15 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 ... palliation • Post-Op Management ... Fallot #diagnosis #management ... cardiology #peds #pediatrics
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... Pre-operative Management ... Post-operative Management ... cardiology #peds #pediatrics
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Epidemiology • Pathophysiology ... Treatment • Clinical ... Summary #diagnosis #management ... #geriatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... Intrahepatic Cholestasis Management ... Maternal Support - Critical ... obgyn #diagnosis #management ... #pathophysiology
Infantile Spasms 
Associated with Tuberous Sclerosis 
1) Flexor spasms: Sudden flexion of neck, trunk, arms, and
Infantile Spasms ... of the legs Clinical ... EEG pattern Management ... seizures #Infantile ... #Spasms #Peds #Pediatrics
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
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... phenytoin, minoxidil), genetic
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
CHOLANGITIS - Genetic ... indications for liver ... disease management ... remain subject to clinical ... Cholangitis #diagnosis #management
Metformin Associated Lactic Acidosis (MALA) 

Pathophysiology of MALA
 - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... cycle found in the liver ... presentation - Clinical ... Toxicology #Diagnosis #Management