共查询到20条相似文献,搜索用时 0 毫秒
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Noel H. M. Burke 《BMJ (Clinical research ed.)》1957,1(5020):703-704
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Hiroshi Koga Koichi Iida Tomoki Maeda Mizuho Takahashi Naoki Fukushima Terufumi Goshi 《PloS one》2016,11(2)
To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by investigating NICU facilities where detailed examinations are thoroughly performed. 相似文献
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目的:唇腭裂是口腔颌面部最常见的先天性畸形,危害严重。mi RNA在细胞分化,生物发育及疾病发生发展过程中发挥巨大作用,越来越多的受到科研人员的关注。本课题对唇腭裂患儿下调表达的mi RNA与唇腭裂相关性进行验证研究,为mi RNA应用在唇腭裂防治中奠定一定的基础。方法:通过芯片分析方法检测唇腭裂患儿表达下调的mi RNA,利用MIRDB、TARGETSCAN-VERT和RNA22-HSA这三个生物信息学软件对唇腭裂患儿表达下调的mi RNA进行靶基因预测分析,验证候选mi RNA与唇腭裂具有相关性。结果:得出唇腭裂患儿中出现差异表达下调的mi RNA有hsa-mi R-3119,hsa-mi R-3915等73个,其中hsa-mi R-3611对应的靶基因GABRB3和hsa-mi R-764对应的靶基因F13A1有文献报道与唇腭裂具有相关性。结论:hsa-mi R-3611,hsa-mi R-764可能与唇腭裂的发生存在关联。 相似文献
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Thornley Stoker 《BMJ (Clinical research ed.)》1905,1(2321):1373-1375
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Charles M. Woolf 《American journal of human genetics》1963,15(4):389-393
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F. N. G. Starr 《BMJ (Clinical research ed.)》1907,1(2426):1532-1533
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Charles M. Woolf Robert M. Woolf T. Ray Broadbent 《American journal of human genetics》1963,15(2):209-215
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Thaleia Kouskoura Anastasiia Kozlova Maria Alexiou Susanne Blumer Vasiliki Zouvelou Christos Katsaros Matthias Chiquet Thimios A. Mitsiadis Daniel Graf 《PloS one》2013,8(3)
Palatogenesis is a complex process implying growth, elevation and fusion of the two lateral palatal shelves during embryogenesis. This process is tightly controlled by genetic and mechanistic cues that also coordinate the growth of other orofacial structures. Failure at any of these steps can result in cleft palate, which is a frequent craniofacial malformation in humans. To understand the etiology of cleft palate linked to the BMP signaling pathway, we studied palatogenesis in Bmp7-deficient mouse embryos. Bmp7 expression was found in several orofacial structures including the edges of the palatal shelves prior and during their fusion. Bmp7 deletion resulted in a general alteration of oral cavity morphology, unpaired palatal shelf elevation, delayed shelf approximation, and subsequent lack of fusion. Cell proliferation and expression of specific genes involved in palatogenesis were not altered in Bmp7-deficient embryos. Conditional ablation of Bmp7 with Keratin14-Cre or Wnt1-Cre revealed that neither epithelial nor neural crest-specific loss of Bmp7 alone could recapitulate the cleft palate phenotype. Palatal shelves from mutant embryos were able to fuse when cultured in vitro as isolated shelves in proximity, but not when cultured as whole upper jaw explants. Thus, deformations in the oral cavity of Bmp7-deficient embryos such as the shorter and wider mandible were not solely responsible for cleft palate formation. These findings indicate a requirement for Bmp7 for the coordination of both developmental and mechanistic aspects of palatogenesis. 相似文献