12 results
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
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
Migraine Treatment Overview

 • What is a Migraine?
 • Pathophysiology
 • Common Migraine Triggers
 • Diagnosis
Pathophysiology ... Bulbital-containing meds ... Treatment #management #pharmacology ... #prophylaxis #neurology
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
mainly AQP4-lgG disease ... mainly MOG-lgG disease ... pain • Extra-CNS complications ... Manifestations #diagnosis #neurology ... #symptoms #signs
Neurological Manifestations of Tuberculosis
Spinal Arachnoiditis & Polyradiculopathy:
 • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
lesion Pott's Disease ... Worsening of previous neurologic ... symptoms, fever ... • Usually is a complication ... differential #TB #neurology
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... and less common diseases ... meningitis • Genetic ... BEE #Syndromes #neurology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
: • Triad of symptoms ... urine • Other symptoms ... HAGMA • Late complication ... of underlying disease ... causes #treatment #nephrology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... diagnosis #management #neurology
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... Presentation: - Disease ... course of the disease ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology