Congenital Anomalies最新文献_第8页

Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome 与NF1 p.Met992del的框架内缺失相关的家族性卡萨姆-au- lae斑疹

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-01-13 DOI: 10.1111/cga.12506

Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki

引用次数: 0

Complementary mRNA expression of enzymes producing nitric oxide and prostaglandin in ductus arteriosus with respect to their role in maintaining patency 生成一氧化氮和前列腺素的酶在动脉导管中mRNA的互补表达及其维持通畅的作用

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-12-27 DOI: 10.1111/cga.12505

Rei Yamana, Shogo Kadota, Kazuaki Ishii, Takehito Suzuki, Yoko Miyazaki, Kazuaki Tanaka, Makoto Usami, Tatsuya Takizawa

引用次数: 0

Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth 小鼠阴道发育，胚胎后期侧边增大，出生后尾端伸长

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12502

Masayo Harada, Keiichi Akita

{"title":"Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth","authors":"Masayo Harada, Keiichi Akita","doi":"10.1111/cga.12502","DOIUrl":"10.1111/cga.12502","url":null,"abstract":"Müllerian ducts give rise to the oviducts, uterus, cervix, and vagina. During female reproductive tract development in mice, the bilateral Müllerian duct epithelium grows caudally until reaching the urogenital sinus epithelium. This is followed by further caudal growth with the reduction of the urogenital sinus epithelium. Finally, the vaginal epithelium of adult mice is entirely derived from the Müllerian duct epithelium. Here, we explored the mechanisms underlying mouse vaginal development via cell proliferation, apoptosis, and lineage analyses. We found that at the late embryonic stages, apoptosis occurred at the attachment site of bilateral Müllerian duct epithelia below the cervix, resulting in bilateral lumen traffic. The Müllerian duct epithelium was enclosed by the urogenital sinus epithelium at their boundary region on embryonic day (E) 16.5, whereas the Müllerian duct epithelium encased the urogenital sinus epithelium at postnatal day (P) 0 through lateral enlargement. Lateral Müllerian duct enlargement was accompanied by focal ERK activation within the curved epithelial tips and the specific localization of mitotic nuclei on the luminal side of the Müllerian duct epithelial layer at E17.5. Descent of the Müllerian duct epithelium and shortening of the urogenital sinus epithelium occurred rapidly after birth, accompanied by cell proliferation in the Müllerian duct epithelium and its peripheral mesenchymal tissues as well as intense apoptosis in the urogenital sinus epithelium around their boundary region. Urogenital sinus epithelium was localized at the base of the vagina at P7. In conclusion, the mouse vagina develops laterally at the late embryonic stages and caudally after birth.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 2","pages":"30-39"},"PeriodicalIF":1.3,"publicationDate":"2022-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12502","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9096261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Late-onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir 使用AABR检测先天性巨细胞病毒感染引起的迟发性先天性听力损失，使用缬更昔洛韦可改善

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12501

Chihiro Morimoto, Toshiya Nishikubo, Tadashi Nishimura, Tomoko Onishi, Masahiro Takeyama, Yumiko Uchida, Shintaro Otsuka, Toshiaki Yamanaka, Tadashi Kitahara

引用次数: 0

Prenatal diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection 妊娠早期感染SARS-COV-2后VACTERL相关性的产前诊断

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12503

Angel Chimenea, Lutgardo García-Díaz, Ana María Calderón, Guillermo Antiñolo

引用次数: 1

Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2 BICD2引起的常染色体显性遗传性脊髓性肌萎缩的声带麻痹。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12500

Sachiko Matsui, Sota Iwatani, Naoya Morisada, Toshiki Takenouchi, Seiji Yoshimoto

引用次数: 0

Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate 传统印模与口内扫描在单侧唇腭裂研究中的比较

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-11-12 DOI: 10.1111/cga.12499

Tomoyo Okazaki, Hitoshi Kawanabe, Kazunori Fukui

{"title":"Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate","authors":"Tomoyo Okazaki, Hitoshi Kawanabe, Kazunori Fukui","doi":"10.1111/cga.12499","DOIUrl":"10.1111/cga.12499","url":null,"abstract":"Patients with cleft lip and palate (CLP) encounter various problems, including disorders related to feeding, esthetics, and pronunciation. We compared two impression methods, conventional impression making and intraoral scanning, to study unilateral cleft lip and palate (UCLP). Patients with UCLP (n = 7) were selected, and palatal impressions were taken by two steps: (1) impressions were obtained using an addition silicone rubber impression material, and a plaster model was prepared and (2) optical impressions were obtained using a desktop three-dimensional (3D) scanner and stereolithography (STL). Data were generated by two impression system combinations through STL. The results were analyzed using the Kruskal–Wallis or Mann–Whitney U test. There were no significant differences in the dimensions of the models between both groups. The measured depth of the alveolar cleft defects was deeper in the plaster model group (STL) than in the intraoral scanner group (STL). Digital models may prevent the risk of aspiration and respiratory disorders by using impression materials for preoperative jaw treatment of newborns and infants. We compared the results of both impression methods in the same patient and found that a shift to the 3D printer model is a safe alternative for preoperative jaw correction, as evidenced from the amount of tissue displaced due to the pressure applied during impression taking. In the future, we would like to conduct clinical research with a larger sample size of CLP patients to further corroborate these findings.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 1","pages":"16-22"},"PeriodicalIF":1.3,"publicationDate":"2022-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12499","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9297908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

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IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-11-08 DOI: 10.1111/cga.12498

引用次数: 0

Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study 日本2011 - 2014年出生的248例唇腭裂患儿相关先天性异常及综合征的环境与儿童研究

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-09-23 DOI: 10.1111/cga.12496

Yukihiro Sato, Eiji Yoshioka, Yasuaki Saijo, Yasuhito Kato, Ken Nagaya, Satoru Takahashi, Yoshiya Ito, Sumitaka Kobayashi, Yu Ait Bamai, Keiko Yamazaki, Sachiko Itoh, Chihiro Miyashita, Atsuko Ikeda-Araki, Reiko Kishi, The Japan Environment and Children's Study (JECS) Group

{"title":"Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study","authors":"Yukihiro Sato, Eiji Yoshioka, Yasuaki Saijo, Yasuhito Kato, Ken Nagaya, Satoru Takahashi, Yoshiya Ito, Sumitaka Kobayashi, Yu Ait Bamai, Keiko Yamazaki, Sachiko Itoh, Chihiro Miyashita, Atsuko Ikeda-Araki, Reiko Kishi, The Japan Environment and Children's Study (JECS) Group","doi":"10.1111/cga.12496","DOIUrl":"10.1111/cga.12496","url":null,"abstract":"This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children's Study. Among 103 060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi-malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect). Regarding the cleft subtypes, of 248 infants with orofacial clefts, 104 had cleft lip with cleft palate (CLP) (41.9%), 68 had cleft lip without cleft palate (CL) (27.4%), 58 had cleft palate without cleft lip (CP) (23.4%), and 18 were nonclassified (7.3%). In infants with CLP, the proportions of isolated, multi-malformed, and syndromic phenotypes were 73.1%, 15.4%, and 11.5%, respectively. In infants with CL, the proportions were 79.4%, 16.2%, and 4.4%, respectively. In infants with CP, the proportions were 69.0%, 13.8%, and 17.2%, respectively. The most frequently associated congenital anomaly was congenital heart disease. In infants with syndromic CLP, 41.7% had trisomy 13. In infants with syndromic CP, 80.0% had the Pierre Robin sequence. Congenital heart disease could be the most frequently associated congenital anomaly. The most frequently associated syndrome could be trisomy 13 in those with CLP and Pierre Robin sequence in those with CP.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 1","pages":"9-15"},"PeriodicalIF":1.3,"publicationDate":"2022-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10839661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Fetoscopic surgery for amniotic band syndrome: Case series 胎镜手术治疗羊膜带综合征:病例系列

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-09-18 DOI: 10.1111/cga.12494

Şükran Doğru, Ali Acar

引用次数: 0