16 results
diagnosis management pediatrics differential symptoms endocrinology neurology physicalexam treatment 21hydroxylasedeficiency 21ohd abnormal algorithm atlas beaus cardiology causes classification clinical cop
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 ... management #cardiology #peds
CREST Syndrome: Pathogenesis and Clinical Findings CALCINOSIS (BB-sized, hard nodules in fingers) RAYNAUD'S Phenomenon ESOPHAGEAL DYSMOTILITY SCLERODACTYLY (thickening and tightening
CREST Syndrome: ... In face, hands distal ... MTPs) #CREST #Syndrome ... #Pathophysiology ... #Diagnosis #Signs
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Mechanical (e.g. dental ... Algorithm #Causes #Peds
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Headache • Decr visual ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology
Management of Serotonin Syndrome Identify and stop all serotoninergic medications • Avoid inadvertent Rx of serotoninergic meds
Management of Serotonin Syndrome ... serotoninergic meds ... goal to normalize vital ... signs • Supplemental ... ucsdim #Serotonin #Syndrome
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... Leukostasis: • Pathophysiology ... dizziness, tinnitus, visual ... WBC >100k, + lab signs ... : • Pathophysiology
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
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
Aphaso-apraxo-agnosia syndrome ... body dementia - Visual ... (parkinsonian signs ... hyperorality, - 25% genetic
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