9 results
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Oxidative Damage #Pathophys ... #Peds #Genetics
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
#Pathophys #Peds ... #Genetics #Honc
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Neonatology #Peds
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Causes of Hypomagnesemia ... Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Magnesium #Low #Causes ... Differential #Diagnosis #Algorithm
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Causes of Pelvic ... Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm ... #Causes #Gynecology
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Differential Diagnosis Algorithm ... Syndromic • Genetic ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... pathophysiology #genetics ... endocrinology #peds
Refractory Helicobacter Pylori Infection

Causes:
 • Antibiotic resistance (i.e. prior antibiotic exposure to levofloxacin)
 • Non-adherence (i.e.
Pylori Infection Causes ... suppression) • Host genetics ... CYP2C19) • Non-genetics ... diagnosis #management #algorithm