: distant mets

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46
Q

describe how fasting affects each type of diarrhea

A

secretory: persists
exudative: persists
osmotic: lessens (abates)
malabsorptive: stops

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47
Q

genetic defect:

SMAD4, BMPR1A, TGF-B signaling pathway

A

juvenile polyposis

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48
Q

genetic defect:

APC/WNT pathway

A

familial adenomatous polyposis (FAP)

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49
Q

pathogenesis of IBD

A

combined effects of:

  • alterations in host interactions with intestinal microbiotica
  • intestinal epithelial dysfunction
  • aberrant mucosa immune responses
  • altered composition of gut microbiome
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50
Q

extraintestinal manifestations of peutz-jeghers syndrome

A

pigmented macules, risk of colon, breast, lung, pancreatic, and thyroid CA

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51
Q

skip lesions

A

crohn disease

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52
Q

most common malignancy of GI tract

A

adenocarcinoma

53
Q

pathogenesis of IBS

A

poorly defined, but related to:

psychologic stressors, diet, perturbation of gut microbiome, increased enteric sensory responses to GI stimuli, abnormal GI motility

54
Q

what are the only two diarrheal dzs that have defects in intraluminal digestion

A

chronic pancreatitis and CF

55
Q

predominant site of involvement in sporadic colon cancer

  • 70-80% of cases
  • 10-15% of cases
  • 5-10% of cases
A

70-80%: left side

10-15%: right side

5-10%: right side

56
Q

complete twisting of a bowel loop about its mesenteric vascular base

A

volvulus

57
Q

morphologic features of colonic diverticular dz

A

small, flask like outpouchings that occur in regular distribution alongside taeniae coli, most common in sigmoid colon

58
Q

diarrhea due to excessive osmotic forces exerted by unabsorbed luminal solutes that abates w/ fasting

A

osmotic diarrhea

59
Q

define NX, N0, N1, and N2 in regards to classification of colorectal carcinoma mets to LNs

A

NX: LN cannot be assessed
N0: no regional LN mets
N1: mets in 1-3 regional LNs
N2: mets in 4+ regional LNs

60
Q

clinical features crohn disease

A

intermittent attacks of relatively mild diarrhea, fever, abd pain

20% pts w/ RLQ pain, fever, and bloody diarrhea

61
Q

arterial and venous compromise due to pressure at the neck of a hernia

A

strangulation hernia

62
Q

what is the defect(s) of nutrient absorption in abetalloproteinemia

A

transepithelial transport

63
Q

clinical features of ulcerative colitis

A

bloody diarrhea with stringy, mucoid material, lower abd pain, cramping

64
Q

diarrhea due to inflammatory disease leading to purulent, bloody stools that persist during fasting

A

exudative diarrhea

65
Q

clinical features of colonic diverticular dz

A

most remain asymptomatic

20% have intermittent cramping, continuous lower abd discomfort, constipation, distention, or sensation of never being able to completely empty the rectum

66
Q

class II HLA-DQ2 and HLA-DQ8 are associated with

A

celiac dz

67
Q

what is the defect(s) of nutrient absorption in celiac dz

A

terminal digestion and transepithelial transport

68
Q

compare presence of granulomas b/w crohn disease and UC

A

crohn: granulomas

UC: no granulomas

69
Q

compare colonic adenocarcinoma tumors in the proximal colon and distal colon

A

proximal: polypoid, exophytic masses
distal: annular lesions

70
Q

what is IPEX and what does it stand for

A

a severe familial form of autoimmune enteropathy

  • immune dysregulation
  • polyendocrinopathy
  • enteropathy
  • x-linked
71
Q

extraintestinal manifestations of turcot syndrome (familial adenomatous polyposis)

A

medulloblastoma, glioblastoma

72
Q

intestinal segment telescoping into immediately distal segment

A

intussusception

73
Q

describe the classic adenoma-carcinoma sequence that causes colonic adenocarcinoma

A

mutation in APC –> accumulation of B-catenin and translocation to nucleus –> forms complex w/ TCF and activates transcription of genes including MYC and cyclin D1 –> promoted proliferation

74
Q

extraintestinal manifestations of crohn disease

A
  1. uveitis
  2. migratory polyarthritis
  3. sacroiliitis
  4. ankylosing spondylitis
  5. erythema nodosum
  6. clubbing of fingertips
75
Q

clinical features of graft vs host dz

A

watery diarrhea that can become bloody in severe cases

76
Q

age of presentation of familial adenomatous polyposis

  • classic
  • attenuated
  • gardner syndrome
  • turcot syndrome
  • MYH-associated polyposis
A
  • classic: 10-15
  • attenuated: 40-50
  • gardner syndrome: 10-15
  • turcot syndrome: 10-15
  • MYH-associated polyposis: 30-50
77
Q

ATG16L1 and IRGM polymorphisms

A

crohn disease

78
Q

dietary factors associted with colonic adenocarcinoma

A

low intake of unabsorbable vegetable fiber

high intake of refined carbohydrates and fats

79
Q

which IBD has risk of toxin megacolon

A

ulcerative colitis

80
Q

what is the defect(s) of nutrient absorption in viral, bacterial, and parasitic gastroenteritis

A

terminal digestion and transepithelial transport

81
Q

age of presentation of peutz-jeghers syndrome

A

10-15

11 is most common

82
Q

predominant site of involvement in hereditary nonpolyposis colorectal cancer

A

right side

83
Q

molecular defect in sporadic colon cancer

  • 70-80% of cases
  • 10-15% of cases
  • 5-10% of cases
A

70-80%: APC/WNT pathway

10-15%: DNA mismatch repair

5-10%: hypermethylation

84
Q

sx of abetalipoproteinemia

A

failure to thrive, diarrhea, steatorrhea

85
Q

TTG antibodies

A

celiac dz

86
Q

what is the defect(s) of nutrient absorption in cystic fibrosis

A

intraluminal digestion

87
Q

compare ulcers b/w crohn disease and UC

A

crohn: deep, knife life ulcers

UC: superficial, broad-based ulcers

88
Q

causes of intussusception in young children vs older children/adults

A

children: spontaneous or associated w/ viral infection or rotavirus vaccine

older children/adults: intraluminal mass or tumor

89
Q

cobblestone appearance of mucosa w/ thickened intestinal wall

A

crohn disease

90
Q

most common cause of intestinal obstruction in children under 2

A

intussusception

91
Q

what is the only diarrheal dz that has a defect in terminal digestion

A

disacchardiase deficiency

92
Q

effect of NSAIDs on risk for colonic adenocarcinoma

A

they REDUCE risk

  • carcinomas use COX2 to make prostaglandins for proliferation of the polyp
  • NSAIDs inhibit COX2
93
Q

sx of environmental enteropathy

A

malabsorption, malnutrition, stunted growth, defective intestinal mucosal immune function

94
Q

what is the defect(s) of nutrient absorption in IBD

A

intraluminal digestion and terminal digestion and transepithelial transport

95
Q

molecular defect in MYH-associated polyposis

A

DNA mismatch repair

96
Q

subepidermal blisters and granular IgA deposits

A

celiac dz

97
Q

cause of diversion colitis

A

post-surgical ostomy with blind distal segment of colon from which normal fecal flow is diverted

98
Q

normal thickness subepithelial collagen layer and great increase in intrapeithelial lymphocytes

A

lymphocytic colitis

99
Q

genetic defect:

STK11; AMP kinase related pathways

A

peutz-jeghers syndrome

100
Q

FOXP3 mutation

A

IPEX (familial form of autoimmune enteropathy)

101
Q

dermatitis herpetiformis is associated with

A

celiac dz

102
Q

what is the only diarrheal dz with a defect in lymphatic transport

A

whipple dz

103
Q

what two pathways have been describes that can lead to colonic adenocarcinoma

A

APC/B-catenin pathway

microsatellite instability pathway

104
Q

most frequent cause of intestinal obstruction worldwide vs in the US

A

worldwide: hernias

US: adhesions

105
Q

what external triggers can re-activate crohn disease

A

physical or emotional stress, dietary items, and cigarette smoking

106
Q

crohn disease can mimic what disease processes

A

appendicitis or bowel perforation

107
Q

noncaseating granulomas in intestinal wall

A

crohn disease

108
Q

paneth cell metaplasia

A

crohn disease

109
Q

target gene of MYH-associated polyposis

A

MYH

110
Q

predominant site of MYH-associated polyposis

A

none

111
Q

HNFA polymorphism

A

ulcerative colitis

112
Q

celiac dz most often affects what part of the GI tract

A

2nd part of duodenum to the proximal jejunum

113
Q

compare sx b/w congenital lactase deficiency and acquired lactase deficiency

A

congenital: explosive diarrhea w/ watery, frothy stools and abd distension (after milk ingestion)
acquired: abd fullness, diarrhea, flatulence (after milk digestion)

114
Q

protrusion of serosa lined pouch of peritoneum that can trap bowel segments externally

A

hernia

115
Q

molecular defect in hereditary nonpolyposis colorectal caner

A

DNA mismatch repair

116
Q

inheritance pattern of familial adenomatous polyposis

A

AD

117
Q

target gene of hereditary nonpolyposis colorectal cancer

A

MSH2, MLH1

118
Q

MYH-associated poyposis: typical or mucinous adenocarcinoma?

A

mucinous

119
Q

isotonic (compared to plasma) stool that persists during fasting

A

secretory diarrhea

120
Q

“napkin-ring” constrictions

A

adenocarcinomas in distal colon

121
Q

what is the defect(s) of nutrient absorption in autoimmune enteropathy

A

terminal digestion and transepithelial transport

122
Q

GI lesions in familial adenomatous polyposis

A

multiple adenomas

123
Q

what is the defect(s) of nutrient absorption in environmental enteropathy

A

terminal digestion and transepithelial transport

124
Q

most common areas for volvulus

A

redundant loops of sigmoid colon

125
Q

chronic, relapsing abdominal pain, bloating and changes in bowel habits

A

IBS

126
Q

child with mucocutaneous pigmentation and multiple hamartomatous polyps and intussusception

A

peutz-jeghers syndrome

127
Q

lot of blood per rectum with malformed submucosa or mucosal vessels in cecum or right colon, 6th decade of life

A

angiodysplasia

128
Q

celiac dz is most often associated with what malignancy

A

T cell lymphoma

129
Q

erythema nodosum is associated with

A

crohn dz