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diagnosis pediatrics metabolism table algorithm causes iem inbornerrors management neonatology nicu syndrome 21hydroxylasedeficiency 21ohd age calculi calculus cardiology cardiomyopathy comparison
Simplified Diagnosis of Metabolic Disorders #Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Disorders #Diagnosis #Peds ... Metabolism #Metabolic #Diseases ... Disorders #Ketones #Ammonia ... #Differential #
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
major sources of ammonia ... decompensated liver disease ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential
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
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Types of Renal Calculi Calcium oxalate - Interstitial apatite plaque, Low urine volume, Increased urinary calcium excretion,
Autosomal recessive genetic ... disease (incidence ... - Magnesium, ammonium ... Infection with ammonia-producing ... Renal #stones #differential
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
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Valvular heart disease ... Congenital heart disease ... Genetic predisposition ... teratogenic GDMT meds
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs
Age Distribution of Hypertension Etiologies < 1 month - Renal arterial thrombosis - Congenital renal disease -
Congenital renal disease ... - Renovascular disease ... - Mendelian genetic ... Secondary #diagnosis #differential ... age #pediatrics #peds
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