9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... , sleep apnea, cor ... pulmonale #PraderWilli
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Acute Spinal Cord ... findings • Anterior Cord ... Syndrome ->Cord ... • Posterior Cord ... #signs #symptoms
Neurological Manifestations of Tuberculosis
Spinal Arachnoiditis & Polyradiculopathy:
 • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
meninges in spinal cord ... nerve roots Spinal Cord ... lymphadenopathy, pulmonary ... • Usually is a complication ... Children with pulmonary
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... diagnosis #management #neurology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... obstruction • COPD ... Nasal polyps and signs ... Physical stigmata of cor ... disease Complications
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology
Paget’s Disease: Complications
Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation

MSK
Paget’s Disease: Complications ... or the spinal cord ... PagetsDisease #pathophysiology ... #diagnosis #signs ... #symptoms #complications
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... Hypothermia and Cold ... #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry