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pediatrics differential iem inbornerrors metabolism neonatology nicu signs algorithm cardiology diabetes encephalopathy endocrinology fallot hyperthermic insipidus kleefstra laboratory metabolicemergency neurology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #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 ... Tetralogy #Fallot #diagnosis ... #peds #pediatrics
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table Diabetes Insipidus - Inadequate ADH SIADH -
Diabetes Insipidus vs Syndrome ... Table Diabetes ... #Table #Pathophysiology ... #Signs #Symptoms ... #Diagnosis #Endocrinology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... and Management ... survival is 93-95% Pathophysiology ... Self-limiting, chronic but stable ... #Management #Signs
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... factor PRES Diagnosis ... Neurological symptoms ... Seizures: Treat with AEDs ... #diagnosis #management
Hyperthermic Toxidromes Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures. • Sympathomimetic -
• Serotonin Syndrome ... serotoninergic meds ... disease caused by genetic ... Hyperthermic #Toxidromes #comparison ... #table #diagnosis
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