77 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... 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
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: 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
Multi-System Inflammatory Syndrome in Children (MIS-C) vs. Kawasaki Disease
CDC Case Definition for MIS-C;
 • < 21
Kawasaki Disease ... CDC Case Definition ... MISC #Kawasaki #Comparison ... #diagnosis #peds ... #pediatrics #COVID19
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 ... / Symptoms: - ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Rapid, increasing signs of extrapyramidal symptoms (EPS) is an important key feature of NMS. EPS, associated
Rapid, increasing signs ... extrapyramidal symptoms ... about 95% of NMS cases ... #Diagnosis #Serotonin ... NeurolepticMalignant #Comparison
Cold Urticaria
Prevalence - 0.05% in the population
Disease onset - Mostly 2nd to 4th decades of life
Causes
decades of life Causes ... and clinical associations ... and duration of symptoms ... angioedema Other symptoms ... #rheumatology #comparison
Portal Hypertension - Differential Diagnosis
Portal Pressure = the pressure difference between the pressure in the portal
- Differential Diagnosis ... >10 mmHg - clinically ... and hepatorenal syndrome ... • Budd Chiari syndrome ... Veno-occlusive disease
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... involvement: Intractable nausea ... Manifestations #diagnosis ... #neurology #symptoms ... #signs