8 results
diagnosis management pediatrics peds 21hydroxylasedeficiency 21ohd endocrinology erythematosus hematology hemophagocytic henochscholeinpurpura hlh hsp iga keratoconus lymphohistiocytosis ophthalmology praderwilli primary sarcoidosis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings • Primary Sjögren's is a solitary process whereas secondary Sjögren's
Pathogenesis and Clinical ... RA) or systemic lupus ... / Symptoms: - ... #Pathophysiology ... #Symptoms
Clinical Features of Systemic Lupus (SLE) General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%) Eye: Sjögrens (15%) Skin
Clinical Features ... Demyelinating syndromes ... erythematosus #signs ... #symptoms #diagnosis ... #rheumatology
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... Ehlers-Danlos syndrome ... / Symptoms / Complications ... #Keratoconus #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... an underlying genetic ... Diagnosis: HLH signs ... and symptoms can
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... #Diagnosis #Signs ... #Symptoms
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... skin (16-32%): lupus ... Diagnosis #Management #Signs ... #Symptoms
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