18 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
Lewy Body Dementia: Pathogenesis and Clinical Findings
Lewy Body Dementia is a sub-category of major or mild
Pathogenesis and Clinical ... Clinical manifestations ... (required for diagnosis ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... workup 1) Clinical ... diagnosis Cognitive ... Aphaso-apraxo-agnosia syndrome ... #Geriatrics #Workup
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
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 #
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
disease • Systemic lupus ... Clinical Presentation ... SJIA], systemic lupus ... #Diagnosis #Management ... #Hematology #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