45 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
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
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hyperkalemia, Hypoglycemia ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Stress Fracture: Pathogenesis and clinical findings
Abnormal biomechanics, Repetitive impact activities
=> Repetitive subthreshold mechanical loading
=> Bone strain
=>
StressFractures #msk ... #orthopedics #pathophysiology ... #symptoms #signs
Pathyophysiology - hyperglycemic crises in patients with diabetes 
Key signs/symptoms of HHS/DKA:
Both: Polyuria, polydipsia, weight loss,
Pathyophysiology ... - hyperglycemic ... diabetes Key signs/symptoms
Patellofemoral Syndrome - Pathogenesis and clinical findings
 • Anterior Knee Pain with possible symptoms of 'catching'
with possible symptoms ... Patellofemoral #Syndrome #pathophysiology ... diagnosis #signs #symptoms ... #msk
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
paresthetica • Symptoms ... 3-6 months of symptom ... mass Sensory Symptoms ... MeralgiaParesthetica #MSK ... #pathophysiology
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