19 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
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
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... of Systemic Lupus ... Demyelinating syndromes ... signs #symptoms #diagnosis ... #rheumatology
Antinuclear Antibodies (ANA)
ANA or Anti-NucIear Antibody refers to antibodies against antigens in the nucleus → like
likely it will be clinically ... SLE), Sjogren's Syndrome ... Arthritis, Sjögren Syndrome ... ANA #patterns #rheumatology ... #diagnosis #differential
Antinuclear antibodies and Systemic lupus
Anti-dsDNA	60-80%	Association with disease activity (when with Farr assay) and lupus nephritis. Can
Farr assay) and lupus ... -15% If SLE is clinically ... SLE-SSc-AlM overlap syndromes ... erythematosus #diagnosis ... #rheumatology #
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
Primary Sjogren’s Syndrome ... Pathogenesis and Clinical ... RA) or systemic lupus ... #Pathophysiology ... #Diagnosis #Signs
SLE (Systemic Lupus Erythematosus)

Suspect:
Clinical evidence of (fatigue, rash, photosensitivity, inflammatory arthritis, weight loss, and fever) and
) Suspect: Clinical ... Differential Diagnosis ... Non-autoimmune rheumatologic ... Clinical Features ... #Rheumatology
Monoclonal Gammopathy of Clinical Significance (MGUS) - Differential Diagnosis

Neurologic-Centered:
 (+) Systemic Features: POEMS, AL amyloid, Cryoglobulinemia
Gammopathy of Clinical ... - Differential Diagnosis ... capillary leak syndrome ... • Schnitzler syndrome ... #hematology #oncology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... Differentiation #Syndrome ... #management #hematology ... #oncology
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
capillary leak syndrome ... to cold IgG • Lupus ... Paraproteinemias #Hematology ... #Differential #Diagnosis ... #Oncology