23 results
management genetics symptoms hematology neurology signs cardiology erythematosus iem inbornerrors lupus metabolism neonatology nicu systemic treatment 21hydroxylasedeficiency 21ohd agraphia alexia
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... the lab values table ... #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 ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Aortic Stenosis & Bicuspid Aortic Valve (AS) • Introduction & Pathophysiology • Classifications • Epidemiology •
Introduction & Pathophysiology ... Epidemiology • Clinical ... • Radiologic/Diagnostic ... AorticValve #cardiology #peds ... #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings Parasomnias - Micro-arousal episodes during SWS -> Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #pharmacology #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Myositis Specific Antibodies (MSAs) Dermatomyositis: MDA5, TIF1y, NXP2, Mi-2, SAE Anti-Synthetase Syndrome: Jo-1, PL7, PL12, EJ, OJ Immune Mediated
Anti-Synthetase Syndrome ... Antibodies #MSAs #clinical ... #diagnosis #rheumatology ... #table
CRIES is a 10-point scale, using a physiologic basis similar to APGAR: Crying; Requires increased oxygen
1995) CRIES (Table ... in the ED, the clinician ... #Diagnosis #Peds ... #Pediatrics #PainScale
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
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