8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... sleep apnea, cor pulmonale ... pathophysiology #peds ... #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Total Anomalous Pulmonary ... PVO Present • Diagnosis ... Classic “snowman sign ... #management #cardiology ... #peds #pediatrics
Paradoxical Breathing on Physical Exam

Paradoxical breathing is often a sign of breathing problems. It causes the
breathing is often a sign ... #respiratory #clinical ... #video #pulmonary ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
and workup ... 1) Clinical diagnosis ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Diagnosis #Geriatrics
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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Giant A waves caused by pulmonary HTN. There are two clearly discernible descents (X and Y)
waves caused by pulmonary ... has Kussmaul's sign ... the underlying diagnosis ... #PhysicalExam #Clinical ... #Video #Cardiology
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
cardiomyopathy • Pulmonary ... Genetic predisposition ... Clinical • Under-recognized ... support for patients clinically ... teratogenic GDMT meds
Compressed Airway in Tracheomalacia on Laryngoscopy

Compressed airway - asphyxiation. One of the cause is from external
the child was diagnosed ... investigations and work ... #bronchoscopy #clinical ... #video #otolaryngology ... #pediatrics #pulmonary