16 results
diagnosis pediatrics peds psychiatry differential metabolism signs symptoms anxiety causes iem inbornerrors management neonatology nicu riskfactors syndrome table 21hydroxylasedeficiency 21ohd
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
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
T-LGL leukemia - T-CeIl Large Granular Lymphocytic Leukemia Clinical - Persistent (>6mo) lymphocytosis (2-20k) with proven clonality
- Positive: CD2 ... , CD3, CD8 - Loss ... of CD5 and/or CD7 ... Rarely can be CD4 ... ALK, TFH, CD25 Genetics
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
Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Differential #Diagnosis #Algorithm
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm Herniation of one or more pelvic organs Risk factors:
Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm
Pathogenesis of Anxiety Disorders Anxiety Disorders: A maladaptive emotional state causing fear, worry, and excessive stress, characterized by:
reporting rates) • Genetics ... Anxiety #Disorders #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Refractory Helicobacter Pylori Infection Causes: • Antibiotic resistance (i.e. prior antibiotic exposure to levofloxacin) • Non-adherence (i.e.
suppression) • Host genetics ... CYP2C19) • Non-genetics ... diagnosis #management #algorithm
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