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Objective To investigate the role of TNSALP gene detection in prenatal diagnosis of HPP. Method The clinical data and the results of complete exon sequencing of TNSALP gene in one neonate with low alkaline phosphatase (HPP) were analyzed retrospectively. Peripheral bloods from his family members were collected. The amniotic fluid cell in fetuses at 17 weeks was tested for candidate gene mutations by Sanger sequencing. Results Mainly manifestations in 6-day-old baby were multiple fractures, limb shortening and bending and dyspnea. He died of respiratory failure 9 days after birth. The serum alkaline phosphatase was decreased and serum calcium was decreased slightly; serum phosphorus, serum 25 hydroxyvitamin-D and parathyroid hormone were normal. X-ray showed that the whole body bone was very poorly mineralized, and the long diaphysis was enlarged with shape of a cup at the end and multiple fractures existed. Gene sequencing revealed a complex heterozygous missense mutation in the TNSALP gene, including the heterozygous missense mutation c.542C>T in exon sixth causing 181st amino acids changed from serine to leucine (p.S181L), and tenth exon heterozygous missense mutation in c.1016G>A causing 339th amino acid changed from glycine to glutamic acid (p.G339E). The parental phenotypes were normal. The c.542C>T mutation is inherited from his father and the c.1016G>A mutation is inherited from his mother. These two mutations were not detected in the fetus. Conclusion TNSALP gene analysis can be applied to the diagnosis and prenatal diagnosis of HPP.
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Objective: To study the therapeutic effect of hyaluronic acid chitosan?based microemulsion ( HAC?ME) and carboplatin in a Wistar rat model bearing cerebral C6 glioma xenografts. Methods:C6 rat glioma cells were cultured normally. A total of 30 Wistar rats bearing orthotopic C6 glioma xenografts were randomly divided into 3 groups, and administrated with physiological saline, carbopl?atin or HAC?ME and carboplatin in each group. There are 10 rats in each group. The rat apoptosis changes and survival time were ob?served after treated with physiological saline, carboplatin or HAC?ME and carboplatin in each group. Results:Glioma cells were nega?tive in saline group with TUNEL staining, the nuclei of individual glioma cells in glioma tissue were stained with brown, indicating ap?optosis occur in carboplatin group, the apoptosis of glioma cells in glioma tissue significantly increased in HAC?ME and carboplatin group with TUNEL staining. The survival time in HAC?ME and carboplatin group was longer than that in saline group and carboplatin group ( P<0?05) . Conclusion:Administration of HAC?ME and carboplatin can suppress the growth of C6 glioma in rats and may pro?vide experimental basis for clinical treatment of glioma.
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Objective To observe the differences in the therapeutic efficacies of macrolides,minocycline,and tosufloxacin against macrolide-resistant Mycoplasma pneumoniae(MRMP).Methods A total of 188 children with M.pneumoniae pneumonia confirmed by culture and PCR were analyzed.Of these,150 patients had a strain with an MR gene and 134 had one with an A-to-G mutation at position 2063 of M.pneumoniae 23S rRNA domain V.Azithromycin(n=27),clarithromycin(n=23),tosufloxacin(n=62),or minocycline(n=38)was used for definitive treatment of patients with MR M.pneumoniae.Among the 188 patients,the other 38 patients with macrolide-sensitive Mycoplasma pneumonia (MSMP)were grouped into azithromycin(n =16)and clarithromycin groups(n =22)for observing whether there is differences with respect to efficacy under parallel treatment between patients with MRMP and MSMP. Results Defervescence within 48 h after the initiation of antibiotic therapy was observed in 41%of the patients in the azithromycin group,48% of those in the clarithromycin group,69% of those in the tosufloxacin group,and 87% of those in the minocycline group.The average number of days of fever after the administration of antibiotic treatment was lower in the minocycline and tosufloxacin groups than in the macrolide groups(azithromycin and clarithromycin groups).The decrease in the M.pneumoniae burden,as estimated by the number of DNA copies,after 48 to 96 h of treatment was more rapid in patients receiving minocycline(P=0.016)than in those receiving tosufloxacin(P=0.049),azithromycin(P=0.273),or clarithromycin(P=0.107).Conclusion We found that the clinical and bacteriological efficacies of macrolides against MR M.pneumoniae pneumonia was low.Our results indicated that minocycline rather than tosufloxacin can be considered the first-choice drug for the treatment of M.pneumoniae pneumonia in children aged >8 years.
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Objective To explore the possible risk factors that influence bone mineral density (BMD) in elderly men with type 2 diabetes. Methods A total of 80 elderly men with type 2 diabetes were included in this study. The BMD of lumbar vertebrae and femur were measured by dual-energy X-ray absorptiometry (DXA). And fasting blood and urine samples were taken to check the biochemical levels of bone metabolism and blood glucose. The correlations between BMD and other related factors were analyzed. Results In this group, the prevalence rates of osteoporosis and osteopenia were 18. 6% and 53.8%, respectively. Body mass and body mass index (BMI) were positively correlated with BMD at all sites (r=0. 202～0. 298, P<0. 05 or P<0. 01). However, age and glycosylated hemoglobin (HbAlc) were negatively correlated with BMD of lumbar and femoral neck (r=-0. 172～-0. 211 ,all P<0. 05). Leptin was not only positively correlated with the BMD of femoral neck and Ward's triangle, but also with body mass, BMI, fasting blood glucose (FBG), total cholesterol and HbAlc (r=0. 219 ～ 0. 509, P<0.05 or P<0.01). Using stepwise regression analysis, body mass was the predictor of BMD at all sites assessed, while the HbAlc and leptin levels could respectively influence BMD at femoral neck and Ward's triangle (r~2= 0. 196 ～ 0. 276, all P< 0. 01). Conclusions It may suggest that differential factors predict the variance of BMD at different sites in elderly men with type 2 diabetes.