7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... Incr Skeletal fractures ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Ankylosing Spondylitis: Pathogenesis and Clinical findings
 • Pain in lumbar area and gluteal region: (Dull, insidious
lordosis, Incr thoracic ... bamboo spine) -> Fracture ... AnkylosingSpondylitis #pathophysiology ... #diagnosis #signs
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
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... and with limb features ... EMG: LMN Signs in ... , cervical and thoracic
Anorexia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: concordance
Gender: F > M • Genetics ... athletics) #AnorexiaNervosa ... #pathophysiology ... #diagnosis #signs
Anorexia Nervosa: Signs and Symptoms
Binge/Purge Subtype - Recurrent (once per week) episodes of binge-eating or purging,
Anorexia Nervosa: Signs ... psychological/behavioral features ... irritability #AnorexiaNervosa ... #pathophysiology ... #diagnosis #signs
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
increased risk of fracture ... warmth) GENERAL FEATURES ... binge-purge subtype #AnorexiaNervosa ... Complications #pathophysiology ... #diagnosis #signs