7189 results
McConnell's Sign on POCUS Echocardiogram

2 patients w/ different diagnoses.  Both demonstrate an apical 4-chamber view
McConnell sign (hypo kinetic ... Echocardiogram #clinical
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Harlequin #Ichthyosis #clinical ... physicalexam #pediatrics #genetics
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... PraderWilli #Syndrome #genetics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
#Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics
FIASP - Insulin Aspart vs Novolog

Have you heard about Fiasp, a new version of insulin aspart
endogenous insulin kinetics ... well due to these kinetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
#lipoproteins #genetics
Obsessive-Compulsive Disorder (OCD): Pathogenesis and clinical findings

Psychological Hypothesis
 • Cognitive behavioral model: Emotional disturbance arising from
Pathogenesis and clinical ... regions suspected Genetics
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
other EGFR ab • Genetics