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diagnosis pediatrics causes iem inbornerrors metabolism neonatology nicu 21hydroxylasedeficiency 21ohd cardiology cardiomyopathy comparison developmentaldelay endocrinology hyperthermic laboratory male management metabolicemergency
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Male Infertility - Differential Diagnosis Algorithm Sperm Transport: • Vasectomy • Cystic fibrosis gene mutation
Causes of Male Infertility ... - Differential ... Diagnosis Algorithm ... High FSH/LH: • Genetic ... #Differential #
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... during Delivery • Stable ... teratogenic GDMT meds
Hyperthermic Toxidromes Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures. • Sympathomimetic -
serotoninergic meds ... disease caused by genetic ... Toxidromes #comparison #table ... #diagnosis #differential
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