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diagnosis treatment differential signs genetics hematology neurology nutrition rhabdomyolysis 21hydroxylasedeficiency 21ohd acromegaly acronym adrenal alzheimersdisease barre cardiology dementia diet encephalopathy
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #PraderWilli #Syndrome ... #peds #pediatrics
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... overload) Other Symptoms ... Epilepsy • Fanconi syndrome ... • Nephrotic syndrome ... #Refeeding #Syndrome
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
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... high WBC count cause ... hyperviscosity syndrome ... rasburicase Tumor Lysis Syndrome ... #Tumor #Lysis #Syndrome
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
are not caused ... post-sarcoidosis fatigue syndrome ... Specific sarcoidosis syndromes ... ) • Löfgren syndrome ... • Heerfordt syndrome
Rhabdomyolysis - Differential Diagnosis and Management Summary Trauma: • Immobilization, Crush iniury, Compartment syndrome, Electrical injury Exertional: •
iniury, Compartment syndrome ... Neuroleptic malignant syndrome ... Dermatomyositis) AKI - Pathophysiology ... Shift of extracellular ... #Summary #causes
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary Causes of Rhabdomyolysis: • Trauma: - Immobilization - Crush injury - Compartment
Summary Causes ... - Compartment syndrome ... Neuroleptic malignant syndrome ... or compartment syndrome ... Shift of extracellular
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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