24 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
Multi-System Inflammatory Syndrome in Children (MIS-C) vs. Kawasaki Disease
CDC Case Definition for MIS-C;
 • < 21
Multi-System Inflammatory Syndrome ... Kawasaki Disease ... MISC #Kawasaki #Comparison ... #diagnosis #peds ... #pediatrics #COVID19
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
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Congenital Heart Disease ... Metabolism • Reye's Syndrome ... Neuromuscular • Disorders ... Algorithm #Causes #Peds ... #Pediatrics
Cold Agglutinin Disease

3 Types of Cold Sensitive Antibodies:
  1. Cold Agglutinins (CAD)
  2. Donath-Landsteiner
lymphoproliferative disorder ... Cold Agglutinin Syndrome ... infection, autoimmune disorder ... Viral Infection Clinical ... Monoclonal IgM Includes Disorders
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... (AQP4-lgG disease ... Comorbid autoimmune disorders ... Manifestations #diagnosis ... #neurology #symptoms
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
Cardiomyopathy - Diagnosis ... and Causes Clinical ... ↑ "Right Sided-Symptoms ... Hyper-eosinophilc Syndrome ... Sarcomeric Protein Disorders
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
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 ... Lymphoproliferative Disorders ... #rheumatology #diagnosis
SLE (Systemic Lupus Erythematosus)

Suspect:
Clinical evidence of (fatigue, rash, photosensitivity, inflammatory arthritis, weight loss, and fever) and
) Suspect: Clinical ... Differential Diagnosis ... Clinical Features ... Induced Lupus: • Symptoms ... Erythematosus #Diagnosis