17 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... pathophysiology #peds #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... lethal cardiac complications ... #Kawasaki #Disease ... Features #Signs #Symptoms ... Diagnosis #Peds #Pediatrics
Rheumatoid Arthritis Summary
MCP and PIP Involvement, Spares DIP, Carpal Tunnel, Sicca Syndrome, Epi/Scleritis, Heart Disease, Rheumatoid
Scleritis, Heart Disease ... Rheumatoid Nodules, Pulmonary ... Disease and ILD ... Complications: ... rheumatology #signs #symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... chromosome 21) Signs / Symptoms ... / Complications ... pathophysiology #geriatrics ... diagnosis #signs #symptoms
Gastroesophageal Reflux Disease (GERD) - Summary

GERD: Diagnosis
• Heartburn (substernal burning sensation) and acid regurgitation
• Chest pain
Extraesophageal
Gastroesophageal Reflux Disease ... Laryngeal and pulmonary ... GERD - Complications ... Extraesophageal complications ... Gastroesophageal #Reflux #Disease
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds #pediatrics
Tetralogy of Falot on Chest X-Ray
Tetralogy of Falot comprises four defects -
1. Ventricular septal defect (VSD)
2.
along with concave Pulmonary ... which is a common complication ... Cyanotc Heart Diseases ... radiology #peds #pediatrics
Neurological Manifestations of Tuberculosis
Spinal Arachnoiditis & Polyradiculopathy:
 • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
lesion Pott's Disease ... lymphadenopathy, pulmonary ... symptoms Intracranial ... • Usually is a complication ... Children with pulmonary
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... Connective tissue diseases ... , in advanced disease ... Complications ... • Pulmonary artery
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... Keratoconus Signs / Symptoms ... / Complications