31 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
Kawasaki Disease ... Early diagnosis ... Features #Signs #Symptoms ... #Diagnosis #Peds ... #Pediatrics
Cold Agglutinin Disease

3 Types of Cold Sensitive Antibodies:
  1. Cold Agglutinins (CAD)
  2. Donath-Landsteiner
Cold Agglutinin Syndrome ... Viral Infection Clinical ... of anemia include ... anemia • Cold ... #hematology #diagnosis
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

**
Clinical features ... of Liver Disease ... LiverFailure #Signs #Symptoms ... #Peds #Pediatrics ... #Hepatology
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Constitutional Syndromes ... Clinical Presentation ... • Improve the symptoms ... #oncology #hematology ... #diagnosis #management
Chronic Lymphocytic Leukemia (CLL) - Summary
Overview: 
 • Most common leukemia in adults
 • Disorder of
minimal tumor burden Diagnosis ... immunophenotype Clinical ... chemotherapy for low-risk disease ... marrow failure with anemia ... #hemeonc #diagnosis
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
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
late adulthood • Diagnosis ... to 8 years Clinical ... autoimmune hemolytic anemia ... : • Nephrotic syndrome ... (Epstein-Barr syndrome
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... Demyelinating syndromes ... pain (20%) Renal disease ... ) Blood (75%): Anemia ... #diagnosis #rheumatology