6 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
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
The Neurological Evaluation of a Comatose Patient

Definition:
 • Coma: a state of unresponsiveness; the absence of
• Mutism Pathophysiology ... • Examine for signs ... Arms extended; wrists ... from the body; wrists ... #PhysicalExam #neurology
Anorexia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: concordance
Gender: F > M • Genetics ... having a small waist ... athletics) #AnorexiaNervosa ... #pathophysiology ... #diagnosis #signs
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... binge-purge subtype #AnorexiaNervosa ... Complications #pathophysiology ... #diagnosis #signs
Bulimia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: Some
Gender: F > M • Genetics ... having a small waist ... BulimiaNervosa #pathophysiology ... #diagnosis #signs