Application of Network Management System of Preterm Infant / 中国康复理论与实践

@#ObjectiveTo explore the role of Network Management System (NMS) in decreasing mortality and incidence of cerebral palsy in preterm infants.MethodsThe data of 356 preterm infants transported by NMS from January 2004 to December 2005 were analyzed.ResultsNo death cases occurred during the transportation of 356 preterm infants, the success rate was 100%. 292 cases (84.39%) were cured and 36 cases (10.4%) were effective. 7 case dead for compliance, the mortality was 19.6‰. 3 cases suffered from cerebral palsy , the incidence of cerebral palsy was 8.6‰.ConclusionNMS applied to preterm infants is a high-effective medical model, and plays an important role in improving the forward prognosis of preterm infants.

Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the clinical features and to identify homeobox D13 (HOXD13) gene mutation of the affected individuals in a Chinese synpolydactyly (SPD) kindred.</p><p><b>METHODS</b>Clinical data and peripheral blood samples of SPD family members were obtained through field investigation. For every member of this pedigreeìthe fragment containing mutational hot spots of HOXD13 was amplified by PCR for mutation screening. To examine whether there is any other mutation within coding sequence of HOXD13, exon 1 and exon 2 of HOXD13 were also amplified by PCR. All the amplified fragments were electrophoresed on 2% agarose gels and then the mutant fragments were electrophoresed on 5% polyacrylamide gels to be separated. Purified PCR products of normal and selected mutant alleles were directly sequenced.</p><p><b>RESULTS</b>Comparing the HOXD13 coding sequence of the affected individuals with HOXD13 sequence in the GenBank and with that of the unaffected, an inserted segment coding 8 alanine residues within HOXD13 was found segregating with the disorder. This mutation is also termed polyalanine expansion. The 8-alanine expansion can be interpreted as a reduplication of normal alanines 5-12.</p><p><b>CONCLUSION</b>The results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13.</p>

A case-control study on the risk factor of perinatals' congenital malformations in seven cities of Guangxi / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the possible risk factors of congenital malformations in cities of Guangxi.</p><p><b>METHODS</b>A case-control study was carried out on 281 cases of congenital malformations and 730 controls. Analysis of simple factor and multiple factors unconditional logistic regression were done.</p><p><b>RESULTS</b>The analysis of simple factor and multiple factors showed that main risk factors of congenital malformations as multiple pregnancies (OR = 2.6), pregnancy complications (OR = 3.2), exposure to chemical substances before or during pregnancy (OR = 3.0), taking sedatives (OR = 10.2), hormone drug (OR = 9.4) or Chinese herbal medicines (OR = 2.5) during the early stage of pregnancy, mothers' blood type as AB (OR = 3.5) or A (OR = 2.2), mothers' emotion being nervous and melancholy (OR = 2.6), mothers' occupation being workers (OR = 3.8) or peasants (OR = 3.0), fathers' exposure to noise (OR = 5.7) or suffering from chronic diseases (OR = 2.8).</p><p><b>CONCLUSIONS</b>Some risk factors were identified as having important effect on perinatal congenital malformations, including taking sedatives, hormone drug or Chinese herbal medicines during the early stage of pregnancy, mothers' emotion being nervous and melancholy, multiple pregnancies, pregnancy complications, exposure to chemical substances before or during pregnancies, mothers' blood type as AB or A, mothers' occupation being workers or peasants, fathers' exposure to noise or suffering from chronic diseases.</p>