20 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... (Clinical Dx). ... #diagnosis #management ... #signs #symptoms ... #rheumatology #
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
Clinical Presentation ... Fever is the main clinical ... 5000 to 10,000 ng/mL ... #Diagnosis #Management ... #Hematology #Rheumatology
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Cerebrovascular Disease ... , PRES Pathophysiology ... CNS #neurology #rheumatology
Hemophagocytic Lymphohistiocytosis (HLH)
Pathophysiology: Triggering factor (infection,...)→Activation of CD8 T cells (IFN-y) → Excessive activation of macrophages
Lymphohistiocytosis (HLH) Pathophysiology ... accumulation of clinical ... Assessment • Clinical ... Lymphohistiocytosis #diagnosis #management ... treatment #summary #rheumatology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... Anterior circulation: MCA ... #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... age, however the disease ... HLH signs and symptoms ... Lymphohistiocytosis #diagnosis #management
SLE (Systemic Lupus Erythematosus)

Suspect:
Clinical evidence of (fatigue, rash, photosensitivity, inflammatory arthritis, weight loss, and fever) and
) Suspect: Clinical ... Non-autoimmune rheumatologic ... Clinical Features ... Induced Lupus: • Symptoms ... La, anti-Jo-1, SCL
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Diagnosis and Management ... Pathophysiology ... Clinical Manifestations ... Anti-GAD Ab (>1000u/ml ... SPS #Diagnosis #Management