11 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Incr Skeletal fractures ... #genetics #pathophysiology ... #peds #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Mucocutaneous Lymph Node Syndrome ... febrile vasculitic syndrome ... Kawasaki #Disease #Features ... #Signs #Symptoms ... #Diagnosis #Peds
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... stabilization of fractures ... Pathophysiology ... Fat #Embolism #Syndrome ... #Diagnosis #Signs
Ankylosing Spondylitis: Pathogenesis and Clinical findings
 • Pain in lumbar area and gluteal region: (Dull, insidious
lordosis, Incr thoracic ... bamboo spine) -> Fracture ... AnkylosingSpondylitis #pathophysiology ... #diagnosis #signs
Supracondylar Elbow Fracture
• Most common elbow fracture in children, peak age 5-7 
• When looking at
Supracondylar Elbow Fracture ... radiocapitellar lines), fat pads ... anterior sail sign ... can't make A-OK sign ... ), compartment syndrome
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Acne • Coarse features ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... : • Pathophysiology ... worrisome EKG features
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... and with limb features ... EMG: LMN Signs in ... , cervical and thoracic
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... failure Clinical Features ... Specific sarcoidosis syndromes ... • Heerfordt syndrome ... Diagnosis #Management #Signs
Compartment Syndrome Pearls
A vicious cycle of increased pressure within a facial compartment leading to compression of
Compartment Syndrome ... Pathophysiology: ... rest are late signs ... absence of other signs ... constrictive • Reduce fracture