17 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics ... #treatment
Acute-on-Chronic Liver Failure (ACLF) Clinical Guidelines

ACLF = possibly reversible condition in those with CLD (± cirrhosis)
Acute-on-Chronic Liver ... Failure (ACLF) Clinical ... those with CLD (± cirrhosis ... months without treatment ... #Failure #Cirrhosis
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Epidemiology • Pathophysiology ... Diagnosis • Treatment ... • Clinical Course ... diagnosis #management #geriatrics
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
CHOLANGITIS - Genetic ... • CIRRHOSIS - ... indications for liver ... and end-stage liver ... remain subject to clinical
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis via genetic ... lymph node, or liver ... • Bicytopenia Treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hepatopulmonary Syndrome - Diagnosis and Management Summary
A defect in arterial oxygenation due to a gas exchange
the setting of liver ... shunt (Type 2) Clinical ... with or without cirrhosis ... ) on room air Treatment ... diagnosis #management #treatment
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment ... #Pathophysiology
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... in Children #Cirrhosis ... Diagnosis #Peds #Pediatrics