11 results
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Presenilin 1 and 2 ... chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #symptoms
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
tortuosity Stage 2: ... #Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
- 2/3 both bacterial ... resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
out of cells may cause ... 1) +++ fluids. 2) ... Signs/Symptoms/Complications ... Abdominal pain, nausea ... DiabeticKetoacidosis #DKA #pathophysiology
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
• Significant cause ... damage & blindness Signs ... / Symptoms / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
Giant cell arteritis (GCA)

Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
and ophthalmic complications ... systemic sx + signs ... required +/- prompt ophthalmology ... GCA #Temporal #Signs ... #Symptoms #Diagnosis
Alcohol Withdrawal: Clinical Findings and Complications
The onset of alcohol withdrawal generally begins 6-24 hours after the
Clinical Findings and Complications ... concurrent illness, >2 ... drink and lasts 2- ... Alcohol #Withdrawal #Pathophysiology ... #Diagnosis #Signs