GI Boards! Flashcards

Question

What is the mechanism of action of biliary/TPN stasis?

Answer 1

lack of GB stimulation leads to decreased acidification of bile and increased precipitation of calcium salts

Answer 2

Decreased conjugation activity of UGT1A1

Answer 3

increased deconjugation of previously conjugated bilirubin which leads to increased production of stones Can be seen in E coli and helminthic infections

Answer 4

Sepsis Gastroenteritis Trauma Extensive burns Shock IV nutrition and prolonged fasting Lupus Kawasaki Polyarteritis Nodosa CHF

Answer 5

EBV Hep A CMV Salmonella Staph aureus Plasmodium

Answer 6

Chronic Acalculous cholecystitis or biliary dyskinesia Chronic RUQ pain with normal labs and imaging Dx: HIDA scan before and after fatty meal or cholecystikinin to calculate GB EF (<35% is abnormal)

Answer 7

Circulates bound to albumin and then is selectively imported into hepatocytes where it is conjugated to glucoronic acid to make it water soluble by UGT

Answer 8

Rotor Syndrome AR, absent OATP1B Episodic jaundice precipitated by pregnancy or steroids, no treatment CONJUGATED hyperbili, normal liver function, INCREASED urine total coproporphyrin

Answer 9

Dubin-Johnson Syndrome Defect in ABCC2 gene, AR Mutations in MRP-2 Presents with chronic, low grade, nonpruritic jaundice, mild hepatomegaly, scleral icterus Increased in use of OCPs and pregnancy

Answer 10

50% conjugated and unconjugated hyperbili Normal liver function No hemolysis Normal urine total coproporphyrin Biopsy not required but tissue with be BLACK

Answer 11

Gilbert Syndrome, AR Defective conjugation of bile

Answer 12

Crigler-Najjar Syndrome, AR No enzyme activity in Type I and < 10% activity in Type II Type I is high risk of kernicterus

Answer 13

Lifeling phototherapy for 8-12 hours per day Exchange transfusions Consider liver transplant

Answer 14

Lifelong Phenobarbitol therapy to induce remaining UGT1A1 activity to conjugate bilirubin Oral binding agents like cholestyramine, calcium phosphate to prevent enterohepatic reuptake of bilirubin

Answer 15

A1AT deficiency AR, MM is normal phenotype ZZ is A1AT DEF Counsel against smoking

Answer 16

Galactosemia Consider in kids with absent red reflexes/cataracts and neonates with E coli sepsis Galactose is usually present in the urine as increased reducing substances Long term side effects are mental retardation and premature ovarian failure regardless of compliance with diet

Answer 17

Tyrosinemia Increased urine succinylacetone Normal Factor V and VIII so coagulopathy is not usually responsive to Vitamin K Treat with NTBC - an inhibitor of an enzyme in the tyrosine degradation pathway Restrict tyrosine and phenylalanine from diet

Answer 18

PFIC 1 Growth failure and diarrhea Presents in neonatal period or later After failure of pharmacologic therapy in PFIC-1 and -2, the most appropriate intervention for relieving pruritus is a biliary diversion procedure

Answer 19

PFIC II Mutation in BSEP affecting bile salt transport into canaliculis Can have severe pruritis High risk for hepatocellular carcinoma After failure of pharmacologic therapy in PFIC-1 and -2, the most appropriate intervention for relieving pruritus is a biliary diversion procedure. Both procedures decrease the enterohepatic circulation of bile acids and hence relieve pruritus

Answer 20

PFIC III Mutation in gene encoding transporter MDR3 which affects secretion of phosphatidylcholine secretion into bile canaliculi Can present later in life

Answer 21

Most important is HIV status. Those infected with Hep C and HIV have double the risk of vertical transmission than those without HIV Mothers HCV viral load at time of delivery High maternal ALT before conception and at time of delivery can increase risk Hep C virus genotype is not a risk factor Cracked nipples can be a contraindication to breastfeeding because of risk of transmission of HCV contaminated breast milk

Answer 22

Stool pH Will be low abdominal distention, nonbloody diarrhea, poor weight gain Can also have a positive reducing substances in those with glucose, fructose, lactose, and galactose malabsorption

Answer 23

290-2 (stool Na + stool K) < 50 is a secretory diarrhea. This persists despite fasting. Greater than 100 is an osmotic diarrhea

Answer 24

Sucrase Isomaltase deficiency AR Sucrose = glucose + fructose Diagnose via sucrose breath test or measure sucrose-isomaltase activity from intestinal biopsy Reducing substances are only sometimes positive because sucrose is not a reducing substance but colonic bacteria may break it down to glucose or fructose

Answer 25

Respiratory and enteric infections, particularly cryptosporidium Treat with nitazoxanide plus azithro Can invade the biliary tract and cause RUQ pain, increased LFTs/Bili/GGT Can lead to cholangitis, cirrhosis, cryptosporidium

Answer 26

They disrupt prostaglandin production which leads to decreased production of bicarb and mucin which help to protect the mucosal layer in the stomach

Answer 27

It is recommended that testing only be performed at least 2 weeks after stopping a PPI and 4 weeks after stopping antibiotics

Answer 28

Most common esophageal web Distal esophagus Associated with hiatal hernia and EoE Dx: Esophagram or Endoscopy Tx: dilation or resection

Answer 29

30-80 mm Hg Striated muscle

Answer 30

Esophageal spasm LES relaxation is normal Treatment with Ca channel blockers or anticholinergics

Answer 31

Nutcracker esophagus

Answer 32

Double and right aortic arch (when ligamentum arteriosum compresses the esophagus) Aberrant right subclavian artery MRA is best modality for diagnosis

Answer 33

increased resp/GI infections hip and spine fractures iron deficiency anemia hypomagnesemia hyperGASTRINemia with polyps and atrophic gastritis

Answer 34

Replacement of squamous epithelium in the distal esophagus with metaplastic columnar epithelium Presence of intestinal type epithelium is associated with an increased risk of esophageal adenocarcinoma

Answer 35

Adult Recommendations: No dysplasia: scope every 3-5 years Low-grade dysplasia: every 6-12 months High-grade dysplasia: every 3 months

Answer 36

Herpetic vesicles in the first 2 days Volcano ulcers - distinct round lesions with yellow borders, after a few days Histology: - nuclear inclusions - multinucleate giant cells - prominent mononuclear cell infiltrates

Answer 37

Ulcers similar to HSV but deeper and more linear in the esophagus Basophilic nuclear inclusions from edge of ulcer Associated with hypertrophic gastropathy - Menetrier's Disease

Answer 38

"Giant ulcers" seen in primary HIV infection

Answer 39

Upper GI series can show significant lymphadenopathy which can displace the esophagus

Answer 40

Megaesophagus

Answer 41

1. Topical steroids - Fluticasone 880mcg/day or Viscous budesonide 1-2 mg BID 2. Directed elimination diet - dictated by food allergies found on skin testing 3. 6/7 food elimination diet - mlk, soy, egg, wheat, peanut, treenut, fish/shellfish 4. Elemental diet 5. PPI-REE

Answer 42

FPIES Treatment is to avoid triggers (can potentially do a food challenge test) Usually outgrown once toddler age Non-IgE mediated

Answer 43

Acidic agents limits penetration by formin an eschar so damage is to the superficial mucosa Acidic household solutions include toilet bowl cleaners, rust removers, and swimming pool cleaners acidic solutions are unpalatable, resulting in gagging and potential aspiration and airway trauma.

Answer 44

Alkaline agents very rapid transmural inflammation and edema with risk of perforation bases are tasteless and more likely to cause esophageal trauma because a large amount is swallowed Household alkaline solutions include oven and drain cleaners, dishwashing detergents, and hair straighteners

Answer 45

Ingested object that is sharp, long > 5 cm High powered magnet Disk battery in the esophagus Signs of airway compromise Evidence of esophageal obstruction

Answer 46

1. Gastrin 2. Somatostatin 3. Histamine 4. Atrial natriuretic peptide and melatonin

Answer 47

Secrete intrinsic factor and gastric acid Pink on H&E

Answer 48

Secrete pepsinogen I and II Blue on H&E Base of the glands

Answer 49

Produce protective mucus and line the primitive gastric crypts

Answer 50

MOA: vestibular suppression, anti-ACh effect, H1 antagonist Indications: motion sickness SE: sedation, anti-Ach effects

Answer 51

MOA: D2 antagonist and H1 antagonist Indication: chemo-induced nausea SE: anti-ACh and extrapyramidal effects

Answer 52

MOA: D2 antagonist at CTZ and 5-HT4 agonist in the gut Indications: gastroparesis, GERD, chemo-induced nausea SE: irritability, extrapyramidal effects

Answer 53

5-HT3 antagonist at CTZ and decreased vagal afferents in the gut Good for chemo or post op nausea/vomiting SE: headache

Answer 54

NK1 antagonist on emesis program SE: fatigue, dizziness, and diarrhea

Answer 55

Vestibular suppression and anti-ACh Can have sedation and anti-ACh effects

Answer 56

D2 antagonish at CTZ and anxiolytic action and sedation SE: hypotension, sedation, extrapyramidal side effects

Answer 57

5-HT1b/1d agonists that induce cerebral vasoconstriction and relaxes the gastric fundus SE: burning in the chest and neck

Answer 58

H1 antagonist and 5-HT2 antagonist Used to prevent migraines, abdominal migraines, or cyclic vomiting SE: sedation, weight gain

Answer 59

5-HT2 antagonist and increased synaptic NE Used to prevent migraines, abdominal migraines, or cyclic vomiting SE: QT prolongation

Answer 60

GABA-A inhibition results in increased Cl current Prevents cyclic vomiting Can cause cognitive and learning defects

Answer 61

Menetrier Disease Associated with CMV Giant gastric folds, increased mucus secretions, decreased acid secretion, PLE Can self-resolve in immunocompetent children

Answer 62

Lymphoma H pylori CMV Lupus Plasmacytoma Granulomatous gastritides

Answer 63

10-48 months Endoscopic finding: body and antrum studded with 1-2 mm polyps Foveolar hyperplasia with glandular dilation, hyperplastic

Answer 64

21-100 days post transplant Early: crypt cell apoptosis and drop out Advanced: gastric ulceration, edema, fibrosis, and perforation Extensive bile duct damage

Answer 65

Henoch-Schonlein Purpura Histolofy: leukocytoclastic vasculitis

Answer 66

Pernicious anemia Histology: atrophic fundic gland gastritis and absence of parietal cells Complication of gastric adenocarcinoma

Answer 67

Systemic Mastocytosis

Answer 68

improves water absorption In SBS, there is gastric hypersecretion because there is no negative feedback for inhibiting gastrin secretion --> PUD May also worsen nutritional status by inactivating pancreatic lipase and deconjugating bile salts

Answer 69

7-14 day course PPI+Amox+Clarithromycin PPI+Amox+Imidazole Bismuth+Amox+Imidazole Don't use clarithromycin for treatment failure Dont use tetracycline in kids < 12 years of age when culture and susceptibility testing is unavailable, empiric treatment with high-dose amoxicillin, metronidazole, and a proton pump inhibitor (PPI) is recommended

Answer 70

Non-Hodkins Lymphoma and Sarcomas

Answer 71

Familial Adenomatous Polyposis Syndrome

Answer 72

GI stromal tumor

Answer 73

No! In younger children, items > 3 cm in length may not pass pylorus

Answer 74

Microvillous inclusion disease Intractable diarrhea in the first week of birth and severe dehydration

Answer 75

Brunners glands

Answer 76

Cholecystokinin Comes from the I cells in the mucosal epithelium in the small bowel Promotes gallbladder contraction and pancreatic enzyme secretion

Answer 77

Gastrin-releasing peptide Secreted by G cells in the antrum in response to vagal stimulation

Answer 78

Apolipoprotein a-IV CNS receptors Found in the intestinal mucosa

Answer 79

Leptin From adipocytes Receptors are in the hypothalamus

Answer 80

Peptide Tyrosine-Tyrosine (PYY) Found in L cells in ileum and colon Act on Neuropeptide Y receptors in the CNS

Answer 81

Pancreatic Polypeptide (PP) Found in pancreatic endocrine cells (F cells) PP receptors are in the pancrease, GI, CNS

Answer 82

Glucagon-like peptide (GLP) Found in ileal L cells GLP-1 receptors found in the pancreas

Answer 83

Oxyntomodulin Found in oxyntic cells in the colon Binds to GLP-1 and glucaogin receptors in the pancreas

Answer 84

Ghrelin Located in D cells in the stomach and episolin cells in the pancreas There are ghrelin receptors in the hypothelamus and pituitary glands

Answer 85

intestinal duplication with heterotropic mucosa obstructed loops of bowel intussusception AVM Ulcers

Answer 86

inadequate gastric mucosa in diverticulum dilution of tracer from high bleeding rate poor blood supply from diverticulum

Answer 87

Omphalocele + midline defects Defects in diaphragm, sternum, pericardium, and heart Omphaloceles have increased maternal AFP

Answer 88

jejunum-ileum - Type IIIb - apple peel deformity - multiple sites (string of sausages) Caused from failure of recanalization of bowel lumen at weeks 8-10 gestation Think of association with polyhydramnios

Answer 89

Untwist bowel Divide Ladd's bands Widen the mesenteric base and pedicle Appendectomy (preventative)

Answer 90

Celiac disease is the result of gluten-mediated increased intestinal permeability and activation of adaptive and innate immunity DQ2/DQ8 on antigen presenting cells present bound deamaidated gluten peptides to CD4+ lymphocytes to initiate an immunologic reaction Tissue transglutaminase deamindates gluten resulting in increased binding to antigen presenting cells IL-15 increases number of local intraepithelial lymphocytes

Answer 91

Obtain IgA level and TtG IgA Endomysium IgA is just as effective but costs more IgA and IgG antibodies against gliadin are not recommended due to low accuracy Patients should be consuming gluten for greater than or equal to 4 weeks

Answer 92

Deamindated gliadin IgA and IgG Patients should be consuming gluten for greater than or equal to 4 weeks

Answer 93

tTG IgG +/- deamindated gliadin IgG Patients should be consuming gluten for greater than or equal to 4 weeks

Answer 94

HLA DQ2/DQ8 testing

Answer 95

Small bowel biopsies can take 6-12 months to normalize Recheck tTG IgA every 6 months after to ensure compliance and response

Answer 96

Folate deficiency Increased serum folate concentrations in patients with SIBO because bacteria produces more folate Can also have low Vit D, Phos, Ca, Mag because of impaired micronutrient absorption

Answer 97

Moving to a temperate zone doesnt usually help like it does for tropical enteropathy Tetracycline 250 mg QID plus folic acid 5 mg daily for 3-6 months B12 def with weekly injections Iron and folic acid repletion

Answer 98

Cytokines!

Answer 99

Vedoluzimab (Entyvio) Decreases leukocyte trafficking to sites of intestinal inflammation without inhibiting immune cell trafficking to other organs (no extraintestinal involvement) Alpha 4 Beta7 integrin helps mediate leukocyte homing to the gut and vedoluzimab inhibits this Vedolizumab has been shown to be superior to adalimumab in achieving clinical remission and endoscopic improvement in adults who have ulcerative colitis.

Answer 100

They bind and inhibit tumor necrosis factor

Answer 101

Inhibits interleukin 12 and 23 Increased risk of posterior leukoencephalopathy syndrome

Answer 102

Inhibits alpha 4 integrin

Answer 103

Inhibits Janus Kinase enzymes

Answer 104

Sclerosing cholangitis inflammation and fibrosis/strictures of the medium and large size bile ducts in the intraheptic and extrahepatic biliary tree Can result in biliary cirrhosis and end-stage liver disease

Answer 105

Increased LFTs, DBili, GGT, and Alk Phos Therapy: management of complications of chronic liver disease

Answer 106

Gold standard is cholangiography ERCP shows irregular narrowing and stricture of hepatic and common bile ducts. BEADED APPEARANCE of biliary tree

Answer 107

Fibrous obliteration of small bile ducts with concentric fibrous tissue rings "ONION SKIN" appearance

Answer 108

Congenital Hepatic Fibrosis Associated with ARPKD so can have renal dysfunction

Answer 109

Portal Hypertensive - can present with variceal bleed Cholangitis Latent

Answer 110

Fibrous enlargement of portal tracts with abnormally shaped bile ducts Portal vein branches are often hypoplastic while hepatic arterial branches can increase in number

Answer 111

Caroli's Disease: less common and disease limited to extasia or segmental dilation of the LARGE intrahepatic biliary tree. No other hepatic disease present Caroli's Syndrome: More common, AR, Bile duct dilation of SMALL OR LARGE intrahepatic bile ducts. Can have fibrosis of the liver Both present with jaundice, pruritis, and cholangitis

Answer 112

US, MRCP, ERCP, CT Imaging shows biliary ectasia and irregular cystic dilation of large proximal intrahepatic bile ducts

Answer 113

Alagille's Syndrome Not all end up with liver failure. Some can have spontaneous improvement in cholestasis by age 5 years Rapidly declining total bilirubin between 12 to 24 months (<3.8 mg/dL) is associated with better outcomes. Persistent cholestasis, fibrosis on biopsy, and xanthomata are predictors of severe liver disease.

Answer 114

Choledochoal cystsH

Answer 115

abdominal pain, jaundice, palpable RUD mass and cholestasis diagnose via US

Answer 116

I: most common, large cystic dilation of the common bile duct II: diverticulum of the common bile duct or GB III: intraduodenal choledochocele IV: multiple cysts both intra and extra hepatic

Answer 117

Surgical resection with Roux-en-Y choledochojejunostomy proximal to the most distal dilation Post-op strictures, cholangitis*, pancreatitis Risk of malignancy to adenocarcinoma if there is remnant cystic tissue

Answer 118

Benadryl SE: sedation, blurred vision, drymouth CI: asthma, encephalopathy

Answer 119

Hydroxyzine SE: drowsiness, blurry vision, xerostomia CI: caution with asthmatics

Answer 120

Ursodeoxycholic acid SE: abdominal pain, diarrhea, nausea CI: hypersensitivity

Answer 121

Cholestyramine SE: nausea, vomiting, abdominal pain CI: complete biliary obstruction, bowel obstruction Can interfere with absorption of other medications so make sure all other drugs are given 2 hours before or after

Answer 122

Rifampin SE: orange discoloration or urine, sweat, tears, increased LFTs, hemolytic anemia CI: hypersensitivity reaction

Answer 123

Naloxone or Naltrexone Not evaluated in children SE: headache, insomnia, withdrawal CI: LIVER FAILURE

Answer 124

NAFLD Alcoholic liver disease Fulminant Wilson Disease

Answer 125

Disproportionate rise indicates hemolysis, rhabdomyolysis, myocardial disease, recent vigorous physical activity Isolated increase represents macro-AST when the enzyme complexes with immunoglobulin cant be cleared

Answer 126

Liver edge > 3.5 cm in children < 2 years of age > 2cm below the costal margin in older children

Answer 127

1 week: 4.5-5 cm 12 years: - Boys 7-8 cm - Girls 6-6.5 cm

Answer 128

portal pressure > 10 mm Hg or a hepatic venous pressure gradient > 5 mm Hg

Answer 129

PVT AV fistula Splenic vein thrombosis Congenital stenosis or external compression of the PV

Answer 130

AIH A1AT Wilson's Disease Toxins Fatty Liver Infection

Answer 131

Bidd-Chiari Syndrome CHF Constrictive pericarditis IVC obstruction

Answer 132

Prehepatic portal venous obstruction PVT AV fistula Splenic vein thrombosis Congenital stenosis or external compression of the PV

Answer 133

Intrahepatic PHT (presinusoidal)

Answer 134

Intrahepatic PHT (sinusoidal) Cirrhosis

Answer 135

Posthepatic venous obstruction

Answer 136

Hepatofugal flow (flow away from the liver)

Answer 137

Hepatopulmonary syndrome Bubble echo shows intrapulmonary vascular dilation Only treatment is liver transplant

Answer 138

Portopulmonary HTN

Answer 139

Extrahepatic PVT Variceal bleeding refractory to endoscopy or medication Refractory ascites Complications of hypersplenism Portosystemic encephalopathy Do not perform in patients who will undergo liver transplant

Answer 140

Hepatic Hemangioendothelioma US shows multifocal lesions in the liver CT shows hypoattenuated lesions which can show "halo" enhancement Tx: STEROIDS!!! Vascular lesions usually regress spontaneously Has malignant potential

Answer 141

Limits fluid secretion in the pancreas resulting in more viscous, acidic fluid in the pancreatic ducts

Answer 142

WBC and RBC Counts Albumin, Total Protein, Glucose, Bilirubin LDH, Amylase, TG Bacterial culture, acid fast, cytology

Answer 143

Serum ascites-albumin gradient Difference of simultaneously measured albumin in serum and ascitic fluid

Answer 144

This effectively rules out PHT as a cause for ascites Neoplasm Nephrotic Syndrome PLE Crohns Eosinophilic Enteropathy HSP Pancreatitis

Answer 145

Sodium restriction: 1-2 Na mEq/kg/day or 1-2 g Na per day Diuretics: Aldactone and Lasix Fluid restriction if Na is less than 125-130 (USE HYPOtonic fluids) IV albumin Paracentesis

Answer 146

Competitive inhibitor of aldosterone in renal tubules and increases excretion of Na+ and Cl - 0.5-1 mg/kg/day divided TID

Answer 147

Inhibits reabsorption of Na and Cl in the kidneys Dosing is 0.5-2 mg/kg/day divided in 2-4 doses

Answer 148

By measuring the number of PMNs in ascitic fluid > 250 PMN/mm^2 Ceftriaxone or Zosyn

Answer 149

INR > 1.5 with hepatic encephalopathy INR > 2 without hepatic encephalopathy

Answer 150

Wilson's Disease Can have normal ceruloplasmin in ALF

Answer 151

Galactosemia Tx: remove lactose

Answer 152

Tyrosinemia Tx: NTBC Do yearly eye exams

Answer 153

Urea Cycle Defect OTC def is most common (only one that is X-linked) Argininosuccinate synthetase is the only one with high citrulline

Answer 154

Fatty acid oxidation defects Tx: avoid fasting, IV glucose

Answer 155

Mitochondrial disorders

Answer 156

Hemophagocytic Lymphohistiocytosis

Answer 157

Gestational Alloimmune Liver Disease Tx: IVIG and plasmapharesis IVIG in future pregnancies

Answer 158

large intranuclear inclusion bodies in the bile duct epithelium and occasionally in hepatocytes or kuppfer cells

Answer 159

necrosis with characteristic intranuclear acidophilic inclusions in hepatocytes and *multinucleated giant cells*

Answer 160

Rubella Infants are only affected if mother contracts it during 1st trimester Treat by vaccinating mother!

Answer 161

Moderate pancreatic insufficiency is fecal elastase of 100-120. Severe is elastase less than 100 Less than age 2: 2000 - 5000 units of lipase at each feed

Answer 162

Do not exceed pancrealipase dosing greater than 10k units/kg/day

Answer 163

In all infants with 2 CTFR mutations and low lipase. Give with breastmilk. All infants with fecal elastase < 200 Patients with unequivocal signs of malabsorption

Answer 164

P value indicates the probability of seeing a study’s test statistic at least as pronounced if the study’s null hypothesis were actually true.

Answer 165

Recurrent enteric infections

Answer 166

duodenitis and villous blunting hard to distinguish from celiac disease

Answer 167

Glycogen Storage Diseases Results from abnormal degradation of glycogen in the liver or muscle GSD 1-, 3-, and 4 are known to cause severe liver disease

Answer 168

Pyloric obstruction

Answer 169

Acute Liver Failure

Answer 170

Polyarteritis nodosa and gloomerulonephritis

Answer 171

Detection of HbsAg

Answer 172

active viral replication with high infectivity

Answer 173

Persistence of HBsAg > 6 months

Answer 174

Immune due to previous infection

Answer 175

Immune due to vaccination

Answer 176

Acutely infected

Answer 177

Chronically infected

Answer 178

Carrier state

Answer 179

Infants 90% risk

Answer 180

Resolved or resolving acute infection Low level chronic infection

Answer 181

ALT > 1.5x ULN over > 6 months if HBeAg positive or 12 months if HEbAg negative and HBV DNA > 20k

Answer 182

> 12 months of age, Contraindicated in cirrhotics Positive response: ALT > 2x ULN, low level HBV DNA, active inflammation on biopsy, female sex, younger age

Answer 183

Hep B infection Nucleastide analogues

Answer 184

nondetectable HBV DNA seroconversion to HBeAb

Answer 185

Hep B immunoglobulin and Hep B vaccine within 12 hours of birth

Answer 186

HCV antibody but only after 18 months of age Active infection: HCV RNA (perform after 2 months of age and before 18 months) Obtain HCV genotype to determine treatment type

Answer 187

PEG-IFN-alpha SQ weekly x 48 weeks for genotype 1 and 4 24 weeks for genotype 2 or 3 PLUS oral ribavirin for children > 3 years 48 weeks for any child with HIV too

Answer 188

Pyogenic abscess Increased risk with preexisting biliary disease CT to diagnose

Answer 189

E coli Treat with 3rd gen cephalosporin and aminoglycoside (gent, tobramycin, amikacin) for 10-14 days

Answer 190

Imaging: large confluent calcifications in the liver and CBD Histology: small granulomas in portal areas

Answer 191

Usually associated with HIV Granulomas containing foamy macrophages Treat with ethambutol and clarithromycin with or without rifabutin

Answer 192

Brucellosis

Answer 193

Amebic liver abscesses (most often in right lobe) Dx via indirect hemagglutination assays or completement. Also stools are positive for cysts and trophozoites Gastriculcers look like flasks Drain and give Flagyl - drainage is reddish brown sterile fluid - "anchovy paste"

Answer 194

Echinococcus Diagnose via serology Treat with mebendazole or albendazole DONT DRAIN because it can cause cyst rupture or anaphylaxis

Answer 195

AIH Type 1 Can be weaned off immunosuppression. After 2 years of remission with evidence of both normal liver enzymes, liver function, and histology, patients with AIH type 1 can potentially be weaned off therapy altogether. Presents more often as advanced cirrhosis

Answer 196

AIH Type 2 DR7 has worse prognosis Requires lifelong immunosuppression more commonly seen in younger children regardless of gender and are more likely to present with acute liver failure

Answer 197

hepatitis with lymphocyte and plasma cell infiltration of the portal tracts with spilling into the liver lobules Bridging inflammation/necrosis/fibrosis

Answer 198

hepatitis with lymphocyte and plasma cell infiltration of the portal tracts with spilling into the liver lobules Bridging inflammation/necrosis/fibrosis ductular proliferation and onion skin appearance

Answer 199

Prednisone daily 2 mg/kg Budesonide to help offset symptoms of AZA Ursodiol for overlap SC AZA

Answer 200

Chect TPMT levels first If normal, start 1-2 mg/kg Use metabolites 6 thioguanine and 6 methyl mercaptopurine to adjust dosing and monitor adherence If AZA doesnt work then consider Sirolimus or Mycophenolate

Answer 201

central necrosis think infectious etiology

Answer 202

no central necrosis consider noninfectious cause except for Brucella, Hep C Sarcoidosis is most common cause in US (noncaseating epithelioid granulomas) - has high vitamin D level

Answer 203

fibrin ring surrounding the epithelioid cells can be seen in Q fever (coxiella) and Hep C

Answer 204

a central lipid vacuole associated with mineral oil ingestion

Answer 205

Primary biliary cirrhosis Tx: Ursodiol

Answer 206

Budd-Chiari Syndrome Supportive care

Answer 207

Hepatic veno-occlusive disease Typically seen within 1 month of HSCT induction Rule out GVHD High risk of mortality!!!! Start anticoagulant, do not fluid overload, consider steroids and liver transplant

Answer 208

sinusoidal dilation and congestion, lack of terminal hepatic veins, collagen deposition, and fibrosis

Answer 209

Infantile Hepatic Hemangioma Focal lesion: rarely with skin hemagiomas, does not stain positive for GLUT-1, stop growing after birth and resolve by 12-18 months Multifocal usually have skin lesions and grow before they involute at 1-5 years of age Treat symptomatic lesions with steroids, propranolol, or vincristine

Answer 210

Mesenchymal hamartoma

Answer 211

Hepatic adenoma Carries risk of turning into HCC so check AFP

Answer 212

Hepatoblastoma Rarely presents after age 5 Resect pretext 1/2 chemo and then resect pretext 3

Answer 213

FAP Beckwith-Wiedemann syndrome Tyrosinemia and Glycogen Storage Diseases Smoking

Answer 214

For patients age 12-18 years Bili INR Cr

Answer 215

For patients < 12 years of age Bili INR Albumin Growth failure Age < 1 year

Answer 216

Lymphocytic portal inflammation Cholangitis or bile duct damange Endothelialitis

Answer 217

Biliary epithelial changes affecting most bile ducts Ductopenia affecting > 50% of bile tracts Foam cell obliterative therapy

Answer 218

A1AT deficiency Cause by accumulation of A1AT protein in the hepatocyte due to protein misfolding and lack of autophagy leading to cell injury

Answer 219

MM is normal, normal levels of A1AT ZZ and SZ are associated with severe deficiency and liver disease - can lead to vasculitis, glomerulonephritis, panniculitis, and chronic pancreatitis

Answer 220

PAS positive Globules with clear halo surrounding them in zone 1

Answer 221

Total serum BAs are low or normal GGT is normal or minimally elevated (this is usually high in cholestatic infants) Absence of pruritus

Answer 222

GSD XI Defect in GLUT2 transporter

Answer 223

GSD IX (alpha) Its the only one that is X-linked recessive Defect in liver phosphorylase kinase

Answer 224

in hepatocytes from cholesterol

Answer 225

cholic acid and chenodeoxycholic acid These are conjugated to glycine and taurine

Answer 226

Primary bile acids enter the intestine and colon and are deconjugated by intestinal bacteria to become deoxycholic and lithocholic acid These are highly insoluble and most are excreted in the feces while some are carried back to the liver

Answer 227

1. eliminate cholesterool from the body 2. promote the secretion of bile 3. they are part of the biliary route that excretes toxic substances 4. the detergent action of bile acids facilitates the absorption of fats and fat soluble vitamins 5. preserves body mass and helps with glucose metabolism

Answer 228

Total serum BAs are low or normal GGT is normal or minimally elevated (this is usually high in cholestatic infants) Absence of pruritus

Answer 229

FABMS Fast Atom Bombardment Ionization Mass Spectrometry in the urine

Answer 230

Beta-hydroxy C-27 steroid oxidoreductase/hydrogenase deficiency leads to progressive jaundice increased LFTs, NORMAL GGT, increased direct bili, low to normal serum BAs Hepatomegaly with malabsorption, fat soluble vitamin def and rickets

Answer 231

decreased primary bile acids and increased di- and trihydroxy cholenoic acids treat with cholic acid (Cholbam)

Answer 232

Alpha methylacyl-CoA racemase deficiency

Answer 233

Malabsorption and fat soluble vitamin deficiency Conjugated hyperbilirubinemia, cholestasis, and liver failure Diagnose by FABMS (complete abscence of glycine and taurine Treat with primary conjugated bile acids and fat soluble vitamins

Answer 234

glucose, galactose and fructose

Answer 235

Hypoglycemia, acidosis, growth failure, and hepatic dysfunction

Answer 236

Galactosemia Deficiency in galactose-1-phosphate uridyltransferase (GALT)

Answer 237

Newborn screen Urine reducing substances are positive without glucosuria Decreased GALT activity in RBCs (but transfusions can make this confusing)

Answer 238

Eliminate galactose from the diet and switch to soy or hydrolyzed formulas Older kids should avoid milk containing products, black beans, and garbanzo beans

Answer 239

Galactokinase deficiency Treat with a lactose free diet

Answer 240

Hereditary fructose intolerance

Answer 241

Fructose 1,6-bisphosphatase deficiency Diagnose with liver biopsy or genetic testing Treatment is to avoid long periods of fasting and limit fructose and sucrose

Answer 242

1a von Gierke Disease Defect in glucose-6-phosphatase which is the last step in gluconeogenesis Results in impaired glucose availability during times of fasting Patients have "doll-like facies"

Answer 243

1b von Gierke Disease Defect in Glucose 6-phosphatase translocase

Answer 244

1c von Gierke Disease Defect in Phosphatase Translocase

Answer 245

II Pompe Disease Defect in alpha 1-4-glucosidase (acid maltase)

Answer 246

Cori, Forbes Disease Defect in debranching enzymes

Answer 247

Andersen Disease Defect in Branching enzyme alpha-1,4-glucan 6 glucotransferase

Answer 248

Hers Disease Defect in Liver phosphorylase E

Answer 249

GSD IX (alpha) Its the only one that is X-linked recessive Defect in liver phosphorylase kinase

Answer 250

Abdominal pain at least 4 days per month associated with 1 or more of the following: change in frequency of stool change in form of stool pain does not resolve with resolution of constipation symptoms cannot be explained by other medical conditions criteria must be fulfilled for 2 months before a diagnosis can be made Treat with CBT and family therapy

Answer 251

At least a 1 month history of the following in a kid greater than 4 years of age: Defecation into places that are socially not accepted No evidence of fecal retention Incontinence cannot be explained by another medical condition

Answer 252

significant eosinophilia and even eosinophilic abscesses treat with supportive care

Answer 253

Chemical - converts heme iron into guiac acid which appears blue on test Immunochemical does not detect upper GI bleeds because the globulin it binds to can be digested in the GI tract

Answer 254

Cystic Fibrosis Schwachmann Diamond Syndrome

Answer 255

Less than 60 mmol/L

Answer 256

Schwachmann Diamond Syndrome may also include learning disabilities, hepatic or cardiac anomalies, and an increased predisposition to acute myeloid leukemia Basically, think of FTT with neutropenia Different from CF because the ductal architecture is still intact

Answer 257

Direct tests include the secretin or cholecystokinin stimulation test Pancreatic secretions from the duodenum are collected during an upper endoscopy after intravenous administration of one of these agents, followed by direct measurement of enzyme activity Secretin-enhanced magnetic resonance cholangiopancreatography, which quantifies pancreatic fluid secretion after intravenous administration of secretin

Answer 258

Fecal fat malabsorption (elastase) in a 72-hour stool collection, which measures the amount of fat content in the stool and the amount of fat ingested during the collection time Don't have to discontinue PERT therapy

Answer 259

when the study fails to reject the null hypothesis when there is indeed a difference between the 2 study groups

Answer 260

incorrectly rejects the null hypothesis

Answer 261

The null hypothesis (H0) of a study typically states that there is no difference between the 2 study groups, whereas the researchers’ hypothesis hopes to find a difference between the 2 study groups

Answer 262

"Absent peristalsis, incomplete relaxation of the LES" Low amplitude and disorganized peristaltic activity in the esophagus after swallowing, which is insufficient to propel the food bolus and overcome the (usually) high pressure in the LES, which often fails to relax accompanied by a loss of peristalsis in the distal two-thirds of the esophagus After any procedure for achalasia, esophageal motor function generally does not normalize completely and many patients experience recurrent or persistent symptoms for which they need a POEM - peroral endoscopic myotomy

Answer 263

"Panesophageal pressurization, incomplete relaxation of the LES" shows simultaneous high pressure throughout the esophagus and compression type II achalasia has a more favorable rate of response to most therapies, compared with types I and III

Answer 264

"Abnormal/spastic contractions, incomplete relaxation of the LES" Type III has spastic esophageal contractions resulting in ineffective propagation of the food bolus

Answer 265

The Heller procedure (surgical myotomy) involves cutting the LES muscle fibers Better than dilation and botulinum injection that have high rate of symptom recurrence

Answer 266

Most commercial MCT oil products contain a combination of caprylic (8:0) and capric (10:0) acids, predominantly derived from coconut and palm oil

Answer 267

Essential fatty acid deficiency because long-chain fatty acids are crucial for other functions besides energy needs, including cellular membrane structure and inflammatory signaling molecules (ie, prostaglandins and leukotrienes)

Answer 268

Portal HTN Hepatobiliary Disorders Heart failure

Answer 269

SAAG = (serum albumin) − (albumin level of ascitic fluid) Ascitic fluid normally contains less than 500 leukocytes/µL, with less than 250 polymorphonuclear neutrophils (PMN)/µL. Ascitic PMN counts greater than 250/µL is a significant predictor of spontaneous bacterial peritonitis Ascites associated with a low SAAG and a high leukocyte count but low PMN count would be most consistent with either malignancy (such as lymphoma) or tuberculosis

Answer 270

Yersinia enterocolitica gram negative bacillus tx: ciprofloxacin

Answer 271

Giardia Tx: supportive care or flagyl

Answer 272

While the hallmark feature is hypophosphatemia, other metabolic abnormalities are common including disorders of sodium and fluid balance, changes in glucose, hypokalemia, thiamine deficiency

Answer 273

Headaches, weakness, peripheral neuropathy (known as dry beriberi), confusion, metabolic acidosis, and ataxia When untreated, congestive heart failure, encephalopathy, and metabolic acidosis may occur (wet beriberi) Consider giving thiamine before glucose in malnourished hospitalized patients to prevent wernicke's encephalopathy

Answer 274

When stimulated by food, gastrin is secreted from antral G cells. Gastrin binds to receptors on the enterochromaffin-like cells in the gastric body and fundus, which then release histamine Histamine in turn binds to histamine 2 receptors on parietal cells and activates the proton pump (H+/K+-ATPase) which promotes hydrochloric acid secretion

Answer 275

because the somatostatin inhibitory feedback loop is inhibited in an alkaline environment Can lead to fundic gland polyps

Answer 276

It is a gastrin producing tumor Promote the secretion of huge amounts of gastric acid even in the setting of low gastric pH and may cause reflux symptoms and peptic ulcer disease, which are poorly responsive to PPI therapy Diarrhea Gastrinomas may arise from the pancreas (80%) or duodenum (20%). The serum gastrin level produced by a gastrinoma is usually substantially higher than that occurring during chronic PPI use,

Answer 277

Gastrointestinal cancer and fail to achieve their adult height based on midparental height estimates

Answer 278

<4 y of age: 1000–2500 lipase units/kg/meal *1/2 for snack >4 y of age: 500–2500 lipase units/kg/meal *1/2 for snack

Answer 279

Lubiprostone not yet approved by the Food and Drug Administration for children <18 years of age

Answer 280

Anticoagulation with low-molecular-weight heparin, low-dose unfractionated heparin or fondaparinux is recommended for inflammatory bowel disease hospitalizations in all patients 18 years and older, and in pediatric inflammatory bowel disease hospitalizations if there is a personal or family history of thromboembolism.

Answer 281

abnormal peristalsis and incomplete relaxation of the LES

Answer 282

Achalasia is caused by an imbalance of excitatory and inhibitory neurons in the esophagus loss of inhibitory fibers in the myenteric plexus causes abnormalities in peristalsis and failure of the LES to relax

Answer 283

Bariatric surgery is indicated in adolescents with extreme obesity: body mass index greater than 40 or body mass index greater than 35 plus comorbidities Tanner 4/5 Age > 10 years Compliance with lifestyle modification Stable psychosocial situation Experienced multidisciplinary team

Answer 284

Nonadherence to diet/activity Pregnancy (or anticipated within 1-2 years) Unresolved substance abuse Untreated psychiatric disorder

Answer 285

HBsAg‐positive patients are at risk for elevation in hepatitis C virus DNA and alanine aminotransferase during hepatitis C treatment with direct oral-acting therapy Monitoring of hepatitis B virus DNA levels every 4 to 8 weeks during treatment and for 3 months after treatment is indicated

Answer 286

Thiopurine metabolites can be associated with both bone marrow and hepatic toxicities Azathioprine and 6-mercaptopurine undergo a complex metabolic pathway with potential for drug-drug interactions

Answer 287

Histologic examination of the small intestine shows villous blunting but with notably absent inflammation, which distinguishes MVID from autoimmune enteropathy (AE) Apoptosis from increased cell turnover may be present Immunohistochemical staining to highlight the location of epithelial membrane components can be performed with CD-10, an antigen expressed in the brush border, or villin, a component of the microvillus core The staining pattern shows disrupted surface epithelium as well as cytoplasmic inclusions that contain epithelial components

Answer 288

Microvillus inclusion disease

Answer 289

Tufting enteropathy (TE) Mutation in EpCam expression

Answer 290

Autoimmune enteropathy

Answer 291

Total parenteral nutrition–associated cholestasis is typically defined as a conjugated bilirubin level above 2.0 mg/dL (34.2 µmol/L), or more than 20% of the total bilirubin in patients receiving long-term parenteral nutrition Can be caused by limited resorption of bile acids in the distal ileum for patients that are short gut

Answer 292

1. Soybean oil has a high ratio of linoleic acid (omega-6) to linolenic acid (omega-3). Both fatty acids are essential to avoid essential fatty acid deficiency, a high ratio of omega-6 to omega-3 fatty acids is linked to inflammation Omega-6 fatty acids are substrates for the formation of several proinflammatory prostaglandins, causing a proinflammatory state 2. Plant-based lipid solutions contain high levels of phytosterols, the plant analogue to animal cholesterol (absorption is limited in the intestine but higher when give IV) 3. Lack Vitamin E which protects against oxidative damage

Answer 293

Soybean oil, MCT, olive, and fish oil Decreased omega-6 to omega-3 ratios Increased Vitamin E content Less or no phytosterols

Answer 294

The trough concentration for luminal disease during maintenance therapy should be greater than 5 μg/mL for infliximab and greater than 7.5 μg/mL for adalimumab For complex perianal disease, then greater than 10

Answer 295

Right upper quadrant ultrasonography and have serum α-fetoprotein (AFP) levels checked every 6 months from infancy to 5 to 10 years of age given increased risk for hepatoblastoma An annual colonoscopy starting at 10 to 12 years of age A thyroid examination and thyroid ultrasound annually starting in the late teenage years

Answer 296

absence of ganglion cells in the rectal mucosa and submucosa presence of hypertrophic nerve fibers increased acetylcholinesterase activity or staining in the muscularis mucosae decreased or absent calretinin-immunoreactive fibers in the lamina propria***

Answer 297

Wilson's disease that results in defective copper trafficking out of hepatocytes

Answer 298

A 24-hour urinary copper >40 µg/24 h is considered abnormal, and >100 µg/24 h is highly suspicious for WD Total serum copper is also usually decreased Serum ceruloplasmin is typically <20 mg/dL in WD due to impaired synthesis

Answer 299

Hyperosmolar enemas are hypertonic solutions that contain a large amount of phosphate By retaining the majority of the contents of 3 sodium phosphate enemas, the child described in this vignette developed hyperphosphatemia and resultant hypocalcemia, which resulted in QT prolongation Phosphate enema overuse can also cause volume depletion, acute renal failure, hypernatremia, and high anion-gap metabolic acidosis.

Answer 300

Microvesicular steatosis due to disruption of mitochondrial β-oxidation of lipids

Answer 301

Distal intestinal obstruction syndrome can be successfully treated with an oral (for more proximal or partial obstruction) or rectal hyperosmolar solution

Answer 302

Non-cirrhotic portal hypertension caused by obliterative venopathy decreased luminal diameter of the portal vein from smooth muscle hyperplasia Patients may develop bridging fibrosis in the absence of cirrhosis which results in the presence of nodular regenerative hyperplasia The pathophysiology of vascular damage is thought to be related to early severe or recurrent pulmonary infections or non-pulmonary infections resulting in the formation of small clots within small hepatic veins and eventually leading to significant vascular damage

Answer 303

villus atrophy with increased lamina propria plasma cells without increase in intraepithelial lymphocytes

Answer 304

moderate-to-severe villous blunting without increase in lamina propria plasma cells or intraepithelial lymphocytes Electron microscopy pathognomonic: markedly ↓ surface microvilli that are shortened and disorganized and intracytoplasmic vacuoles, detected with periodic acid-Schiff stain

Answer 305

variable villous abnormalities and distinctive surface epithelial changes consisting of epithelial crowding, disorganization, and focal tufting

Answer 306

crypt distortion with villous surface, goblet cell depletion, and prominent crypt abscesses. Diffuse, predominantly plasma cell infiltrate of lamina propria.

Answer 307

patients with established enterococcal GI tract infections in which antibiotic prophylaxis may be considered for those with highest risk cardiac conditions with adverse outcomes from IE, including prosthetic valves, previous IE, cardiac transplant and subsequent valvulopathy, unrepaired cyanotic congenital heart disease (CHD), and repaired CHD with prosthetic material

Answer 308

necrosis and regeneration Type III collagen

Answer 309

Bile duct injury (basement membranes), necrosis (lipofuscin-filled macrophages), and α1antitrypsin globules

Answer 310

Little or no bile duct alteration Liver parenchyma abnormalities include giant cell transformation, ballooning/degeneration, neutrophil infiltration, intralobular inflammation, and Kupffer cell hyperplasia

Answer 311

Dense mononuclear and plasma cell infiltration of the portal areas, which expands into the liver lobule destruction of the hepatocytes at the periphery of the lobule, with erosion to the limiting plate (interface hepatitis) and hepatic regeneration with rosette formation

Answer 312

Prominence of neutrophils and eosinophils among inflammatory cells Zonal necrosis is characteristic of compounds with predictable, dose-dependent, intrinsic toxicity, such as halothane (zone 3), carbon tetrachloride (zone 3), and acetaminophen (zone 3) Focal concentric edema and fibrosis (onion skinning) around interlobular bile ducts

Answer 313

Microvesicular steatosis in the absence of hepatic inflammation or necrosis and characteristic swelling and pleomorphism of mitochondria under EM

Answer 314

PAS-positive, diastase-resistant globules in the endoplasmic reticulum of hepatocytes Variable degree of hepatocellular necrosis, inflammatory cell infiltration, periportal fibrosis, or cirrhosis may be present.

Answer 315

portal tract inflammation portal venule endothelialitis inflammatory medicated bile duct injury

Answer 316

progressive duct loss and a lipid-rich vasculopathy May present with central necrosis (zone 3) and central lymphocytic infiltration as central venulitis or lymphocytic infiltration in bile ducts or portal vein as portal venulitis Vascular involvement means more severe rejection

Answer 317

chronic cholestasis

Answer 318

HBV Chronic cholestasis Vessels and Fibrosis

Answer 319

Measured distance for catheter placement in the esophagus above the lower esophageal sphinter 0.252 x body length (cm) + 5) = length of infant esophagus

Answer 320

Transient hyperphosphatemia of infancy/childhood - can be triggered by a viral illness Pregnancy Chronic renal failure Untreated celiac High bone turnover Malignant tumors

Answer 321

Wilson's Disease Zinc Def OCP use Low Phos

Answer 322

Carb malabsorption Suspicious 0.25-0.5 g/dL Abnormal >0.5 g/dL

Answer 323

<5.5 is suggestive of carb malabsorption or infection Normal is 7.0-7.5

Answer 324

osmotic gap > 100 caused by malabsorption improves with fasting

Answer 325

osmotic gap < 50 Significant increase in stool volume caused by abnormal fluid/electrolyte transportation due to decreased absorption or increased secretion Does not improve with fasting

Answer 326

abnormal RAIR (rectoanal inhibitory reflex) The RAIR study looks at internal anal sphincter relaxation in response to rectal distention. When ganglion cells are present, there is a relaxation of the internal sphincter with balloon insufflation and the depth of the relaxation increases with increasing balloon volumes.

Answer 327

The constellation of fever, rash, lymphadenopathy, facial edema, eosinophilia, and hepatitis after the commencement of a drug is consistent with the development of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome most likely a drug-related immune reaction that triggers reactivation of host viruses, typically human herpesvirus (HHV) 6 or 7, Epstein-Barr virus (EBV), and cytomegalovirus (CMV) Viral reactivation, in turn, stimulates a T-cell response with release of cytokines such as interleukin 5 and tumor necrosis factor α, leading to eosinophilia and inflammation with resulting illness and organ injury. anticonvulsants are most common culprit Don't forget the 2-6 week latency period

Answer 328

Toll-like 4 receptors (TLR4) Breastmilk inhibits this signaling

Answer 329

HBsAg positive, HBV DNA positive by hybridization assay, HBeAg negative, with only slightly elevated serum aminotransferases During the immune response or “immune clearance” phase, these patients developed antibodies against the virus (anti-HBe positive) as well as a clinical picture of hepatitis (elevated transaminases) Their immune response is effective but not complete, rendering them carriers with evidence of the virus still present (HBsAg positive, HBV DNA hybridization positive) but also evidence of a successful response (anti-HBe positive causing HBeAg negativity)

Answer 330

Carriers may also have slightly elevated aminotransferases. Had their immune response been complete, the patients would be cured of the disease and be anti- HBs positive, HBsAg negative, anti-HBe positive, HBeAg negative, and HBV DNA negative.

Answer 331

interferon, ribivarin, and a protease inhibitor

Answer 332

Interferon and Ribavarin Anemia usually appears in the first 12 weeks, caused by ribivarin-induced hemolysis (ribivarin is concentrated in erythrocytes leading to oxidative damage) and interferon-related bone marrow suppression to blunt a compensatory response Neutropenia and thrombocytopenia occur soon after treatment initiation and are due to interferon-related bone marrow suppression Ribivarin dose reduction would treat the anemia, whereas Interferon dose reduction would treat the thrombocytopenia. Erythropoietin is another medication that has been shown to improve the anemia, possibly without needing to reduce the ribivarin dose.

Answer 333

Interferon and the antiviral lamivudine are used to treat HBV infection in children Interferon is dosed for 16 weeks. Can cause a rise in LFTs by killing infected hepatocytes so a rise in AST/ALT could mean the medication is working Lamivudine is taken indefinitely but can induce viral resistance

Answer 334

the prevalence is approximately 100 cases per 100,000 general population

Answer 335

transmural inflammation can affect the underlying ureters, causing occlusion usually on the right side and hydronephrosis Inflammation can also create fistulas between inflamed bowel and the bladder, promoting cystitis and urinary tract infections associated with calcium oxalate and uric acid renal stones

Answer 336

Kwashiorkor muscle atrophy and increased body fat secondary to poor protein intake in the setting of adequate energy intake Normal weight to height for age, anasarca, flaking of the skin, fatty liver Can have "flag sign" when streaks of normal hair color reappear with normal protein intake

Answer 337

Marasmus Muscle wasting and depleted fat stores secondary to inadequate intake of all nutrients Doesn't always have low albumin levels

Answer 338

Vitamin A deficiency Tox: alopecia, ataxia, pseudotumor and HSM and turning orange like carrots

Answer 339

Vitamin E Tox: impaired neutrophil function, coagulopathy, low platelets, cerebral hemorrhage

Answer 340

From thiamine deficiency dilated cardiomyopathy, lethargy, lactic acidosis, nystagmus, wernicke enceophalopathy

Answer 341

From thiamine deficiency karsakoff's psychosis, ophthalmoplegia, and nystagmus

Answer 342

Def: stomatitis, glossitis, dermatitis, slow growth

Answer 343

Niacin Occurs where corn is a staple food

Answer 344

Pyridoxine (B6)

Answer 345

Folic acid

Answer 346

Deficiency of alpha-linoleic (omega-6) and alpha-linolenic (omega-3) acid which cannot be synthesized in humans Increased T/T ratio (mild > 0.05, mod > 0.2, severe > 0.4) Can result in hair loss, blood disorders, poor growth, poor wound healing, xerosis, increased risk of infection

Answer 347

Hyporeflexia

Answer 348

HFE gene HFE is a transmembrane protein expressed in intestinal crypt cells and liver cells In crypts, it binds transferrin receptors and promotes uptake of iron from circulation In liver cells, it increases expression of liver hepcidin

Answer 349

Mutation in the copper=transporting ATPase gene ATP7B This gene coordinates transport of copper from the cytoplasm through the trans-golgi network to vesicles, eventually leading to bile canaliculi Alsp promotes binding of copper with apoceruloplasmin to form ceruloplasmin which gets secreted into the blood stream Without this gene, copper doesnt get secreted into the bile or the bloodstream which then leads to damage in the liver

Answer 350

1-2 rounds of replication is sufficient to double liver mass

Answer 351

They inhibit the P450 system, thereby increasing tacro levels

Answer 352

They induce the P450 system, thereby decreasing tacro levels

Answer 353

Left lateral: segment 2, 3 (25% of total volume), includes left heptic vein, left branch of portal vein, and left branch of hepatic artery Right segment: 1, 4, 8 (includes the vena cava, right branch of the hepatic artery, and portal vein)

Answer 354

At 4-5 weeks gestation from the posterior foregut

Answer 355

superior pancreatic head, body, and tail

Answer 356

inferior pancreatic head and uncinate process, proximal pancreatic duct

Answer 357

Failure of proper rotation of the central bud

Answer 358

Failure of fusing of the pancreatic ducts which occurs at 7 weeks gestation

Answer 359

Reside in the islet of langerhans A cells: glucagon B cells: insulin D cells: somatostatin F cells: pancreatic polypeptide

Answer 360

Acinar cells (82% of the pancreatic volume) and ductal cells

Answer 361

Acinar cells synthesize, store, and release digestive enzymes which are activated in the intestine by trypsin and enterokinase Ductal cells secrete 1-2 L of neutral juice into the intestines

Answer 362

72 hour fecal fat collection

Answer 363

Pearson bone marrow pancreas syndrome

Answer 364

Johnson-Blizzard Syndrome UBR1 gene mutation near complete absence of acinar cells that are replaced with fat and connective tissues Differentiate from Schwachmann Diamond because this does not have skeletal and bone marrow abnormalities

Answer 365

Congenital Rubella Can cause loss of exocrine pancreatic cells

Answer 366

The dorsal pancreas (head, body and tail) drains through the minor papilla Can present with intermittent abdominal pain and mild to severe recurrent episodes of pancreatitis due to high volume of pancreatic secretions flowing through the smaller papilla causing activated pancreatic enzymes to inflame the papilla leading to stenosis and pancreatitis

Answer 367

small ductal branch connects the ventral and dorsal ducts

Answer 368

The head of the pancreas partially or completely encircles the second part of the duodenum Associated with Tris21, Meckel's diverticulum, polyhydramnios, TEF, esophageal or duodenal atresia, congenital heart disease

Answer 369

Infants/children: neonatal small bowel obstruction, bilious emesis, feeding intolerance Adults: postprandial fullness, acute/chronic pancreatitis Dx: KUB can show double bubble sign in infants, CT/MRI/Upper GI shows duodenal narrowing

Answer 370

Duodenal bypass: - gastro-jejunum or duodeno-jejunum anastamosis

Answer 371

Peripancreatic fluid collection is within 4 weeks of onset of pancreatitis Pseudocyst is > 4 weeks with a thin surrounding wall and is associated with trauma (can be managed conservatively unless causing obstruction or prolonged symptoms)

Answer 372

PRSS1 gene mutation High risk for Type IIIc diabetes and pancreatic adenocarcinoma

Answer 373

high blood spot values of immunoreactive trypsinogen

Answer 374

n patients with B12 deficiency, the Schilling test is used to determine which step in the absorption process is impaired Step 1 involves feeding radiolabeled B12 and measuring the amount excreted in the urine, as an indicator of how much is absorbed. Unlabeled B12 is injected concurrently that saturates tissue B12 receptors, ensuring that labeled B12 passes to the urine Step 2-4 then repeat the first step with various adjuncts: step 2 adds intrinsic factor (if test becomes normal, then assume IF deficiency or pernicious anemia), step 3 adds antibiotic (if test becomes normal, then assume small bowel overgrowth), and step 4 adds pancreatic enzymes (if test becomes normal, then assume pancreatic insufficiency).

Answer 375

Folate is absorbed by brush border enzymes Anticonvulsant therapy Celiac Sprue - impairs brush border enzyme activity Sulfasalazine therapy - interferes with absorption Methotrexate - prevents reduction of folate that enters cells into its active form by inhibiting DHFR Pancreatic enzymes aren't involved in folate absorption Sulfasalazine therapy Methotrexate

Answer 376

Bacterial overgrowth as they create proteases that destroy saccharidases

Answer 377

Cryoglobulinemia (when Hep C complexes form in the blood) Porphyria cutanea tarda (UROD gene is impaired due to liver dysfunction and porphyrins collect in the skin) Membranoproliferative glomerulonephritis (vasculitis induced by infection) Diabetes - 4 x higher risk with Hep C

Answer 378

Zollinger-Ellison syndrome Results in increased gastric secretions and diarrhea secondary to increased osmotic load, mucosal damage, and pancreatic lipase inactivation Most changes are in the small intestine

Answer 379

Neuropathy of the vagal nerve Poor vagal input reduces acid secretion and leads to less frequent antral contractions and increased pyloric tone Hyerglycemic episodes can worsen gastroparesis

Answer 380

Antral hyperplasia and gastric outlet obstruction secondary to mucosal enlargement Can diagnose via endoscopy

Answer 381

Urease, which hydrolyzes urea into CO2 and ammonia The ammonia buffers the stomach

Answer 382

Pediatric formulas have less protein per volume because they rely on more fat content for nutrition

Answer 383

Secondary acquired lactose intolerance can occur after a viral infection because the intestinal brush border and its disaccharidases are destroyed As a result, lactose will not be absorbed in the small intestine, and will pass to the colon where gut bacteria will metabolize it into gas and osmotically active substances Lactase is the last disaccharidase to return to normal function after injury so lactose intolerance can last for months after initial insult

Answer 384

Methionine Helps make albumin Lack of supplementation can lead to edema

Answer 385

EES, Nitrofurantoin, Augmentin, Chlorpromazine

Answer 386

Viral infection with HSV and Hep E most concerning for the developing fetus Intrahepatic cholestasis of pregnancy has more itching than jaundice One algorithm is as follows: 1) rule out viral hepatitis; then 2) if ALT>1000, consider medication toxicity (Tylenol); 3) if ALT<1000 and with renal failure or DIC, consider acute fatty liver of pregnancy; 4) if ALT<1000 with RUQ pain, consider stones; and 5) otherwise if ALT<1000 consider hyperemesis gravidarum or other drugs.

Answer 387

Bartonella (Rochalimaea) Henslae in the setting of HIV with CD4<100 Peliosis refers to blood filled cavities in the liver or spleen In patients without HIV, peliosis can be seen with anabolic steroid use, leukemia/lymphoma

Answer 388

Tetracycline, ASA (Reye's Syndrome), AZT, Alcohol, and Valproic Acid

Answer 389

Most commonly caused by the HFE (high Fe) gene. The gene controls liver hepcidin expression. Hepcidin is a hormone which negatively regulates ferroportin (which carries iron to the liver). With mutant HFE, then, hepcidin levels are low. As a result, ferroportin activity is increased, and more iron stored in the enterocyte is allowed to enter the systemic circulation, even when excess iron is already present. The iron becomes deposited in various end organs, where it causes a series of systemic complications.

Answer 390

Iron anemia Microcytic anemia Copper is needed for enzymes involved in iron absorption

Answer 391

Carnitine is needed to shuttle long chain fatty acids into the mitochondria, and without it myopathy (including cardiomyopathy) develops

Answer 392

A standardized measure of variation used to compare dispersion for variables with different units of measurement.

Answer 393

The Pearson’s correlation coefficient r measures how well two continuous variables vary with one another -1 reflects perfect negative correlation, +1 perfect positive correlation, and 0 no correlation. The square of the correlation (coefficient of determination) measures the amount of variance in one group that can be associated with the amount of variance in the other group

Answer 394

A linear regression line models the relationship between two variables using a line

Answer 395

Sensitivity is the probability of a test being positive if the disease is truly present

Answer 396

specificity is the probability of the test being negative if the disease is truly absent Sensitivity and specificity are not dependent on prevalence

Answer 397

Interstitial Cells of Cajal, the pacemaker cells throughout the gut stimulating slow waves of peristalsis, are located in the IAS and may be involved in IAS relaxation When the rectum is distended, the IAS relaxes to allow stools to descend and the EAS contracts to prevent defecation The IAS relaxation is accomplished by non-adrenergic, non- cholinergic (NANC) nerves that release nitric oxide (NO), vasoactive intestinal peptide (VIP), and perhaps carbon monoxide.

Answer 398

Hirschsprung’s disease is caused by lack of ganglion cells in the mucosal (Meissner’s) and myenteric (Auerbach’s) plexuses of the distal colon

Answer 399

Absent IAS relaxation when the rectum is distended The relaxation normally is mediated by nitric oxide, suggesting that nitric oxide-generating neurons are missing or defective in Hirschprung’s disease

Answer 400

Encephalopathy, as the procedure allows blood from the gut to bypass the liver filter and enter the systemic circulation directly The second most common is shunt occlusion

Answer 401

Kaposi's Sarcoma Vascular tumor caused by HHV-8 and appears as hemorrhagic nodules on colonoscopy

Answer 402

Encephalitozoon intestinalis Enterocytozoon bieneusi Tx: albendazole

Answer 403

Caused by a defect in lysosomal acid lipase As a result, lysozymes cannot hydrolyze triglycerides and cholesterol so they accumulate inside cells leading to bowel wall thickening, diarrhea, malnutrition, and hepatomegaly Liver appears yellow/orange and greasy with extensive fibrosis ADRENAL CALCIFICATIONS

Answer 404

Hirschsprung-associated enterocolitis (HAEC) Imaging shows air-filled loops of bowel with no air in the rectosigmoid colon (“cut-off sign”) The pathogenesis is thought to be related to intestinal stasis and bowel overgrowth proximal to the agangiolic segment or proximal to an anastomotic stricture. Bacteria invade the intestinal wall, leading to disease

Answer 405

Abetalipoproteinemia - triglyceride transport protein doesn't work By 2-6 years, they show severe Vitamin E def leading to retinopathy and spinocellular degeneration Treat with MCT and Vitamin E

Answer 406

K and HC03- Zn, Mag, Na B12 and Fat Soluble Vitamins

Answer 407

Familial Adenomatous Polyposis (FAP)

Answer 408

Adenomatous (tubular, tubulovillous, and villous) 100% lifetime risk of colon cancer 15-20% lifetime risk of desmoid tumors

Answer 409

Annual colonoscopy starting at age 10 years EGD every 3-4 years or annually if polyps are detected Annual AFP and liver US from infancy to 7 years of age

Answer 410

< 100 colonic polyps Fundic gland polyps and duodenal polyps are more prominent Late onset of colon cancer Endoscopic exams begin later at 18-20 years of age in patients with family history of atypical polyposis syndrome

Answer 411

variant of FAP with osteomas and soft tissue tumors (desmoid and epidermoid cysts)

Answer 412

Variant of FAP with CNS tumors

Answer 413

Juvenile Polyposis Syndrome (JPS) At risk for colon, small bowel, stomach, and pancreatic cancer

Answer 414

EGD, Capsule, Colon every 2 years If dysplasia is present then go to surgery

Answer 415

Puetz-Jeghers Syndrome STK11 gene

Answer 416

Hamartomatous polyps and >2 of the following: Family History Mucocutaneous pigementation Small bowel polyposis

Answer 417

EGD, Capsule, Colon every 2 years from age 8 or whenever symptoms occur

Answer 418

Cowden Syndrome aka Multiple Hamartoma Syndrome Increased risk for breast, thyroid, skin, endometrial, colon cancer

Answer 419

Bannayan-Riley-Ruvalcaba Syndrome

Answer 420

5-FU with or without irinotecan 5-FU damages intestinal mucosa leading to loss of epithelium and increased secretion of fluids than can be absorbed by the colon leading to diarrhea Irinotecan causes apoptosis and mucin hypersecretion Cna cause neutropenic enterocolitis - typhlitis

Answer 421

Meissner plexus is located at the base of the submucosa Aerbach plexus lies between the inner circular layer and the outer longitudinal layers

Answer 422

Because they have an immature digestive system with impaired absorptive capacity They have the most trouble digesting lipids because bile acid and pancreatic enzymes and lipase are reduced Human milk contains lipase making it more easy to be absorbed

Answer 423

Folic acid

Answer 424

Chronic diarrhea is diarrhea that occurs for > 4 weeks Rotavirus and adenovirus cause "post-enteritis syndrome" in immunocompetent children Cryptosporidium causes chronic diarrhea in immunocompromised children

Answer 425

It raises the possibility of congenital intestinal lymphangiectasia. However, in congenital intestinal lymphangiectasia, lymphatics are blocked and drain backwards into the bowels, leading to fat – rather than sugar – malabsorption

Answer 426

Hepatopulmonary syndrome Diagnose with bubble echo

Answer 427

Portopulmonary syndrome Confirm diagnosis with heart cath

Answer 428

i) macrovesicular > microvesicular steatosis ii) lobular inflammation consisting of neutrophils and lymphocytes (“mixed”) (iii) hepatocyte ballooning. Fibrosis (portal > perisinusoidal in children) and glycogenated nuclei may also be present. In severe cases, extensive fibrosis leading to cirrhosis is present.

Answer 429

GH def Hypothyroidism

Answer 430

Rectal prolapse results from intussusception of the upper rectum and sigmoid colon Predisposing factors, including: i) increased intra- abdominal pressure, from constipation, coughing, or vomiting ii) diarrheal illnesses, from parasites such as Ascaris lumbricoides and Trichuris trichiura or from malabsorptive syndromes such as celiac disease iii) malnutrition (hypoproteinemia leading to mucosal edema and smaller fat pads reducing perirectal support) iv) inflammatory lesions such as polyps producing lead points v) cystic fibrosis (may occur in 20% of CF patients under 3, from a combination of coughing, malabsorptive diarrhea, and malnutrition).

Answer 431

Decreased motility

Answer 432

(1) trapping HCO3- in the unstirred layer (2) preventing pepsin and gastric lipase from reaching and attacking the lining epithelial cells (3) lubricating the gastric lining to prevent abrasions from coarse food particles (4) neutralizing H+ with negatively charged glycoproteins and peptides of mucus (5) trapping ingested bacteria

Answer 433

Strong Alkali agents

Answer 434

Strong Acidic agents

Answer 435

Cause minimal harm as burns are usually superficial

Answer 436

caustic injury and chemical pneumonitis

Answer 437

Congenital Chloride Diarrhea MCC of severe congenital secretory diarrhea increased urine Cl and decreased HC03 excretion Hypochloremia and metabolic alkalosis Tx: lifelong KCl and NaCl supplementation and PPI to decrease acid secretion

Answer 438

secreted from G cells in stomach after gastric distention Increases H+ secretion

Answer 439

Secreted from I cells in the duodenum and jejunum - Contracts the gallbladder - Relaxes Sphincter of Oddi - Increases secretion of pancreatic enzymes and Bicarb secretion - decreases gastric emptying - growth of exocrine pancreas and gallbladder

Answer 440

Secreted from S cells in the duodenum Stimulated by acid and fatty acids in the small bowel - Causes secretion of bicarb from the pancreas and biliary system Inhibits gastric acid secretion

Answer 441

excreted from GIP cells in the small bowel increases insulin secretion and decreases gastric acid secretion

Answer 442

Causes forward motility

Answer 443

secreted by enterochromaffin cells in the stomach stimulated by gastrin increases gastric acid secretion

Answer 444

secreted from D cells in the pancreas, stomach, and bowel decreases release of all GI hormones and decreases secretion of gastric acid

Answer 445

Relaxes GI smooth muscles and causes vasodilation Increases secretion of bicarb from the pancreas and decreases gastric sacid secretion increases intestinal secretions

Answer 446

increases gastrin release from G cells

Answer 447

increase contraction of GI smooth muscles and decreases intestinal secretion of fluid and electrolytes

Answer 448

Glucose-galactose malabsorption Treat with elimination of glucose and galactose Give fructose containing formula

Answer 449

Low cholesterol Low serum lipoprotein Low TGs Biopsies with fat-laden enterocytes Tx: low cholesterol and TG diet and MCT and fat soluble vitamin supplements

Answer 450

Only given antibiotics for nontyphoidal salmonella diarrhea to children < 3 months of age and older children who are immunocompromised

Answer 451

Shigella - most common cause of diarrhea, esp in daycare centers - children 1-4 years of age have the highest incidence - bloody diarrhea and SEIZURES are common - self-limited but antibiotics can be given in severe cases - Shiga-toxin HUS; no antibiotics because this leads to worsening HUS - Acalculous Cholecystitis can be seen after Shigella/Salmonella

Answer 452

Yersinia entercolitica - bacteremia more common in children < 1 year of age and in older children with iron overload, especially those who are transfusion dependent

Answer 453

Campylobacter tx: azithromycin if patient is chronically ill, immunocompromised, if they have high fever, bloody stools, or more than 1 week of symptoms

Answer 454

E coli O157:H7 - Do not treat with antibiotics because it doesn't work! - common reservoirs include uncooked beef and unpasteurized milk or apple juice

Answer 455

IPEX syndrome compromised suppressor function of T cells so colonoscopy shows massive infiltration of lamina propria with T cells and villous atrophy Fatal if untreated so give TPN and HSCT

Answer 456

Common Variable Immunodeficiency - recurrent sinopulm infections with encapsulaed bacteria - def of at least two immunoglobulins - poor immunoglobulin function - presents in teens and 20s - B cells recognize the antigen but cannot make plasma cells - nodular lymphoid hyperplasia and splenomegaly - PANhypogammaglobulinemia leads to recurrent infections, giardia, unexplained bronchiectasis - tx: monthly IVIG

Answer 457

X-linked Bruton Agammaglobulinemia - XLA - strictly in males - recurrent infections in absent to low IgG leels - mutation in BTK gene that encodes for Bruton tyrosine kinase which is needed for B cell development - healthy until 4-6 months of age at which time they are no longer getting IgG from their mother - normal T cell immunity - recurrent infection with encapsulated organisms - treat with month IVIG and no live virus vaccines

Answer 458

Wiskott-Aldrich Syndrome - SMALL platelets (ITP has LARGE platelets) - increased risk of lymphoma “EXIT” - Eczema, X-linked, Immunodeficiency, Thrombocytopenia risk of lymphoma; low IgM, high IgG/IgA - get invasive infections from encapsulated organisms treat with antibiotics, IVIG and possible splenectomy might require BMT before age 5

Answer 459

Sulfasalazine and Mesalamine Used to induce or maintain remission Anti-inflammatory as it inhibits prostaglandin and leukotriene synthesis. Minimally absorbed so it can decrease inflammation of bowel SE: folic acid deficiency, pancreatitis, interstitial nephritis, hepatitis

Answer 460

6-Mp and AZA Maintains remission and can be used in combination with anti-TNFs Antimetabolite actions lead to immunoosuppression and lymphotoxicity and may decrease antibody formation SE: bone marrow suppression, hepatotoxicity, pancreatitis, lymphoma, skin cancer Monitor TPMT enzyme activity as well as CBC, LFTs

Answer 461

Infliximab and Adalimumab Neutralizes TNF alpha and blocks leukocyte migration and induces apoptosis of T cells and monocytes SE: lymphoma, nonmelanoma skin cancer, TB, psoriasis, demyelination syndrome

Answer 462

Vedoluzimab (Entyvio) and Nataluzimab monoclonal IgG therapies that work against alpha 4 beta 7 integrins This inhibits leukocyte migration across endothelium in inflamed bowel Nataluzimab can cross the blood brain barrier and cause progressive multifocal leukoencephalopathy in patients positive for JC virus so get titers for JC virus

Answer 463

Behçet Disease - pin, recurrent oral/genital ulcers, inflammatory eye disease - positive pathergy test: skin prick with papules 2 days later - recurrent oral and GU ulcers that heal without scarring - arthritis, vasculitis, CNS issues

Answer 464

Juvenile Polyps Peutz-Jeghers Syndrome Juvenile Polyposis Syndrome

Answer 465

FAP Gardner Syndrome Lynch Syndrome

Answer 466

Hypoketotic hypoglycemia

Answer 467

MCAD deficiency (fatty oxidation disorder) Diagnose with urine organic acids and acylcarnitine profile Liver biopsy shows microvesicular hepatic steatosis and mitochondrial disruption

Answer 468

Lactate/pyruvate ratio, 1 hr after feeding

Answer 469

Organic acidemia

Answer 470

Niemann Pick Disease Type C - when cholesterol accumulates within the lysosomes of the reticuloendothelial system - results in secondary build up of GM2 ganglioside molecules - cherry red spots on eye exam

Answer 471

Gaucher Disease Type 1 - deficiency of lysosomal glucocerebrosidase - non-CNS disease with splenomegaly - liver biopsy shows portal macrophages that are weakly PAS positive with "crinkled paper" appearance

Answer 472

Mycophenolate Insulin Diazepam Tacro Steroids

Answer 473

Tylenol Halothane

Answer 474

Minocycline Nitrofurantoin Remicade

Answer 475

Cyclosporine Estrogen Augmentin Haloperidol

Answer 476

Carbemazapine PCN Sulfonamides Isoniazid Allopurinol

Answer 477

OCPs and anabolic steroids

Answer 478

L-asparaginase

Answer 479

Valproic acid and tetracycline

Answer 480

Valproic acid and tetracycline

Answer 481

Amiodarone

Answer 482

The immune clearance phase is characterized by high levels of HBV DNA, elevated ALT levels, and active liver inflammation. Initially, those in the immune clearance phase will be HBeAg-positive and most will eventually clear HBeAg and develop antibody to hepatitis B e antigen (anti-HBe).

Answer 483

Active impressive Hep B with no evidence of immunity In the immune‐tolerant phase, the host immunity against HBV is weak. So, the viral load is high. AST/ALT is low because there is no attack on the infected hepatocytes by the weak host immune system. In the immune‐active phase, host immunity become strong and infected hepatocytes are attacked, and AST/ALT increases.

Answer 484

Positive and Negative Predictive values - If the disease is very prevalent, then a positive test is likely to be a true positive - If a disease is very rare, a positive test is less likely to be a true positive

Answer 485

The occurrence of new cases of a disease within a specified period of time - Also the probability that a person develops that disease during that period of time - (total # of new cases of a disease)/(total # tested during a specific time)

Answer 486

Sensitivity - how well it correctly identifies those who have the disease = TP/(TP + FN) = TP/ #diseased - tests that are highly sensitive will have a low false-negative rate - SNOUT: SeNsitive tests help rule OUT disease

Answer 487

Specificity - highly specific tests convey with certainty that a positive result means that a actually has the disease - SPIN: SPecific tests help rule IN a disease - because the false-positive rate is so low = TN/ (TN+FP) = TN/(#not diseased)

Answer 488

Percent of people in a population who have the disease at any given point in time = #diseased/total in studied population - indicates how widespread a particular disease is

Answer 489

Positive Predictive Value - Probability of disease in a patient with a positive test - Takes into consideration number of true and false positives - Reflects prevalence - Percentage of positive tests that are actually true positives so the higher the number the better = TP/(TP+FP)

Answer 490

Cohort and Case-Control Studies - attempt to correlate exposures with outcomes - Case Control coparents subjects with a condition and patients without the condition and retrospectively analyzes whether risk factors are more common in the cases or controls - Cohort: follow a group of people prospectively over time to see which exposures cause disease - an observational study that coparents prospectively over time a group of subjects with a particular treatment, exposure, or condition vs a group of unexposed subjects - allows for evaluation of multiple potential effects over time for a particular exposure - did the exposure cause the effect or were there other factors unaccounted for? - Case-Control: comparing people with the disease to those without the disease to identify relevant risk factors - coparents subjects with a condition and patients without the condition and retrospectively analyzes whether risk factors are more common in the cases or controls

Answer 491

Type 1 and 2 Errors - Tye 1 Error: concluding there is a difference between groups or outcomes (rejecting null hypothesis) when there is not. Exposed by investigating the p value - Type 2 Error: concluding there is not difference between groups and outcomes (accepting the null hypothesis or failing to reject the null hypothesis) when one actually exists. Exposed by investigating the power of a study

Answer 492

Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols Monosaccharides - fructose Disaccharides - lactose Oligosaccharides - fructans and galactans Polyols - sorbitol, mannitol, isomalt

Answer 493

Urea Cycle Defect

Answer 494

Fatty Acid oxidation disorders

Answer 495

Organic acidemia

Answer 496

Maple Syrup Urine Disease