10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Loss of parental copy ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... palliation • Post-Op ... Management • Outcomes ... cardiology #peds #pediatrics
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... • Triggers: Diuretics ... : • Pathophysiology ... into serum • Triggers ... TLS #diagnosis #management
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... : Unknown trigger ... Females SIGNS/SYMPTOMS ... • Symptoms: Cough ... Pneumonia #diagnosis #management
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Diagnosis and Management ... Pathophysiology ... tendency to fall • Triggers ... • Normal ESR, CRP ... SPS #Diagnosis #Management
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... the study) • Triggers ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... APML #diagnosis #management
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... anterior/posterior MSK ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... Beckwith Wiedemann syndrome ... adjuvant Tx, or post-op ... #Endocrinology ... #Treatment #Pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... hyperinflammatory syndrome ... patients with the HLH syndrome ... Common Signs and Symptoms ... Pathophysiology
TAFRO

TAFRO syndrome was first described in 2010, standing for:
- Thrombocytopenia
- Anasarca
- Fever
- Reticulin fibrosis
- Organomegaly

TAFRO syndrome
TAFRO TAFRO syndrome ... cell lymphoma Pathophysiology ... and the systemic symptoms ... levels - Increased CRP ... TAFRO #diagnosis #management