12 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
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
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Orbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Chemosis: Edema of the bulbar conjunctiva
b. Panopthalmitis: inflammation of all
Afferent pupillary defect ... Orbital #Cellulitis #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
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 ... • Visual field defects ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
Attention Deficit Hyperactive Disorder (ADHD): Pathogenesis and clinical findings
 - For diagnosis, must have either 26
have either 26 symptoms ... level - ADHD affects ... BehavioralDisorder #Pathophysiology ... #signs #psychiatry ... #criteria
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... arthritis (especially knees ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
arrhythmias, congenital defects ... Occlusion #CRAO #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... preferentially affects ... Diagnostic Criteria ... • Bilateral signs ... and/or symptoms
Conduct Disorder (CD): Pathogenesis and clinical findings
 - Must have >3 symptoms present in the past
>18 years old, criteria ... disorder - CD affects ... BehavioralDisorder #Pathophysiology ... #signs #psychiatry ... #criteria