30 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Acute Kidney Injury - AKI Workup Algorithm and Differential Diagnosis
Baseline Investigations: full blood count with differential,
Injury - AKI Workup Algorithm ... and Differential Diagnosis ... investigations depending on clinical ... Glomerulonephritis / Vasculits ... #AKI #Workup #Algorithm
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
IgA Vasculitis – ... Pathogenesis and Clinical ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Polyarteritis Nodosa (PAN): Pathogenesis and Clinical Findings

Medical Comorbidities Malignancies (most commonly hairy-cell leukemia)
Immunogenetic Predisposition: patient is
Pathogenesis and Clinical ... PolyarteritisNodosa #Pathophysiology ... #Diagnosis #Signs ... #Symptoms #Vasculitis
Aphasia - Pathophysiology and Clinical Findings
Broca's Aphasia - Expressive language impairment: non-Fluent
 - Sensory speech areas
Aphasia - Pathophysiology ... and Clinical Findings ... #diagnosis #signs ... #symptoms #Brocas ... #Wernickes #neurology
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... skin injury) • Neurologic ... meningitis), MCC CNS symptoms ... Behcet syndrome (Clinical ... management #signs #symptoms
Scurvy (Vitamin C Deficiency) - Diagnosis and Management

Vitamin C is required for hydroxylation of proline residues
Deficiency) - Diagnosis ... poor nutrition Clinical ... musculoskeletal symptoms ... Psychiatric symptoms ... #Nutrition #Diagnosis
Dermatomyositis (DM) and Polymyositis (PM): Pathogenesis and clinical findings
Elevated Antinuclear Antibodies: Anti-Jo-1, Anti-OJ, Anti-Mi2, Anti-SRP, Anti-EJ,
Pathogenesis and clinical ... Polymyositis #PM #Diagnosis ... #Pathophysiology ... #Signs #Symptoms ... #Vasculitis