Objective To investigate the determinants to childhood essential hypertension in China and provide scientific evidence for prevention and management of the disease. Methods Relevant studies were searched using PubMed, ISI Web of Knowledge, OVID, CNKI, CBM and VIP from January 2002 to December 2011. Stata 11.0 software was applied for the meta-analysis. After heterogeneity analysis, pooled odds ratio (OR) with 95% confidence interval (95%CI) using both fixed and random effect models were estimated. Sensitivity analyses were used for evaluating the robustness of the result. Publication bias was assessed by Egger′s test and the method of trim and fill. Results A total of 7 studies involving 2 385 cases and 32 093 controls were included. The pooled OR and its 95%CI of different factors associated with hypertension among children in China were: gender (male) 1.495（1.057-2.115）, age 0.997（0.933-1.066）, BMI 1.870（1.436-2.434）, family history 1.668（0.736-3.783），frequency of physical activities 0.593（0.484-0.726）. Conclusions The present results indicate that male, overweight, and obesity are risk factors of hypertension among children in China, while frequency of physical activities is a protective factor which could reduce the risk of essential hypertension in China.
Objective To assess the short-term efficacy and safety of oral testosterone undecanoate (TU) treatment for 46, XY DSDs boys with small penis. Methods It was a prospective and self-comparison design including consecutive cases treated with oral TU at a dose of 2-3 mg·kg-1·d-1 for 3 months as a duration. All cases were treated with no more than 2 durations. Penile lengths (PLs) were measured at the end of each duration with Feldman method. Testicular volume was measured with PARADA Testicular-model comparison method. Bone age (BA) was calculated by one investigator according to G-P method. Growth-related parameters and other side effects were observed. Results PLs of 50 cases increased from (1.4±0.8) cm to (2.9±0.7) cm (P= 0.00), △PL standard deviation score (SDS) was (2.9±1.3) (P= 0.00) at the end of the 1st duration. 68% (34/50) boys achieved the target (PL≥-2.5s, another 1 case combined with hypospadias reached the surgery condition. The rest of 15 cases entered the second duration and 11 patients completed treatment. △PLs were (0.6±0.4) cm, △PL-SDS was (1.1±0.8). 72.7% (8/11) and achieved the goal, 27.3% (3/11) cases received operation. Among the cases who completed 2 durations of treatment, the increment of PLs in the first duration was significantly greater than that in the second duration (P<0.05). 48% patients whose PL were longer than -4 SDS needed the second duration while 100% patients whose PL were shorter than -4SDS needed. All patients and/or their parents were satisfied with the outcome. The biomarkers were in normal range and the average BA/CA was <1. Conclusions This study shows that TU treatment in small penis improves the penis length. The first duration treatment improves more increment of PL. The longer the PL is at baseline, the greater possibility the patient reaches the goal at the first duration. The effect of TU on growth and bone maturation is acceptable and this medication obtains a good adherence and satisfaction. The dosage of TU in this study is proper.
Objective To analyze the clinical manifestations of various types of progressive familial intrahepatic cholestasis (PFIC) characterized by low γ-glutamyltransferase (GGT). Methods Children were clinically diagnosed as PFIC with low GGT in 2004-2007. Clinical symptoms, laboratory tests and liver histopathological changes were retrospectively analyzed. According to ATP8B1 and ABCB11 gene exon sequencing results, they were classified into three groups, PFIC-Ⅰ, PFIC-Ⅱ and unclassified groups. The differences among them were compared. Results A total of 23 cases were born with normal birth weight and the clinical manifestations of onset were jaundice, pruritus and liver function damage. The median age of onset was 40 days and the median treatment age was 6 months. Thirteen cases (56.5%) appeared white bole stool, 3 cases with significant diarrhea and 6 cases with malnutrition, rickets, growth retardation. Two cases in the follow-up were found to have gallstones. Liver biopsy pathology showed non-inflammation or mild inflammation of liver cells, non-fatty degeneration of liver cells, multinucleated giant cells transformation and cholestasis of liver cells or obvious cholangiole ducts. Patients in PFIC-Ⅰ, PFIC-Ⅱ and unclassified groups were 9, 7 and 7 cases respectively. Clinical symptoms of the unclassified group were the most severe among three groups. Clinical symptoms of patients in PFIC-Ⅱ group were relatively severe, with significantly elevated levels of serum ALT and total bile acid (TBA) than those in PFIC-Ⅰ group, however with lower GGT levels than those in PFIC-Ⅰ group. There was significant difference among three groups in hepatic multinucleated giant cell transformation pathologically (P<0.01). PFIC-Ⅰ group showed no hepatic multinucleated giant cell transformation. Conclusions PFIC-Ⅰ group shows no hepatic multinucleated giant cell transformation. The levels of serum ALT and TBA in PFIC-Ⅱ group elevate significantly and are higher than those in PFIC-Ⅰ patients. These results are helpful to the clinical classification and treatment of the disease.
Objective To investigate the efficacy and clinical significance of adrenocorticotropic hormone on the treatment of children with steroid-dependent and frequently relapsed primary nephrotic syndrome(PNS). Methods Children enrolled in this study all met the diagnostic criteria of PNS characterized by steroid-dependent and frequent relapse. ACTH was intravenously drip-ped slowly for 3-5 days every month ，and each case was gradually reduced glucocorticosteroid until withdrawal. Simultaneously, the adrenocortical function was evaluated. Six children with maintenaned glucocorticosteroid treatment were as controls. Results From September to December 2010, 14 children were recruited into ACTH group and 6 into control group. ①12 cases of the ACTH group could be successfully reduced the dosage of hormone to withdrawal without recurrence. Urinary protein of 2 cases fluctuated due to infection and remained positive when the infection was under the control, and the dosage of GC increased. When urine protein changed to be negative, the dosage of GC reduced and ACTH impact was continued to be used. One case relapsed due to infection, the ACTH treatment was stopped and tacrolimus was used. ② There was significant difference between 3, 6, 12 months usage of GC and before treatment in ACTH group (P<0.05). There was no difference between 3, 6, 12 months usage of GC and before treatment in control group (P>0.05). There was significant difference between ACTH group and control group after 6 and 12 months usage of GC (P<0.05). ③ Before treatment, the function of adrenal cortex in both ACTH and control groups was insufficiency. The function of adrenal cortex of 13 cases in ACTH group became normal in 7, 8, and 9 cases after the treatment of 3, 6 and 12 months, respectively. The function of adrenal cortex of 6 cases in the control group all decreased. ④ In ACTH group, 1 case had waist rash and 1 case heart rate speeded up. ⑤ There was significant difference in height between the treatment of 6, 12 months and before treatment in ACTH group. There was no difference in height before and after treatment in control group (P<0.05). There was no significant difference in weight between the treatment of 3, 6, 12 months and before treatment in ACTH group. There was significant difference in weight between the treatment of 6, 12 months and before treatment in control group (P<0.05). ⑥ There was significant difference in bone mineral density before and after treatment in ACTH and control groups (P>0.05) . Conclusions ACTH is effective to children with steroid-dependent nephrotic syndrome. Less side effects are observed compared with long-term application of glucocorticosteroid. Further studies are needed to confirm the findings.
Objective To assess prophylactic nasal continuous positive airways pressure (CPAP) used soon after birth regardless of respiratory status in infants who were preterm or with very low birth weight to reduce the use of mechanical ventilation (MV) and the incidence of respiratory distress syndrome(RDS) , bronchopulmonary dysplasia(BPD) and adverse outcomes of nasal CPAP. Methods We searched the Cochrane Central Register of Controlled Trials (CENTRAL), EMBASE, PubMed, CNKI, Wanfang Chinese periodical Database and VIP Chinese periodical Database from the establishment of the database to December 2011, using the terms (prophylactic nasal CPAP OR early nasal CPAP) AND (preterm infants OR low birth weight infants). All trials using randomized or quasi-randomized patient allocation of preterm infants ≤ 32 weeks gestation were eligible. Two review authors independently assessed the potential risk of bias in included studies according to the Cochrane Collaboration′s recommendations including sequence generation, allocation concealment, blinding, incomplete outcome data, selective outcome reporting and other sources of bias. Risk ratios (RR) and 95% confidence intervals (CI) as the effect measures for dichotomous data were synthesized. The mean difference (MD) and 95%CI were used as the metrics of effect size for continuous outcomes. The meta-analysis was performed using the Cochrane statistical package RevMan 5.0. Results Eight trials in preterm infants who were treated with prophylactic nasal CPAP were included. NCPAP group failed to significantly reduce the utilization rate of tracheal intubation （RR＝-0.09，95%CI：-0.19-0.02，P=0.09）, incidence of RDS（RR＝0.81,95%CI：0.59-1.1，P=0.18） and fatality （RR＝0.88，95%CI：0.72-1.09，P=0.25） in preterm infants. The use of prophylactic nasal CPAP resulted in a reduction in the outcome of surfactant administration (RR=0.72, 95%CI: 0.64-0.80, P<0.000 01). NCPAP group failed to significantly reduce the time of tracheal intubation （MD= -1.91 d，95%CI：-6.47-4.45 d，P= 0.72） and the time of oxygen (MD=-0.46 d,95%CI：-6.55-5.63 d，P= 0.88）. There were no statistically significant differences in the incidence of BPD, IVH, retinopathy of prematurity, necrotizing enterocolitis, and ROP between NCPAP group and control group. Conclusions Recent evidences indicate significant effects of prophylactic nasal CPAP in reducing the outcome of surfactant administration and increasing the incidence of pneumothorax. Further multi-center randomized controlled trials are still expected to evaluate the effectiveness of prophylactic nasal CPAP for reducing the incidence of RDS, death and increasing the incidence of some adverse outcomes.
Objective Neural tube defects are severe birth defects, affecting approximately 1-2 in every 1 000 live births. ZIC2 is a member of ZIC family, which contains 5 zinc finger proteins in mammals. ZIC2 hypomorphic mutant mice show holoprosencephaly. Here ZIC2 exons and flanking sequences were screened for rare mutations in Chinese neural tube defects cases and matched controls. Methods Case group included DNA samples of stillborn fetuses with neural tube defects, which had been confirmed by B ultrasound in gestation and anatomical pathology, from Shanxi and Suzhou, China. Control group consisted of DNA samples of unrelated randomly selected fetuses and adults without serious birth defects or serious illnesses from the same region. Genomic DNA was extracted using phenol-chloroform method. Polymerase chain reaction (PCR) was used to amplify ZIC2 exons from genomic DNA. The PCR products were sequenced by ABI 3730 sequencer through ABI Prism Bigdye system (ABI, Foster City, CA, USA). Every detected mutation was validated by sequencing from the complementary strand. Results A synonymous mutation c.1140G>A locating in the second exon of ZIC2 was specifically found in a 37-week gestation female fetus diagnosed with encephalocele. KEGG database showed this mutation was in one C2H2 finger domain of ZIC2. No missense mutation or insertion/deletion in ZIC2 coding region was found in neural tube defects cases or controls. Conclusions ZIC2 gene was highly conservative in sequence. No mutations or SNPs in coding region of ZIC2 gene were identified to be associated with neural tube defects in Chinese.
Objective To evaluate the diagnostic value of plasma 1,3-β-D glucan (BG) assay （G test) to invasive fungal infection（IFI） in children. Methods By retrospectively accessing the clinical data of pediatric inpatients who underwent G test and the patients were recruited from January 2008 to August 2011. According to the diagnosis standard of IFI, children were divided into IFI group and non-IFI group. G test was performed by the GKT-5M Set Kinetic Fungus Detection Kit. It was judged as positive when the plasma BG level ≥10 pg·mL-1. 2 by 2 table was used to calculate the G test for the diagnosis of IFI sensitivity, specificity, positive predictive value and negative predictive values. Receiver operating curve (ROC) of G test was analyzed, and the area under the curve was calculated. Results A total of 525 inpatients received G test, 129 of them with suspected IFI diagnosis were excluded. Forty-three patients were diagnosed as IFI (9 as proven, 34 as probable), and 353 without IFI. In IFI group G test was positive in 31/43 cases, the positive rate was 72.1%; negative in 12/43 cases, false negative rate was 27.9%. 48/353 cases of non-IFI group were positive, false positive rate was 13.6%. The sensitivity, specificity, positive and negative predictive values were 72.1%, 86.4%, 39.2% and 96.2% respectively. According to ROC analysis, the AUC was 0.815（95%CI：0.732-0.898）. Conclusions G test has good diagnostic value of IFI in children. Appropriately higher cutoffs or continuous monitoring may significantly control false positive rate of the test.
Objective To assess the the biological and clinical features of neuroblastoma and to improve the recognition of this tumor. Methods Patients diagnosed as neuroblastoma admitted from Jan. 2007 to Jan. 2011 were retrospectively analyzed for the clinical features, detection results and therapy. Follow-up was conducted every 3 months to evaluate short-term and long-term therapeutic effect. Results Totally 56 eligible patients (22 females, 34 males) were included. The median age of disease onset was 41(7-147) months. The median course of the disease was 1.7 (0.2-60) months. 1 patient was in INSS stage Ⅱ, 2 in stage Ⅲ, 52 in stage Ⅳ and 1 in stage Ⅳs, 53 patients were in high-risk, 2 were in moderate-risk. ①24 cases(42.8%) were with fever, 18 (32.1%) with extremity pain, 14 (25.0%) with abdominal mass, 12 (21.4%) with abdominal pain, 3 (5.4%) with paraparesis. ②In 49/56 cases（87.5%）LDH was more than 240 U·L-1, in 47/51 （92.2%）NSE was more than 16.3 ng·mL-1, in 44/53 cases （83.0%）VMA/24 hours urine was more than 30 μmol, in 14/30 cases （46.7%）SF was more than 1 500 ng·mL-1. ③Primary tumor site was on adrenal in 23 patients (41.1%)，retroperitoneal neuroblastoma in 25 cases（44.6%）, adrenal gland and retroperitoneal neuroblastoma in 2 cases（3.6%），retroperitoneal neuroblastoma and thorax in 6 cases（10.7%）. LDH was more likely elevated in patients with surrounding abdominal major vessels and the patients with huge mass (P=0.021; P=0.017). ④Bone marrow was involved in 47 cases（83.9%）. Bone metastasis was found in 46 cases（82.1%）. 6 cases （10.7%）had abdominal dissemination. Distant lymph node was involved in 3 cases（5.4%）. ⑤40 patients were with pathological results, 10 cases(25.0%) with ganglioneuroblastoma, 30 cases(75.0%) with neuroblastoma. ⑥1 case in stage Ⅳs was followed-up, 13 cases were missed follow-up, 42 cases were treated by NB-N6 protocol. In 16 cases the disease progressed, 26 cases remained followed up, the median follow-up duration was 19.5 (3-52) months, 2-year EFS was 57.4%. Conclusions The age of disease onset was elder in patients with retroperitoneal neuroblastoma than in those with posterior mediastinum. The main clinical presentations were fever, extremity pain and abdominal mass. LDH was more likely elevated in patients with surrounding abdominal major vessels and the patients with huge mass. The most common subtype pathologically was neuroblastoma. Two-year EFS was 57.4%.
Objective To summarize the clinical phenotype charateristics of Prader-Willi syndrome in neonates for screening earlier and making further molecular genetic diagnosis for appropriate patients. Methods The data from thirteen Prader-Willi syndrome neonates that had been definitely diagnosed with molecular biological methods from August 2009 to August 2011 were collected retrospectively. For each patient, the presence or absence of the major and minor features according to the diagnostic criteria was recorded. The typical clinical phenotype of Chinese neonates with Prader-Willi syndrome was analyzed. Results A total of 13 neonates diagnosed as Prader-Willi syndrome were recruited in the study, including 9 males and 4 females. The age of onset was 4-28 days. Nine cases were caused by deletion of 15q11.2-q13 from the paternal and 4 cases were caused by maternal uniparental disomy. The major phenotype in neonatal period included skin hypopigmentation in 13 cases (100%) which was significantly different from abroad, and central hypotonia in 13 cases (100%), hypogonadism in 12 cases (92.3%), weak cry in 12 cases (92.3%), feeding difficulty in 11 cases (84.6%); minor phenotypes included characteristic facial features in 5 cases ( 38.5%), thick viscous saliva in 5 cases (38.5%). In addition, older mothers' age was found in 9 cases（69.2%）; amniotic fluid contaminated in 8 cases（61.5%）, hydramnios in 3 cases（23.1%）, premature rupture of membrane in 5 cases（38.5%）, anomal fetal position in 4 cases（30.8%）, intrauterine embarrassment in 9 cases（69.2%）, all these were dangerous in perinatal period between mother and fetus. Conclusions Skin hypopigmentation and central hypotonia in neonatal period could be taken as the preliminary screening criteria and Prader-Willi syndrome molecular genetic test should be performed for Chinese neonates.
Abstract ObjectiveTo study the clinical features, diagnosis and treatment of congenital vascular ring. Methods The clinical data (age, gender, age of onset, clinical manifestations, laboratory examinations), imaging examinations (X-ray, echocardiography and multi-detector CT scan), pulmonary function, bronchoscopy, diagnostic methods, treatment, surgery according to the pathologic types and follow-up of children identified as congenital vascular rings at Beijing Anzhen Hospital from July 2008 to December 2011 were retrospectively reviewed. ResultsTwelve cases diagnosed as congenital vascular rings were included into the study, including 3 males and 9 females, aged from 1 month to 21 years (7 cases less than 1 year of age). Two cases were correctly diagnosed at the first hospital visit and 9 cases were misdiagnosed. Eleven cases had a history of recurrent cough and wheezing, 2 cases had difficulty in feeding, 3 cases had cyanosis, 10 cases had heart murmurs and 9 cases had growth retardation. The results of echocardiography were double aorta arch in 4 cases, right aortic arch with left ductus arteriosus in 1 case, pulmonary artery sling in 7 cases. Ten cases were combined with other heart malformations. Ten cases were given multi-detector CT airway reconstruction and showed tracheobronchial stenosis in 9 cases (5 cases with trachea, 3 cases with right principle bronchus,1 case with left principle bronchus), esophagus stenosis in 2 cases. Two cases were given bronchoscopy to confirm the stenosis of trachea in 1 case, right principle bronchus in 1 case. Seven patients underwent surgery according to the pathologic types including 2 cases of cutting off the small arch, 1 case of cutting off the left patent ductus arteriosus and 4 cases of reimplanting of the left pulmonary artery.One of them died. The respiratory symptoms and growth in 6 cases gradually were improved in 3 to 6 months after operation. ConclusionsThe children with recurrent respiratory symptoms such as chronic cough and wheeze should be examined for the possible presence of congenital vascular rings. Echocardiography as a noninvasive technique combined with multi-detector CT can clearly show the anatomy of vascular rings. Early surgical management to remove the tracheal stenosis is vital for survival.
Abstract ObjectiveTo determine whether the use of the Consolidated Standards of Reporting Trials(CONSORT) statement is associated with the improvement in the reporting quality of RCTs published in Chinese pediatric journals. Methods Six core Chinese pediatric journals including Journal of Clinical Pediatrics, Chinese Journal of Contemporary Pediatrics, Chinese Journal of Practical Pediatrics, Chinese Journal of Evidence-based Pediatrics, Chinese Journal of Pediatrics, Chinese Journal of Pediatric Surgery, were hand-searched from inception to Dec. 2010. The CONSORT checklists were used to assess reporting quality. Other important data such as reporting of ethics review and informed consent, involving research centers, clinical trials registry and sample size were extracted as well. Given CONSORT statement was firstly introduced into China in 1997,the identified studies were grouped in two publication periods, i.e. before 1996 (pre-CONSORT), and 1997-2010(post-CONSORT). Data were summarized using descriptive statistics such as frequency, median and interquartile range (IQR). ResultsA total of 619 RCTs were identified and 157 of them were published before 1997 when CONSORT statement was firstly introduced into China. Even though the reporting quality of RCTs published in Chinese pediatric journals changed significantly in some of the aspects such as introduction, recruitment, baseline data and ancillary analyses (P<0.05) etc, some important methodological components were still incompletely reported, such as sample size calculation method (0.6% vs.1.1%), sequence generation for randomization (3.2% vs 7.6%), allocation concealment (0 vs 1.1%) or blinding (0 vs 2.6%). Moreover, none of RCTs published in Chinese pediatric journals reported the following items, such as important changes to methods after trial commencement, changes to trials outcomes after the trials commencement and presentation of both absolute and relative effect sizes for binary outcomes. Assessing 9 RCTs published in Chinese Journal of Evidence-based Pediatrics which uniquely adopted CONSORT statement in its instructions to authors,it indicated that its reporting of sample size calculating method,sequence generation,allocation concealment,blinding and implementation was higher than other journals′. ConclusionsOverall, the reporting quality of RCTs has not substantially improved since the introduction of CONSORT statement in China. The quality of reporting RCTs is still generally poor and often not adequate to allow readers to assess the validity of trials.
Abstract ObjectiveTo study the etiological spectrum and clinical features of coronary artery disease in children. MethodsThe clinical manifestations, laboratory examinations, diagnosis and treatment of 32 children with coronary artery disease (not including complex cardiac malformation associated with coronary artery abnormalities) from January 2008 to December 2011 were retrospectively reviewed. ResultsThirty-two children were enrolled in this study including 20 males and 12 females aged from 1 month to 18 years. The diagnosis was established on the basis of ECG,echocardiography, 64-slice CT or angiography. Anomalous origin of left coronary artery from pulmonary artery with heart failure was found in 10 cases( 4 cases misdiagnosed as endocardial fibroelastosis, 1 case as dilated cardiomyopathy, 2 cases as severe mitral regurgitation) and needed immediate surgical treatment for left coronary artery reimplantation; Coronary artery fistula was found in 13 cases, onset with heart murmur (9 cases) and heart failure (4 cases),12 cases underwent surgery for ligation or pericardial patch of the fistula,and 1 case was given transcatheter closure. Kawasaki disease(KD) with coronary artery aneurysm was found in 6 cases, the patients appeared as left ventricular enlargement and myocardial ischemia with long-term anticoagulation treatment. Familial hypercholesterolemia was found in 3 cases with manifestations of coronary atherosclerotic heart disease, the patients were treated by pharmaceutic drugs for lowing lipids and improving myocardial ischemia as well as diet therapy. ConclusionsAnomalies of the coronary arteries in children are rare. Congenital coronary anomalies include anomalous origin of left coronary artery from pulmonary artery and coronary artery fistula. The most common causes of acquired abnormalities of the coronary vessels in children are KD and familial hypercholestero-lemia. The clinical background of children with left ventricular enlargement and/or myocardial ischemia indicates the possibility of suffering from the diseases above. Early diagnosis and therapeutic strategy may be important for improving the prognosis.
Abstract ObjectiveTo explore clinical characteristics, gene mutation and research progress of tricho-rhino-phalangeal syndrome(TRPSs) in order to improve the recognition of this disease. Methods Clinical signs and laboratory examinations were documented from a female patient and image studies were conducted. Furthermore, the karyotype of her family was analysed, and genomic DNA in the peripheral blood leucocytes from the pedigree was extracted, the entire coding region of TRPS1 gene was amplified with polymerase chain reaction( PCR), and sequenced directly. The related literatures were reviewed. ResultsThe patient presented with characteristic facial abnormalities such as sparse scalp hair, laterally sparse eye-brows, protruding ears, bulbous pear-shaped nose, elongated and flat philtrum, and thin upper lip; brachydactyly with swollen and broadened fingers and X-ray of the hands showed cone-shaped epiphyses of the phalanges; the patient′s karyotype was 46, XX, t(2q-;8q+). The results of her parents and brother′s karyotype were normal. TRPS1 gene mutation analysis also showed negative results. ConclusionsThe diagnosis of TRPSs should be made on the basis of suggestive clinical features and radiological findings. Further study is needed to find out whether other factors contribute to TRPS to explain the absence of mutation in the female patient.
