5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... 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 ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... - Reflexes: decreased ... • Bilateral signs ... Myelitis #diagnosis #management
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 ... - Fatigue and decreased ... neurology #diagnosis #management
Preoperative Risk Evaluation

Major Pre-Op Questions:
1. Does the patient have any modifiable risk factors that could be
event, follow ACC algorithm ... Cataract Plan for Meds ... are needed: • HgbA1c ... or death (CARP, DECREASE ... medical and surgical management