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
Signs/Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology
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
Pathogenesis of Anxiety Disorders

Anxiety Disorders: A maladaptive emotional state causing fear,
worry, and excessive stress, characterized by:
reporting rates) • Genetics ... Anxiety #Disorders #Pathophysiology ... #diagnosis #psychiatry
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Signs / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Signs / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Diabetic Retinopathy: Pathogenesis and clinical findings

Mild Non-proliferative DR
 • Outpouchings of the weakened capillary walls or
Retinopathy #Diabetes #ophthalmology ... #diagnosis #complications ... #pathophysiology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Major Depressive Disorder: Complications
 • Recurrent Depressive Episodes
 • Early parenthood
 • Social isolation and interpersonal
Depressive Disorder: Complications ... MajorDepressiveDisorder #Complications ... #Pathophysiology ... #Psychiatry
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
#Retinopathy #pathophysiology ... #ophthalmology ... signs #symptoms #complications