Maple syrup urine disease and gene mutations in twin neonates / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD.</p><p><b>METHODS</b>The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed.</p><p><b>RESULTS</b>Two mutations were detected in the BCKDHB gene, missense mutation c.304G>A (p.Gly102Arg) and nonsense mutation c.331C>T (p.Arg111*), and both of them were heterozygotes. The mutation c.304G>A (p.Gly102Arg) had not been reported in the world. Their father carried the missense mutation c.304G>A (p.Gly102Arg), and their mother carried the nonsense mutation c.331C>T (p.Arg111*).</p><p><b>CONCLUSIONS</b>The c.331C>T (p.Arg111*) heterozygous mutation in BCKDHB gene is the pathogenic mutation in these twin neonates and provides a genetic and molecular basis for the clinical features of children with MSUD.</p>

Influence of Massage on Gastrointestinal Motility of Premature Infants / 实用儿科临床杂志

Objective To explore the influence of massage on gastrointestinal motility in premature infants.Methods Fifty-eight premature infants from NICU of the affiliated hospital of Jining medical college were randomly divided into massage group(28 cases) and control group(30 cases).They were all received usual care.The infants in massage group were subjected to caresses touches twice(5-20 min/time)every day.The time of meconium and charcoal being excreted were recorded.Blood samples were collected on day 2,7 after birth.Motolin and gastrin were determined by radioimmunassays.Results The time of meconium and charcoal being excreted in massage group was(78.78?41.16) h and(21.48?9.85) h,respectively.Those in control group were(101.84?32.84) h and(34.66?13.20) h,respectively,there were significant differences between massage group and control group(P0.05).The blood concentrations of motilin and gastrin on day 7 in massage group were(402.35?40.14) ?g/L and (133.60?25.99) ?g/L, respectively,those were(315.84?37.62) ?g/L and (80.22?33.50) ?g/L in control group,respectively,there were significant differences in the blood concentrations of motilin and gastrin between 2 groups(Pa