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diagnosis differential neurology management peds signs causes gitelman table treatment algorithm dementia endocrinology iem inbornerrors neonatology nicu ophthalmology refeeding rhabdomyolysis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... of information: Pediatrics ... , UpToDate #Pediatrics ... #Genetics #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... 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
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Refeeding Syndrome: Pathogenesis and clinical findings Patients at Risk of Refeeding Syndrome: - Little or no nutritional
Refeeding Syndrome ... • Incr Glucose Metabolism ... - Metabolic ... #diagnosis #pathophysiology ... #symptoms #signs
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology ... → Hypokalemia Metabolic ... #Pathophysiology ... #nephrology #diagnosis
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
BEE Syndromes - ... Visual or auditory symptoms ... conjunction with symptoms ... meningitis • Genetic ... #neurology #noninflammatory
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... • Central Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #orthopedics #neurology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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