26 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... the lab values table ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics
Congenital TORCH Infections

Dr. Natalie Marshall @MicrobeNat

#Congenital #Infections #Comparison #Table #pediatrics #diagnosis #symptoms #TORCH
Infections #Comparison #Table ... #pediatrics #diagnosis ... #symptoms #TORCH
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
) - Comparison Table ... SIADH #Comparison #Table ... #Pathophysiology ... #Signs #Symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Congenital Infections - Comparison Table:
Infections: Toxoplasma, Rubella, CMV, Treponema, Parvovirus B19, VZV, Herpes, Enterovirus
Manifestations: Anemia, Bony
Infections - Comparison Table ... Infections #Comparison #Table ... #pediatrics #diagnosis ... #symptoms #TORCH
Types of Chronic Urinary Incontinence

Type, Prevalence, Pathophysiology and Symptoms:
 - Stress
 - Urge
 - Mixed
 -
Type, Prevalence, Pathophysiology ... and Symptoms: ... Types #Comparison #Table
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Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... old; F>M Signs/Symptoms ... Temporal #Arteritis #Pathophysiology ... Diagnosis #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics