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Nonsyndromic orofacial cleft (NSOFC) is a severe birth defect that occurs early in embryonic development and includes the subtypes cleft palate only (CPO), cleft lip only (CLO) and cleft lip with cleft palate (CLP). Given a lack of specific genetic factor analysis for CPO and CLO, the present study aimed to dissect the landscape of genetic factors underlying the pathogenesis of these two subtypes using 6,986 cases and 10,165 controls. By combining a genome-wide association study (GWAS) for specific subtypes of CPO and CLO, as well as functional gene network and ontology pathway analysis, we identified 18 genes/loci that surpassed genome-wide significance (P < 5 × 10−8) responsible for NSOFC, including nine for CPO, seven for CLO, two for both conditions and four that contribute to the CLP subtype. Among these 18 genes/loci, 14 are novel and identified in this study and 12 contain developmental transcription factors (TFs), suggesting that TFs are the key factors for the pathogenesis of NSOFC subtypes. Interestingly, we observed an opposite effect of the genetic variants in the IRF6 gene for CPO and CLO. Moreover, the gene expression dosage effect of IRF6 with two different alleles at the same single-nucleotide polymorphism (SNP) plays important roles in driving CPO or CLO. In addition, PAX9 is a key TF for CPO. Our findings define subtypes of NSOFC using genetic factors and their functional ontologies and provide a clue to improve their diagnosis and treatment in the future.

In leukemia, oral manifestations indicate aberrations in oral microbiota. Microbiota structure is determined by both host and environmental factors. In human hosts, how health status shapes the composition of oral microbiota is largely unknown. Taking advantage of advances in high-throughput sequencing, we compared the composition of supragingival plaque microbiota of acute lymphoblastic leukemia (ALL) pediatric patients with healthy controls. The oral microbiota of leukemia patients had lower richness and less diversity compared to healthy controls. Microbial samples clustered into two major groups, one of ALL patients and another of healthy children, with different structure and composition. Abundance changes of certain taxa including the Phylum Firmicutes, the Class Bacilli, the Order Lactobacillales, the Family Aerococcaceae and Carnobacteriaceae, as well as the Genus Abiotrophia and Granulicatella were associated with leukemia status. ALL patients demonstrated a structural imbalance of the oral microbiota, characterized by reduced diversity and abundance alterations, possibly involved in systemic infections, indicating the importance of immune status in shaping the structure of oral microbiota.

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Our purpose of this study was to investigate determinants and patterns of associations with high maternal mortality in poor and multiethnic populations from the Xinjiang Uigur autonomous region of Western China. The researcher found that the maternal mortality ratio of Xinjiang was very high; almost half of the participants delivered at home without clean delivery, and nearly one-fifth of the participants had not received any medical treatment. Eighty-seven percent of maternal deaths were among ethnic minority groups. In multiethnic areas in Xinjiang, social-culture factors, lack of health resources, and low health services utilization were related to high maternal mortality.

BackgroundSchool scoliosis screening has been carried out around the world. The screen program has never been performed on Chongming Island, the third largest island in China and characterized less population exchange with the rest of China. This study was designed to examine scoliotic parameters in children from Chongming Island and determine whether the parameters differed from those of the published data.MethodsA total of 6824 children (3477 boys and 3347 girls) aged from 6 to 17 were recruited. The screen included Adam’s test and scoliometer measurements. Posteroanterior radiographic evaluation was performed if trunk rotation was 5° or more.ResultsOne hundred seventy two were confirmed with Cobb angle of 10° or more; the prevalence was 2.52 %, higher in girls (3.11 %) than in boys (1.96 %) (p < 0.05). There was a weak positive correlation between prevalence and age. Majority curves were minor (from 10 to 19°). The most common thoracic curve was right curve (60.3 % of all thoracic curves), while the most common thoracolumbar (75.5 %) and lumbar curves (64.7 %) were left curves.ConclusionsThe prevalence of scoliosis on Chongming Island was 2.52 %. This study indicates that epidemiology of scoliosis has regional variation, and genetic differences may contribute such difference.Electronic supplementary materialThe online version of this article (doi:10.1186/s12891-016-1140-6) contains supplementary material, which is available to authorized users.

Introduction Behavior management of children during dental treatment is an important but challenging issue. As a new technique, VR has been applied in pediatric dental anxiety. But there is no final conclusion whether VR reduces children's dental anxiety. Methods The aim of the study is to assess the effectiveness of a digital intervention using virtual reality (VR) helmets on dental anxiety, pain perception, and behavior triggered for children, as well as occurrence of simulator sickness in local anesthesia and primary teeth extraction. A total of 128 children, who needed primary teeth extraction under local anesthesia, were randomly allocated into two groups: use VR helmets and traditional behavior guidance procedures (control). Modified Child Fear Survey Schedule Dental Subscale (CFSS‐DS), Wong‐Baker FACES Pain Scale, Houpt Scale, and Simulator sickness questionnaire (SSQ) were used to assess children's dental anxiety, pain perception, and behavior triggered and occurrence of simulator sickness. Results CFSS‐DS score in the VR group was significantly decreased after dental treatment (34.58±6.90 before operation and 32.32±15.58 after operation, p = .02). The score of Wong Baker Scale in the VR group (3.47±0.76) was significantly lower than that in the control group (5.56±1.13, p = .015). There was no significant difference in the Houpt Behavior Scale score and the SSQ score between the VR group and the control group (p = .35, p = .305). Conclusion The use of VR helmets in primary teeth extraction can significantly reduce dental anxiety and pain perception in children without occurrence of simulator sickness.

Background. Chemotherapy is the primary treatment modality used for patients with acute lymphoblastic leukemia (ALL), but inevitably causes microbiota-related oral complications. This study is aimed at investigating the effects of chemotherapy on oral health status, caries risk, and oral microbiome in pediatric patients with ALL. Methods. Thirty-nine children with ALL receiving chemotherapy were enrolled, and a gender-, age-, dentition stage, and socioeconomic class matched healthy counterpart were recruited. Demographic information and overall health condition were obtained through the questionnaire and medical records. Oral examination was performed to assess caries and salivary status, plaque index, and other oral manifestations. Cariogram was used to assess the overall caries risk. Supragingival samples of thirteen ALL subjects and their counterparts were randomly selected to perform a 16S ribosomal RNA gene 454 pyrosequencing. Raw sequence data were screened, trimmed, and filtered using Seqcln and MOTHUR. Results. The prevalence of dental caries, gingivitis, oral mucositis, xerostomia, and candidiasis in ALL groups was higher than that of the control group ( p < 0.05 ). Children with ALL demonstrated higher caries risk compared to healthy controls (HC) based upon Cariogram ( p < 0.05 ). The oral microbial structure of ALL patients receiving chemotherapy is different from that of healthy controls. Oral microbiota of ALL groups showed less alpha diversity and significant differences in the composition of the oral microbiome compared to healthy controls. Conclusions. ALL patients receiving chemotherapy demonstrated compromised oral health, high caries risk, alteration of caries-related factors, and dysbiosis of oral microbiota. These findings may be of clinical importance in developing better strategies for personalized preventive management of oral diseases for pediatric children with ALL.