10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... 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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs / Symptoms ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Eye rubbing • Atopic ... 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
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
clumping around atrophic ... #Retinopathy #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms ... #complications
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 ... endocrinology #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
Retinopathy of Prematurity: Pathogenesis and clinical findings
Increased metabolic demand of growing eye
-> Excessive VEGF production ->
-> Neovascular complications ... Prematurity #peds #pediatrics ... #pathophysiology ... #ophthalmology
Alcohol Withdrawal: Clinical Findings and Complications
The onset of alcohol withdrawal generally begins 6-24 hours after the
Clinical Findings and Complications ... last drink with symptoms ... Symptoms typically ... • Generalized Tonic-Clonic ... Alcohol #Withdrawal #Pathophysiology