cdiff, apendicitis, congenital_embryonic, CF, celiac - Sheet1

Question 1

What is Clostridium Difficile (C. diff) colitis?

Answer 1

Colonic inflammation related to C. diff infection.

Question 2

What are the risk factors for C. diff colitis?

Answer 2

Hospitalization, antibiotic use, immunosuppression.

Question 3

What is the mechanism of C. diff colitis?

Answer 3

Disruption of normal colonic bacterial flora and ingestion of C. diff spores -> C. diff vegetates, multiplies, secretes toxins -> breakdown of the mucosal layer and inflammation of the colon, potentially leading to toxic megacolon.

Question 4

What are the manifestations of C. diff colitis?

Answer 4

Diarrhea, fever, abdominal pain, severe leukocytosis.

Question 5

How is C. diff colitis diagnosed?

Answer 5

H&P, C. diff stool culture, abdominal X-ray/CT.

Question 6

What is appendicitis?

Answer 6

Inflammation of the appendix, most common cause of emergency abdominal surgeries.

Question 7

What are the risk factors for appendicitis?

Answer 7

Age 10-30 years old.

Question 8

What are the complications of appendicitis?

Answer 8

Perforation, peritonitis, abscess.

Question 9

What is the mechanism of appendicitis?

Answer 9

Accumulation of feces causes obstruction, leading to vascular engorgement, mucus & bacterial accumulation -> gangrene -> perforation -> peritonitis.

Question 10

What are the manifestations of appendicitis?

Answer 10

Dull periumbilical pain that shifts to the RLQ, nausea/vomiting, anorexia, low-grade fever, localized tenderness, rebound tenderness with guarding.

Question 11

How is appendicitis diagnosed?

Answer 11

H&P, CT scan.

Question 12

What is cleft lip/palate?

Answer 12

Embryonic developmental anomalies of the lip or oral palate, which can range in severity. Can be isolated defects or part of a genetic disorder.

Question 13

What are the risk factors for cleft lip/palate?

Answer 13

Asian/Native American race, maternal smoking, alcohol use, steroid/statin use, folate deficiency, male gender (cleft lip), female gender (cleft palate).

Question 14

What is the mechanism of cleft lip?

Answer 14

Incomplete fusion of the nasomedial or intermaxillary process during the 4th week of embryonic development.

Question 15

What is the mechanism of cleft palate?

Answer 15

Cleft palate can occur with or without cleft lip, with defects including fissures affecting the uvula, soft palate, and may include the nostril and hard palate.

Question 16

What are the manifestations of cleft lip/palate?

Answer 16

Oral facial abnormalities, inability to suck, poor feeding.

Question 17

How is cleft lip/palate diagnosed?

Answer 17

Often identified during prenatal ultrasounds. Imaging is done after birth to assess the extent of the deformity.

Question 18

What is esophageal atresia?

Answer 18

A congenital malformation of the esophagus, resulting in either an esophageal-tracheal fistula or the esophagus terminating into a pouch.

Question 19

What are the risk factors for esophageal atresia?

Answer 19

Maternal exposure to methimazole, exogenous sex hormones, infectious diseases, alcohol, smoking, maternal diabetes, advanced maternal age, maternal employment in agriculture.

Question 20

What are the manifestations of esophageal atresia?

Answer 20

Excessive maternal amniotic fluid (baby cannot swallow), excessive drooling, inability to swallow secretions, choking with feeding, respiratory distress.

Question 21

How is esophageal atresia diagnosed?

Answer 21

Ultrasound, radiographic studies.

Question 22

What is Meckel diverticulum?

Answer 22

A congenital outpouching of the small intestine (typically in the ileum) due to leftover vitelline duct.

Question 23

What is the mechanism of Meckel diverticulum?

Answer 23

The vitelline duct, which connects the fetus to the yolk sac, is normally absorbed by the 7th week of pregnancy. If it is not fully absorbed, a Meckel’s diverticulum develops.

Question 24

What are the manifestations of Meckel diverticulum?

Answer 24

Most cases are asymptomatic, but it may occasionally present with painless rectal bleeding.

Question 25

How is Meckel diverticulum diagnosed?

Answer 25

H&P, nuclear medicine scan. It is often found when patients develop intestinal obstruction or intussusception.

Question 26

What is Hirschsprung disease?

Answer 26

Congenital megacolon, the most common cause of colonic obstruction in infants.

Question 27

What are the risk factors for Hirschsprung disease?

Answer 27

Male gender, sibling with Hirschsprung disease, other inherited conditions (Down syndrome, congenital heart disease).

Question 28

What is the mechanism of Hirschsprung disease?

Answer 28

Inherited mutation causing the absence of parasympathetic intrinsic ganglion cells in the submucosa and myenteric plexuses, leading to the absence of peristalsis.

Question 29

What are the manifestations of Hirschsprung disease?

Answer 29

Delayed passage of meconium (typically diagnosed within 72 hours of birth), poor feeding, poor weight gain, progressive abdominal distention.

Question 30

How is Hirschsprung disease diagnosed?

Answer 30

H&P, radiocontrast enema, anorectal manometry, rectal biopsy.

Question 31

What is cystic fibrosis?

Answer 31

An autosomal recessive disease that impacts multiple organ systems, including the GI tract.

Question 32

What is the mechanism of cystic fibrosis?

Answer 32

Dysfunction of the CF transmembrane regulator protein leads to defective Cl- and Na+ ion channels. This causes reduced clearance from intestines and glands, resulting in mucous obstruction of the pancreatic ducts, blocking enzyme flow, causing malabsorption and fibrotic changes in the pancreas and intestines.

Question 33

What are the manifestations of cystic fibrosis?

Answer 33

Malabsorption of food leading to “bulky” stools, weight loss, and severe cramping abdominal pain.

Question 34

What other organ systems are affected in cystic fibrosis?

Answer 34

The intestines, pancreas, and hepatobiliary system.

Question 35

How is cystic fibrosis diagnosed?

Answer 35

H&P, serum immunoreactive trypsinogen tests (newborn screening), sweat test, and fecal fat measurements.

Question 36

What is celiac disease?

Answer 36

An autoimmune disease that damages the small intestine epithelia when gluten is ingested.

Question 37

What is the mechanism of celiac disease?

Answer 37

Ingestion of gluten causes immune-mediated damage to the small intestine epithelia, often resulting in lactose intolerance.

Question 38

What are the risk factors for celiac disease?

Answer 38

First-degree relatives with the disease, Type I diabetes, autoimmune thyroid or liver disease, Down syndrome, Turner syndrome, Williams disease, selective IgA deficiency, Addison’s disease.

Question 39

What is the genetic association of celiac disease?

Answer 39

Strong genetic predisposition associated with human leukocyte antigen DQ2 and DQ8.