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diagnosis management algorithm iem inbornerrors metabolism neonatology nicu treatment cardiomyopathy comparison congenital developmentaldelay diagram encephalopathy examination fallot fontan hyperthermic infant
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 ... #Pediatrics #Table
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
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... diagnosis #management #cardiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... Delay - Differential ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Infertility • Decr Bone ... #genetics #pathophysiology ... #peds #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... the underlying cause ... Seizures: Treat with AEDs ... until cause identified
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
paediatrician or geneticist ... intra-abdominal masses ... Muscle tone is assessed ... #Examination #Peds ... #Pediatrics #Diagnosis
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... teratogenic GDMT meds ... diagnosis #management #cardiology
Fontan Procedure Schematic A Fontan is done in most children (approximately 90%) who effectively have a single
Schematic A Fontan is done ... or a congenital syndrome ... Diagram #congenital #Cardiology ... #Peds #Pediatrics ... #Pathophysiology
Hyperthermic Toxidromes Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures. • Sympathomimetic -
• Serotonin Syndrome ... pharmacogenetic disease caused ... by genetic susceptibility ... Toxidromes #comparison #table ... #diagnosis #differential
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