CJCP
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2016 Vol.  18 No.  8
Published: 2016-08-15

CLINICAL RESEARCH
EXPERIMENTAL RESEARCH
REVIEW
CLINICAL RESEARCH
677 AN Yao, LIU Li, LI Qiu-Yu, RAN Ya-Lin, LI Lu-Quan
Risk factors for concurrent sepsis in neonates with necrotizing enterocolitis

Objective To investigate the risk factors for concurrent sepsis in neonates with necrotizing enterocolitis (NEC). Methods A retrospective analysis was performed for the clinical data of 273 neonates with NEC. The risk factors for concurrent sepsis were analyzed from the aspects of perinatal factors and treatment regimen before the diagnosis of NEC. Results The incidence rate of concurrent sepsis in NEC was 32.2% (88/273). The neonates with stage Ⅲ NEC had a significantly higher incidence rate of concurrent sepsis than those with stage Ⅱ NEC (69.0% vs 15.9%; P < 0.05). Of all neonates with sepsis, 62.5% experienced sepsis within 3 days after the diagnosis of NEC, and 37.5% experienced sepsis more than 3 days after the diagnosis. Compared with those without concurrent sepsis, the neonates with concurrent sepsis had significantly lower gestational age and birth weight (P < 0.05). The neonates who had scleredema, had stage Ⅲ NEC, needed gastrointestinal decompression after the diagnosis of NEC, and experienced a long time of gastrointestinal decompression tended to develop sepsis more easily (P < 0.05). Scleredema (OR=9.75, 95%CI:2.84-33.52, P < 0.001), stage Ⅲ NEC (OR=12.94, 95%CI:6.82-24.55, P < 0.001), and gastrointestinal decompression (OR=2.27, 95%CI:1.14-4.5, P=0.02) were independent risk factors for concurrent sepsis in NEC. Conclusions Scleredema, stage Ⅲ NEC, and gastrointestinal decompression are independent risk factors for concurrent sepsis in neonates with NEC.

2016 Vol. 18 (8): 677-682 [Abstract] ( 3806 ) [HTML 1KB] [PDF 1305KB] ( 970 )
683 ZHANG Qiong, WU Yun-Qin, ZHUANG Yan, CAO Jing, GAO Xi-Rong
Neurodevelopmental outcomes of extremely low birth weight and very low birth weight infants and related influencing factors

Objective To investigate the neurodevelopmental outcomes of extremely low birth weight (ELBW) and very low birth weight (VLBW) infants at a corrected age (CA) of 18 months and related factors influencing the outcomes. Methods The ELBW and VLBW infants who were admitted to the neonatal intensive care unit, survived, and discharged between January 2013 June 2014 were enrolled. These infants were followed up at CAs of 40 weeks and 1, 3, 6, 12, and 18 months to evaluate the neurodevelopmental outcomes. According to the neurodevelopmental status, the infants were divided into normal and abnormal neurodevelopment groups. The differences in clinical data were compared, and the risk factors for abnormal neurodevelopment in ELBW and VLBW infants were analyzed. Results A total of 338 ELBW and VLBW infants were enrolled, and 15 died during hospitalization. At the CA of 18 months, 145 infants (44.9%) survived and had complete follow-up data, 75 (23.2%) died, and 103 (31.9%) were lost to follow-up. Of the 145 infants who survived and had complete follow-up data, 71 (49.0%) had neurodevelopmental impairment (NDI), and 3 (2.1%) had cerebral palsy. No infants experienced visual damage with blindness in one or both eyes or hearing loss with a need for hearing aid. The logistic regression analysis showed that bronchopulmonary dysplasia (BDP) (OR=3.530, P < 0.001) and sepsis (OR=2.528, P=0.035) were independent risk factors for NDI in ELBW and VLBW infants, and the incidence of NDI increased with the severity of BDP. Conclusions Sepsis and BPD, especially severe BPD, are risk factors for NDI in ELBW and VLBW infants.

2016 Vol. 18 (8): 683-687 [Abstract] ( 4483 ) [HTML 1KB] [PDF 1201KB] ( 1019 )
688 WANG Chen-Hong, SHI Li-Ping, MA Xiao-Lu, LUO Fang, CHEN Zheng, LIN Hui-Jia, DU Li-Zhong
Factors influencing the prognosis of patent ductus arteriosus in very low birth weight infants

Objective To investigate the factors influencing the prognosis of patent ductus arteriosus (PDA) in very low birth weight (VLBW) infants. Methods A total of 194 VLBW infants who were admitted from January 2012 to December 2014 were enrolled as study subjects. According to cardiac ultrasound findings and treatment outcome, these infants were divided into non-PDA group, spontaneous closure group, pharmaceutical closure group, and surgical closure group. Their clinical and echocardiographic characteristics were analyzed. Results The spontaneous closure rate of PDA was 58.7%. The spontaneous closure group showed significantly higher gestational age, birth weight, and proportion of small-for-gestational-age infants than the pharmaceutical and surgical closure groups (P < 0.05). The pharmaceutical and surgical closure groups had a significantly higher incidence rate of neonatal respiratory distress syndrome and a significantly higher proportion of infants who were given pulmonary surfactant (PS) than the spontaneous closure group (P < 0.05). During different periods of time, the spontaneous closure group had a significantly smaller ductus arteriosus diameter than the pharmaceutical and surgical closure groups (P < 0.05). The multivariate logistic regression analysis showed that gestational age, application of PS, and ductus arteriosus diameter at 48 hours were significantly associated with the prognosis of PDA. The major transductal flow pattern in the spontaneous closure group was closing pattern, while in the pharmaceutical and surgical closure groups, the main flow patterns were pulmonary hypertension and growing patterns within 48 hours and growing pattern on days 4 and 7. Conclusions The VLBW infants have a high spontaneous closure rate of PDA. A decreased closure rate of PDA is associated with the lower gestational age and the application of PS. PDA with a large ductus arteriosus diameter and a growing or pulsatile flow pattern cannot easily achieve spontaneous closure.

2016 Vol. 18 (8): 688-693 [Abstract] ( 3801 ) [HTML 1KB] [PDF 1308KB] ( 898 )
694 JI Ling, MA Li-Ya, YANG Yun, HUANG Na-Na
Tidal breathing pulmonary function after treatment in neonates with respiratory distress syndrome

Objective To investigate the pulmonary function after treatment in neonates with respiratory distress syndrome (RDS) at varying disease severity levels and different gestational ages. Methods A total of 107 neonates with RDS were divided into <34 weeks group (65 neonates), late preterm group (21 neonates), full-term group (21 neonates). Another 121 non-RDS children were enrolled as the control group. According to the severity of RDS, the RDS neonates were divided into mild RDS group (grades 1 and 2; 76 neonates), and severe RDS (grades 3 and 4; 21 neonates). The tidal breathing pulmonary function was measured at a corrected gestational age of 44weeks. Results The pulmonary function parameters showed no significant differences across the groups of RDS neonates of different gestational ages; the tidal volume per kilogram of body weight (VT/kg) showed no significant difference between the RDS and non-RDS groups, while the RDS group had significantly higher ratio of time to peak tidal expiratory flow to total expiratory time (tPTEF/tE) and ratio of volume to peak tidal expiratory flow to total expiratory volume (vPTEF/vE) than the non-RDS group of the same gestational age (P < 0.05). At a corrected gestational age of 44 weeks, the two groups of neonates with varying severity levels of RDS had significantly lower tPTEF/tE and vPTEF/vE than the control group (P < 0.05), and tPTEF/tE and vPTEF/vE tended to decrease with the increasing severity level of RDS. Conclusions Neonates with RDS have significantly decreased pulmonary function than those without RDS. At a corrected gestational age of 44 weeks, the tidal breathing pulmonary function in neonates with RDS is not associated with gestational age, but is associated with the severity of RDS.

2016 Vol. 18 (8): 694-697 [Abstract] ( 3535 ) [HTML 1KB] [PDF 1194KB] ( 641 )
698 MAO Xin-Mei, JING Miao, TIAN Hai-Yan
Screening and follow-up treatment of 160 046 neonates with congenital adrenal hyperplasia in Ningxia, China

Objective To investigate the incidence of congenital adrenal hyperplasia (CAH) and treatment outcomes in neonates in Ningxia, China. Methods The clinical data of CAH screening for 160 046 neonates who were born in midwifery institutions in Ningxia from July 2014 to March 2016 were analyzed. Results Among the 160 046 neonates who underwent CAH screening, 70 (0.044%) obtained a positive result and 11 were diagnosed with CAH; the incidence rate of CAH was 1/14 550 (0.069‰). Among the 11 neonates diagnosed with CAH, 9 had the salt wasting type (2 died) and 2 had simple virilization. The 9 neonates were given glucocorticoids immediately once diagnosed and all of them achieved good growth and development. Conclusions The incidence of neonatal CAH in Ningxia is 1/14 550. It is very necessary to carry out CAH screening in Ningxia, and active treatment can improve the prognosis of neonates with CAH.

2016 Vol. 18 (8): 698-701 [Abstract] ( 3330 ) [HTML 1KB] [PDF 1170KB] ( 900 )
702 LI Song, SUN Qiao-Ling, ZHOU Yi, ZHANG Yue, HU Xun-Jia, HONG Wei-Sheng, JI Guo-Ping
Factors influencing the quality of life of 104 children with phenylketonuria in Anhui Province, China

Objective To investigate the factors influencing the quality of life (QOL) of children with phenylketonuria (PKU) in Anhui Province, China. Methods A total of 104 PKU children who were diagnosed and treated in three major maternal and child health hospitals in Anhui Province were enrolled as study subjects. The PedsQLTM 4.0 Generic Core Scales were used to evaluate the quality of life of these children. The multivariate logistic regression analysis was used to evaluate the factors influencing the QOL. Results The 104 PKU children had significantly lower overall QOL score and scores on the subscales of physiological functioning, emotional functioning, and social functioning than the general school-age children (P < 0.01). They also had a significantly lower score on the physiological domain consisting of emotional functioning, social functioning, and role functioning than the general school-age children (P < 0.01). The multivariate logistic regression analysis showed that an older age (≥ 4 years) of PKU children was the risk factor for poor QOL (OR=8.569, P < 0.01), and guardians' engagement at enterprises or institutions was the protective factor for QOL (OR=0.206, P < 0.05). Conclusions PKU children have a low level of QOL, and age and guardians' occupation are factors influencing the QOL.

2016 Vol. 18 (8): 702-706 [Abstract] ( 3527 ) [HTML 1KB] [PDF 1298KB] ( 743 )
707 TANG Ping, SHI Wei, ZENG Hai-Ling, DING Wei, WANG Cheng, YAO Kai-Hu, WEN De-Nian
Prevalence of Moraxella catarrhalis in the nasopharyngeal specimen from 1082 hospitalized children with respiratory infection and the drug resistance of the isolates
Objective To investigate the prevalence of Moraxella catarrhalis in the nasopharyngeal region of children with respiratory infection and the sensitivity of Moraxella catarrhalis isolates to common antimicrobial drugs. Methods Nasopharyngeal swabs were collected from 1082 children with respiratory infection, and Moraxella catarrhalis strains were isolated. The E-test method and disc diffusion test were used to determine the sensitivity of these strains to 11 common antimicrobial drugs. The test results were interpreted with reference to the standards of European Committee on Antimicrobial Susceptibility Testing (EUCAST), Clinical and Laboratory Standards Institute (CLSI), and British Society for Antimicrobial Chemotherapy (BSAC). The nitrocefin disc method was used to detect whether the isolated strains produced β-lactamase. Results Among the 1 082 children with respiratory infection, 77 (77/1082, 7.12%) carried Moraxella catarrhalis in the nasopharyngeal region. All the strains produced β-lactamase. With reference to all the three standards, all the strains were sensitive to amoxycillin-clavulanate and had a susceptibility rate of >95% towards ciprofloxacin and tetracycline. According to the EUCAST and CLSI standards, the susceptibility rate of the strains towards sulfamethoxazole-trimethoprim was as high as 98.7%, and more than 80% of all strains were sensitive to the three cephalosporins detected; however, with reference to the BSAC standard, only 2.6% of the strains were sensitive to cefuroxime, with an intermediate rate of 44.2% and a drug resistance rate of 53.2%. The rate of resistance to ampicillin was 81.8%. According to the CLSI standard, the non-susceptibility rate of the strains to erythromycin was 79.2%, and according to the EUCAST or BSAC standards, their non-susceptibility rate reached 90.9%; more than one third of the strains (27/77, 35.1%) had a minimal inhibitory concentration of >256 mg/L. Conclusions All of the Moraxella catarrhalis isolates in the nasopharyngeal region of children with respiratory infection produce β-lactamase and are sensitive to amoxycillin-clavulanate. These isolates have high susceptibility rates to the third- and fourth-generation cephalosporins and sulfamethoxazole-trimethoprim, but most of the isolates are resistant to ampicillin, cefuroxime, and erythromycin.
2016 Vol. 18 (8): 707-712 [Abstract] ( 4060 ) [HTML 1KB] [PDF 1356KB] ( 751 )
713 LI Wei-Ran, DENG Si-Yan, SHU Min, ZHU Yu, WEN Yang, GUO Qin, LIAO Qiong, WAN Chao-Min
A clinical study of invasive fungal disease in children without underlying diseases
Objective To investigate the clinical features of invasive fungal disease (IFD) in children without underlying diseases. Methods The clinical data of 49 children without underlying diseases who were diagnosed with IFD were retrospectively studied. Results Fungal pathogens were detected in 37 (76%) out of 49 patients, including Cryptococcus neoformans (17 children, 46%), Candida albicans (10 children, 27%), Aspergillus (3 children, 8%), and Candida parapsilosis (3 children, 8%). Fungal pneumonia (17 children, 46%) was the most commonly seen disease, with Candida albicans as the major pathogen (9 children, 53%). The 49 children had at least one high-risk factor for infection, including the use of antibiotics, a long length of hospital stay, and invasive procedures. Of all the children, 82% did not respond well to antibiotic treatment or experienced recurrent pyrexia. Among the 24 children who underwent G tests, 17 (71%) showed positive results. All the children were given antifungal therapy, and among these children, 37 (75%) were cured, 3 (6%) were still in the treatment, 5 (10%) died, and 4 (8%) were lost to follow-up. Conclusions In IFD children without underlying diseases, Cryptococcus neoformans and Candida are the main pathogens, and lung infection is the most common disease. Long-term use of high-dose antibiotics may be an important risk factor for fungal infection. The IFD children without underlying diseases are sensitive to antifungal drugs and have a satisfactory prognosis.
2016 Vol. 18 (8): 713-717 [Abstract] ( 3618 ) [HTML 1KB] [PDF 1226KB] ( 863 )
718 ZHANG Qiu-Li, WANG Hong-Bo, WANG Yan-Ling, ZHOU Jian-Sheng, CAI Juan, HE Rui-Rong
Genotypes of adenoviruses in infants and young children with diarrhea
Objective To investigate the prevalence of adenoviruses (AdV) and their genotypes in infants and young children with diarrhea. Methods A total of 380 children with diarrhea aged less than 3 years were enrolled. The genomic DNA was extracted from stool and PCR was used to detect AdV. Clone sequencing and genotyping were performed for DNA in AdV-positive specimens. Results AdV was detected in 24 out of 380 specimens, and the detection rate was 6.3% (24/380). A majority of children with positive AdV were aged 2-3 years. The viral sequence analysis of positive specimens showed that the detection rates of enteric AdV41 and non-enteric AdV were 4.2% (16/380) and 2.1% (8/380), respectively, and among the children with non-enteric AdV, there were 2 with AdV1, 2 with AdV2, 1 with AdV7, 2 with AdV12, and 1 with AdV31. Conclusions Diarrhea caused by AdV is commonly seen in children aged 2-3 years, and AdV41 is the major predominant strain.
2016 Vol. 18 (8): 718-720 [Abstract] ( 3962 ) [HTML 1KB] [PDF 1210KB] ( 623 )
721 SUN Rui-Li, ZHU Shu-Xia, ZHANG Yan-Yan, WU Yi-Fei, WANG Xing-Jian
Changes in peripheral blood T helper 9 cells and interleukin-9 in children in the acute stage of Kawasaki disease

Objective To investigate the changes in the expression levels of peripheral blood T helper 9 (Th9) cells and cytokine interleukin-9 (IL-9) in children in the acute stage of Kawasaki disease (KD) and their clinical significance. Methods A total of 45 children in the acute stage of KD who were treated from April 2014 to July 2015 were enrolled, and the children were followed up in the recovery stage. Another 45 healthy children who underwent physical examination were enrolled as the control group. Flow cytometry was used to measure the percentage of peripheral blood Th9 cells, and ELISA was used to measure the serum level of IL-9. Results The children in the acute stage of KD showed a significantly higher percentage of Th9 cells and a significantly higher serum level of IL-9 compared with those in the recovery stage and the control group (P < 0.05). The percentage of Th9 cells and serum level of IL-9 showed no significant differences between the children in the recovery stage and those in the control group (P > 0.05). In the acute stage, the percentage of Th9 cells was positively correlated with the levels of IL-9, C-reactive protein (CRP), procalcitonin (PCT), erythrocyte sedimentation rate (ESR), platelet count (PLT), and globulin (r=0.624, 0.324, 0.402, 0.382, 0.467, and 0.386 respectively, all P < 0.05), but negatively correlated with serum albumin (r=-0.306, P < 0.05). The serum level of IL-9 was positively correlated with the levels of CRP, PCT, ESR, PLT, and globulin (r=0.365, 0.456, 0.403, 0.423, and 0.453 respectively, all P < 0.05), but negatively correlated with serum albumin (r=-0.343, P < 0.05). Conclusions The children in the acute stage of KD show significant increases in the percentage of peripheral Th9 cells and serum cytokine IL-9 level, which return to normal in the recovery stage. In the acute stage of KD, the expression levels of Th9 and IL-9 are closely correlated with laboratory markers. The results suggest that Th9 cells and IL-9 play important roles in the pathogenesis and outcome of KD.

2016 Vol. 18 (8): 721-725 [Abstract] ( 3143 ) [HTML 1KB] [PDF 620KB] ( 674 )
726 LUO Jing-Hua, YANG Liang-An, LI Guo-Lin
Changes in proportion and function of peripheral CD4+LAP+ regulatory T cells in children with asthma
Objective To investigate the changes in the proportion and function of peripheral CD4+LAP+regulatory T cells (CD4+LAP+Treg cells) in children with asthma, as well as the role of CD4+LAP+Treg cells in the pathogenesis of asthma. Methods A total of 75 children who were diagnosed with asthma from March 2014 to September 2015 were enrolled as study subjects, and according to their conditions, they were divided into acute-stage asthma group (40 children) and remission-stage asthma group (35 patients). Another 30 children who underwent physical examination were enrolled as the healthy control group. Flow cytometry was used to determine the percentage of peripheral CD4+LAP+Treg cells, and[3H]-thymidine incorporation assay was performed to analyze the immunosuppression of CD4+LAP+Treg cells in each group. Results The acute-stage asthma group showed significant reductions in the proportion of CD4+LAP+Treg cells compared with the remission-stage asthma group and the healthy control group (2.0%±1.0% vs 4.1%±2.4%/4.6%±3.0%; P < 0.05). The acute-stage asthma group also showed a significant reduction in the immunosuppression rate of CD4+LAP+Treg cells compared with the remission-stage asthma group and the healthy control group (21%±4% vs 55%±9%/62%±11%; P < 0.05). Conclusions In children with asthma, the reduction in the number and inhibitory function of peripheral CD4+LAP+Treg cells may be involved in the pathogenesis of asthma.
2016 Vol. 18 (8): 726-730 [Abstract] ( 3366 ) [HTML 1KB] [PDF 1366KB] ( 718 )
731 GONG Lu, HU Lan
Application of electronic bronchoscopy in pediatric intensive care patients with difficult ventilator weaning
Objective To investigate the value of electronic bronchoscopy in the etiological diagnosis and treatment of pediatric intensive care patients with difficult ventilator weaning. Methods A retrospective analysis was performed for the clinical data of 92 pediatric intensive care patients with difficult ventilator weaning and underwent electronic bronchoscopy. Results Among all the 92 children, the most common underlying disease was respiratory system disease (39 children). Electronic bronchoscopy found abnormalities in 87 children (95%), mainly excessive airway secretions and abnormal airway structure. There was no difference in the severity of tracheobronchial stenosis and tracheobronchomalacia shown by electronic bronchoscopy in children suffering from congenital heart disease (CHD), with and without difficult ventilator weaning. When used to predict difficult ventilator weaning in children with CHD, tracheobronchial stenosis or tracheobronchomalacia had a sensitivity of 68.4% and a specificity of 66.7%. Among the 36 children with atelectasis caused by excessive secretion or phlegm-induced airway obstruction, 23 achieved full or partial re-expansion after bronchial lavage and/or one-lung ventilation. Conclusions Electronic bronchoscopy helps to clarify the cause of difficult ventilator weaning and perform treatment under an electronic bronchoscope accordingly in pediatric intensive care patients with difficult ventilator weaning. Tracheobronchial stenosis and tracheobronchomalacia shown by electronic bronchoscopy cannot not be used as an index for the prediction of ventilator weaning in children with CHD.
2016 Vol. 18 (8): 731-735 [Abstract] ( 3941 ) [HTML 1KB] [PDF 1598KB] ( 654 )
736 LUO Ren-Fu, LIANG Xia, LIU Cheng-Fang, ZHANG Lin-Xiu, YUE Ai
Risk factors for anemia in infants aged 6-12 months from rural areas of southern Shaanxi Province, China
Objective To investigate the prevalence of anemia and related risk factors in infants aged 6-12 months from rural areas of southern Shaanxi Province. Methods A questionnaire survey was used to collect the basic information on infants aged 6-12 months and their families from rural areas of southern Shaanxi Province, China. The content of hemoglobin was measured in these infants. A multivariate logistic stepwise regression analysis was performed to determine the risk factors for the development of anemia in infants. Results A total of 1 802 infants and their families participated in the survey, and there were 1 770 valid samples. A total of 865 infants (865/1 770, 48.87%) were found to have anemia. The multivariate logistic stepwise regression analysis showed that breastfeeding after birth (lack of scientific supplementary food) increased the risk of anemia in infants (OR=1.768, P < 0.01). Addition of supplementary food which met the criteria for minimum feeding frequency recommended by WHO (OR=0.779, P < 0.05) and formula milk feeding (OR=0.658, P < 0.01) were protective factors against anemia in infants. Conclusions In the rural areas in southern Shaanxi Province, anemia in infants aged 6-12 months is still a serious public health problem. Improper feeding can increase the risk of anemia in infants, and scientific addition of supplementary food is the key to reducing anemia in infants.
2016 Vol. 18 (8): 736-741 [Abstract] ( 3846 ) [HTML 1KB] [PDF 1461KB] ( 708 )
742 CHANG Li-Xian, REN Ruan-Ruan, YANG Wen-Yu, ZHANG Jia-Yuan, WAN Yang, LIU Tian-Feng, ZHANG Li, CHEN Xiao-Juan, ZHU Shuai, RUAN Min, CHEN Xia, LIU Xiao-Ming, QI Ben-Quan, ZHANG Ran-Ran, ZOU Yao, CHEN Yu-Mei, ZHU Xiao-Fan
Association between clinical outcome and gene mutation in children with Fanconi anemia
Objective To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA). Methods A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed. Results Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type. Conclusions Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.
2016 Vol. 18 (8): 742-745 [Abstract] ( 3800 ) [HTML 1KB] [PDF 1245KB] ( 726 )
746 LI Long, MA Na, LI Xiu-Rong, GONG Fei, DU Juan
Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome
Objective To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). Methods The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. Results The proband carried compound heterozygous mutations of c.88C > T (p.Arg30*) and c.968+2T > A in the CLCNKB gene; c.88C>T (p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T > A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. Conclusions The compound heterozygous mutations c.88C>T (p.Arg30*) and c.968+2 T> A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.
2016 Vol. 18 (8): 746-750 [Abstract] ( 3018 ) [HTML 1KB] [PDF 1861KB] ( 702 )
751 CHENG Ying, GUO Li, SONG Yuan-Zong
Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I
Progressive familial intrahepatic cholestasis type I (PFIC1) is an autosomal recessive disorder caused by biallelic mutations of ATP8B1 gene, with progressive cholestasis as the main clinical manifestation. This paper reports the clinical and genetic features of a PFIC1 patient definitely diagnosed by ATP8B1 genetic analysis. The patient, a boy aged 14 months, was referred to the hospital with the complaint of jaundiced skin and sclera over 10 months. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined etiology. On physical examination, hepatosplenomegaly was discovered in addition to jaundice of the skin and sclera. The liver was palpable 4 cm below the right subcostal margin and 2 cm below the xiphoid while the spleen 2 cm below the left subcostal margin. The liver function test revealed elevated levels of serum total bile acids, bilirubin, and transaminases; however, the γ-glutamyl transferase level was normal. The diagnosis was genetic cholestasis of undetermined origin. At the age of 1 year and 8 months, a Roux-en-Y cholecystocolonic bypass operation was performed, and thereafter the jaundice disappeared. At 5 years and 1 month, via whole genome sequencing analysis and Sanger sequencing confirmation, the boy was found to be a homozygote of mutation c.2081T > A (p.I694N) of ATP8B1 gene, and thus PFIC1 was definitely diagnosed. The boy was followed up until he was 6 years, and jaundice did not recur, but the long-term outcome remains to be observed.
2016 Vol. 18 (8): 751-756 [Abstract] ( 3151 ) [HTML 1KB] [PDF 1925KB] ( 746 )
706
2016 Vol. 18 (8): 706-706 [Abstract] ( 1261 ) [HTML KB] [PDF 823KB] ( 305 )
712
2016 Vol. 18 (8): 712-712 [Abstract] ( 1188 ) [HTML KB] [PDF 830KB] ( 293 )
725
2016 Vol. 18 (8): 725-725 [Abstract] ( 1528 ) [HTML KB] [PDF 832KB] ( 303 )
EXPERIMENTAL RESEARCH
757 ZHU Qing-Ling, LI Feng, WANG Jun-Li, MA Jing-Qiu, SHENG Xiao-Yang
Establishment of a rat model of oral food allergy Hot!

Objective To establish a food allergy model in Brown Norway (BN) rats by gavage of ovalbumin (OVA) without any adjuvant, and to evaluate this model. Methods A total of 20 male BN rats aged 3 weeks were randomly divided into allergy group and control group (n=10 each). BN rats in the allergy group were given OVA 1 mg per day by gavage, and all the rats were treated for 41 days continuously. On day 42, the rats in the allergy group were given OVA 100 mg by gavage for challenge. The rats in the control group were given normal saline of the same volume by gavage. Differences in body length, body weight, and food intake were compared between the two groups on days 7, 14, 21, 28, 35, and 42. ELISA was used to measure the serum OVA-IgE level and plasma histamine level after challenge on day 42, and the changes in rats' appearance and fecal properties were observed. The model of food allergy was considered successful when the serum OVA-IgE level in the allergy group was no less than the mean serum OVA-IgE level + 3 standard deviation in the control group. Results There were no significant differences in body length, body weight or food intake between the allergy and control groups at all time points (P > 0.05). On day 21, the control group had a significantly higher food intake than the allergy group (P < 0.05). On day 42 after challenge, the allergy group showed significantly higher serum OVA-IgE and plasma histamine levels than the control group (P < 0.05). The sensitization rate (rate of successful modeling) was 90%. The fecal properties showed no significant differences between the two groups. Conclusions OVA by gavage without any adjuvant can successfully establish the model of food allergy in BN rats and has a high success rate. Food allergy induced by OVA may reduce food intake within a short period of time, but no influence on rats' body length or body weight has been observed.

2016 Vol. 18 (8): 757-761 [Abstract] ( 3170 ) [HTML 1KB] [PDF 1435KB] ( 741 )
762 SHI Xue-Mei, FU Ya-Wen, HUANG Lai-Rong, YANG Hui
Influence of chronic lead exposure in rats during the developmental stage on expression of leptin in plasma, cerebrospinal fluid, and hippocampus

Objective To investigate the influence of lead exposure in rats during the developmental stage on the expression of leptin in plasma, cerebrospinal fluid, and hippocampus, as well as investigating whether leptin is associated with the mechanism of cognitive impairment induced by lead exposure. Methods The rat model of cognitive impairment after chronic lead exposure was established by adding lead acetate into drinking water. According to the concentration of lead acetate in drinking water, the rats were divided into control (0 ppm), low-lead (50 ppm), medium-lead (200 ppm), and high-lead groups (1000 ppm), with 16 rats in each group. Atomic absorption spectrometry was used to measure the content of lead in the plasma, cerebrospinal fluid and hippocampus. ELISA was used to measure the level of leptin in the plasma and cerebrospinal fluid. Immunohistochemistry was used to observe the distribution of leptin protein in the hippocampus. Western blot was used for relative quantification of leptin proteins in the hippocampus. Results Compared with the control group, the lead exposure groups showed significant increases in the content of lead in blood, cerebrospinal fluid, and hippocampus (P < 0.01), as well as significant reductions in the levels of leptin in plasma and cerebrospinal fluid (P < 0.05). The results of immunohistochemical staining showed that leptin was mainly distributed in the cytoplasm of pyramidal neurons in the hippocampal CA region. The results of Western blot showed that compared with the control group, the three lead exposure groups showed a slight increase in the protein expression of leptin in the hippocampus (P > 0.05). Conclusions Lead exposure can reduce the levels of leptin in plasma and cerebrospinal fluid in rats, which may be associated with the mechanism of cognitive impairment induced by lead exposure.

2016 Vol. 18 (8): 762-769 [Abstract] ( 3118 ) [HTML 1KB] [PDF 2203KB] ( 701 )
770 ZHAO Li, ZHOU Xiao-Yu, ZHOU Xiao-Guang, CHENG Rui, LI Yong, QIU Jie
Role of miRNA-210 in hypoxic-ischemic brain edema in neonatal rats

Objective To investigate the role of miRNA-210 in hypoxic-ischemic brain edema in neonatal rats. Methods A total of 80 neonatal rats were randomly divided into control group, normal saline group, miRNA-210 expression inhibition group, and miRNA-210 overexpression group, with 20 rats in each group. Each group was randomly divided into sham-operation group and hypoxia-ischemia (HI) group, with 10 rats in each group. The neonatal rats in the HI group were treated with ligation of the left common carotid artery and then put in a hypoxia cabin with mixed gas of 8% O2 and 92% N2 for 2 hours; those in the sham-operation group were treated with isolation of the left common carotid artery only, without ligation or hypoxia treatment. After HI or sham-operation, the rats in the normal saline group, miRNA-210 expression inhibition group, and miRNA-210 overexpression group were intracranially injected with normal saline (2.5 mg/kg), miRNA-210 inhibitor (2.5 mg/kg), and miRNA-210 mimic (2.5 mg/kg) respectively. No treatment was given to the rats in the control group. The rats were sacrificed three days later, and the left brain tissue was harvested. Fluorescent quantitative PCR was used to measure the expression of miRNA-210; the dry-wet weight method was used to measure the water content of brain tissue; hematoxylin and eosin staining was used to observe the histomorphological changes in the brain. Results The HI groups showed significant reductions in the expression of miRNA-210 and significant increases in the water content of brain tissue compared with the corresponding sham-operation groups (P < 0.05). Compared with the normal saline HI group, the miRNA-210 expression inhibition HI group showed a significant reduction in the expression of miRNA-210 and a significant increase in the water content of brain tissue (P < 0.05), and the miRNA-210 overexpression HI group showed a significant increase in the expression of miRNA-210 and a significant reduction in the water content of brain tissue (P < 0.05). The results of hematoxylin and eosin staining suggested that the miRNA-210 expression inhibition HI group showed marked edema, and the miRNA-210 overexpression HI group showed a significant improvement in edema. Conclusions Neonatal rats show down-regulated expression of miRNA-210 after HI, suggesting that miRNA-210 may be involved in the development and progression of hypoxic-ischemic brain edema in neonatal rats.

2016 Vol. 18 (8): 770-774 [Abstract] ( 4203 ) [HTML 1KB] [PDF 2111KB] ( 661 )
775 JIN Ming-Wei, XUAN Cheng-Min, AN Qi, WANG Lei
Effect of phosphoinositide 4-phosphate on invasion and migration of human glioma U87 cells

Objective To investigate the effect of phosphoinositide 4-phosphate (PI4P) on human glioma U87 cells and the mechanism of action of PI4P in the development of human glioma through the overexpression or silencing of PI4P in human glioma U87 cells, and to provide a new target for basic research and clinical treatment of glioma. Methods LV-Helper1, LV-Helper2, pWPXLd-PI4P, and pLL3.7-shPI4P were used to package pWPXLd-PI4P and pLL3.7-shPI4P lentiviruses. The U87-GFP (PI4P-overexpression control group), U87-GFP-PI4P (PI4P-overexpression experimental group), U87-Scramble (PI4P-silencing control group), and U87-shPI4P (PI4P-silencing experimental group) cell lines were established. Wound-healing assay and Transwell assay were used to evaluate cell migration and invasion, and Western blot was used to measure the expression of PI4P in each group. Results Western blot detected the expression of exogenous PI4P in the U87-GFP-PI4P cell line, and the U87-shPI4P cell line showed reduced expression of PI4P compared with the U87-Scramble cell line in the control group. The U87-GFP-PI4P cell line with PI4P overexpression had a significantly stronger ability of migration than the U87-GFP cell line in the control group (P < 0.01); the U87-shPI4P cell line with PI4P silencing had a reduced ability of migration than the U87-Scramble cell line in the control group (P < 0.01). The U87 cell line with PI4P overexpression had a significantly stronger invasion ability than the control group (P < 0.05); after PI4P silencing, the experimental group showed a significant reduction in invasion ability compared with the control group (P < 0.05). Conclusions In human glioma U87 cells, PI4P can promote the invasion and migration of glioma cells and may become a new target in the basic research and clinical treatment of glioma.

2016 Vol. 18 (8): 775-780 [Abstract] ( 3670 ) [HTML 1KB] [PDF 3227KB] ( 933 )
REVIEW
781 HUANG Yang, MU De-Zhi
PINK1 and the related diseases

As a kind of mitochondrial membrane protein with protein kinase activity, phosphatase and tensin homolog deleted on chromosome ten induced kinase 1 (PINK1) is involved in many biological metabolic processes. Since PINK1 had been found to be associated with Parkinson's disease, researchers have been exploring its biological function. PINK1 localizes in the outer mitochondrial membrane and regulates cell function through phosphorylating proteins. PINK1 is involved in mitochondrial function, mitochondrial morphology and mitochondrial autophagy, but the regulatory pathway is not yet clear. PINK1 is expressed widely in many tissues with a variety of biological activity, especially in tissues with high energy consumption. It may therefore be involved in the development and regulation of many diseases. Mutations in PINK1 were originally discovered to cause autosomal recessive Parkinson's disease. Recently some research has revealed that PINK1 is related to the development of neonatal hypoxic-ischemic encephalopathy, cancer, diabetes and other diseases. Studying and exploring the biological functions of PINK1 will facilitate the identification of the targets for therapeutic intervention for its related diseases. This review article mainly focuses on recent studies about the biological function and related diseases of PINK1.

2016 Vol. 18 (8): 781-786 [Abstract] ( 3630 ) [HTML 1KB] [PDF 1725KB] ( 807 )
787 LIU Jing, QIN Jiong
Research advances of posterior reversible encephalopathy syndrome in children
Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity affecting the posterior brain, i.e. occipital and parietal lobes. The syndrome are characterized by headaches, altered mental status, seizures, and visual disturbances. Although the pathogenesis remains unclear, endothelial dysfunction may be a key factor. The basic disease may play a crucial role in the incidence of PRES. In most cases, PRES resolves spontaneously and patients show both clinical and radiological improvements. In severe forms, PRES might cause substantial morbidity with sequel and even mortality, as a result of acute hemorrhage or massive posterior fossa edema causing obstructive hydrocephalus or brainstem compression. Early identification, active and appropriate treatment is very important.
2016 Vol. 18 (8): 787-791 [Abstract] ( 3581 ) [HTML 1KB] [PDF 1429KB] ( 1074 )
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