12 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
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
Hemophagocytic Lymphohistiocytosis (HLH)
Pathophysiology: Triggering factor (infection,...)→Activation of CD8 T cells (IFN-y) → Excessive activation of macrophages
Lymphohistiocytosis (HLH ... ) Pathophysiology ... →Activation of CD8 ... Drugs, Unknown cause ... 100 mg/m2) : in case
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
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
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
HLH is a critical ... hyperinflammatory syndrome caused ... : - Genetic ... Pathophysiology ... of NK cells and CD8
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... adenoma, ↓(TFT, LH ... or refractory cases ... Endocrinology #Treatment #Pathophysiology
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
Causes of Male Infertility ... Differential Diagnosis Algorithm ... : • Genetic abnormality ... Differential #Diagnosis #Algorithm ... #Causes #PrimaryCare