Gastro Cram Flashcards

1
Q

Pathogenesis of eosinophilic oesophagitis?

A

Infiltration of epithelium with eosinophils

T-helper type 2 cytokine mediated

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2
Q

Investigation findings of eosinophilic oesophagitis?

A

Eosinophilia, high IgE

Endoscopy: longitudinal furrows with white plaques and loss of vascular patterns

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3
Q

Diagnosis of eosinophilic oesophagitis?

A

> 15 eosinophils on biopsy

Persistence of eosinophilia after PPI trial

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4
Q

Management of eosinophilic oesophagitis?

A

Elimination diet of allergens - milk & wheat common
PPI
Topical steroid - fluticasone/budesonide
Anti IL-5 agents (mepolizumab)

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5
Q

Complications of eosinophilic oesophagitis?

A

Stricture
Perforation
Food bolus - needs endoscopic removal

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6
Q

Pathogenesis of GORD?

A

Transient relaxation of LES -> oesophagitis

Disease = reflux + epithelial change, FTT/asp pneumonia

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7
Q

Peak of physiologic reflux?

A

4 months, usually settles by 12-18mths

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8
Q

GORD with torticollis / dystonic writhing movements and food refusal?

A

Sandifer Syndrome

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9
Q

Management of GORD?

A
Positioning
Proper feed technique, volume and frequency
Thickened feed
Hypoallergenic diet 
PPI -> reduces acidity and discomfort
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10
Q

SEs of PPIs?

A

Respiratory infections
C Diff, Candida
Low magnesium and low B12
Interstital nephritis

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11
Q

Indications for fundoplication?

A
Not responsive to medical therapy
Peptic strictures or Barrett's
Gastrostomy feeds
Respiratory disease
Neurological disease
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12
Q

Difference between ulcerative colitis and Crohn’s?

A

Crohn’s - panenteric; UC - colonic
Crohn’s - skip lesions; UC - confluent
Crohn’s - transmural inflammation; UC - Mucosal
Crohn’s - Granulomas; UC - none

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13
Q

Most common mutation causing Crohn’s?

A

NOD2

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14
Q

Extra-intestinal manifestations of Crohn’s?

A

Episcleritis (topical steroids)
Uveitis (systemic steroids)
Acute anterior uveitis (urgent topical/systemic steroids) and secondary glaucoma
Erythema nodosum
Pyoderma gangrenosum (less than UC)
Anal fissures 6 and 12 o’clock
Arthritis (<5 joints HLA-B27; >5 HLA-B44)

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15
Q

Abdo pain, diarrhoea and weight loss?

A

Crohn’s

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16
Q

Abdo pain, diarrhoea and PR bleeding?

A

UC

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17
Q

Induction of remission in Crohn’s

A
  1. Exclusive enteral nutrition (better for mucosal healing)
  2. Steroids
  3. Infliximab
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18
Q

Maintenance therapy in Crohn’s?

A

Mesalazine/sulfasalazine
Azathioprine (6MP prodrug)
Methotrexate
Infliximab/Adalimumab

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19
Q

Azathioprine SEs?

A
Hypersensitivity - rash, fever
Hepatitis
Reduced cell counts - TMPT genotype & monitor
Pancreatitis
HSV and HPV
Hepatosplenic T-cell lymphoma
Sun sensitivity
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20
Q

Anti-TNF alpha SEs?

Infliximab (chimeric) /Adalimumab (human)

A

Hepatosplenic T-cell lymphoma (with AZA)
TB reactivation
Demyelination syndrome
Lupus like syndrome

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21
Q

Indications for surgical management of Crohn’s?

A
Failure of medical management
Recurrent obstruction
Perforation
FIstula/abscess
If terminal ileum ONLY & poor growth
Carcinoma
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22
Q

When to start bowel ca screening in IBD?

A

10 years after colonic disease diagnosed

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23
Q

Extra-intestinal manifestations in UC?

A
More common than Crohn's
Pyoderma gangrenosum 
Sclerosing cholangitis
Hepatitis
Ankylosing spondylitis
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24
Q

Child with UC presents with fever, profuse stooling (>5/day), low Hb, low albumin, and high WCC?

A

Fulminant colitis

DO NOT SCOPE - risk of toxic megacolon and perforation

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25
Q

Induction of remission in UC?

A
  1. Steroids
  2. Cyclosporin
  3. Infliximab
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26
Q

Maintenance therapy in UC?

A

Mesalazine/sulfasalazine
Azathioprine/6MP
Probiotics helpful

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27
Q

Indication for surgery in UC?

A

Haemorrhage
Perforation
Cancer
Refractory acute disease

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28
Q

Methotrexate SEs?

A
Nausea - 25%, reduce with folate
Liver toxicity
Bone marrow suppression
Infections
Pulmonary fibrosis
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29
Q

Pathogenesis of coeliac disease?

A

T-cell mediated inflammatory disorder
Altered intestinal permeability
Gliadin stimulates IL-15 which activates T-cells with HLA-DQ2,8

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30
Q

Biopsy findings in coeliac?

A

High intra-epithelial lymphocytes
Villous atrophy
Crypt hyperplasia
Loss of brush border

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31
Q

Disorders associated with coeliac?

A
T1DM
Autoimmune thyroid disease
Addison
Sjogren
Autoimmune cholangitis/hepatitis
Primary billiary cirrhosis
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32
Q

if TTg greater than normal but less than 10x normal range?

A

Proceed to scope

If TTg is >10x normal and positive EMA no scope required

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33
Q

Role of HLA-DQ2,8 typing?

A

Screening of family members
Excluding coeliac if on a GF diet
Stratification for biopsy need

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34
Q

Painful and intensely pruritic rash in coeliac?

A

Dermatitis herpetiformis

Gluten avoidance & dapsone

35
Q

Risk factors for coeliac disease?

A
Down syndrome highest risk
1st degree relative
T1DM
Autoimmune thyroid disease
IgA deficiency
Juvenile arthritis
Turners, Williams syndromes
36
Q

Meckel’s Diverticulum rule of 2?

A
2% of infants
2% symptomatic
Up to age 2
2 inches long
2ft proximal to ileocecal valve
2 types of tissue - gastric and pancreatic
37
Q

Painless rectal bleeding with normal external exam

A

Meckel’s

38
Q

Enzyme responsible for conjugation of bilirubin?

A

BUGT

39
Q

Enzyme defect in Gilbert’s Syndrome?

A

Extra TATA repeat reduces BUGT enzyme activity

40
Q

Causes of isolated unconjugated hyperbilirubinaemia?

A
Gilbert's (reduced BUGT)
Criggler Najjar (absence of BUGT)
41
Q

Bile duct paucity?

A

Alagille’s

42
Q

RAS positive diastase resistant granules?

A

A1 Anti-trypsin deficiency

43
Q

MRD3 staining?

A

Progressive Familial Intrahepatic Cholestasis type 3

44
Q

Causes of conjugated hyperbilirubinaemia and pale stools/dark urine?

A

Neonatal hepatitis
Biliary Atresia
A1 Anti-trypsin

45
Q

Episodic cholestasis with lymphedema of lower limbs?

A

Aagenaes syndrome

46
Q

Liver disease, renal cysts, hypotonia, psychomotor retardation. Hepatic cells on ultrasound have no peroxisomes?

A

Zellweger’s

Autosomal recessive inheritance

47
Q

Major features of Alagille’s?

A
Cholestasis with bile duct paucity
Cardiac lesions - peripheral PS/tetralogy
Posterior embryotoxon
Vertebral anomaly 
Dysmorphic facies
48
Q

Minor features of Alagille’s?

A
Vascular anomalies - circle of willis 
Short stature, short radii
Delayed puberty
High pitched voice
Renal anomalies
Hypercholesterolaemia
49
Q

Common complications of Alagilles?

A

Pruritic (bile salt accumulation in skin)

VItamin E deficiency

50
Q

Hepatomegaly
Conjugated hyperbilirubinaemia
Persistently acholic stools

A

Biliary Atresia

51
Q

Syndromic biliary atresia?

A
Biliary atresia and splenic malformation (BASM)
Abdominal stud inversus
Polysplenia
Portal vein anomalies
Malrotation
52
Q

Optimal timing for Kasai?

A

<1month
Worth considering still if older or has “non-correctable” type to decompress/drain biliary tree while awaiting transplant

53
Q

Mixed hyperbilirubinaemia
FTT
Renal tubular acidosis
Sepsis - E. Coli

A

Galactosaemia

54
Q

Defect in galactosaemia?

A

Autosomal recessive

GALT, GALK or GALE deficiency

55
Q

Is galactoseaemia included in newborn screening in Vic?

A

No

56
Q

Liver disease
Neuro/psych manifestations
High AST:ALT ratio, normal/low ALP
High urinary copper, low caeruloplasm

A

Wilson’s Disease

ATP7B mutation - copper transport dysfunction

57
Q

Management of Wilsons?

A

Penicillamine first line
Trientine second line
Zinc supply if pre-symptomatic only

58
Q

Penicillamine SEs?

A

B6 deficiency and parasthesia

59
Q

Defect in A1 anti-trypsin deficiency?

A

SERPINA1 gene defect
Results in Z allele - PiZZ
Heterozygotes PiZ increase risk of liver disease later (NAFL, hep C)

60
Q

Massive hepatomegaly in infants

A

Neonatal haemochromotosis
Glycogen storage disorder
Hepatic haemagioma

61
Q

Most common malignant and non-malignant hepatic tumours in infancy?

A

Malignant - hepatoblastoma

Non-malignant - hepatic haemangioma

62
Q

Conditions associated with hepatocellular carcinoma?

A

Glycogen storage disorders
Tyrosinaemia
Progressive Familial Intrahepatic Cholestasis 2

63
Q

Conditions associated with hepatoblastoma?

A

Beckwith Wiedemann
FAP
Congenital retinal pigmentation

64
Q

Most common cause of acute liver failure?

A

Seronegative viral infection

Viral most common; metabolic second most

65
Q

Highest risk population for chronic Hep B carriage?

A

Neonates - 95% become chronic asymptomatic carriers if exposed

66
Q

Complication of Kasai procedure?

A

Ascending cholangitis - conduit not sterile

Recurrent cholangitis is indication for transplant

67
Q

Bile duct dilatation and renal cysts?

A

Caroli Syndrome

68
Q

Most common causes of paediatric pancreatitis?

A
Idiopathic
Trauma
Biliary stones
Systemic - HUS/IBD
Drugs - valproate, asparaginase, azathioprine/6MP
69
Q

Use of TPN in pancreatitis?

A

NEVER

70
Q

Complications of pancreatitis?

A

Pseudocyst

Pancreatic abscess

71
Q

Hereditary pancreatitis?

A

SPINK1

72
Q

Hirschprung Disease mutation?

A

RET

73
Q

Chronic diarrhoea
Steatorrhoea
Low lymphocytes and low Ig
Recurrent infection

A

Intestinal lymphangiectasia

74
Q

Glucose galactose malabsorption mutation?

A

SCL5A1

75
Q

Hereditary fructose malabsorption mutation?

A

ALDOB

76
Q

Coeliac gene with highest risk of refractory disease/enteropathy-related T cell lymphoma?

A

HLA-DQ2

77
Q

Brown spots/macules peri-oral
Bowel polyp
Fhx colon/breast ca

A

Peutz-Jegher

Germline STK mutation (tumour supressor gene)

78
Q

Polyp and location in Peutz-Jegher syndrome?

A

Hamartomatous polyps
small bowel (60-90%, most jejunal)
15x increase in malignant transformation

79
Q

Chronic abdo pain
Altered bowel habits
No organic cause

A

Irritable Bowel Syndrome

80
Q

Management of IBS?

A

Diet

CBT

81
Q

Intestinal failure/short-gut
Long term PN
Cholestatic LFTs

A

Intestinal Failure Associated Liver Disease

82
Q

Management of intestinal failure associated liver disease?

A

Avoid soybean emulsion (fish-oil preferred)
Reduction of trace elements
Urso

83
Q

Most common location of gastric and duodenal ulcers?

A

Gastric ulcers - lesser curvature of stomach

Duodenal ulcers - 90% duodenal bulb

84
Q

Management of H Pylori and antibiotic resistance?

A

Triple therapy - amoxy, clarithro and PPI

50% of H Pylori in Aus resistant to metro