11 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
acute febrile vasculitic ... syndrome. ... Early diagnosis ... Disease #Features #Signs ... #Peds #Pediatrics
Diagnosis of IgA Vasculitis (Henoch-Schönlein Purpura) - French Vasculitis Study Group 

1) Suggestive clinical manifestations
Diagnosis of IgA ... 1) Suggestive clinical ... individuals - Clinical ... #Rheumatology # ... 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 #
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... Butterfly rash, Vasculitis ... erythematosus #signs ... #symptoms #diagnosis ... #rheumatology
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
myasthenia Diagnosis ... test - Cogan sign ... - Peek sign ... Myasthenia #Gravis #diagnosis ... #management #neurology
Giant cell arteritis (GCA)

Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
Diagnosis = clinical ... systemic sx + signs ... = vasculitis vs ... them, but urgent rheumatology ... #Management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... : HLH signs and ... #management #treatment ... #hematology
Sjogren's Syndrome Overview

Epidemiology:
• F > M: 9:1
• 5-6th Decades (can be any age)

Autoimmune exocrinopathy multisystemic disease
salivary ducts Clinical ... ) • Cutaneous vasculitis ... : 2% Systemic Vasculitis ... #Rheumatology # ... Diagnosis #Management
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Helpful Clinical ... Marfan syndrome, ... Disorders #History #peds ... #pediatrics #diagnosis ... #hematology #primarycare