The Calgary Guide to Understanding Disease @TheCalgaryGuide
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diagnosis pediatrics signs retinopathy 21hydroxylasedeficiency 21ohd acute benzodiazepine bzd chronic closedangle endocrinology glaucoma hypertensive keratoconus nightmares otitismedia parasomnias praderwilli prematurity
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms
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 ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
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
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
lights are a key symptom ... blindness Signs / Symptoms ... / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
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
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
-> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
Benzodiazepine (BZD) withdrawal: clinical findings and complications • Activation of ACC and OFC -> Feelings of
clinical findings and complications ... BZD #withdrawal #pharmacology ... #pathophysiology ... diagnosis #signs #symptoms
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings Parasomnias - Micro-arousal episodes during SWS -> Intense activation of
Nightmares #Pediatrics #Peds ... #pathophysiology ... #symptoms #pharmacology
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