Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH).</p><p><b>METHODS</b>Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH.</p><p><b>RESULTS</b>All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3.</p><p><b>CONCLUSIONS</b>The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.</p>

Factors influencing the bone mineral density in preterm infants / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the bone mineral development and the factors influencing the development in preterm infants.</p><p><b>METHODS</b>Ninety preterm and 90 term infants followed up by the child health care service were randomly enrolled. Tibia quantitative ultrasound measurements were used to evaluate bone mineral density described as supersonic speed of sound (SOS) and Z scores at 6 months old (corrected gestational age for preterm infants). The factors influencing bone mineral development were investigated by questionnaire.</p><p><b>RESULTS</b>The SOS values and Z scores in term infants were significantly higher than those in preterm infants at 6 months old. In the preterm group, the SOS values and Z scores were significantly different in infants with different birth weights or gestational ages (P<0.05). The SOS values in preterm infants with different weaning time were significantly different. The Z scores in female preterm infants were significantly higher than that in males (P<0.05). Multiple regression analysis indicated that weaning time and daily time of outdoor activities were independent factors influencing SOS values in preterm infants.</p><p><b>CONCLUSIONS</b>It is helpful to promote bone mineral development by an appropriate weaning time or increasing the time of outdoor activities in preterm infants.</p>

Meta analysis of lactic acid bacteria as probiotics for the primary prevention of infantile eczema / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To determine whether lactic acid bacteria as probiotics is efficacious in the primary prevention of infantile eczema or atopic eczema.</p><p><b>METHODS</b>For this meta analysis of randomized controlled trials (RCT) describing the efficacy of probiotics in infants with eczema or atopic eczema at ages of ≤2 years, a comprehensive search in the databases was performed up to January 2010. Three reviewers independently evaluated the studies for methodological qualities. RevMan 5.0.2 software was used for meta analysis.</p><p><b>RESULTS</b>Twelve RCTs on the preventive effects of lactic acid bacteria as probiotics on infantile eczema were included, and 7 of the 12 RCTs reported the preventive effect of lactic acid bacteria on atopic eczema. The meta analysis showed that there was an overall significant reduction in infantile eczema and atopic eczema favoring lactic acid bacteria compared with placebo. The relative risk (RR) ratios for eczema and atopic eczema were 0.80 (95%CI: 0.70-0.90; P<0.01) and 0.78 (95%CI: 0.64-0.97; P<0.01), respectively. Lactic acid bacteria combined with other probiotics decreased significantly the incidence of eczema, with a RR ratio of 0.79 (95%CI: 0.68-0.93; P<0.01). The use of lactic acid bacteria alone did not result in a reduction in the incidence of eczema, with a RR ratio of 0.85 (95%CI: 0.69-1.05; P>0.05).</p><p><b>CONCLUSIONS</b>The data from this meta analysis suggest that lactic acid probiotics combined with other probiotics play a role in the prevention of infantile eczema. There is insufficient evidence to recommend single use of lactic acid bacteria for prevention of eczema. Further studies are required to determine whether the findings are reproducible.</p>