14 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
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... manifestations • Radiologic ... /Diagnostic findings ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Hirsutism & acne • Infertility ... endocrinology #peds ... #pediatrics
Causes of Neuromuscular Weakness
 • Spinal Cord: Demyelinating Disease (MS), Epidural abscess, Infarction, Syringomyelia, Tetanus, Transverse
Causes of Neuromuscular ... Demyelinating Disease (MS ... heavy metals), Critical ... Shellfish poisoning, Meds ... #differential #diagnosis
Pes Anserine Bursitis - MSK Radiology
Imaging Findings:
 • T2-hyperintense fluid-like signal along the medial aspect of
- MSK Radiology ... Case description ... #mri #clinical ... #Radiology #diagnosis ... #msk
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... Alzheimer's (99% of cases ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Haglund Syndrome - MSK Radiology
Imaging Findings:
 • The Haglund Deformity (enlarged superior margin calcaneal posterior process)
- MSK Radiology ... Case description ... #Heel #clinical ... #Radiology #diagnosis ... #msk
Posterior Ankle Impingement (Os Trigonum) Syndrome - MSK Radiology
Imaging Findings:
 • Os trigonum which has marrow
(Os Trigonum) Syndrome ... - MSK Radiology ... Case description ... #clinical #Radiology ... #diagnosis #msk
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... survival is 93-95% Pathophysiology ... renal failure Clinical ... symptoms are not caused ... anterior/posterior MSK