7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... /Symptoms: • GH ... acromegaly, widening of hands ... #FeedbackLoop #endocrinology ... #pathophysiology
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
Signs and symptoms ... objective evidence of neurologic ... Diplopia, Weakness, and ... taper 3-7 days - Short ... diagnosis #management #neurology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
: Pathogenesis and ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
clumsiness in hands ... Syndromes #diagnosis #pathophysiology ... #signs #symptoms ... #msk #orthopedics ... #neurology
Trendelenburg Gait: Pathogenesis and clinical findings

Skeletal Pathology of the Hip
 • Arthritis
 • Congenital hip dysplasia
Chondrodysplasia Neurologic ... Trendelenburg #Gait #pathophysiology ... #causes #symptoms ... #signs #diagnosis ... #msk
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
10-33% develop MS ... monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... diagnosis #management #neurology