2867 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Duchenne Muscular Dystrophy (DMD)
The term "Muscular dystrophy" refers to a group of inherited progressive muscle disorders.
#Duchenne #MuscularDystrophy ... Features #Signs #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... palliation • Post-Op Management ... Fallot #diagnosis #management
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics
Primary and Secondary Causes of Cardiomyopathy
(a) Primary cardiomyopathies 
 - Genetic 
 - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (genetic
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic
Hypertrophic Cardiomyopathy (HOCM) - Diagnosis and Management
Diagnosis
 1. Wall thickness 215 mm (TTE/CT/MRI) 
 2. Absence
Diagnosis and Management ... LVH (Supportive: genetic ... HOCM #Diagnosis #Management
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic