101 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 ... #genetics #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
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... infection (PIMS-TS) Clinical ... #coronavirus #diagnosis ... #Signs #Symptoms
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Alzheimer's Disease ... Epidemiology • Pathophysiology ... Treatment • Clinical ... #Summary #diagnosis ... #management #geriatrics
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 ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Osteosarcoma 
Most common primary malignant bone tumor in children 
Most Common Sites of Involvement:
1. Distal femur
proximal femur Clinical ... injury • Systemic symptoms ... #Osteosarcoma #Diagnosis ... #Features #Oncology ... #Peds #Pediatrics
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
Pathogenesis and Clinical ... other autoimmune diseases ... #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Patellofemoral Syndrome - Pathogenesis and clinical findings
 • Anterior Knee Pain with possible symptoms of 'catching'
Patellofemoral Syndrome ... Pathogenesis and clinical ... #pathophysiology ... #diagnosis #signs ... #symptoms #msk
Cutaneous manifestations associated with myelodysplastic syndrome
 • Myeloid hemopathy with the most frequent skin lesions (20%)
myelodysplastic syndrome ... appearing during the disease ... #differential #diagnosis ... #dermatology #oncology ... #clinical #skin
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... in GBA1 gene Clinical ... #Diagnosis #Signs ... #Symptoms