24 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Loss of parental copy ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #PraderWilli #Syndrome
Cold Agglutinin Disease

3 Types of Cold Sensitive Antibodies:
  1. Cold Agglutinins (CAD)
  2. Donath-Landsteiner
Agglutinin Syndrome ... Viral Infection Clinical ... Circulatory Symptoms ... symptoms - most ... hemolytic #anemia #hematology
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
Behçet's Syndrome ... occlusion, Budd-Chiari syndrome ... tests in Behcet syndrome ... adenopathy (PFAPA) syndrome ... hyperimmunoglobulin D syndrome
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... Imaging: CXR- pulmonary ... Diagnosis: >3 symptoms ... Differentiation #Syndrome ... diagnosis #management #hematology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
renal failure Clinical ... post-sarcoidosis fatigue syndrome ... Specific sarcoidosis syndromes ... ) • Löfgren syndrome ... • Heerfordt syndrome
Aplastic Anemia - Overview

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

What?
• Aplastic anemia
Constitutional Syndromes ... Aplastic Anemia Clinical ... Constitutional Syndromes ... marrow-failure syndromes ... myelodysplastic syndrome
Cryofibrinogenemia Summary

Cryofibrinogenemia Epidemiology:
 • 40-70 years with a modest female predominance

Cryofibrinogenemia:
 • The precipitation of a
Cryofibrinogenemia Symptoms ... thrombophlebitis, pulmonary ... Diagnosis: • + Clinical ... Antiphospholipid syndrome ... #hematology
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... obstruction • COPD ... • Mounier-Kuhn syndrome ... dyskinesia • Young syndrome ... mycobacteria Treatment
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
Risk factors: Critical ... ARDS to explain symptoms ... , and CXR with pulmonary ... Transfusion #Reactions #hematology ... diagnosis #comparison #table
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
- Compartment syndrome ... Neuroleptic malignant syndrome ... Dermatomyositis Clinical ... : • Triad of symptoms ... or compartment syndrome