9 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
Osteosarcoma 
Most common primary malignant bone tumor in children 
Most Common Sites of Involvement:
1. Distal femur
proximal femur Clinical ... injury • Systemic symptoms ... #Osteosarcoma #Diagnosis ... #Features #Oncology ... #Peds #Pediatrics
Monoclonal Gammopathy of Clinical Significance (MGUS) - Differential Diagnosis

Neurologic-Centered:
 (+) Systemic Features: POEMS, AL amyloid, Cryoglobulinemia
Gammopathy of Clinical ... - Differential Diagnosis ... Neurologic-Centered ... capillary leak syndrome ... #hematology #oncology
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... skin injury) • Neurologic ... (Clinical Dx). ... #signs #symptoms ... #rheumatology #
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
et diutinum Neurologic ... Thrombosis in vascular beds-renal ... Paraproteinemias #Hematology ... #Differential #Diagnosis ... #Oncology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... may precede the neurologic ... Neurological symptoms ... Seizures: Treat with AEDs ... #neurology
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 ... • Improve the symptoms ... Aplastic #Anemia #oncology ... #hematology #diagnosis
Chronic Lymphocytic Leukemia - Summary

Cancer affecting lymphocytes/Mature B cell neoplasm
 • Lymphocytes accumulate in large numbers
Orange or Hep C Clinical ... with no early symptoms ... • Richter’s Syndrome ... #workup #oncology ... #hematology
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Helpful Clinical ... Marfan syndrome, ... Disorders #History #peds ... #pediatrics #diagnosis ... #hematology #primarycare