Disease Antibody

Question 1

celiac disease

Answer 1

positive tests for anti-transglutaminase, anti-gliadin, and anti-endomysial antibodies.

Question 2

limited scleroderma (CREST syndrome)

Answer 2

Anticentromeric antibody

Question 3

diffuse scleroderma,

Answer 3

anti–DNA topoisomerase I antibody

Question 4

primary biliary cirrhosis.

Answer 4

Antimitochondrial antibody

Question 5

adenocarcinoma of the right colon and endometrial cancer genes?

Answer 5

DNA mismatch-repair genes, such as hMSH2 and hMLH1.

Question 6

familial adenomatous polyposis syndrome & most sporadic colon cancers.

Answer 6

APC gene, a negative regulator of β-catenin in the WNT signaling pathway

Question 7

gastrointestinal stromal tumors (GIST)

Answer 7

c-KIT tyrosine kinase activity which respond well to treatment with imatinib

Question 8

hamartomatous polyps of the colon

Answer 8

Loss of the PTEN tumor-suppressor gene

Question 9

autoimmune atrophic gastritis

Answer 9

“antiparietal cell” antibodies are those directed against the acid-producing “proton pump” enzyme H +,K +-ATPase.

Question 10

hereditary nonpolyposis colorectal carcinoma (HNPCC)

Answer 10

results from defective DNA mismatch-repair genes. mutations accumulate microsatellite repeats lead to loss of transforming growth factor-β (TGF-β) receptor-mediated control of colonic epithelial cell proliferation & loss of pro-apoptotic BAX protein enhancing survival of these transformed cells.

Question 11

Ulcerative colitis associated with

Answer 11

migratory polyarthritis, ankylosing spondylitis, and primary sclerosing cholangitis.

Question 12

Crohn disease linked to

Answer 12

Mutations in the NOD2 gene

Question 13

bloody stools

Answer 13

suggests invasive bacterial infections such as hemorrhagic or enteroinvasive E. coli species, Yersinia species, Shigella, and Entamoeba histolytica.

Question 14

fetal leukocytes are present in the stool

Answer 14

higher suspicion for Salmonella, Shigella, Campylobacter, Clostridium difficile, Yersinia, enterohemorrhagic and enteroinvasive E coli, & E histolytica.

Question 15

6 hours of eating a salad (mayonnaise) suggests

Answer 15

S aureus

Question 16

8-12 hours postingestion suggests

Answer 16

Clostridium perfringens

Question 17

12-14 hours postingestion suggests

Answer 17

E coli

Question 18

primary biliary cirrhosis antibody?

Answer 18

Peak incidence in middle-aged women. Later in the disease, jaundice may increase with progressive destruction of intrahepatic bile ducts. Positivity for antimitochondrial antibody

Question 19

chronic atrophic gastritis antibody

Answer 19

Anti–parietal cell antibody is found in & gives rise to pernicious anemia.

Question 20

typically occurs in systemic sclerosis.

Answer 20

Anticentromere antibody

Question 21

can occur in various connective tissue diseases, including mixed connective tissue disease.

Answer 21

Antiribonucleoprotein antibodies

Question 22

are diagnostic of systemic lupus erythematosus

Answer 22

Anti–double-stranded DNA antibodies

Question 23

α-1-antitrypsin deficiency genes

Answer 23

The PiZZ genotype, and to a lesser extent the PiSZ and PiMZ genotypes, are associated with hepatic
MM’s are good.

Question 24

Wilson disease, genes

Answer 24

ATP7B gene mutations are present with a disorder of copper metabolism.

Question 25

hepatic adenomas. genes

Answer 25

Mutations of HNF1 are seen with maturity onset diabetes of the young (MODY) and can lead to appearance of

Question 26

hyperbilirubinemia genes

Answer 26

mutaions in UDP-glucuronyl transferase 1 (UGT1) is involved with hepatic conjugation of bilirubin

Question 27

A _______ mutation is an early event in pancreatic carcinogenesis.

Answer 27

K-RAS

Question 28

During acute pancreatitis, the extent of necrosis may be so severe that a?

Answer 28

liquefied area becomes surrounded by granulation tissue, forming a cystic mass. Because there is no epithelial lining in the cyst, however, it is best called a pseudocyst.

Question 29

Amyloid deposition may be seen in the islets of Langerhans in a patient with

Answer 29

type 2 diabetes mellitus, but generalized amyloid deposition of the pancreas is rare.

Question 30

chronic pancreatitis. Alcohol promotes

Answer 30

intracellular proenzyme activation that leads to acinar cell injury.

Question 31

Chronic alcoholism effect pancrease

Answer 31

causes secretion of protein-rich pancreatic fluid, which is inspissated and deposited in small pancreatic ducts. Ductal obstruction predisposes to acinar injury

Question 32

Annular pancreas

Answer 32

embryologic ventral and dorsal pancreatic buds do not rotate and fuse properly, the duodenum can be encircled by pancreatic tissue, producing an obstruction.may manifest at birth, in childhood, or in adulthood. ultrasound scan may show the “double bubble” sign with gastric and duodenal bulb distention with air proximal to a region of duodenal obstruction.

Question 33

An onset of pancreatitis in children suggests a genetic basis, and the history of an involved parent and grandparent suggests an

Answer 33

autosomal dominant mode of transmission.

Question 34

gene encodes for cationic trypsinogen, which, when mutated, leads to.

Answer 34

The PRSS1

resistance of trypsin to inactivation

Question 35

gene encodes for a trypsin inhibitor, and mutation can lead to

Answer 35

The SPINK1

pancreatitis, but the inheritance is autosomal recessive.

Question 36

two genes that are involved with development of pancreatic adenocarcinoma.

Answer 36

K-RAS (an oncogene) and SMAD4 (a tumor-suppressor gene)

Question 37

Borderline mucinous cystadenoma

Answer 37

Mucinous tumors of the pancreas can be completely benign, borderline, or malignant. The presence of cytologic and architectural atypia indicates the lesion is not benign, but in the absence of clearly malignant features of invasion or metastasis, the lesion fits in the borderline category.

Question 38

ectopic pancreas,

Answer 38

circumscribed, solid, tan mass. which can be found in the bowel in 2% of individuals. It may be found within a Meckel diverticulum, although in this case no diverticulum was found, and such a diverticulum is found in the ileum as a vitelline duct remnant.

Question 39

serous cystadenoma

Answer 39

well-circumscribed, 8-cm mass in the body of the pancreas that has many small fluid-filled areas. On microscopic examination shows glycogen-rich, low cuboidal cells surrounding spaces filled with clear fluid.

Question 40

pancreatic cancer tumor markers

Answer 40

CEA and CA19-9 are often present, but insensitive for early diagnosis of

Question 41

K-RAS mutations are found in more than

Answer 41

90% of pancreatic adenocarcinomas.

Question 42

The serine protease inhibitor Kazal type 1 (SPINK1) gene codes for a

Answer 42

pancreatic secretory trypsin inhibitor.

Question 43

Activation of trypsin also leads to activation of

Answer 43

Hageman factor, kallikrein, and complement that promote the vascular abnormalities in pancreatitis.

Question 44

Both SPINK1 and PRSS1 mutations carry a greatly increased risk for

Answer 44

pancreatic cancer.

Question 45

Both amylase and lipase are released in

Answer 45

pancreatitis as a consequence of trypsin activation.

Question 46

TGF-β plays a role in the

Answer 46

fibrogenesis of chronic pancreatitis.

Question 47

These species are enteroinvasive and can cause bloody diarrhea.

Answer 47

Campylobacter jejuni, Shigella, Salmonella, and Yersinia enterocolitica are all bacteria that cause diarrhea.

Question 48

Asterixis is a

Answer 48

tremor of the hand when the wrist is extended, sometimes said to resemble a bird flapping its wings. This motor disorder is characterized an inability to actively maintain a position, which is demonstrated by jerking movements of the outstretched hands when bent upward at the wrist.