CJCP
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2016 Vol.  18 No.  6
Published: 2016-06-15

CLINICAL RESEARCH
EXPERIMENTAL RESEARCH
CLINICAL EXPERIENCE
REVIEW
CLINICAL RESEARCH
471 MA Li, WEN Xiao-Hong, YANG Hai-Bo, HUANG Jin-Hua, CHEN Nan
Influencing factors for brain injury in preterm infants

Objective To investigate the incidence of different types of brain injury in preterm infants and their influencing factors. Methods The clinical data and head magnetic resonance imaging (MRI) findings of 239 preterm infants were collected, and the influence of antepartum, intrapartum, and postpartum factors on brain injury in preterm infants was analyzed. Results The incidence rate of brain injury in preterm infants was 25.5%; among these infants, 10.5% had hemorrhagic brain injury, 10.5% had ischemic brain injury, and 4.6% and hemorrhagic and ischemic brain injury. The infants with a lower gestational age had higher incidence rates of hemorrhagic brain injury and overall brain injury (P < 0.01). The incidence rates of ischemic brain injury and hemorrhagic and ischemic brain injury were not correlated with gestational age (P > 0.05). The incidence rates of hemorrhagic, ischemic, and overall brain injury were not correlated with birth weight (P > 0.05). Multiparity (OR = 0.292, 95%CI 0.088-0.972) and cesarean section (OR = 0.075, 95%CI 0.015-0.368) were protective factors against brain injury in infants with a gestational age of <34 weeks; cesarean section (OR = 0.296, 95%CI 0.131-0.672) was the protective factor against brain injury in infants with a gestational age of ≥34 weeks, and severe infection (OR = 8.176, 95%CI 1.202-55.617) was the risk factor. Conclusions In order to prevent or reduce the occurrence of brain injury in preterm infants. the gestational age of preterm infants should be prolonged as much as possible and the indications for cesarean section should be grasped. Infections should be prevented and if occurring should be treated actively and effectively.

2016 Vol. 18 (6): 471-475 [Abstract] ( 3986 ) [HTML 1KB] [PDF 1138KB] ( 834 )
476 LI Bing-Xiao, LIU Guo-Sheng, LING Xue-Ying, CHEN Han-Fang, LUO Xian-Qiong
Evaluation of white matter myelination in preterm infants using DTI and MRI

Objective To investigate the features of white matter myelin development in preterm infants using magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Methods A total of 31 preterm infants with a gestational age of ≤32 weeks and a birth weight of <1 500 g were enrolled. According to head MRI findings, these infants were divided into preterm group with brain injury (12 infants) and preterm group without brain injury (19 infants). A total of 24 full-term infants were enrolled as control group. Head MRI and DTI were performed at a gestational age or corrected gestational age of 37-40 weeks. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were measured for the same regions of interest in the three groups. Results The preterm group with brain injury showed a significantly lower FA value of the posterior limb of the internal capsule than the preterm group without brain injury and full-term control group (P < 0.05). The preterm groups with and without brain injury showed significantly lower FA values of frontal white matter and lenticular nucleus than the full-term control group (P < 0.05). The FA value of occipital white matter showed no significant differences among the three groups (P > 0.05). Compared with the full-term control group, the preterm groups with and without brain injury showed significantly higher ADC values of the posterior limb of the internal capsule, lenticular nucleus, occipital white matter, and frontal white matter (P < 0.05). Conclusions After brain injury, preterm infants tend to develop disorder or delay of white matter myelination in the posterior limb of the internal capsule. At a corrected full-term gestational age, the preterm infants with and without brain injury have a lower grade of maturity in periventricular white matter and grey matter than full-term infants.

2016 Vol. 18 (6): 476-481 [Abstract] ( 4162 ) [HTML 1KB] [PDF 1129KB] ( 1077 )
482 DENG Ying, XIONG Fei, WU Meng-Meng, YANG Fan
A follow-up on first-year growth and development of 61 very low birth weight preterm infants
Objective To investigate the physical growth and psychomotor development of very low birth weight (VLBW) preterm infants in the first year after birth and related influencing factors. Methods A total of 61 VLBW preterm infants received growth and development monitoring for 12 months. Z score was used to evaluate parameters for physical growth, and Denver Development Screen Test (DDST) was used for development screening. Results Among the 61 VLBW preterm infants, 27 (44.3%) were small-for-gestational-age (SGA) infants, and 34 (55.7%) were appropriate-for-gestational-age (AGA) infants. During the 1-year follow-up, the median weight-for-age Z-score (WAZ), height-for-age Z-score (HAZ), head circumference-for-age Z-score (HCZ), and weight-for-height Z score (WHZ) were >-1 SD in all age groups. The peaks of body mass index-for-age Z-score (BAZ) and WHZ appeared at 1 month of corrected age. At a corrected age of 40 weeks, the incidence rates of underweight, growth retardation, emaciation, microcephalus, overweight, and obesity were 15%, 16%, 11%, 13%, 20%, and 10%, respectively. Compared with those with a corrected age of 40 weeks, the infants with a corrected age of 6 months or 9-12 months had a significantly reduced incidence rate of overweight (3%) (P < 0.05). Up to 1 year after birth, 15 infants (25%) had abnormal developmental quotient (DQ). The SGA group had a significantly higher incidence rate of abnormal DQ than the AGA group (P<0.05). SGA was the independent risk factor for retarded growth in the first year after birth in VLBW preterm infants.Conclusions VLBW preterm infants experience an obvious growth deviation within 3 months of corrected age. Within the first year after birth, the proportion of infants with abnormal DQ screened by DDST is high.
2016 Vol. 18 (6): 482-487 [Abstract] ( 4006 ) [HTML 1KB] [PDF 1189KB] ( 1121 )
488 KANG Wen-Qing, XU Bang-Li, LIU Da-Peng, ZHANG Yao-Dong, GUO Jing, LI Zhao-Hui, ZHOU Yan-Juan, XIONG Hong
Efficacy of heated humidified high-flow nasal cannula in preterm infants aged less than 32 weeks after ventilator weaning

Objective To investigate the efficacy of heated humidified high-flow nasal cannula (HHHFNC) and nasal continuous positive airway pressure (nCPAP) in preterm infants aged 26-31+6 weeks with respiratory distress syndrome after ventilator weaning. Methods A total of 161 preterm infants were randomly divided into two groups after ventilator weaning: HHHFNC treatment (n = 79) and nCPAP treatment (n = 82). The two groups were subdivided into 26-28+6 weeks and 29-31+6 weeks groups according to the gestational age. The treatment failure rate, reintubation rate within 7 days after extubation, incidence of complications, and mortality during hospitalization were compared between the two groups. Results The treatment failure rate and reintubation rate showed no significant differences between the HHHFNC and nCPAP groups. The preterm infants aged 26-28+6 weeks in the HHHFNC group had a significantly higher treatment failure rate than those in the nCPAP group (P < 0.05), while the reintubation rate showed no significant difference. As for the preterm infants aged 29-31+6 weeks, the treatment failure rate and reintubation rate showed no significant differences between the two groups. The incidence of complications and mortality showed no significant differences between the HHHFNC and nCPAP groups. Conclusions In preterm infants aged 29-31+6 weeks, HHHFNC has a similar efficacy as nCPAP after ventilator weaning, while in those aged less than 29 weeks, HHHFNC should be used with great caution if selected as the first-line noninvasive respiratory support.

2016 Vol. 18 (6): 488-491 [Abstract] ( 3993 ) [HTML 1KB] [PDF 1103KB] ( 1297 )
492 WANG Xian, ZHU Tian-Jiao, WAN Zhi-Ting, ZHU Xue-Mei
Association between glutamate receptor 2 polymorphisms and epilepsy in children
Objective To investigate the association between two single nucleotide polymorphisms (SNPs), rs9390754 and rs4840200, in the glutamate receptor 2 (GRIK2) gene and the genetic susceptibility to epilepsy (EP) in the Han population in Central China. Methods A case-control study was performed in 284 EP children (including 132 children with refractory epilepsy) and 315 normal children from Central China. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the genotypes of the two SNPs rs9390754 and rs4840200. The genotype frequency was compared between groups. Results The frequencies of GG, GA, and AA genotypes of SNP rs9390754 showed a significant difference between the EP and normal control groups (P = 0.016). The allele frequency also showed a significant difference between the two groups (P = 0.002). The frequencies of CC, CT, and TT genotypes of SNP rs4840200 and allele frequency showed no significant differences between the two groups. The C allele frequency of SNP rs4840200 in the refractory EP subgroup was significantly higher than in the non-refractory EP subgroup (OR = 1.435, 95% CI: 1.021-2.016, P = 0.037). Conclusions In the Han population in Central China, the polymorphisms of SNP rs9390754 in the GRIK2 gene may be associated with EP susceptibility, and the C allele of SNP rs4840200 may be a genetic risk factor for the development of drug resistance in children with EP.
2016 Vol. 18 (6): 492-495 [Abstract] ( 3437 ) [HTML 1KB] [PDF 1117KB] ( 692 )
496 SHEN Hui-Juan, CHEN Lin, ZHAO Fang-Qiao, JIANG Kai-Hua, DONG Xuan
Event-related potential and behavioral characteristics in children with attention deficit hyperactivity disorder of different school entrance ages: a comparative study
Objective To evaluate the effects of school entrance age on cognition and behaviors in children with attention deficit hyperactivity disorder (ADHD) using mathematical event-related potential (ERP), behavioral test, and Conners Parent Symptom Questionnaire (PSQ). Methods Fifty-eight ADHD children aged 7-12 years were enrolled and classified into older age and younger age groups according to the school entrance age (n = 29 each). The children in the older age group were admitted at an age of 6 years and 6 months to 6 years and 11 months, and those in the younger age group were admitted at an age of 6 years to 6 years and 5 months. The ERP with a mathematical task was used to detect the difference in brain electrical activity between the two groups, and the behavioral test results were compared. The children's parents were asked to complete the PSQ, and the scores on each subscale were compared. Results The ERP detection showed that the older age group had a significantly higher P2 amplitude for wrong answers than the younger age group (10.9±5.0 μv vs 8.5±3.6 μv; P < 0.05). The younger age group had a significantly shorter time of response to wrong answers than the older age group (619±340 ms vs 870±418 ms; P < 0.05). The scores on the subscales of learning problems and impulse-hyperactivity of PSQ were significantly higher in the younger age group than in the older age group (P < 0.05). Conclusions School entrance age can affect cognition and behaviors in children with ADHD, and the ADHD children with a younger school entrance age have an obvious defect in executive function, especially the function of error detection, which leads to the prominent problems in impulse-hyperactivity and learning.
2016 Vol. 18 (6): 496-500 [Abstract] ( 3710 ) [HTML 1KB] [PDF 1214KB] ( 681 )
501 LI Yu-Ling, Enherbayaer, GUAN Hong-Yan
Effects of rs4274224 polymorphisms in the DRD2 gene and family factors on the regularity based on the temperament in school-age children

Objective To study the effects of rs4274224 polymorphisms in the DRD2 gene, family factors and their interaction on the regularity in school-age children. Methods The rs4274224 polymorphisms were genotyped using Sequenom Mass Array. The regularity was assessed based on the Middle Childhood Temperament Questionnaire (MCTQ). The parental rearing pattern was assessed with Egna Minnen av Bardnodnauppforstran (EMBU). The family function was assessed using Family Cohesion and Adaptability Scale (FACES II-CV). Results The regularity score in children with AA genotype of rs4274224 in the DRD2 gene was signifificantly lower than in those with GA/GG genotype (2.9±0.6 vs 3.1±0.7; P < 0.05). The results of multiple regression analysis showed that the regularity was related to child gender, father's education level and family adaptability. The results of logistic regression analysis showed that the main factors influencing the regularity were family adaptability and its interaction with rs4274224 polymorphisms. The regularity was better in children with high family adaptability than in those with low family adaptability (OR = 0.112, P < 0.01). The children with AA genotype and low family adaptability were tend to be associated with low regularity (OR = 21.554, P < 0.01). Conclusions The regularity based the temperament for school-age children might be influenced by family adaptability and its interaction with rs4274224 polymorphisms.

2016 Vol. 18 (6): 501-505 [Abstract] ( 3624 ) [HTML 1KB] [PDF 1248KB] ( 727 )
506 YAN Hai-Peng, LU Xiu-Lan, QIU Jun, LIU Ping-Ping, ZUO Chao, ZHU Yi-Min
Value of blood lactic acid in evaluating disease severity and prognosis in children with sepsis
Objective To investigate the value of blood lactic acid (BLA) in evaluating disease severity and prognosis in children with sepsis. Methods A total of 484 children with sepsis were enrolled and divided into common sepsis group (n = 310), severe sepsis group (n = 105), and septic shock group (n = 69). BLA level was measured before treatment, and the results of BLA re-examination after early fluid resuscitation were collected for children with septic shock and a BLA level of >2 mmol/L. Results The BLA level increased with the increasing severity of sepsis. The analysis of the receiver operating characteristic curve showed that the cut-off value of BLA for the diagnosis of septic shock was 2.25 mmol/L, with a sensitivity of 82.6% and a specificity of 79.8%. The fatality rates in the BLA ≤1 mmol/L, BLA 1.1-2 mmol/L, BLA 2.1-4 mmol/L, and BLA >4 mmol/L groups were 8.5%, 9.4%, 27.2%, and 67.6%, respectively, and the risk of death in the BLA >4 mmol/L group was 22.4 times that in the BLA ≤1 mmol/L group. In children with septic shock who had a BLA level of >2 mmol/L before treatment and whose BLA levels were ≤2 mmol/L or >2 mmol/L after resuscitation, the fatality rates were 33.3% and 69.2%, respectively. Conclusions BLA can be used to evaluate disease severity and prognosis in children with sepsis, and a BLA level of 2.25 mmol/L has a high value in diagnosing septic shock. Early resuscitation helps BLA level return to normal and can improve the prognosis of children with septic shock.
2016 Vol. 18 (6): 506-510 [Abstract] ( 4452 ) [HTML 1KB] [PDF 1255KB] ( 906 )
511 XU Luo-Jia, CHEN Jie
Efficacy of nutrition support therapy in children with chronic diarrhea

Objective To investigate the efficacy of nutrition support therapy in children with chronic diarrhea. Methods A retrospective analysis was performed for the clinical data of 48 children with chronic diarrhea who were hospitalized between July 2012 and July 2014. These children were divided into <1 year group (27 children) and ≥1 year group (21 children). Twenty-seven of these patients, who had malnutrition, were divided into enteral nutrition (EN) group (10 children), partial parenteral nutrition (PPN)+EN group (16 children), and total parenteral nutrition (TPN) group (1 child). The therapeutic process and outcome were compared between different age groups and children receiving different treatments. Results Among the 48 children, short bowel syndrome, viral enteritis, a history of intestinal surgery, and malabsorption syndrome were common causes of chronic diarrhea, and 24 children (50%) had unknown causes. In the aspect of nutritional assessment on admission, the <1 year group had a significantly higher proportion of children with moderate underweight than the ≥1 year group (P < 0.05). In the EN group, the BMI-for-age Z-score (BAZ) increased from -2.2±1.5 before treatment to -1.8±1.0 (P = 0.040), and the energy supplied increased from 46±17 kcal/kg per day before treatment to 83±32 kcal/kg per day (P = 0.012). In the PPN+EN group, the weight-for-age Z-score (WAZ) increased from -3.3±2.0 before treatment to -2.8±1.8 (P = 0.044), and BAZ increased from -2.8±1.4 before treatment to -2.0±1.4 (P = 0.012). There was only 1 child in the TPN group, whose symptoms of diarrhea were relieved after treatment. Among 27 children receiving nutritional therapy, 4 were not improved, and the other children achieved remission of symptoms and improvements in nutritional status. Conclusions Besides etiological treatment, nutrition support therapy can be applied as part of multimodality therapy in children with chronic diarrhea. This can effectively improve nutritional status and relieve the symptoms of diarrhea.

2016 Vol. 18 (6): 511-516 [Abstract] ( 4465 ) [HTML 1KB] [PDF 1295KB] ( 1000 )
517 HU Hong-Wei, DUAN Jiang, ZHAO Bo, XIONG Jing-Jing, LIU Mei, CUI Jing-Jing, JI Xiao-Fei, ZHANG Ting-Ting, ZHANG Li-Zhi, HUANG Yong-Kun
Significance of detection of biomarker fecal bile acids in the diagnosis and treatment of childhood Henoch-Schönlein purpura

Objective To investigate the changes and clinical significance of biomarker fecal bile acids (BA) in children with Henoch-Schönlein purpura (HSP). Methods Nineteen children with HSP and twenty-seven healthy children were enrolled in this study. The stool samples were obtained at the acute and remission phases. Fecal BA levels were measured by high performance liquid chromatography mass spectrometry (HPLC-MS). Results The fecal cholic acid level in the HSP remission group was significantly higher than in the HSP acute group and the healthy control group (P < 0.016). The fecal chenodeoxycholic acid level in the HSP remission group was significantly higher than in the healthy control group (P < 0.016). The levels of fecal secondary colonic bile acids, deoxycholic acid and lithocholic acid, in the HSP acute and remission groups were significantly lower than in the healthy control group(P < 0.05, P < 0.016 respectively). No significant differences were found in the levels of fecal urosodeoxycholic acid among the three groups (P > 0.05). Conclusions Fecal secondary colonic bile acids, deoxycholic acid and lithocholic acid, are in decrease in children with HSP at the acute stage, which may be involved in the pathogenesis and treatment outcomes of HSP.

2016 Vol. 18 (6): 517-521 [Abstract] ( 3697 ) [HTML 1KB] [PDF 1215KB] ( 752 )
522 ZHAO Jian-Mei, WANG Qian
Role of triggering receptor expressed on myeloid cells-1 in the pathogenesis of Kawasaki disease

Objective To study the role of triggering receptor expressed on myeloid cells-1(TREM-1) in the pathogenesis of Kawasaki disease (KD). Methods Based on color Doppler examination results, 45 children with KD were classified into two groups: coronary artery lesions (CAL group) and no coronary artery lesions (NCAL group). Fifteen children with fever caused by respiratory infection (fever control group) and fifteen healthy children (normal control group) served as controls. Real-time fluorescence quantitative PCR was used to detect the expression of TREM-1 mRNA and DNAX-activating protein 12 (DAP12) mRNA in peripheral blood mononuclear cells (PBMC). ELISA was used to detect the expression of soluble triggering receptor expressed on myeloid cells-1 (sTREM-1), DAP12, monocyte chemoattractant protein-1(MCP-1), interleukin-8 (IL-8) proteins levels. Results The mean serum protein concentrations of sTREM-1 and DAP12 and the expression levels of TREM-1 mRNA and DAP12 mRNA in PBMC in 45 children with KD (KD group) were significantly higher than in the two control groups (P < 0.05). The levels of sTREM-1 protein and TREM-1 mRNA in the CAL subgroup were significantly higher than in the NCAL subgroup (P < 0.05). The serum protein concentrations of MCP-1 and IL-8 in the KD group were significantly higher than in the two control groups (P < 0.05). The MCP-1 protein level in the CAL subgroup was significantly higher than in the NCAL subgroup (P < 0.05). In children with KD, there was a positive correlation between serum sTREM-1 and MCP-1 levels (r = 0.523, P < 0.05). Conclusions TREM-1 activation may be involved in the development of KD.

2016 Vol. 18 (6): 522-526 [Abstract] ( 3169 ) [HTML 1KB] [PDF 1321KB] ( 775 )
527 LI Jing, WANG Bo-Long, FENG Rui-Bing, LI Guo-Dong
Efficacy of glucocorticoids combined with immunoglobulin in initial treatment of Kawasaki disease: a Meta analysis

Objective To systematically investigate the efficacy and safety of glucocorticoids (GCs) combined with intravenous injection of immunoglobulin (IVIG) in the initial treatment of Kawasaki disease (KD). Methods MEDLINE Database, PubMed Database, CNKI, Wanfang Data, and VIP Database were searched to collect prospective or retrospective controlled studies on the combination of GCs and IVIG as the initial treatment of KD, which were published up to March 2016. Two investigators independently screened the literature, extracted data, and assessed the quality of the articles included. Then, a Meta analysis was performed using RevMan 5.2 software. Results A total of 11 articles in English were included, with 7 prospective studies and 4 retrospective studies. The results of the Meta analysis showed that compared with the group using IVIG alone, the combination group had a significantly lower incidence rate of coronary artery lesion (CAL) (OR = 0.44, 95%CI 0.23-0.86, P = 0.02) and a significantly shorter duration of fever (MD = -1.66, 95%CI -2.32 to -1.01, P < 0.00001). The combination group had a significantly lower rate of no response to initial treatment than the IVIG alone group (OR = 0.37, 95%CI 0.27-0.51, P < 0.00001). The recurrence rate of KD and the incidence rate of adverse events showed no significant differences between the two groups. Conclusions GCs combined with IVIG as the initial treatment for KD can reduce the incidence rate of CAL and the rate of no response to initial treatment and shorten the duration of fever, and does not increase the recurrence rate of KD and the incidence rate of adverse events.

2016 Vol. 18 (6): 527-533 [Abstract] ( 4035 ) [HTML 1KB] [PDF 1593KB] ( 836 )
534 CHEN Shao-Lin, Harrison Denise, HUANG Rui-Rui, ZHANG Qing, XIE Ri-Hua, WEN Shi-Wu
Efficacy of sweet solutions in relieving pain caused by vaccination in infants aged 1 to 12 months: a systematic review

Objective To investigate the efficacy of oral sweet solutions in relieving pain caused by vaccination in infants aged 1 to 12 months. Methods Related databases were searched to find related randomized control trails (RCTs). The quality of these RCTs was evaluated. The Meta analysis was performed using RevMan 5.3. Results A total of 20 RCTs involving 2 376 infants were included, and quality assessment showed that 6 RCTs had grade A quality and 14 had grade B quality. The Meta analysis showed that compared with sterile water, 25%-75% oral sweet solution significantly reduced crying time (WMD = -21.16, 95%CI -39.66 to -2.77, P < 0.05) and the proportion of crying time (the duration of crying /3-minute periods after the injection) (WMD = -13.83, 95%CI -20.88 to -6.78, P < 0.01), while the crying time showed no significant difference between the group treated with oral administration of 12% sucrose solution and non-intervention group. Conclusions Oral sweet solution (25%-75%; 2 mL) given 2 minutes before vaccination can effectively relieve the pain caused by vaccination in infants aged 1-12 months.

2016 Vol. 18 (6): 534-540 [Abstract] ( 4269 ) [HTML 1KB] [PDF 1669KB] ( 889 )
541 GAO Xiao-Yan, GAO Ping-Ming, WU Shi-Guang, MAI Zhi-Guang, ZHOU Jie, HUANG Run-Zhong, ZHANG Shui-Tang, ZHONG Huan-Qiong, LIAO You-Ming, ZHANG Ai-Min, LIAO Tie-Jun, GUO Wei-Zhong, PAN Xue-Jun, PAN Min-Yi, XIAO Hou-Lan, ZHU Jin-Lin, WU Long-Yao, HUANG Zu-Lin
Risk factors for congenital anal atresia

Objective To investigate the risk factors for the development of congenital anal atresia in neonates. Methods A total of 70 neonates who were admitted to 17 hospitals in Foshan, China from January 2011 to December 2014 were enrolled as case group, and another 70 neonates who were hospitalized during the same period and had no anal atresia or other severe deformities were enrolled as control group. Univariate and multivariate logistic regression analyses were used to investigate the risk factors for the development of congenital anal atresia. Results The univariate analysis revealed that the age of mothers, presence of oral administration of folic acid, infection during early pregnancy, and polyhydramnios, and sex of neonates showed significant differences between the case and control groups (P < 0.05). The multivariate logistic regression analysis revealed that infection during early pregnancy (OR = 18.776) and male neonates (OR = 9.304) were risk factors for congenital anal atresia, and oral administration of folic acid during early pregnancy was the protective factor (OR = 0.086). Conclusions Infection during early pregnancy is the risk factor for congenital anal atresia, and male neonates are more likely to develop congenital anal atresia than female neonates. Supplementation of folic acid during early pregnancy can reduce the risk of congenital anal atresia.

2016 Vol. 18 (6): 541-544 [Abstract] ( 3938 ) [HTML 1KB] [PDF 1285KB] ( 822 )
545 DENG Mei, LIN Wei-Xia, GUO Li, ZHANG Zhan-Hui, SONG Yuan-Zong
Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome Hot!

The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to explore the genetic causes. Sanger sequencing was carried out to confirm the detected mutations. The sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene. The former was a reportedly pathogenic missense mutation of maternal origin, while the latter, a frameshift mutation from the father, has not been described yet. The findings in this study expand the mutation spectrum of DGUOK gene, and provide molecular evidence for the etiologic diagnosis of the patient as well as for the genetic counseling and prenatal diagnosis in the family.

2016 Vol. 18 (6): 545-550 [Abstract] ( 4896 ) [HTML 1KB] [PDF 2645KB] ( 960 )
481
2016 Vol. 18 (6): 481-481 [Abstract] ( 1227 ) [HTML KB] [PDF 754KB] ( 260 )
491
2016 Vol. 18 (6): 491-491 [Abstract] ( 1206 ) [HTML KB] [PDF 796KB] ( 306 )
516
2016 Vol. 18 (6): 516-516 [Abstract] ( 1292 ) [HTML KB] [PDF 781KB] ( 267 )
540
2016 Vol. 18 (6): 540-540 [Abstract] ( 1329 ) [HTML KB] [PDF 800KB] ( 286 )
EXPERIMENTAL RESEARCH
551 LI Li, WU Yu-Bin, XU Hai-Sheng, WANG Chang-Shan
Influence of PAX2 gene silencing on renal interstitial fibrosis in rats

Objective To investigate the influence of silencing PAX2 gene in vivo on epithelial-mesenchymal transition (EMT) of renal tubular cells in rats with renal interstitial fibrosis. Methods A total of 64 Wistar rats were anaesthetized, and unilateral ureteral obstruction (UUO) was performed to establish a rat model of renal interstitial fibrosis. The 64 rats were randomly divided into negative control and PAX2 gene silencing groups (n = 32 each). The rats in the control group were transfected with 200 μL NC-siRNA-in vivo jetPEITM solution. Those in the PAX2 gene silencing group were transfected with 200 μL PAX2-siRNA-in vivo jetPEITM solution. Each group was further divided into 4 subgroups based on the post-transfection time (3, 5, 7 and 14 days after transfection), with 8 rats in each subgroup. Renal tissue samples were harvested in each group. Real-time PCR and Western blot were used to measure the mRNA and protein expression of PAX2 in the renal cortex, as well as the mRNA and protein expression of E-cadherin and α-SMA. Results Compared with the control group, the PAX2 gene silencing group showed significantly lower mRNA and protein expression of PAX2 (P<0.05). In the two groups, the mRNA and protein expression levels of E-cadherin were gradually reduced over the time of obstruction, while those of α-SMA gradually increased. At 14 days after transfection, the PAX2 gene silencing group had significantly higher mRNA and protein expression of E-cadherin but lower mRNA and protein expression of α-SMA compared with the control group (P<0.05). Conclusions PAX2 gene silencing can significantly inhibit the process of EMT of renal tubular cells in rats with advanced fibrosis, suggesting that PAX2 gene silencing may have a therapeutic effect on renal interstitial fibrosis.

2016 Vol. 18 (6): 551-557 [Abstract] ( 3233 ) [HTML 1KB] [PDF 1669KB] ( 655 )
558 HE Hai-Yan, REN Ying-Ge, LI Ling, JIN Fu-Li, DU Yong-Ping, ZHANG Yue-Ping
Influence of cefuroxime sodium on synaptic plasticity of parallel fiber-Purkinje cells in young rats

Objective To investigate the influence of cefuroxime sodium (CS) on the electrophysiological function of cerebellar Purkinje cells (PCs) in Sprague-Dawley rats. Methods Postnatal day 7 (P7) Sprague-Dawley rats were divided into early administration I and II groups (administered from P7 to P14) and late administration group (administered from P14 to P21), and all the groups received intraperitoneally injected CS. The control groups for early and late administration groups were also established and treated with intraperitoneally injected normal saline of the same volume. There were 10 rats in each group. The rats in the early administration I group and early administration control group were sacrificed on P15, and those in the early administration II group, late administration group, and late administration control group were sacrificed on P22. The whole-cell patch-clamp technique was used to record inward current and action potential of PCs on cerebellar slices, as well as the long-term depression (LTD) of excitatory postsynaptic current (EPSC) in PCs induced by low-frequency stimulation of parallel fiber (PF). Results Compared with the control groups, the early and late administration groups had a slightly higher magnitude of inward current and a slightly higher amplitude of action potential of PCs (P > 0.05). All administration groups had a significantly higher degree of EPSC inhibition than the control groups (P < 0.01), and the early administration II group had a significantly greater degree of EPSC inhibition than the late administration group (P < 0.01). Conclusions Early CS exposure after birth affects the synaptic plasticity of PF-PCs in the cerebellum of young rats, which persists after drug withdrawal.

2016 Vol. 18 (6): 558-563 [Abstract] ( 2934 ) [HTML 1KB] [PDF 1760KB] ( 612 )
CLINICAL EXPERIENCE
564
No abstract available
2016 Vol. 18 (6): 564-566 [Abstract] ( 2533 ) [HTML 1KB] [PDF 1127KB] ( 826 )
REVIEW
567 GUO Dan-Dan, ZHENG Xiang-Rong
Research advances in gene polymorphisms in biological pathways of drugs for asthma
The studies on gene polymorphisms in biological pathways of the drugs for the treatment of asthma refer to the studies in which pharmacogenetic methods, such as genome-wide association studies, candidate gene studies, genome sequencing, admixture mapping analysis, and linkage disequilibrium, are used to identify, determine, and repeatedly validate the effect of one or more single nucleotide polymorphisms on the efficacy of drugs. This can provide therapeutic strategies with optimal benefits, least side effects, and lowest costs to patients with asthma, and thus realize individualized medicine. The common drugs for asthma are β2 receptor agonists, glucocorticoids, and leukotriene modifiers. This article reviews the research achievements in polymorphisms in biological pathways of the common drugs for asthma, hoping to provide guidance for pharmacogenetic studies on asthma in future and realize individualized medicine for patients with asthma soon.
2016 Vol. 18 (6): 567-573 [Abstract] ( 3168 ) [HTML 1KB] [PDF 1590KB] ( 795 )
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