CJCP
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2016 Vol.  18 No.  11
Published: 2016-11-15

EXPERT SUGGESTION
CLINICAL RESEARCH
CASE ANALYSIS
EXPERIMENTAL RESEARCH
CASE REPORT
REVIEW
EXPERT SUGGESTION
1059 LI Mao-Jun, MA Juan, SHAO Xiao-Mei, WU Qing, SHI Wei, HU Yan-Sheng, LIU Ai-Min, CHEN Chang-Hui
Suggestions for standardized management of nomenclature and classification of neonatal diseases Hot!

Nomenclature and classification of diseases are not only related to clinical diagnosis and treatment, but also involved in the fields such as management and exchange of medical information, medical expense payments, and medical insurance payment. In order to standardize clinical physicians' diagnostic and treatment activities, medical records, and the first page of medical records, this article elaborates on the basic principles and methods for nomenclature and classification of diseases with reference to international nomenclature of diseases and international classification of diseases. Meanwhile, in view of the problems in clinical practice, this article proposes the classification of neonatal diseases, the basic procedure and writing rules in the diagnosis of neonatal diseases, and death diagnosis principles.

2016 Vol. 18 (11): 1059-1064 [Abstract] ( 4448 ) [HTML 1KB] [PDF 1108KB] ( 1552 )
CLINICAL RESEARCH
1065 QI Bo-Xiang, ZHU Lei, SHANG Lei, SHENG Li-Ping, HU Bao-Li, GAO Kun
Clinical effect and safety of somatostatin in treatment of postoperative gastrointestinal bleeding in neonates

Objective To investigate the clinical effect and safety of somatostatin in the treatment of postoperative gastrointestinal bleeding in neonates. Methods A prospective randomized study was performed, and 126 neonates who underwent surgery for congenital gastrointestinal anomalies were randomly divided into control group, treatment group A, and treatment group B. The neonates in the control group were given routine postoperative hemostasis, and those in the treatment groups were given somatostatin in addition to the treatment for the control group. The neonates in treatment group A were given intravenous injection of somatostatin 0.25 mg as the initial dose and 0.25 mg/h for maintenance, and those in treatment group B were given continuous intravenous pumping of somatostatin at a dose of 3.5 μg/ (kg·h). The clinical outcome and complications were compared between the three groups. Results Compared with the control group, the treatment groups had significantly shortened clearance time in occult blood test for gastrointestinal decompression drainage and a significantly lower degree of the reduction in 24-hour hemoglobin (P < 0.05), while there were no significant differences between treatment groups A and B. Compared with the control group, treatment group A had significant reductions in heart rate (HR), respiratory rate (RR), blood pressure (BP), and SaO2 after one hour of treatment (P < 0.05), but there were no significant differences at the other time points between the two groups (P > 0.05). There were no significant differences in monitoring indices between the control group and treatment group B (P > 0.05). No neonates in the control group experienced hypoglycemia reaction, and treatment group A had a significantly higher incidence rate of hypoglycemia (20%) than treatment group B (P < 0.05). Conclusions Somatostatin has a marked clinical effect and good safety in the treatment of neonates with postoperative gastrointestinal bleeding, and the administration of somatostatin by continuous intravenous pumping leads to fewer side effects.

2016 Vol. 18 (11): 1065-1068 [Abstract] ( 4407 ) [HTML 1KB] [PDF 1143KB] ( 1822 )
1069 CHANG Ming, LU Hong-Yan, XIANG Hong, LAN Hou-Ping
Clinical effects of different ways of mechanical ventilation combined with pulmonary surfactant in treatment of acute lung injury/acute respiratory distress syndrome in neonates:a comparative analysis

Objective To compare the therapeutic effects of high-frequency oscillatory ventilation+pulmonary surfactant (HFOV+PS), conventional mechanical ventilation+pulmonary surfactant (CMV+PS), and conventional mechanical ventilation (CMV) alone for acute lung injury/acute respiratory distress syndrome (ALI/ARDS) in neonates. Methods A total of 136 neonates with ALI/ARDS were enrolled, among whom 73 had ALI and 63 had ARDS. They were divided into HFOV+PS group (n=45), CMV+PS group (n=53), and CMV group (n=38). The neonates in the first two groups were given PS at a dose of 70-100 mg/kg. The partial pressure of oxygen (PaO2), partial pressure of carbon dioxide (PaCO2), PaO2/fraction of inspired oxygen (FiO2), oxygenation index (OI), and respiratory index (RI) were measured at 0, 12, 24, 48, and 72 hours of mechanical ventilation. Results At 12, 24, and 48 hours of mechanical ventilation, the HFOV+PS group had higher PaO2 and lower PaCO2 than the CMV+PS and CMV groups (P < 0.05). At 12, 24, 48, and 72 hours of mechanical ventilation, the HFOV+PS group had higher PaO2/FiO2 and lower OI and RI than the CMV+PS and CMV groups (P < 0.05). The HFOV+PS group had shorter durations of mechanical ventilation and oxygen use than the CMV+PS and CMV groups (P < 0.05). There were no significant differences in the incidence rates of air leakage and intracranial hemorrhage and cure rate between the three groups. Conclusions In neonates with ALI/ARDS, HFOV combined with PS can improve pulmonary function more effectively and shorten the durations of mechanical ventilation and oxygen use compared with CMV+PS and CMV alone. It does not increase the incidence of complications.

2016 Vol. 18 (11): 1069-1074 [Abstract] ( 5428 ) [HTML 1KB] [PDF 1446KB] ( 1498 )
1075 HUANG Jing, LIN Xin-Zhu, ZHENG Zhi
Clinical effect of high-frequency oscillatory ventilation combined with pulmonary surfactant in treatment of neonatal severe meconium aspiration syndrome complicated by pulmonary hemorrhage

Objective To study the clinical effect and safety of high-frequency oscillatory ventilation (HFOV) combined with pulmonary surfactant (PS) in the treatment of neonatal severe meconium aspiration syndrome (MAS) complicated by neonatal pulmonary hemorrhage (NPH). Methods A total of 48 children with severe MAS complicated by NPH were enrolled, and a retrospective analysis was performed for the clinical effects of HFOV+PS (trial group, 25 children) and HFOV alone (control group, 23 children). The blood gas parameters, oxygenation index (OI), PaO2/FiO2 (P/F) value, duration of pulmonary hemorrhage, ventilation time, length of hospital stay, incidence of complications, and outcome were compared between the two groups. Results At 6, 12, 24, and 48 hours after treatment, the trial group had significantly better PaO2, OI, and P/F value than the control group (P < 0.05). Compared with the control group, the trial group had significantly shortened ventilation time and duration of pulmonary hemorrhage (P < 0.05). There were no significant differences in the length of hospital stay, the incidence of complications, and cure rate between the two groups (P > 0.05). Conclusions HFOV combined with PS can better improve oxygenation function and shorten the duration of NPH and ventilation time. Meanwhile, it does not increase the incidence of adverse events. Therefore, it is a safe and effective therapy.

2016 Vol. 18 (11): 1075-1079 [Abstract] ( 4405 ) [HTML 1KB] [PDF 1224KB] ( 1221 )
1080 TIAN Yun-Fen, LI Li, MI Hong-Ying, HUANG-PU Chun-Rong, HE Shan, XU Xiao-Yan, CAO Yong-Jiu
Value of combined measurement of intestinal fatty acid-binding protein and fecal calprotectin in diagnosis of necrotizing enterocolitis in full-term neonates

Objective To study the value of combined measurement of intestinal fatty acid-binding protein (I-FABP) and fecal calprotectin (FC) in the diagnosis of necrotizing enterocolitis (NEC) in full-term neonates. Methods A total of 36 full-term neonates with NEC (case group) and 39 neonates without digestive system diseases (control group) were enrolled as study subjects. ELISA was used to measure the serum I-FABP level and fecal FC level, and the clinical value of I-FABP combined with FC in the diagnosis of NEC was evaluated. Results The case group had significantly higher I-FABP and FC levels than the control group (P < 0.05). In the case group, serum I-FABP level was positively correlated with fecal FC level (r=0.71, P < 0.05). In the diagnosis of NEC, I-FABP alone, FC alone, and I-FABP/FC combination had sensitivities of 83.3%, 81.5%, and 79.5%, specificities of 72.5%, 75.8%, and 86.3%, and areas under the ROC curve (AUCs) of 0.82, 0.81, and 0.88. The combined measurement showed significantly higher specificity and AUC than single measurement (P < 0.05). Conclusions Children with NEC have significant increases in I-FABP and FC levels, and there is a correlation between them. Combined measurement of I-FABP and FC can increase the specificity of the diagnosis of NEC.

2016 Vol. 18 (11): 1080-1083 [Abstract] ( 5059 ) [HTML 1KB] [PDF 1267KB] ( 945 )
1084 WANG Zheng, LI Li, LEI Xue-Ya, XUE Jin, MI Hong-Ying
Effect of advanced maternal age on birth defects and postnatal complications of neonates

Objective To investigate the effect of advanced maternal age on birth defects and postnatal complications of neonates. Methods Among the 1 109 neonates who were born at The First People's Hospital of Yunnan Province between January 2014 and December 2015, 536 neonates whose mothers were aged≥35 years were enrolled as advanced age group and 573 neonates whose mothers were aged <35 years were enrolled as appropriateage group. The incidences of the comorbidities in pregnancy, fetal intrauterine distress, neonatal birth defects, and postnatal complications were compared between the two groups. A univariate logistic regression analysis was performed to analyze the effect of advanced maternal age on neonatal comorbidities during perinatal period. Results Compared with the appropriate-age group, the advanced age group had significantly higher rate of caesarean section and incidence rates of multiple birth, gestational diabetes, pregnancy-induced hypertension, in vitro fertilization, and fetal intrauterine distress (P < 0.01). The neonates in the advanced age group had a significantly higher incidence rate of cleft lip and palate and a significantly lower rate of skeletal dysplasia than in the appropriate-age group (P < 0.05). Advanced maternal age was the risk factor for fetal intrauterine distress (OR=2.27, 95%CI:1.33-3.88, P=0.003), neonatal resuscitation (OR=1.66, 95%CI:1.19-2.31, P=0.003), and intracranial hemorrhage (OR=2.70, 95%CI:1.21-6.04, P=0.02). Conclusions The women of maternal advanced age have higher incidence rates of pregnancy comorbidities than those of appropriate age, and the neonates born to the mothers of advanced maternal age have a higher incidence rate of cleft lip and palate. Advanced maternal age may increase the risks of fetal intrauterine distress, neonatal resuscitation, and intracranial hemorrhage.

2016 Vol. 18 (11): 1084-1089 [Abstract] ( 4808 ) [HTML 1KB] [PDF 1332KB] ( 1488 )
1090 QIAN Sheng-Hua, WANG Xiao-Hua, ZHANG Li
Association between wheezing and Mycoplasma pneumoniae infection in infants and young children

Objective To study the association between wheezing and Mycoplasma pneumoniae (MP) infection in infants and young children. Methods A total of 228 hospitalized infants and young children who were diagnosed with lower respiratory tract infection were enrolled and classified into initial wheezing group (n=65), recurrent wheezing group (n=83), and non-wheezing group (n=80). Fasting serum was collected on the day or the second day of admission. ELISA was used to measure MP-IgM, chemiluminescence was used to measure serum total immunoglobulin E (TIgE), and EUROLine was used to measure the common serum allergen specific immunoglobulin E (sIgE). The data on the manifestations of atopic constitution and the family history of allergic diseases were collected. Results The initial wheezing group and the recurrent wheezing group showed significantly higher positive MP infection rate and serum TIgE level than the non-wheezing group (P < 0.05). The recurrent wheezing group showed a significantly higher positive rate of sIgE than the initial wheezing group and the non-wheezing group (P < 0.05), and in these patients, the manifestations of atopic constitution and the family history of allergic diseases were closed associated with the pathogenesis of wheezing. Conclusions MP infection is closely associated with wheezing in infants and young children. MP is one of the most common pathogens for wheezing in infants and young children, and the allergen sIgE, atopic constitution, and a family history of allergic diseases are important risk factors for recurrent wheezing.

2016 Vol. 18 (11): 1090-1093 [Abstract] ( 5304 ) [HTML 1KB] [PDF 1195KB] ( 1149 )
1094 LI Li, JI Wei, SHAO Xue-Jun, XU Jun, JIANG Wu-Jun, CHEN Zheng-Rong, TANG Ru-Ze, YAN Yong-Dong
An epidemiological study on human rhinovirus C in hospitalized children with respiratory tract infections

Objective To investigate the detection rates, epidemical characteristics, and clinical features of human rhinovirus C (HRV-C) in hospitalized children with respiratory tract infections (RTIs) in Suzhou, China. Methods A total of 1 702 hospitalized children with RTIs from January to December, 2014 were enrolled, and 1 702 nasopharyngeal aspirate samples were collected from all children. RT-PCR was used to measure HRV mRNA, and quantitative realtime PCR combined with high-resolution melting curve was used to measure HRV-C. Results Of all children, 244 (14.34%) were detected to have HRV infection, among whom 69 (69/244, 28.3%) had HRV-C infection. The rate of mixed infection of HRV-C with other viruses and bacteria was 61% (42/69). HRV-C was detected in each month of the year, and the detection rate of HRV-C in autumn was significantly higher than that in spring, summer, and winter (P < 0.05). The children aged 2-5 years had a significantly higher detection rate of HRV-C than those in the other age groups (P < 0.05). Compared with HRV-A/B infection, HRV-C infection led to significantly higher proportions of patients with lobar pneumonia and acute exacerbation of asthma (P < 0.05), as well as patients with increased neutrophil count and CRP level (P < 0.05). There were no significant differences in sex distribution or other clinical manifestations (P > 0.05). Conclusions HRV-C infection accounts for about 1/3 of HRV infection, with a high incidence rate in autumn. The rate of mixed infection of HRV-C with other viruses and bacteria is high, and children aged 2-5 years have the highest detection rate of HRV-C. Children with HRV-C infection have similar clinical manifestations as those with HRV-A/B infection.

2016 Vol. 18 (11): 1094-1099 [Abstract] ( 4816 ) [HTML 1KB] [PDF 1373KB] ( 1026 )
1100 WEI Yan, LI Dong-Sheng, LIU Jian-Jun, ZHANG Jing, ZHAO Hai-En
Therapeutic effect and safety of montelukast sodium combined with budesonide in children with cough variant asthma: a Meta analysis

Objective To evaluate the therapeutic effect and safety of montelukast sodium combined with budesonide in children with cough variant asthma. Methods The databases CNKI, Wanfang Data, VIP, PubMed, EMbase, and BioMed Central were searched for randomized controlled trials (RCTs) of montelukast sodium combined with budesonide in the treatment of children with cough variant asthma. Data extraction and quality assessment were performed for RCTs which met the inclusion criteria, and RevMan 5.3 software was used to perform quality assessment of the articles included and Meta analysis. Results A total of 11 RCTs involving 1 097 patients were included. The results of the Meta analysis showed that compared with the control group (inhalation of budesonide alone), the observation group (inhalation of montelukast sodium combined with budesonide) had significantly higher overall response rate and more improved pulmonary function parameters including forced expiratory volume in the first second, percentage of forced expiratory volume in the first second, and peak expiratory flow, as well as significantly lower recurrence rate (P < 0.01). The incidence of adverse events showed no significant difference between the two groups. Conclusions Inhalation of montelukast sodium combined with budesonide has a significant effect in children with cough variant asthma and does not increase the incidence of adverse events.

2016 Vol. 18 (11): 1100-1105 [Abstract] ( 5625 ) [HTML 1KB] [PDF 1556KB] ( 1534 )
1106 REN Jin-Song, SUN Hao-Miao, ZHANG Lei, LIN Jing-De, WEN Cheng, FANG Dai-Hua
Expression of vasoactive intestinal peptide in peripheral blood of children with hand, foot and mouth disease

Objective To investigate the expression of vasoactive intestinal peptide (VIP) in peripheral blood of children with hand, foot and mouth disease and its significance. Methods According to the condition of the disease, 86 children with hand, foot and mouth disease were classified into phase 1 group (19 children) and phase 2 group (67 children). ELISA was used to measure the concentrations of plasma VIP, interferon-γ (IFN-γ), and interleukin-4 (IL-4) in peripheral blood. Flow cytometry was used to measure CD3+, CD4+, and CD8+ T lymphocyte subsets. RT-PCR was used for qualitative detection of enterovirus 71 (EV71) RNA in stool. Results Compared with the phase 1 group, the phase 2 group had a significantly higher positive rate of EV71-RNA (P < 0.05) and significantly higher serum levels of IgG, IgA, IgM, and C3 (P < 0.05). The phase 2 group had significantly lower proportions of peripheral CD3+, CD4+, and CD8+ T lymphocyte subsets than the phase 1 group (P < 0.05), as well as significantly lower proportion of peripheral B cells and CD4+/CD8+ ratio than the phase 1 group (P < 0.05). The phase 2 group also had a significantly lower concentration of VIP in peripheral blood than the phase 1 group (P < 0.05). In the 86 children with hand, foot and mouth disease, the concentration of VIP in peripheral blood was positively correlated with the proportion of CD4+ T lymphocyte subset and CD4+/CD8+ ratio (r=0.533 and 0.532 respectively; P < 0.05). Conclusions VIP may be an important marker of the severity of hand, foot and mouth disease.

2016 Vol. 18 (11): 1106-1110 [Abstract] ( 4326 ) [HTML 1KB] [PDF 1455KB] ( 812 )
1111 PENG Chang, LUO Yue-Jing, XING Qian-Lu, XIAO Ming-Chen
Clinical features of children with incomplete Kawasaki disease

Objective To investigate the clinical features of children with incomplete Kawasaki disease (IKD), and to provide reference for the early diagnosis of IKD. Methods The clinical data of 22 hospitalized children with IKD were analyzed retrospectively and compared with the data of 63 children with Kawasaki disease (KD) who were hospitalized during the same period of time. Another 20 children with pyrexia were enrolled as the control group. Results Pyrexia was observed in all children. Compared with the KD group, the IKD group had significantly lower proportions of children with changes in the limbs, conjunctival hyperaemia, and cervical lymphadenectasis (P < 0.05), a significantly higher serum level of glutamic-pyruvic transaminase (P < 0.05), and significantly lower levels of plasma albumin, serum sodium, and interleukin-6 (P < 0.05). There was no significant difference in the rate of γ-globulin application between the IKD and KD groups; however, the IKD group had a significantly higher incidence rate of coronary artery lesion than the KD group (P < 0.05). Conclusions The symptoms and signs in children with IKD are untypical. The liver function test and serum hyponatremia and IL-6 measurements may be useful for the diagnosis of IKD.

2016 Vol. 18 (11): 1111-1114 [Abstract] ( 4614 ) [HTML 1KB] [PDF 1299KB] ( 1154 )
1115 ZHENG Xiao-Fei, CHEN Jin-Jin
Evaluation of intellectual development level of 300 children with language disorder

Objective To investigate the features of intellectual development in children with language disorder. Methods The developmental quotients (DQs) of motor, object, language and social abilities were evaluated in 300 children with language disorder by Gesell Developmental Schedules. Results All the 300 children had normal mean DQs of motor ability and lower mean DQs of object, language, and social abilities. Of all children, 31.0% had abnormal motor ability, 49.0% had abnormal object ability, and 52.7% had abnormal social ability. The DQ of language ability was significantly positively correlated with the DQs of the other three abilities (r=0.506, 0.644, and 0.711 respectively, P < 0.01). Conclusions Children with language disorder may have abnormal motor ability, adaptive behavior, and personal-social behavior. Diagnostic intellectual development evaluation and comprehensive intervention for other developmental abnormalities should be performed for these children.

2016 Vol. 18 (11): 1115-1118 [Abstract] ( 4217 ) [HTML 1KB] [PDF 1414KB] ( 969 )
1119 LIU Wei-Xiao, LANG Jun-Feng, ZHANG Qin-Feng
Risk factors for anorexia in children

Objective To investigate the risk factors for anorexia in children, and to reduce the prevalence of anorexia in children. Methods A questionnaire survey and a case-control study were used to collect the general information of 150 children with anorexia (case group) and 150 normal children (control group). Univariate analysis and multivariate logistic stepwise regression analysis were performed to identify the risk factors for anorexia in children. Results The results of the univariate analysis showed significant differences between the case and control groups in the age in months when supplementary food were added, feeding pattern, whether they liked meat, vegetables and salty food, whether they often took snacks and beverages, whether they liked to play while eating, and whether their parents asked them to eat food on time (P < 0.05). The results of the multivariate logistic regression analysis showed that late addition of supplementary food (OR=5.408), high frequency of taking snacks and/or drinks (OR=11.813), and eating while playing (OR=6.654) were major risk factors for anorexia in children. Liking of meat (OR=0.093) and vegetables (OR=0.272) and eating on time required by parents (OR=0.079) were protective factors against anorexia in children. Conclusions Timely addition of supplementary food, a proper diet, and development of children's proper eating and living habits can reduce the incidence of anorexia in children.

2016 Vol. 18 (11): 1119-1122 [Abstract] ( 4585 ) [HTML 1KB] [PDF 1390KB] ( 1091 )
1123 YANG Xiao, PENG Wei, ZHU Li-Na, ZHANG Xiao-Ai, WANG Yan
Association between interleukin-1β C+3953T and genetic susceptibility to spontaneous preterm birth: a case-control study

Objective To study the association between interleukin-1β (IL-1β) C+3953T and genetic susceptibility to spontaneous preterm birth (SPTB). Methods In this case-control study, 753 SPTB neonates were enrolled in the case group and 681 full-term neonates were enrolled in the control group. The latest Sequenom MassARRAY®SNP detection technique was used for the typing of single nucleotide polymorphisms (SNP) of IL-1β C+3953T. Results Compared with those carrying CC genotype of IL-1β C+3953T, the neonates who carried at least one T allele (CT+TT genotype) had significantly increased risks of SPTB, SPTB complicated by premature rupture of membranes, and mild preterm birth. Conclusions In the Chinese population, IL-1β C+3953T has significant genetic association with an increased risk of SPTB. The identification of this SNP helps to prevent SPTB and clarify the causes and pathogenesis of SPTB.

2016 Vol. 18 (11): 1123-1129 [Abstract] ( 3734 ) [HTML 1KB] [PDF 1738KB] ( 896 )
1130 CHENG Ying, ZHAO Shu-Tao, GUO Li, DENG Mei, ZHOU Qing, SONG Yuan-Zong
Identification of a novel JAG1 mutation in a family affected by Alagille syndrome

Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible. The two lungs were clear on auscultation, but a systolic cardiac murmur of grade 2/6 could be heard between the 2nd and 3rd intercostal space at the left sternal border. Neither abdominal distension nor enlarged liver or spleen was discovered. X-ray radiography uncovered butterfly malformation of the 6th and 8th thoracic vertebrae. Serum biochemistry analysis revealed elevation of total bile acids, bilirubin and transaminases. Based on the clinical characteristics and the consultation opinion of the ophthalmologist, the child was diagnosed to have ALGS with Duane retraction syndrome. DNA direct sequencing detected a novel JAG1 mutation c.2419delG (p.Glu807AsnfsX819) in the child. Symptomatic and supportive therapy was performed thereafter and clinical follow-up was conducted until he was 4 years and 2 months. In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed.

2016 Vol. 18 (11): 1130-1135 [Abstract] ( 4055 ) [HTML 1KB] [PDF 1975KB] ( 989 )
1136 HUANG Ji-Wei, TANG Ning, LI Wu-Gao, LI Zhe-Tao, LUO Shi-Qiang, LI Jing-Wen, HUANG Jun, YAN Ti-Zhen
Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis

X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe amplification (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygotes in STS deletion. Gene microarray identified a rare deletion with a size of 1.6 Mb at Xp22.31 (chrX:6,516,735-8,131,442). Two female family members were found to be carriers. Prenatal diagnosis showed that the fetus carried by the proband's mother was a carrier of this microdeletion. This study showed STS gene deletion in this family of XLI, which causes the unique skin lesions of XLI. MLPA is a convenient and reliable technique for the molecular and prenatal diagnosis of XLI.

2016 Vol. 18 (11): 1136-1140 [Abstract] ( 4821 ) [HTML 1KB] [PDF 1857KB] ( 1076 )
1141 QIAO Wen-Xing, LIU Li
A gene study of a family with hidrotic ectodermal dysplasia

Objective To investigate the clinical features and molecular mechanism of hidrotic ectodermal dysplasia (HED). Methods A clinical and gene study was performed for five generations (91 people) in the family of one proband with HED. GJB6 gene detection was performed for 7 patients and 3 normal people in this family. Results Among the 91 people in this family, there were 17 HED patients, who were manifested as having dysplasia of the fingernails and toenails and sparse or absent hair or body hair. The male patients had a greater degree of sparse hair compared with female patients. In the younger generations, damage to the fingernails and toenails was gradually alleviated. There were patients in each generation, the patient's mother or father definitely had this disease. Both males and females developed this disease, and the inheritance pattern was autosomal dominant inheritance. A heterozygous missense mutation, 31G→A, in GJB6 gene was detected in all patients in this family, but this mutation was not detected in family members without the clinical manifestations of HED. Conclusions HED is a hereditary disease with autosomal dominant inheritance and has the clinical features of dysplasia of the fingernails and toenails, hyperkeratosis of palms and soles, and sparse or absent hair or body hair. Male patients have a greater degree of sparse hair. In the younger generations, damage to the fingernails and toenails is gradually alleviated. The missense mutation 31G→A in the GJB6 gene may be one of the molecular mechanisms for HED.

2016 Vol. 18 (11): 1141-1144 [Abstract] ( 3753 ) [HTML 1KB] [PDF 1860KB] ( 892 )
1074
2016 Vol. 18 (11): 1074-1074 [Abstract] ( 1862 ) [HTML KB] [PDF 996KB] ( 819 )
1079
2016 Vol. 18 (11): 1079-1079 [Abstract] ( 1785 ) [HTML KB] [PDF 845KB] ( 490 )
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2016 Vol. 18 (11): 1093-1093 [Abstract] ( 1799 ) [HTML KB] [PDF 855KB] ( 473 )
CASE ANALYSIS
1145 LIU Dan, ZHONG Li-Li, LI Yun, CHEN Min
Recurrent fever, hepatosplenomegaly and eosinophilia in a boy

A 2-year-old boy was admitted into the hospital because of cough and fever. Lymph node tuberculosis was noted when he was 2 months old and he was subsequently hospitalized several times because of cough and fever. After hospitalization the laboratory examination showed an increased eosinophia level in blood. The immune function tests shows decreased levels of IgG, IgA, and IgM. The patient had no response to anti-tuberculosis, anti-bacterial, and anti-fungal treatment, resulting in recurrent fever and progressive enlargement of the liver and spleen. Jam-like stools were noted 35 days after admission. B ultrasonography showed suspected intussusception. Laparotomy, reduction of intussusception and ileocecum angioplasty, biopsies of intestinal wall nodules and lymphoglandulae mesentericae, and hepatic biopsy were then performed under general anesthesia. The patient eventually died because of postoperative severe liver damage, disseminated intravascular coagulation and electrolyte disorder. Both the blood culture and hepatic biopsy tests showed Penicillium marneffei infecton. Immunodeficiency gene test was performed on the patient, his bother and their parents. T→G base substitution mutation (IVS1-3 T→G) in the CD40L gene was found in the patient. X-linked hyper-IgM syndrome was thus diagnosed in the patient. His mother was a carrier of the mutated CD40L gene, but his father was normal in the gene test. Hemizygous mutation in the CD40L gene was found in both the patient and his bother.

2016 Vol. 18 (11): 1145-1149 [Abstract] ( 4466 ) [HTML 1KB] [PDF 1756KB] ( 1099 )
1150 TAN Jian-Qiang, CHEN Da-Yu, MO Zhen-Qin, LI Zhe-Tao, HUANG Ji-Wei, CAI Ren, YAN Ti-Zhen
Pancytopenia and metabolic decompensation in a neonate

A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level. The organic acid analysis of urine by gas chromatography-mass spectrometry showed significantly increased levels in isovaleryl glycine and 3-hydroxyisovaleric acid. Homozygous mutations (c.1208A > G, p.Tyr403Cys) in the IVD gene were identified in the patient. His parents were heterozygous carriers. After the treatment with low-leucine diets and L-carnitine for 3 days, the patient showed a significant improvement in symptoms, but he died one week later. It is concluded that the neonates with pneumonia and metabolic decompensation of unknown etiology should be screened for genetic metabolic disease.

2016 Vol. 18 (11): 1150-1153 [Abstract] ( 4339 ) [HTML 1KB] [PDF 1472KB] ( 922 )
1154 LUO Yang-Yang, WEI Zhu, ZENG Ying-Hong, ZHOU Bin, TANG Jian-Ping
Unexpected cutaneous purpura in an infant

A two-month-old boy visited the hospital due to unexpected cutaneous purpura and thrombocytopenia for 2 days. The physical examination revealed a purple mass on the back. The soft tissue color Doppler ultrasound showed rich blood signals in the tissue, and the results of bone marrow puncture indicated an increased number of megakaryocytes. After the treatment with hormone and gamma globulin, the platelet count rapidly increased and maintained at a normal level. Meanwhile, the boy was given oral administration of propranolol. He was followed up for 4 months and the volume of the mass on the back was reduced significantly. He had a definite diagnosis of hemangioma and immune thrombocytopenia. As for the patients with hemangioma complicated by thrombocytopenia, knowledge of Kasabach-Merritt syndrome should be enhanced and there should be a clarification of the association between thrombocytopenia and hemangioma. There should also be an alertness for thrombocytopenia of other causes.

2016 Vol. 18 (11): 1154-1157 [Abstract] ( 3826 ) [HTML 1KB] [PDF 1466KB] ( 844 )
EXPERIMENTAL RESEARCH
1158 LI Xiang-Wen, LI Fang, LIU Jing, WANG Yan, FU Wei
Effect of antepartum taurine supplementation in regulating the activity of Rho family factors and promoting the proliferation of neural stem cells in neonatal rats with fetal growth restriction

Objective To study the possible effect of antepartum taurine supplementation in regulating the activity of Rho family factors and promoting the proliferation of neural stem cells in neonatal rats with fetal growth restriction (FGR), and to provide a basis for antepartum taurine supplementation to promote brain development in children with FGR. Methods A total of 24 pregnant Sprague-Dawley rats were randomly divided into three groups:control, FGR, and taurine (n=8 each). A rat model of FGR was established by food restriction throughout pregnancy. RT-PCR, immunohistochemistry, and Western blot were used to measure the expression of the specific intracellular markers for neural stem cells fatty acid binding protein 7 (FABP7), Rho-associated coiled-coil containing protein kinase 2 (ROCK2), ras homolog gene family, member A (RhoA), and Ras-related C3 botulinum toxin substrate (Rac). Results The FGR group had significantly lower OD value of FABP7-positive cells and mRNA and protein expression of FABP7 than the control group, and the taurine group had significantly higher OD value of FABP7-positive cells and mRNA and protein expression of FABP7 than the FGR group (P < 0.05). The FGR group had significantly higher mRNA expression of RhoA and ROCK2 than the control group. The taurine group had significantly higher mRNA expression of RhoA and ROCK2 than the control group and significantly lower expression than the FGR group (P < 0.05). The FGR group had significantly lower mRNA expression of Rac than the control group. The taurine group had significantly higher mRNA expression of Rac than the FGR and control groups (P < 0.05). The FGR group had significantly higher protein expression of RhoA and ROCK2 than the control group. The taurine group had significantly lower protein expression of RhoA and ROCK2 than the FGR group (P < 0.05). Conclusions Antepartum taurine supplementation can promote the proliferation of neural stem cells in rats with FGR, and its mechanism may be related to the regulation of the activity of Rho family factors.

2016 Vol. 18 (11): 1158-1165 [Abstract] ( 4327 ) [HTML 1KB] [PDF 2121KB] ( 859 )
1166 MENG Xin, WANG Shou-Chuan, SHAN Jin-Jun, XIE Tong, XU Jian-Ya, SHEN Cun-Si
Effect of respiratory syncytial virus-related pulmonary infection on endogenous metabolites in large intestinal mucosa in mice

Objective To investigate the effect of respiratory syncytial virus (RSV)-related pulmonary infection on endogenous metabolites in large intestinal mucosa in BALB/c mice using metabolomics technology based on gas chromatography-mass spectrometry (GC-MS). Methods Mice were randomly divided into a control group and a RSV pneumonia model group (n=16 each). The mouse model of RSV pneumonia was established using intranasal RSV infection (100×TCID50, 50 μL/mouse, once a day). After 7 days of intranasal RSV infection, the mice were sacrificed and GC-MS was used to identify endogenous metabolites and measure the changes in their relative content in colon tissue. SMCA-P12.0 software was used to perform principal component analysis (PCA) and orthogonal partial least squaresdiscriminant analysis (OPLS-DA) for endogenous metabolites in colon tissue. The differentially expressed metabolites in colon tissue were imported into the metabolic pathway platform Metaboanalyst to analyze related metabolic pathways. Results PCA and OPLS-DA showed significant differences between the control and RSV pneumonia model groups. A total of 32 metabolites were identified in the colon tissue of the mice with RSV pneumonia. The RSV pneumonia model group had significant increases in the content of leucine, isoleucine, glycine, alanine, arachidonic acid, and lactic acid, which were related to the valine, leucine, isoleucine, arachidonic acid, and pyruvic acid metabolic pathways. Conclusions RSV pneumonia might cause metabolic disorders in the large intestinal tissue in mice.

2016 Vol. 18 (11): 1166-1173 [Abstract] ( 4122 ) [HTML 1KB] [PDF 2730KB] ( 794 )
1174 LI Li, LOU Chun-Yan, LI Min, ZHANG Jian-Bo, CHEN Jie
Effect of montelukast sodium intervention on airway remodeling and percentage of Th17 cells/CD4+CD25+ regulatory T cells in asthmatic mice

Objective To study the dynamic changes in the percentage of Th17 cells/CD4+CD25+ regulatory T cells after intervention with montelukast sodium, a leukotriene receptor antagonist, in asthmatic mice and the association between them. Methods Balb/c mice were randomly divided into blank group, asthma group, and montelukast sodium group. The asthmatic mouse model of airway remodeling was established by sensitization with intraperitoneal injection of chicken ovalbumin (OVA) and aluminum hydroxide suspension and aerosol inhalation of OVA. The mice in the blank group were given normal saline, and those in the montelukast sodium group were given montelukast sodium by gavage before aerosol inhalation. Eight mice were randomly sacrificed within 24 hours after 2, 4, and 8 weeks of aerosol inhalation. The pathological sections of lung tissue were used to observe the degree of airway remodeling. Flow cytometry was used to measure the percentages of Th17 cells and CD4+CD25+ regulatory T cells in CD4+ T cells. Results The asthma group and the montelukast sodium group had significantly higher bronchial wall thickness and smooth muscle thickness at all time points compared with the blank group (P < 0.05). At 8 weeks of intervention, the montelukast sodium group had significantly greater improvements in the above changes compared with the asthma group (P < 0.05). Compared with the blank group, the asthma group and the montelukast sodium group had significant increases in Th17 cells (positively correlated with airway remodeling) and significant reductions in CD4+CD25+ regulatory T cells (negatively correlated to airway remodeling) at all time points (P < 0.05). At 8 weeks of intervention, the montelukast sodium group had a significant reduction in the number of Th17 cells and a significant increase in the number of CD4+CD25+ regulatory T cells compared with the asthma group (P < 0.05). Conclusions Montelukast sodium intervention can alleviate airway remodeling and achieve better improvements over the time of intervention. The possible mechanism may be related to the improvement of immunologic derangement of CD4+CD25+ regulatory T cells and inhibition of airway inflammation.

2016 Vol. 18 (11): 1174-1180 [Abstract] ( 4045 ) [HTML 1KB] [PDF 3083KB] ( 882 )
CASE REPORT
1181 LV Yuan, ZHU Ling-Ling, SHU Gui-Hua
A case report of neonatal complex chromosomal aberration

No abstract available

2016 Vol. 18 (11): 1181-1182 [Abstract] ( 2859 ) [HTML 1KB] [PDF 1167KB] ( 726 )
REVIEW
1183 ZHAO Feng-Yan, QU Yi
Long non-coding RNAs and hypoxic-ischemic brain damage

Long non-coding RNAs (lncRNAs) are transcripts with a complex structure and a length of > 200 nt which are unable to encode proteins. The lncRNAs interact with DNA, mRNA, and proteins and regulate gene expression through various mechanisms, thus participating in the regulation of various biological processes. Studies have shown that lncRNAs play important roles in neural development and the pathogenesis of diseases. This article reviews the roles of lncRNAs in hypoxic-ischemic brain damage.

2016 Vol. 18 (11): 1183-1187 [Abstract] ( 4063 ) [HTML 1KB] [PDF 1723KB] ( 1006 )
1188 WANG Hui-Hui, WEN Fei-Qiu, WEI Ju-Rong
Research advances in the relationship between childhood malnutrition and gut microbiota

Objective Childhood malnutrition is an important disease threatening healthy growth of children worldwide. Gut microbiota has close links to food digestion, absorption and intestinal function. Current research considers that alterations in gut microbiota have been strongly implicated in childhood malnutrition. This review article addresses the latest understanding and evidence of interrelationship between gut microbiota and individual nutrition status, the changes of gut microbiota in different types of malnutrition, and the attribution of gut microbiota in the treatment and prognosis of malnutrition. It provides in depth understanding of childhood malnutrition from the perspective of microbiome.

2016 Vol. 18 (11): 1188-1193 [Abstract] ( 5298 ) [HTML 1KB] [PDF 1638KB] ( 1405 )
1194 YANG Juan, ZHANG Bi-Li
Advances in clinical research on C1q nephropathy

C1q nephropathy is a rare type of glomerulonephritis manifested as the deposition of C1q in the glomerular mesangium during immunofluorescent staining. Systemic lupus erythematosus and type I membranoproliferative glomerulonephropathy need to be excluded in the diagnosis of C1q nephropathy. C1q nephropathy has various manifestations under a light microscope, mainly including minimal change disease, focal segmental glomerulosclerosis, and proliferative glomerulonephritis. This disease is mainly manifested as persistent proteinuria or nephrotic syndrome and occurs more frequently in boys. Currently, glucocorticoids are mainly used for the treatment of this disease. Patients with C1q nephropathy show a good response to immunosuppressant treatment, but have a high rate of glucocorticoid resistance. Therefore, in this case, methylprednisolone pulse therapy or a combination with immunosuppressant treatment helps to achieve a good prognosis.

2016 Vol. 18 (11): 1194-1198 [Abstract] ( 4952 ) [HTML 1KB] [PDF 1544KB] ( 1097 )
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