512 results
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics ... #Favism #g6pd #NEJM
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Baby Sneeze in Utero - Fetal Ultrasound

Vivienne Meljen, MD @StethoscopeOn

#Baby #Sneeze #Utero #POCUS #Fetal #Ultrasound #POCUS
Baby Sneeze in Utero ... #Baby #Sneeze #Utero
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Fetal Yawn on Fetal Ultrasound

The fetal yawn will always be one of my favorite in utero
my favorite in utero
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
do not occur in utero ... pathophysiology #genetics
Goal-Directed Therapy - Evidence Summary of Major Clinical Trials

 - EGDT: NEJM 2001

 - ProCESS: NEJM
Trials - EGDT: NEJM ... - ProCESS: NEJM ... 2014 - ARISE: NEJM ... - ProMlSe: NEJM
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
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