Genetic Diagnosis of Cockayne Syndrome.

Researchers from the University of Strasbourg investigated whether defective transcription of ATF3 responsive genes is a marker for Cockayne Syndrome (CS).

Acute Flaccid Myelitis: A Single Pediatric Center Experience From 2014 to 2019.

BACKGROUND: Acute flaccid myelitis has emerged as the leading cause of acute flaccid paralysis in children. Acute flaccid myelitis leads to significant physical disability; hence, objective outcome measures to study disease severity and progression are desirable. In addition, nerve transfer to improve motor function in affected children needs further study. METHODS: Retrospective study of acute flaccid myelitis subjects managed at Children's Healthcare of Atlanta from August 2014 to December 2019. Clinical, electromyography and nerve conduction study, neuropsychological functional independence (WeeFIM), and nerve transfer data were reviewed. RESULTS: Fifteen children (11 boys and 4 girls) mean age 5.1±3.2 years (range 14 months to 12 years) were included. All subjects (n = 15) presented with severe asymmetric motor weakness and absent tendon reflexes. Motor nerve conduction study of the affected limbs in 93% (n = 14) showed absent or markedly reduced amplitude. Ten patients received comprehensive inpatient rehabilitation and neuropsychological evaluation. Admission and discharge WeeFIM scores showed deficits most consistent and pronounced in the domains of self-care and mobility. Multiple nerve transfer surgery was performed on 13 limbs (9 upper and 4 lower extremities) in 6 children. Postsurgery (mean duration of 10.4 ± 5.7 months) follow-up demonstrated improvement on active movement scale (AMS) in 4 subjects. CONCLUSION: Acute flaccid myelitis affects school-age children with asymmetric motor weakness, absent tendon reflexes, and reduced or absent motor amplitude on nerve conduction study. Comprehensive rehabilitation and nerve transfer led to improvement in motor function on neuropsychology WeeFIM and AMS scores.

Can urinary nitrites or other urinalysis findings be a predictor of bacterial resistance of uncomplicated urinary tract infections?

BACKGROUND AND OBJECTIVES: To evaluate whether initial urinalysis (UA) and urinary nitrite results can be used as a proxy for choosing empiric antibiotic therapy. MATERIALS AND METHODS: A retrospective study was conducted in an urban inner city community hospital in New York City (NYU Woodhull Medical Center). We reviewed the charts of patients seen in the Emergency Department and Pediatric Clinic who had a diagnosis of urinary tract infection (UTI) during a 3 year time period (January 2010-December 2012). Statistical analysis was performed using SPSS 20.0 statistical software. RESULTS: Between January 2010 and December 2012, a total of 378 patients had a diagnosis of UTI. Seventy-five (19.8%) were males and 203 (80.2%) were females. Of the 378 patients with a diagnosis of UTI, the most common isolated pathogen was Escherichia coli, which was detected in 283 (74.9%) isolates. Other bacteria included Klebsiella spp 30 (7.9%), Proteus 21 (5.6%), Enterococcus 14 (3.7%), and others 30 (7.9%). The resistance rate was higher in the nitrite positive group for the following antibiotics: TMP/SMX and ampicillin with or without sulbactam. No significant correlation was found with the remaining studied antibiotics. No significant correlation was found between leukoesterase and the resistance patterns in all of the studied antibiotics, except cefazolin. CONCLUSION: Urinary nitrite results are not helpful in choosing an initial antibiotic to treat a UTI. Leukocytosis in the blood or urine or the presence of a fever cannot be used to predict bacterial resistance. The use of nitrofurantoin or cephalexin for the treatment of cystitis was optimum, and in the presence of negative leukoesterase, nitrofurantoin was preferable to cephalexin.