33 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms ... #diagnosis
Carcinoid Syndrome - Pathophysiology, Signs and Symptoms
Symptoms: Flushing, diarrhea, palpitations, bronchospasm
Complications: Carcinoid heart, mesenteric fibrosis, pellagra,
Carcinoid Syndrome ... - Pathophysiology ... , Signs and Symptoms ... bronchospasm Complications ... #Diagnosis
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
) An rare systemic ... Early diagnosis ... lethal cardiac complications ... Disease #Features #Signs ... #Peds #Pediatrics
Rheumatoid Arthritis Summary
MCP and PIP Involvement, Spares DIP, Carpal Tunnel, Sicca Syndrome, Epi/Scleritis, Heart Disease, Rheumatoid
Tunnel, Sicca Syndrome ... Disease and ILD Complications ... Arthritis #RA #diagnosis ... #rheumatology # ... signs #symptoms
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Systemic Lupus Erythematosus ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms ... #diagnosis
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
(PBC), or with systemic ... arthritis (RA) or systemic ... erythematosus (SLE) Signs ... #Pathophysiology ... #Diagnosis #Signs
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features of Systemic ... Demyelinating syndromes ... erythematosus #signs ... #symptoms #diagnosis ... #rheumatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics