8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi 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
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... have fever - ACS ... WBC >100k, + lab signs ... Lysis Syndrome: • Pathophysiology ... TLS #diagnosis #management
Emphysematous Cystitis
Epidemiology:
 • Usually middle-aged diabetic women
 • Other RF: neurogenic bladder, urinary tract outlet obstruction,
compromise Clinical Signs ... /Symptoms: • Usually ... be present or signs ... Pathophysiology: ... KUB or abdominal ultrasound
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... anterior/posterior MSK ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
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 ... Myelitis #diagnosis #management
Gout - Diagnosis and Management Summary

3 Conditions for Gout to Manifest:
1. Hyperuricemia
2. Monosodium urate deposition in
Diagnosis and Management ... not possible • Ultrasound ... double contour sign ... Dual-energy CT → MSU ... +Radiographic signs
Continuous Positive Airway Pressure in the Neonate

WHY CPAP? 
• Maintain airway patency 
• Helps avoid alveoli
and fit of the mask ... auscultate for signs ... CPAP #Neonate #Management ... #ABCs #ABCDE #Peds ... #Pediatrics