Background: Large-for-gestational age (LGA) newborns can increase the risk of metabolic syndrome. Previous studies have shown that the levels of maternal blood lipids, connecting peptide (C-peptide), insulin and glycosylated hemoglobin (HbA1c) were significantly different between LGA and appropriate-for-gestational age (AGA) newborns. This study aimed to determine the effect of the levels of maternal lipids, C-peptide, insulin, and HbA1c during late pregnancy on LGA newborns.Methods: This study comprised 2790 non-diabetic women in late pregnancy. Among their newborns, 2236 (80.1%) newborns were AGA, and 554 (19.9%) newborns were LGA. Maternal and neonatal characteristics were obtained from questionnaires and their case records. The levels of maternal fasting serum apolipoprotein A1 (ApoA1), triglyceride (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), C-peptide, insulin and blood HbA1c were measured. The chi-square and Mann-Whitney U test were used to analyze categorical variables and continuous variables between the AGA and LGA groups, respectively. Binary logistic regression analysis was made to determine the independent risk factors for LGA newborns.Results: Maternal TG, C-peptide, insulin and HbA1c levels were signifi cantly higher in the LGA group than in the AGA group (P<0.05). The LGA group had signifi cantly lower levels of maternal TC, HDL-C and LDL-C than the AGA group (P<0.05). After adjustment for confounding variables, including maternal age, pre-pregnancy body mass index, education, smoking, annual household income, amniotic fluid volume, gestational hypertension, newborn gender and gestational age at blood collection, high maternal TG levels remained signifi cantly associated with LGA newborns (P<0.05).Conclusion: High maternal TG level during late pregnancy is signifi cantly associated with LGA newborns.

作者： 刊期： 2014年第02期

Background: Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand.Methods: The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991- 2011 were retrospectively reviewed.Results: Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females.Conclusion: Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

作者： 刊期： 2014年第02期

作者： 刊期： 2014年第02期

Background: Abnormal expression of connexin 43 (Cx43) has been reported to play an important role in the development of conotrunccal anomalies. However, less is known about the underlying reason for its abnormal expression. MicroRNAs (miRNAs), as an important part of gene expression regulation, have been implicated in some cardiac diseases. This study aimed to investigate the expression of Cx43 and its related miRNAs in patients with tetralogy of Fallot (TOF), and illustrate the potential role of abnormal miRNAs regulation to Cx43 expression in the pathology of TOF.Methods: Real-time polymerase chain reaction was used to detect the expression of Cx43 and 10 Cx43-related miRNAs in the myocardium from 30 TOF patients and 10 normal controls. Immunohistochemistry was used to detect Cx43 protein expression. Putative miRNA binding sites in the 3'UTR of Cx43 were examined in 200 TOF patients and 200 healthy individuals, using Sanger sequencing, to exclude sequence variations resulting in binding diffi culties of miRNAs.Results: Cx43 mRNA and protein expression in the myocardium tissue was significantly increased in TOF patients. The expression of MiR-1 and 206 was significantly decreased in the TOF patients as compared with the controls (P<0.05). No obvious difference was observed in the expression of the other 7 miRNAs between the TOF patients and controls (P>0.05). No meaningful sequence variation was detected in the putative miR1/206 binding sites in the 3'UTR of Cx43.Conclusions: This study indicated that miR-1 and 206 is down-regulated in TOF patients, which may cause an up-regulation of Cx43 protein's synthesis. It provided a clue that miR-1 and 206 might be involved in the pathogenesis of TOF, additional experiments are needed to determine if in fact, miR-1 and 206 contribute substantially to TOF.

作者： 刊期： 2014年第02期

Background: Graves' ophthalmopathy (GO) occurs commonly in children with Graves' disease (GD). However, there are limited studies on the clinical manifestations and thyroid autoantibodies in pediatric GO. The aim of this study was to investigate the prevalence and risk factors of GO in childhood GD.Methods: Clinical and biochemical data from children and adolescents with GD were retrospectively reviewed. Eighty patients under 19 years of age were included in the present study. We compared the clinical and biochemical differences between patients with and without GO.Results: Thirty-nine percent of the patients had GO, and 81% of the GO patients were females. Of these, two patients showed unilateral GO. Triiodothyronine (T3) levels were higher in GO patients than in those without GO. Anti-thyroglobulin antibody and thyroid stimulating hormone receptor antibody titers were not significantly different between the two groups. Anti-thyroid peroxidase antibody (TPO Ab) positivity was 68% in the patients with GO and only 47% in the patients without GO. In multivariate regression analysis, high T3 levels and TPO Ab positivity were related to the presence of GO.Conclusion: In children and adolescents with GD, TPO Ab positivity and high T3 levels could act as predictive factors for the presence of GO.

作者： 刊期： 2014年第02期

Background: This study aimed to assess trends in gender differentials in child immunization beyond the conventional male-female dichotomy, by considering gender, surviving siblings, birth order and different compositions of older siblings in tandem, during 1990- 2007 in India and Pakistan.Methods: Using different rounds of Demographic and Health Survey datasets, we adopted the World Health Organization guidelines for appraising full immunization among children. Sex composition of surviving older siblings was combined. Cochrane-Armitage and the Chisquare tests were used to test linear and nonlinear trends, respectively.Results: Although child immunization has increased during the period of 1990-2007 in both India and Pakistan, results showed that more than 50% of the eligible children did not receive the recommended immunization. The results also showed that boys and girls with no older surviving siblings and those with only surviving siblings of the opposite sex appeared to have fully immunized proportionally compared with the children with other sibling compositions.Conclusion: The findings confirmed that girls and boys were not always treated equally, and that there was a clear pattern of selective neglect in child immunization in both countries during the period of 1990-2007.

作者： 刊期： 2014年第02期

Background: During the last years, human newborns have been overexposed to biologically reactive aluminum, with possible relevant consequences on their future health and on their susceptibility to a variety of diseases. Children, newborns and particularly preterm neonates are at an increased risk of aluminum toxicity because of their relative immaturity.Data sources: Based on recent original publications and classical data of the literatures, we reviewed the aluminum content in mother's food during the intrauterine life as well as in breast milk and infant formula during lactation. We also determined the possible role of aluminum in parenteral nutrition solutions, in adjuvants of vaccines and in pharmaceutical products. A special focus is placed on the relationship between aluminum overexposure and the insurgence of bone diseases.Results: Practical points of management and prevention are suggested. Aluminum sources that infants may receive during the fi rst 6 months of life are presented. In the context of prevention of possible adverse effects of aluminum overload in fetal tissues during development, simple suggestions to pregnant women are described. Finally, practical points of management and prevention are suggested.Conclusions: Pediatricians and neonatologists must be more concerned about aluminum content in all products our newborns are exposed to, starting from monitoring aluminum concentrations in milk- and soybased formulas in which, on the basis of recent studies, there is still too much aluminum.

作者： 刊期： 2014年第02期

Background: The purpose of this study was to report on the psychometric measures and discriminatory function of a new diagnostic test for autism spectrum disorders, the Clinical Autism Diagnostic Scale (CADS).Methods: The CADS was used to test 216 children in the study, including 86 with low-functioning autism specturm disorders (ASD), 16 children with highfunctioning ASD, 16 with pervasive developmental disorder, not otherwise specified, 7 with Asperger syndrome, 65 with typical development, 11 children with language impairments and 15 with intellectual disabilities. Ages ranged from 38-73 months. Behaviors for the groups were compared across seven domains.Results: The results indicated the instrument was reliable, valid, and successfully differentiated the different groups of children with and without autism. All ASD groups were found to display difficulties in the domains of sensory behaviors and stereotyped behaviors. The play and social domains were found to measure similar underlying concepts of behaviors, while the receptive language and expressive language domains were also found to measure similar underlying-language concepts. The group of children diagnosed as having low-functioning autism performed less well on all tested domains in the instrument than did the other three groups of children with ASD, and these other three groups each also presented unique patterns of behaviors and differed on individual domains.Conclusions: CADS is a reliable and valid test. It successfully differentiates the abilities of children with ASD at different levels of functioning.

作者： 刊期： 2014年第02期

Background: Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients.Data sources: Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy.Results: The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome.Conclusions: The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis.

作者： 刊期： 2014年第02期

Background: Although 99mTc-dimercaptosuccinic acid (DMSA) scan is considered the gold standard for the diagnosis of acute pyelonephritis (AP), sometimes it produces false results in children with clinical features of AP. There are no studies on the comparison of the sensitivity of DMSA and concentrating capacity test.Methods: Eighty-fi ve infants with AP of less than one year old were studied to evaluate whether they had real AP or not. Data were compared between infants with an abnormal (group A, n=64) and those with a normal DMSA scan (group B, n=21) respectively. A DDAVP test was performed for each infant.Results: All the infants in both groups presented a high level of C-reactive protein and fever (≥38oC). There were no differences in clinical and analytical variables except C-reactive protein level in the two groups. Both groups exhibited a low urinary osmolality (87.5% in the group A vs. 85.7% in the group B). The patients with normal DMSA and decreased concentrating capacity have some renal parenchymal damage and not only a lower urinary infection. Of the infants with an abnormal DMSA scan, 33.9% showed renal scars after 6-12 months. No infant with a normal DMSA scan showed scars. The biochemical variables in both groups of infants were not related to vesicoureteral refl ux.Conclusion: Infants with AP, normal DMSA scan and low concentrating capacity may be characterized by a localized infection in the medulla (medullonephritis) or by a false negative DMSA scan.

作者： 刊期： 2014年第02期

Background: Hyperbilirubinemia is a frequently seen condition in neonates. This study was undertaken to determine the role of urinary tract infections (UTIs) in the etiology of indirect hyperbilirubinemia in neonates with jaundice in their fi rst two weeks of life.Methods: The study was conducted prospectively. The subjects were neonates aged 4-14 days with hyperbilirubinemia which could not be detected by routine tests and was suffi ciently severe to necessitate phototherapy.Results: The study was performed in 104 neonates, of whom 18% (n=19) had UTI. The most frequently identified micro-organism was Escherichia coli (43%). Phototherapy duration and rebound bilirubin level were higher in neonates with UTI (P<0.05).Conclusion: UTI should be investigated in neonates with hyperbilirubinemia of unknown etiology in the fi rst two weeks of life.

作者： 刊期： 2014年第02期

Background: We determined the clinical and molecular genetic characteristics of 8 Chinese patients with Ullrich congenital muscular dystrophy (UCMD).Methods: Clinical data of probands were collected and muscle biopsies of patients were analyzed. Exons of COL6A1, COL6A2 and COL6A3 were analyzed by direct sequencing. Mutations in COL6A1, COL6A2 and COL6A3 were identifi ed in 8 patients.Results: Among these mutations, 5 were novel [three in the triple helical domain (THD) and 2 in the second C-terminal (C2) domain]. We also identified five known missense or in-frame deletion mutations in THD and C domains. Immunohistochemical studies on muscle biopsies from patients showed reduced level of collagen VI at the muscle basement membrane and mis-localization of the protein in interstitial and perivascular regions.Conclusions: The novel mutations we identified underscore the importance of THD and C2 domains in the assembly and function of collagen VI, thereby providing useful information for the genetic counseling of UCMD patients.

作者： 刊期： 2014年第02期

Background: Focal segmental glomerulosclerosis (FSGS) is the most common glomerular condition leading to end-stage renal disease (ESRD) and the third most common cause of ESRD in pediatric patients.Methods: This is a retrospective study consisting of 22 pediatric patients with FSGS and heavy proteinuria. After demonstrating steroids resistance, the patients were treated with tacrolimus, targeting a trough level 5-8 ng/ mL. The primary outcome is the induction of remission with tacrolimus.Results: Thirteen patients (59%) achieved remission (complete in 31.8% and partial in 27.2%) and 12 patients showed stable or improved renal function over an average follow-up of 2.9 years (range: 0.5-7 years). There was no significant difference in response rate between African American and Caucasian patients. None of the patients had significant side-effect to tacrolimus and none of the repeat biopsies showed an increase in interstitial fibrosis compared to baseline. The best renal outcome was for patients who achieved complete remission. Partially responsive patients had improved renal function compared with resistant patients.Conclusion: Tacrolimus is a viable option in the treatment of children with idiopathic steroid resistant FSGS.

作者： 刊期： 2014年第02期

Background: Neonates with ABO hemolytic disease are at greater risk for developing significant hyperbilirubinemia. We aimed to determine whether sixth hour transcutaneous bilirubin (TcB) could predict such a risk.Methods: TcB measurements were obtained at the 6th hour of life in blood group A or B neonates born to blood group O, rhesus factor compatible mothers. Subsequent hyperbilirubinemia was monitored and considered significant if a neonate required phototherapy/exchange transfusion. The predictive role of sixth hour TcB was estimated.Results: Of 144 ABO incompatible neonates, 41(OA, 24; O-B, 17) had significant hyperbilirubinemia. Mean sixth hour TcB was significantly higher among neonates who developed significant hyperbilirubinemia than those who did not (5.83±1.35 mg/dL vs. 3.65±0.96 mg/dL, P<0.001). Sixth hour TcB value >4 mg/dL had the highest sensitivity of 93.5% and >6 mg/dL had the highest specifi city of 99%. Area under receiver operating characteristic curve was 0.898.Conclusion: Sixth hour TcB predicts subsequent significant hyperbilirubinemia in ABO incompatible neonates.

作者： 刊期： 2014年第02期

作者： 刊期： 2014年第02期