Objective To analyze the clinical characteristics and etiology diagnosis of bacterial meningitis from 2001 to 2012 in Children′s Hospital of Fudan University.Methods Clinical and pathogenic data were analyzed retrospectively based on the inpatients with pathogens identified bacterial meningitis during 12 years.Results In total, 146 pathogen-identified cases from 570 pediatric patients with bacterial meningitis in the last 12 years were analyzed in this study. These cases were classified into four groups: 58 neonates, 36 patients aged 28 d-1 years, 20 patients aged 1-3 years and 32 patients aged >3 years. ①The symptoms of neonates were atypical. Sixteen patients (50%) aged >3 years were associated with traumatic brain injury, tumor and craniofacial or spinal abnormal anatomy. ②G+ accounted for 54.8%(80/146) and G- accounted for 45.2%(66/146). The main G+ bacteria included Coagulase negative Staphylococcus (22.6%), Enterococcus (13.0%), Streptococcus pneumonia (8.2%). The main G- bacteria included Escherichia coli (20.5%), Acinetobacter baumannii (6.8%).③All the G+ bacteria were sensitive to vancomycin and linezolid. All G- bacteria were sensitive to meropenem, except 3 of 10 cases with Acinetobacter baumannii and 1 of 3 cases with Pseudomonas aeruginosa strains. The proportions of ESBLs+ in Escherichia coli, Klebsiella and Enterobacter cloacae were 66.7%, 60% and 100%. ④ There were 43.2% (63/146) cases with acute complications. The most common complications included subdural effusion(26 cases), hydrocephalus(20 cases) and focal neurological lesion(13 cases). The main pathogens were Escherichia coli(15/30), Coagulase negative Staphylococcus（14/33）, Streptococcus pneumonia(6/12) and Acinetobacter baumannii(6/10). ⑤31 patients (21.2%) died or gave up treatment, of them 41.7% (5/12) were Streptococcus pneumonia.Conclusions The signs and symptoms were atypical in neonates. Anatomy abnormalities should be paid more attention to children older than 3 years. The sensitive antibiotics could be chosen according to the distribution of pathogen and antibiotic susceptibility. The meningitis patients with Streptococcus pneumonia had poor prognosis.
Objective To study the morbidity, anatomic malformation, diagnosis and management of aortopulmonary window (APW).Methods The records of 25 patients with APW, aged 5 days to 13 years were reviewed. Results Fourteen cases were male and 11 cases were female, and 12 cases were under 6 months. Windows were situated in the proximal of the semilunar valve (type Ⅰ) in 4 cases (16%), and distal of the aorta (type Ⅱ) in 17 cases (64%), from proximal to distal (type Ⅲ) in only 1 case (4%). Three cases were associated with interruption of the aortic arch (IAA)(type Ⅴ). About half patients (52%) were isolated APW (10 cases) or APW only associated with patent foramen ovale (4 cases), while the other half were associated with cardiac defects, including atrial septal defects (ASD) in 1 case, patent ductus arterious (PDA) in 2 cases, ventricular septal defect (VSD) in 3 cases, double outlet right ventricle (DORV) and ASD in 1 case, aortic stenosis and right aortic arch in 1 case, pulmonary atresia with VSD and right aortic arch, persistent left superior vena cava in 1 case, IAA and PDA in 3 cases. Seventeen cases were diagnosed by echocardiography. However, echocardiography failed in diagnosis of APW in 8 cases (32%), which was further diagnosed by angiogram in 4 cases, by surgery in 3 cases. All patients had varied degree pulmonary hypertension and 2 older patients were evaluated as pulmonary vascular obstructive disease without indictions for surgery. The parents of 4 patients refused further management. The rest of 19 patients underwent surgical repair and 2 died (10.5%) because of severe associated cardiac anomaly. Three months to 9 years follow-up showed good outcomes including well-doing clinically and satisfactory echocardiography. The pulmonary hypertension was gradually recovered.Conclusions Most APW are in the distal of the aorta, and about half of the patients are associated with septal defects, PDA, IAA, DORV and PA/VSD. Echocardiography is the preferred method for diagnosis; however, ECHO has a relatively high misdiagnosing rate in this type malformation, further investigations such as cardiac catheterization and angiography are needed, especially in those older patients with pulmonary vascular disease. Surgical repair should be considered as soon as APW is diagnosed even in neonate stage, and has a good prognosis in mid-to-long term follow-up.
Objective To investigate the prevalence rate of childhood nocturnal enuresis in China and its association with quality of life.Methods Multilevel clustering random sampling was used in this nation-wide large-scale epidemiological investigation. Totally 23 791 children were recruited from 6 grades of each primary school, among them 21 755 children′s data were finally analyzed because their questionnaires met the standards of quality control. This study was part of Chinese Children′s Sleep Study. The questionnaires used in this study included the demographic status, sleep status and quality of life. If a child wetting his/her bed more than twice weekly nocturnal enuresis would be verified according to DSM-Ⅳ. A descriptive analysis was firstly applied to calculate the prevalence rate of enuresis in primary-school children in China by city, sex, grade, etc. Nocturnal enuresis was set as dependent variable and the items in the quality of life questionnaire as independent variables. A logistic regression equation was built to determine the relationship between nocturnal enuresis and each item in the quality of life questionnaire.Results The prevalence rate of nocturnal enuresis was 4.6% in primary-school children of China. The highest prevalence rate was 7.4% (Wuhan), whereas Shanghai presented the lowest prevalence rate 3.3%. Boys were more of enuresis than girls, the ratio was 1.51. A positive relationship was shown between enuresis and often being criticized, etc, and a negative relationship between enuresis and usually having many good friends, etc. Conclusions The prevalence of nocturnal enuresis in China is similar to that in America. Nocturnal enuresis is associated with the lower children′s quality of life.
Objective To evaluate the differences of iodine levels in environment between endemic and normal areas, in patients with Kaschin-Beck disease and health people using systematic review method.Methods Chinese Journal Full-text Database, Chinese Biomedical Literature Database, Chinese scientific journals full-text Database, China academic journal network publishing database, Wanfang Database，PubMed, Cochrane Library, EMBASE, and ISI Web of knowledge were searched from establishment of database to April 2013. The comparative studies about the differences of iodine levels in environment (soil, water, and cereal) between endemic and normal areas and the differences of blood, urine, and hair iodine levels, thyroxine, triiodothyronine, thyrotropin in patients with Kaschin-Beck disease and healthy people were included. Data were analyzed using RevMan 5.10 software that recommended by the Cochrane Collaboration.Results Six studies were included. The results of meta-analysis showed that there were no differences in water iodine levels (SMD=0.32, 95%CI: -0.70 to 1.34) and cereal iodine levels (MD＝-128.21, 95%CI:-288.17 to -31.74) between endemic and normal areas. And there were no differences in urinary iodine (SMD=-0.01, 95%CI: -0.25 to 0.24）, serum TT3 (SMD=0.49, 95%CI: -0.20 to 1.19), serum TT4 (SMD=0.31, 95%CI -0.24 to 0.85) and serum TSH levels (SMD=-0.35, 95%CI:-1.04 to 0.35) between Kaschin-Beck disease patients and healthy people. The serum FT3 (SMD=1.93, 95%CI: 0.80 to 3.07) and FT4 (SMD=2.13, 95%CI: 0.67 to 3.59) levels in patients with Kaschin-Beck disease were higher than those in healthy people. However, there were no differences in urinary iodine (SMD=-21.60, 95%CI: -118.37 to 75.17), serum FT3 (SMD=0.54, 95%CI: -0.53 to 1.61), TT3 (SMD=0.50, 95%CI: -0.46 to 1.47), TT4 (SMD=0.80, 95%CI: -0.22 to 1.81) or TSH (SMD=-0.35, 95%CI: -2.43 to 1.72) between healthy people in endemic area and those in normal area.Conclusions Current evidence indicated that there was no clearly relationship between iodine and Kaschin-Beck disease. There may be abnormal metabolism of thyroxine in Kaschin-Beck disease patients.
Objective To study vitamin D status of infants and toddlers hospitalized in Lanzhou and its relative factors in order to offer the evidence for supplying vitamin D reasonably.MethodsThe level of serum 25-(OH)D was determined as an indicator of the vitamin D status. Serum 25-(OH)D levels were measured by liquid chromatography-tandem mass spectrometry (LC-MS-MS). Inpatient infants and toddlers aged 1 to 36 months were recruited in Lanzhou (36°03 N latitude). Vitamin D External Quality Assessment Scheme（DEQAS） was used to detect the bias of 25-(OH)D test in our laboratory. The prevalence of vitamin D deficiency was based on the proposed definition of <20 ng·mL-1. Logistic regression was used to analyze potential relative factors of vitamin D deficiency surveyed by a questionnaire.ResultsTotal of 374 inpatient infants were enrolled into the study, including 227 males and 147 females. ①The average levels of serum 25-(OH)D of subjects were（30.40±14.88）ng·mL-1. Serum 25-(OH)D deficiency was found in 19.5% infants and toddlers. There were still 10.2% infants and toddlers with vitamin D deficiency even though they had taken vitamin D supplements recently. ②25-(OH)D levels varied with season(P=0.04).Vitamin D levels were the lowest in spring, the deficiency was seen in 29％ participants. The highest vitamin D level was presented in fall ,but there were still 13％ participants were Vitamin D deficiency. ③Many infants under 6 months were lack of vitamin D seriously(OR=3.67,95％CI：1.25-10.76）. Compared with infants under 6 months fed with formula, those with pure breastfeeding and mixed feeding appeared to more likely to be vitamin D deficiency, OR was 40.941(95％CI：5.07-330.36) and 12.21（95％CI：1.41-105.65）, respectively. ④ Not taking vitamin D supplementation was significantly associated with an increased risk of deficiency (OR=5.21,95％CI：2.48-10.97).Conclusions Infants under 6 months were the high risk group of vitamin D deficiency hospitalized in Lanzhou. Supplementation of vitamin D to children and being outside should be encouraged to the local parents. The vitamin D nutritional status of infants and toddlers aged of 1 to 36 months hospitalized in Lanzhou needs to be improved.
Objective To survey the the application of pain scales in Chinese randomized controlled trials (RCTs) for assessing children′s pain.Methods Four Chinese medical databases, including Chinese Biomedicine Literature Database were searched using the search terms "child", "pediatrics", "infant", "child," "pain" and "randomized" in July 2012. Nine journals were hand-searched in case of missing study. RCTs that assessed children′s pain intensity as an outcome were included. Information of included RCTs, such as pain scales and children′s ages were extracted. Meta analyst 3.13 and Excel 2010 were used to analyze data.ResultsA total of 612 RCTs were included, of which 116 (19.0%) had not used a specific pain scale. 31 pain scales, including 21 observational scales and 10 self-reported scales, were identified in the remaining 496 RCTs. The three most frequently used pain scales were VAS (Visual Analog Scale; 26.6%), FLACC (face, legs, arms, cry, consolability; 9.3%) and NIPS (neonatal infant pain scale; 6.9%). Nineteen observational pain scales were originally developed in non-Chinese, but only one (FLACC) was translated into Chinese following recommended approaches.39 RCTs (6.6%) used self-reported pain scales to assess children under 3 years old.Conclusions More than 25% of the Chinese RCTs had not assessed children′s pain intensity properly. As most pain scales used in China were originally developed in other language, they should be translated into Chinese and adapted following recommended approaches. The validation of Chinese versions should be assessed, and consumers should be trained in how to use them.
ObjectiveTo investigate pathogenic gene of autosomal dominant focal segmental glomerulosclerosis(AD-FSGS）.Methods Clinical data of an AD-FSGS family were collected and analyzed. Urine screening was given to all members of the family. Peripher al blood was taken from all members of the family. Sequencing of all exons of ACTN4, TRPC6 and INF2 and exon 8, 9 of WT1 was performed for 7 members of the family. Changes in protein structure and function caused by mutant coding sequence were analyzed by online NCBI (The National Center for Biotechnology Information).ResultsThe clinical feature of the family was consistent with characteristics of AD-FSGS. No pathogenic mutation in ACTN4,TRPC6 and WT1 was found. Five patients of the family had a deletion mutation(c.1249delCCCCACCCCCAC, p.T420_P423del） in INF2, which had not been reported before. This new mutation is located in the diaphanous inhibitory domain of the protein encoded by INF2.Conclusions c.1249delCCCCACCCCCAC is a new mutation and may be the causal mutation of AD-FSGS in the family.
Objective: To summarize and review the pathogenesis, clinical characteristics and iconography characteristics and management of congenital diaphragmatic hemangioma with pleural effusions. Methods: The clinical data of an infant with congenital diaphragmatic hemangioma and massive pleural effusion diagnosed from Gynecology and Obstetrics Hospital, Fudan University in January 2012 were summarized. The clinical, radiographic features, treatment and prognosis of this case were discussed in the context of the literature review. Results: The premature infant who presented with respiratory distress at birth was diagnosed as right pleural effusion and diaphragmatic hemangioma. A fetal right massive pleural effusion was presented in a short time in the third trimester of pregnancy and postnatal sonography showed a solid mass in the right thorax associated with a massive pleural effusion. Serial pleurocentesis installation of shunts was performed and re-accumulation of the pleural effusions was apparent after post-pleurocentesis. The aorta and portal vein enhanced CTA showed a right diaphragmatic hemangioma. After the DSA angiography and embolization closure no pleural effusion reappeared. Long-term follow up was continued. Conclusions: Congenital diaphragmatic hemangioma is an extremely rare lesion. Being difficult to reach by prenatal diagnosis, the disease should be considered when the fetus was with prenatal pleural effusion. Interventional therapy or an operation of removing hemangioma is the key to solve the pleural effusion. Multidisciplinary treatment plays a key role in improving the prognosis.
Objective: To observe the safety and effectiveness of recombinant human growth hormone(rhGH) replacement in postoperative craniopharyngioma(CP) children with short stature. Methods: Children with pre-diagnosed CP and attending followed-up after surgery were recruited in Children′s Hospital of Fudan University. A retrospective case-control study was conducted. Children were divided into rhGH treatment group and control group. They received first follow-up with 1 to 3 months after surgery and the pituitary hormone functions were measured. Body height, body weight, IGF-1, IGF-BP3 and thyroid function were measured every 3 months and the change in body height after treatment was compared between two groups. Head magnetic resonance(MR) was carried out every 6 to 12 months to observe the difference of the tumor recurrence and second malignant neoplasm between two groups. Results:Eighteen postoperative CP children (9 girls and 9 boys) were diagnosed as growth hormone deficiency (GHD) and recruited. There were 6 patients and 12 patients in rhGH treatment group and the control group, respectively. The average age at surgery was (10.1±4.2) years and (10.1±4.0) years in treatment group and the control group, respectively. 16 out of 18 patients (88.9%) were with multiple pituitary hormone deficiency. Among the 16 patients, 12 of them (75%) also had hypothyroidism, 9 of them (56.2%) had central diabetes insipidus, 4 of them (25%) were with delayed puberty and 11 of them (68.8%) had adrenal insufficiency. In rhGH treatment group, 2 patients were treated by rhGH only, 4 patients were treated by rhGH combined with L-thyroxine, cortisone and Minirin. The average time of 6 patients starting rhGH replacement was (3.5±2.4) years after surgery and the average duration of treatment was (2.6±2.2) years. Before treatment, the height velocity (HV) was (3.1±1.0) cm per year, body height standard deviation(HTSDS) was (-2.63±0.93), at the end of observation of this study, the HV was (12.0±1.1) cm per year, HTSDS was (-0.21±1.39), serum IGF-1 and IGF-BP3 levels were significantly elevated. In control group, before treatment, the HV was (3.2±0.9) cm per year, HTSDS was (-2.44±0.62). At the end of observation of this study, the HV was 3.8±1.0 cm per year, HTSDS was (-3.76±0.97), serum IGF-1 and IGF-BP3 levels were not significantly changed. Recurrent tumor or second malignant neoplasm was not found by head MR in both groups. Conclusions: Multiple pituitary hormone deficiency could occur in postoperative craniopharyngioma children and rhGH replacement could improve body height. No recurrent tumor or second malignant neoplasm was found during treatment.
Objective: Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that affects ectodermal tissues. This study aims to analyze the NEMO mutation and clinical features of Chinese IP cases. Methods: NEMO mutation and clinical features of seven IP inpatients from 2009 to 2012 of our hospital were analyzed. A literature search was performed using the search strategy of "Incontinentia Pigmenti" AND chinese among PubMed, Web of Science, CNKI, VIP from establishment of the database till now. Data of clinical features and NEMO mutation of Chinese IP cases were analyzed. Results:Seven IP cases from our hospital manifested classic cutaneous features and neurological and ocular manifestations were also detected. The NEMO△4-10 deletion of the NEMO gene was detected in 5 (71.4% ) of 7 patients. In 2 patients without NEMO△4-10 deletion pathogenic mutations were not found in 10 exons, only a homozygous SNP was found in one patient. 76 IP patients including 68 females and 8 males had cutaneous manifestations (100%), 70 cases (92.1%) were found clinical manifestions in neonatal period. 16 cases(24.2%) had family history, 41 cases(53.9%) with combination of nerve system abnormalities, 16/66 cases(24.2%) with ocular manifestations, dental manifestations were observed in 19/48 cases (39.6%), hair abnormalities were found in 22/71 cases (31.0%), and 6 cases died (7.9%). Other manifestions included congenital heart disease, skeletal dyspalsia, annular pancreas and pulmonary cystic. A higher blood eosinophilia was observed in 58.3% IP cases. The positive rate of skin biopsy was 95.7%. 30 IP cases were detected with NEMO mutation (62.5%), 27 cases with NEMO△4-10 deletion, 3 cases were detected with pseudogene NEMO exon 4-10 deletion in those patients. Two cases were detected with point mutation and 1 case had single nucleotide deletion. Conclusions: Chinese IP cases were mostly sporadic. Almost all patients were found with typical cutaneous manifestations at birth or shortly after birth. In addition to cutaneous manifestations, neurological and ocular manifestations are also detected. The positive rate of skin biopsy in China was as high as 95.7%, which is helpful to diagnosis. NEMO gene mutation detection ratio in China is about 62.5%, gene diagnosis and prenatal diagnosis may be reasonable for treatment and prognosis, and provide appropriate genetic counseling for family.
Objective: Our study aimed to assess the efficiency and reliability of clinical genetic diagnosis as a new approach for genetic diseases using the next-generation Ion Torrent PGM sequencing platform in pediatrics. Methods: Four unrelated patients with clinical signs of Duchenne/Becker muscular dystrophy (case 1 and case 2), bile acid synthesis defect (case 3) and methylmalonic academia (case 4) were recruited. DNA from the patients was screened using Ion Torrent PGMTM platform, and the results were compared with those obtained by dideoxy sequencing or multiplex ligation-dependent probe amplification analysis. Results: Case 1: Six variants were identified by Ion Torrent PGMTM in the coding region of DMD gene, including 4 SNPs (rs228406, rs1801187, rs1801188, rs1800280), one causal mutation (c.998C>A, p.333S>X) and one insertion (c.10127insT, FS). All variants were confirmed by dideoxy sequencing except the insertion (c.10127insT). Case 2: A five-exonic deletion was detected by Ion Torrent PGM in the DMD gene and confirmed by multiplex ligation-dependent probe amplification. Case 3: Seven variants were identified by Ion Torrent PGMTM in the coding region of HSD3B7 and AMACR genes, including 2 compound heterozygous mutations (c.45-46delAG, FS; c.262G>G/C, p.88G>RG), 5 SNPs (rs9938550, rs3195676, rs10941112, rs2278008, rs2287939). All variants were confirmed by dideoxy sequencing. Case 4: Three variants were identified by Ion Torrent PGMTM in the coding region of MUT gene，including one heterozygous mutation (c.729-730het-insTT, FS), 2 SNPs (rs2229384, rs8589). These variants were confirmed by dideoxy sequencing. Two variants (c.1595C>CT, p.532R>RH; c.1540G>GT, p.514Q>KQ) were detected by Ion Torrent only. Conclusions: Here the implementation of Next-generation Ion Torrent Sequencing is discussed. This platform can be readily adopted by clinical molecular testing laboratories and represents a rapid, cost-effective, high throughput approach for screening common genetic diseases.
Objective: To study the relation between phenotype of spinal muscular atrophy(SMA) in children and copy number variation of SMN1 and SMN2 gene. Methods: Using genomic DNA multiplex ligation-dependent probe amplification (MLPA) the copy number variations of exon 7 and 8 of SMN1 and SMN2 were detected in children with clinically suspected SMA samples in Children′s Hospital of Fudan University. Genotype and phenotype data were analyzed. Results: The study covered 41 cases of children with suspected SMA. It included 37 cases (90.2%) with deletion of exon 7 and/or 8 of SMN1 gene, the ratio of male to female was 1 to 0.8, the average age of onset was (7.5 ± 7.0) months. There were type Ⅰ 20 cases (54.1%), type Ⅱ 15 cases (40.5%), type Ⅲ 2 cases (5.4%), the average age of onset of type Ⅰ was (2.9±1.8) months, type Ⅱ (10.7±1.9) months and type Ⅲ(30.0±8.5) months. In 37 patients with deletions in SMN1 gene, exon 7 and/or 8 had 2 copies in SMN2 gene in 18 cases, the average age of onset was (4.9 ± 3.9) months. 13 out of 18 cases (72.2%) were type Ⅰ, 5 cases (27.8%) were type Ⅱ. There were 19 patients with increased SMN2 gene copy number (3 or 4), the average age of onset was (9.9±8.5) months, 7 of 19 cases (36.8%) were type Ⅰ, 10 cases (52.6%) were type Ⅱ, 2 cases (10.5%) were type Ⅲ. The parents of 5 cases were performed SMN1 gene detection, heterozygous deletion were found in 9 parents, deletions of exon 7 and 8 were found in 8 parents. In the rest one case, the father was found to be a carrier of deletion of exon 7 and 8, however the mother was a non-carrier. Conclusions: Gene SMN1 exon 7 and/or 8 homozygous deletion mutation was the direct cause of SMA. SMN2 copy number increase was negatively correlated with the severity of the SMA phenotype.
Objective: To observe the efficacy of different dose intravenous immunoglobulin and/or methylprednisolone in non-response children with Kawasaki disease. Methods: Clinical data of hospitalized IVIG non-response children with Kawasaki disease from 2002 to 2010 in Beijing Children′s Hospital were retrospectively collected. According to 6 kinds of treatment about IVIG and/or combined with methylprednisolone, patients were divided into IVIG 2 g group, IVIG 1 g once group and IVIG 1 g twice group. The body temperature reduced below 38℃ in 48 hours after different doses treatment of IVIG and/or combined with methylprednisolone was defined as a sensitive indicator. And coronary dilatation was diagnosed by echocardiography in 2 weeks after different treatment. Results: Two hundred and thirty children were IVIG non-responders after the first dose IVIG treatment, with an incidence rate of 18.3% (230/1 257). Out of these IVIG non-response children, 190(82.6%) were treated by additional IVIG with a dose of 1 g·kg-1, 67 of them (35.5%) still had a persistent fever; 40(17.4%)were treated by additional IVIG with a dose of 2 g·kg-1, and 4 children (10.0%) had a persistent fever. Of the 71 children who had a persistent fever after additional IVIG, 11 children were treated by glucocorticoid steroid and fever disappeared soon, while 60 children were treated by a third IVIG and 25 children(41.7%) still had a persistent fever whose fever finally disappeared when glucocorticoid was used. Without the treatment of methylprednisolone, there were significant differences in sensitive indicator between IVIG 2 g group and IVIG 1 g once group (P<0.01), and there was no difference between IVIG 2 g group and IVIG 1 g group (P = 0.082). Without the treatment of methylprednisolone, 184 cases were sensitive to IVIG in three groups with the incidence rate of coronary artery impairment 44.0%. And 46 cases were not sensitive to IVIG, but all became sensitive when combined with methylprednisolone therapy, with the incidence rate of coronary artery impairment 32.6%. There was no difference in the incidence rate of coronary artery impairment whether or not combined with methylprednisolone therapy (P=0.183). In case of no difference in the incidence rate of coronary artery impairment among three groups (P=0.623) and without the treatment of methyl prednisolone, the incidence rate of coronary artery impairment was not lower in IVIG 1 g group than that in IVIG 2 g group, and drug cost was reduced by half. If still not sensitive, it could be treated with methylprednisolone or IVIG once more. Conclusions: Additional IVIG with a dose of 2 g·kg-1 had a better therapeutic effect than IVIG with a dose of 1 g·kg-1. If additional IVIG with a dose of 2 g·kg-1 could not be given due to limited economic conditions, it may be treated with IVIG 1 g or methylprednisolone or IVIG 1 g once more in case of no difference in the incidence rate of coronary artery impairment.
Objective: Recently some research has shown that heat shock protein 70-2（HSP70-2） gene and tumour necrosis factor-α(TNF-α) gene polymorphisms may be associated with susceptibility to autoimmune diseases. This study aimed at exploring the correlation between HSP70-2 gene polymorphism（+1267 A/G）or TNF-α gene polymorphism (-308G/A) and Henoch-scholein purpura(HSP) in children. Methods: 205 children with HSP and 53 healthy controls were enrolled in this study. HSP70-2 genotypes were analyzed by the polymerase chain reaction-restriction fragment length polymorphism technique. Results: The frequency of GG genotype was significantly different between HSP group and healthy control group（χ2=4.764, P<0.05）. The genotype frequency of A and G alleles between HSP group and healthy control group had no statistical significance（χ2=2.689，P>0.05）. The frequency of genotypes of HSP70-2 gene(+1267A/G) between HSP without kidney damage group and HSP with nephritis group showed no significant statistical difference (χ2=0.063, P>0.05). The frequency of AA genotype was significantly different between HSP group and healthy control group(χ2=6.447, P<0.05).The genotype frequency of A alleles were 24.4% and 12.3% in HSP group and healthy control group(χ2=7.241 , P<0.05).The frequency of genotypes of TNF-α gene(-308 G/A) between HSP without kidney damage group and HSP with nephritis group showed no significant statistical difference(χ2=4.474 , P>0.05).The genotype frequency of A or G alleles between HSP without kidney damage group and HSP with nephritis group had no statistical significance（χ2=2.689，P>0.05）. Conclusions: GG homozygous of HSP70-2 gene (+1267A/G) and AA homozygous of TNF-α gene (-308G/A) might be a genetic predisposing predictor for HSP in children. There was no significant association between GG homozygous and nephritis in HSP.
Objective: To investigate the influence of intrauterine environment on DNA methylation status of Wilms′ tumor gene 1 (WT1) in the kidney and renal function, and to explore the potential molecular mechanism by which the fetal environment leads to postnatal kidney diseases. Methods: A rat model of intrauterine growth retardation (IUGR) was established by maternal low-protein diet throughout pregnancy. At 12 weeks of age, 24-hour urine protein was detected, glomerular number was counted with the light microscope, real-time PCR was used to test the mRNA levels of WT1 and the methyltransferases, such as DNMT1, DNMT3a and DNMT3b. MassARRAY was used to analyse the methylation of WT1 gene promoter region quantitatively. Results:The body weights of IUGR newborn rats were significantly lower than normal rats (P<0.000 1), and the glomerular number was lower. The total number of glomeruli per kidney was also decreased (P=0.001).At week 12, they had mild proteinuria (P=0.016), with increased serum cystatin C (P=0.036). Quantitative methylation results showed that the WT1 promoter methylation levels significantly increased (P=0.029) at this time, and was strikingly associated with its mRNA expression (r=-0.939, P=0.000 1). It was also found that the mRNA expression of DNMT1 and DNMT3a significantly increased respectively (P was 0.003 and 0.010, respectively). Conclusions: Poor intrauterine environment can affect the methylation state of WT1 and lead to its abnormal expression, which may contribute to the proteinuria of IUGR rats in adulthood.
Lumbar puncture is a procedure that frequently performed by physicians from several disciplines to help establish a diagnosis and treatment of a variety of disorders in children, such as central nervous system infections and central nervous system diseases. Due to the fear and strain psychology of children, they always cannot cooperate during the procedure, which increases the difficulty of the procedure and leads to traumatic or unsuccessful lumbar puncture. Traumatic or unsuccessful lumbar puncture can cause substantial diagnostic ambiguity that may lead to unnecessary antibiotic use and hospitalization. Up to now, there is no uniform standards of preoperative care, surgery specific methods and post-operative care for this procedure in children.
Objective To survey the current situation of the publication of the Cochrane systematic reviews(CSRs),protocols and registered titles in Cochrane Database of Systematic Reviews (CDSR).Methods We performed statistical analysis of different countries, Cochrane review groups that released CSR, protocols and registered titles, as well as the authors, funding agencies, institutions that published the CSR based on the data from the CDSR (Dec 2012) and the Cochrane Collaboration (Dec 2012).Results The publishing rates of the CSR, protocols and registered titles showed a trend of steady growth, as well as the number of authors, countries, funding agencies and institutions, but imbalance in the number of the distribution of authors, institutions and countries. The publishing rates of the CSR in pregnancy and childbirth group, protocols in anaesthesia group and registered titles in hepato-biliary group ranked first, respectively. The number of authors participating in the publication of CSR in China ranked the seventh in the world, which has rapidly increased since the foundation of Chinese Cochrane centre. Besides, the number of the CSR published by Sichuan University has ranked first in China for several years. Conclusion Although the number of CSR showed an increased annual trend, there was a serious imbalance in the number of the distribution of authors, institutions, countries and groups. The Chinese has a great potential in CSR. However, there are still many problems that need to be resolved.
