The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics
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
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms ... / Complications ... #Macroadenoma #SideEffects ... #endocrinology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... / Symptoms / Complications ... Ring • Munson's sign ... • Rizutti's Sign
Kawasaki Disease: Clinical Findings
Diagnostic Criteria - Fever and 4/5 of the following:
 • Conjunctivitis
 • Polymorphous
Findings Diagnostic Criteria ... hands & feet Signs ... /Symptoms/Complications ... Pathophysiology #Signs ... #Symptoms #Vasculitis
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Signs/Symptoms/Complications ... pathophysiology #endocrinology