[Urine collection and pain in pediatric emergency departments]. / Recueil urinaire et douleur aux urgences pédiatriques.

In cases of suspected urinary infection when babies are admitted to emergency departments, a cyto-bacteriological urine test is necessary. Collection bags are associated with a high risk of "false positives" while catheterisation is an invasive technique. Nursing teams in the paediatric emergency departments of Limoges and Poissy general hospitals carried out a study to assess the benefits of both methods, the feasibility of catheterisation in children under 3 months and the pain this procedure causes. They also examined the children's, nurses' and parents' own experiences of the treatment.

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.

Histone deacetylase 4 (HDAC4) serves important roles in multiple human systems, including neurological, cardiac, and skeletal functions. Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. Cytogenetic testing showed a cryptic balanced translocation in the mother that resulted in a 2q37.1 monosomy and a 10q26.1 trisomy in the son. Gene expression analyses demonstrated 67% HDAC4 expression in the mother and 23% HDAC4 expression in the son relative to normal controls, lending evidence to the hypothesis that HDAC4 modulates severity of this disorder in a dosage-dependent manner.

Moving from bag to catheter for urine collection in non-toilet-trained children suspected of having urinary tract infection: a paired comparison of urine cultures.

OBJECTIVE: To compare, in the same children, urine culture results from bag- versus catheter-obtained specimens with catheter culture as the reference. STUDY DESIGN: A total of 192 non-toilet-trained children <3 years of age from 2 emergency departments were recruited for this prospective cross-sectional study. All had positive urinalysis results from bag-obtained specimens that were systematically checked with a catheter-obtained specimen before treatment. Results of comparison of urine cultures obtained with these 2 collecting methods are presented. RESULTS: A total of 7.5% of bag-obtained specimen positive cultures had false-positive results. Twenty-nine percent of bag-obtained specimen cultures with negative results were false negative. Altogether, bag-obtained specimens led to either a misdiagnosis or an impossible diagnosis in 40% of cases versus 5.7% when urethral catheterization was used. CONCLUSION: Every bag-obtained positive-result urinalysis should be confirmed with a more reliable method before therapy.