112 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Clinical Manifestations of Systemic Lupus Erythematosus (SLE)

#Systemic #Lupus #Erythematosus #SLE #Manifestations #Signs #Symptoms #Rheumatology #Diagnosis
Clinical Manifestations ... of Systemic Lupus ... ) #Systemic #Lupus ... Signs #Symptoms #Rheumatology ... #Diagnosis
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Disease, PRES Pathophysiology ... permeability Diagnosis ... CNS #neurology #rheumatology
ANA Patterns and Associated Rheumatic Diseases:
 • Homogeneous: Systemic lupus erythematosus (SLE), Mixed connective tissue disease
Homogeneous: Systemic lupus ... , Drug-induced Lupus ... SLE), Sjogren's Syndrome ... ANA #patterns #rheumatology ... #diagnosis #differential
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Systemic Lupus Erythematosus ... - Budd Chiari Syndrome ... #Systemic #Lupus ... Complications #pathophysiology ... signs #symptoms #diagnosis
Autoantibodies in Rheumatology
 • Lupus (SLE): ANA (anti-nuclear antibody), dsDNA (double-stranded DNA), Anti-Smith, Anti-Ro (SSA) and
Autoantibodies in Rheumatology ... • Lupus (SLE): ... glycoprotein I (ß2GP), Lupus ... LAC) • Sjogren Syndrome ... #diagnosis #associations
SLICC SLE Diagnostic Criteria - Systemic Lupus Erythematosus
Clinical and Immunologic Criteria

CLINICAL CRITERIA
 - ACUTE CUTANEOUS LUPUS
SLICC SLE Diagnostic ... Erythematosus Clinical ... Immunologic Criteria CLINICAL ... hemolytic anemia #Diagnosis ... #Rheumatology #
Systemic Lupus Erythematosus - Summary
Antinuclear (ANA) - 95% - Initial screening test
Anti-dsDNA - 50%
 • Associated
Systemic Lupus Erythematosus ... block • Sjogren syndrome ... #Systemic #Lupus ... #SLE #Summary #diagnosis ... #rheumatology #
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics
Pancytopenia - Differential Diagnosis

Congenital Diseases:
• GATA2 deficiency
• Fanconi’s anemia
• Wiskott-Aldrich syndrome
• Ribosomopathy or telomeropathy

Cancer:
• Leukemia
• Lymphoma

Inflammatory
- Differential Diagnosis ... Wiskott-Aldrich syndrome ... Diseases: • Systemic lupus ... #Differential #Diagnosis ... #Hematology