7 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
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm
Central Nervous System - Decreased LOC, Axial
Differential Diagnosis Algorithm ... Nervous System - Decreased ... Syndromes - Spinal Cord ... • Central Core ... #Causes #Peds #
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
• Symptoms and signs ... injury • Gait is abnormal ... Cauda equina- decreased ... dysfunction • Abnormal ... differential #algorithm
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 ... Sjogren's • CSF: - Abnormal
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework

Heat Cramps:
 • Muscle pain or spasm -
Collapse: • Pathophysiology ... Volume depletion → Decreased ... → Syncope • Signs ... sweaty skin - Decreased ... temp normal/mildly
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
in innervation, genetics ... May arise from decreased ... illness, trauma, and cold ... Nail #Diseases #Abnormal ... Diagnosis #Clinical #Signs