9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Outcomes by Cara ... cardiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Trendelenburg Gait: Pathogenesis and clinical findings

Skeletal Pathology of the Hip
 • Arthritis
 • Congenital hip dysplasia
in the Spinal canal ... Trendelenburg #Gait #pathophysiology ... causes #symptoms #signs ... #diagnosis #msk
Scoliosis: Pathogenesis and clinical findings (Cobb Angle > 10 Degrees)

 • Incr Axial rotation of thoracic
intervertebral canal ... #Scoliosis #pathophysiology ... #msk #diagnosis ... #signs #symptoms
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs ... #psychiatry
Anorexia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: concordance
Gender: F > M • Genetics ... AnorexiaNervosa #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry
Paget’s Disease: Complications
Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation

MSK
bone formation MSK ... the vertebral canal ... PagetsDisease #pathophysiology ... #diagnosis #signs
Bulimia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: Some
Gender: F > M • Genetics ... BulimiaNervosa #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry