39 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... pathophysiology #peds ... #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... Early diagnosis ... Features #Signs #Symptoms ... #Diagnosis #Peds ... #Pediatrics
Clinical Features and Complications of Measles

Rash:
Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... #Measles #Diagnosis ... Kopliks KoplikSpots #Peds ... #Pediatrics #Timeline ... #Signs #Symptoms
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
(Clinical Dx). ... Oral aphthae : SLE ... • Arthritis: SLE ... #diagnosis #management ... #signs #symptoms
Antinuclear Antibodies (ANA)
ANA or Anti-NucIear Antibody refers to antibodies against antigens in the nucleus → like
context of other symptoms ... likely it will be clinically ... ), Sjogren's Syndrome ... Arthritis, Sjögren Syndrome ... #rheumatology #diagnosis
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
Pathogenesis and Clinical ... erythematosus (SLE ... ) Signs / Symptoms ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... Demyelinating syndromes ... pain (20%) Renal disease ... erythematosus #signs #symptoms ... #diagnosis #rheumatology
Croup Diagnosis and Management Pearls
Common childhood illness, usually viral and self limiting. Characterised by a seal-like
Croup Diagnosis ... and Management Pearls ... intercostal recession, see-saw ... #Management #pediatrics ... #peds
Drug Induced Lupus vs SLE
Drug Induced Lupus (DIL):
 • Epidemiology: -10% of all lupus cases, drug-dependent,
to 1:1 F:M • Clinical ... Constitutional symptoms ... : Chronic disease ... #rheumatology #diagnosis ... #management
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... #diagnosis #signs ... #symptoms