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iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd algorithm cardiology differential endocrinology fallot laboratory management metabolicemergency nightmares otitismedia parasomnias patterns
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
additions, for diagnosing ... 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 ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings Parasomnias - Micro-arousal episodes during SWS -> Intense activation of
Pediatric Parasomnias ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
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