42 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
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... (Clinical Dx). ... #diagnosis #management ... #signs #symptoms ... #rheumatology #
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 ... SLE), Sjogren's Syndrome ... ANA #patterns #rheumatology ... #diagnosis #differential
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
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
Macrophage Activation Syndrome ... Clinical Presentation ... Fever is the main clinical ... #Diagnosis #Management ... #Hematology #Rheumatology
Cold Agglutinin Disease

3 Types of Cold Sensitive Antibodies:
  1. Cold Agglutinins (CAD)
  2. Donath-Landsteiner
Cold Agglutinin Syndrome ... Viral Infection Clinical ... (Cold-induced symptoms ... hemolytic #anemia #hematology ... #diagnosis
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
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
to 8 years Clinical ... and M panel Management ... : • Nephrotic syndrome ... (Epstein-Barr syndrome ... #diagnosis #management
Susac Syndrome - Clinical Triad
 - Central nervous system dysfunction
 - Branch retinal artery occlusion
 -
Susac Syndrome - ... Clinical Triad ... - Recurrent disease ... SusacSyndrome #Triad #Diagnosis ... #Management #Rheumatology