10 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
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
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... sweating, trembling, nausea ... PanicDisorder #Anxiety #BehavioralDisorder ... #Pathophysiology
Conduct Disorder (CD): Pathogenesis and clinical findings
 - Must have >3 symptoms present in the past
Conduct Disorder (CD ... physical fights • Uses ... weapon that can cause ... #BehavioralDisorder ... #Pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... Familial) HLH: - Genetic ... Pathophysiology ... of NK cells and CD8
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... : The exact cause ... neutropenia (CyN) This genetic ... It causes the absolute ... Serial CBC counts