48 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... delayed puberty -> Infertility ... #peds #pediatrics
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Alzheimer's Disease ... • Pathophysiology ... Treatment • Clinical ... #Summary #diagnosis ... #management #geriatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... Early diagnosis ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... management #cardiology #peds ... #pediatrics #summary
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Pott's Disease in ... and Management Summary ... extrapulmonary cases Clinical ... Signs/Symptoms: ... decreased reflexes Pathophysiology
Clinical Features and Complications of Measles

Rash:
Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... #Measles #Diagnosis ... Kopliks KoplikSpots #Peds ... #Pediatrics #Timeline ... #Signs #Symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... endocrinology #peds ... #pediatrics
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... in GBA1 gene Clinical ... #Diagnosis #Signs ... #Symptoms
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
Graves’ Disease: ... Pathogenesis and Clinical ... the etiology Signs ... GravesDisease #pathophysiology ... #signs #diagnosis