Gastro Flashcards
Risk factors for pyloric stenosis
Prematurity
bottle fed
male sex
first born child
FH
Wilsons disease - inheritance
AR
mutation in gene ATP7B chromosome 13
Presentation of Wilsons disease
hepatic involvement - liver failure, chronic cirrhosis or hepatitis
personality changes and mood disorders
movement disorders - asymmetrical tremor
ataxia, clumsiness with hands
Kayser-Fleischer rings (green/gold or brown ring on cornea)
renal faconi syndrome
myopathy
cardiac arrythmias and cardiomyopathy
hypoparathyroidism
pancreatitis
infertility
Diagnosis of Wilsons
- low serum caeruloplasmin and presence of Kayser-Fleischer rings
- elevated basal 24 hour urinary excretion of copper
- increased intrahepatic copper secretions
- definitive = liver biopsy (only if other results unclear)
Management of Wilson’s
avoid high copper foods: liver, chocolate, nuts, mushrooms, legumes, shellfish
start on chelating agent: penicillamine or trientine
stable patients continue with low dose chelating agent and zinc or just zinc
Macroscopic findings on endoscopy in UC
friable mucosa
mucosal and submucosal inflammation
goblet cell depetion
crypt abscesses
Macroscopic findings on endoscopy in Crohns
transmural inflammation
apthous ulcers
fissures
cobblestoning
strictures
non caseating granulomas
what causes mumps
RNA virus
Criggler Najjar Syndrome
severe persistent unconjungated hyperbilirubinaemia
happens in first few days of life
defect in UGT1A1 gene (which conjugates bili)
treatment: phototherapy and plasmapheresis
Duodenal atresia
double bubble sign on xray
anatomical location most likely for obstruction second segment of duodenum
Difference between gram neg and gram pos organism
cell walls of gram pos lack lipopolysaccharies - these form outer layer of all gram neg organisms
which HLA associated with coeliac
HLA-DQ2
HLA-DQ8
Which HLA associated with 21 hydroxylase deficincy - most common cause CAH
HLA-B47
Which HLA associated with risk developing T1DM
HLA-DR3 (also associated with SLE and autoimmune hepatitis)
HLA-DR4
what is seen on microscopy for someone with coeliac
crypt hyperplasia and flattened duodenal mucosa