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 ... #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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
/ Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms ... / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
lights are a key symptom ... damage & blindness Signs ... / Symptoms / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
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 ... #diagnosis #signs ... #symptoms #complications
Mixed Urinary Incontinence: Pathogenesis and Clinical Findings

Urgency Urinary Incontinence (UUI) -> Urinary leakage preceded by a
Incr PVR if a complication ... Incontinence #Mixed #Pathophysiology ... #Signs #Symptoms ... #Urology #Diagnosis