Congenital Anomalies最新文献_第6页

Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy 关于日本妊娠药物信息研究所咨询病例的背景和妊娠结果信息积累情况的调查

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-12-10 DOI: 10.1111/cga.12547

Naho Yakuwa, Atsuko Murashima, Seiko Miyazaki

{"title":"Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy","authors":"Naho Yakuwa, Atsuko Murashima, Seiko Miyazaki","doi":"10.1111/cga.12547","DOIUrl":"10.1111/cga.12547","url":null,"abstract":"Since pregnant women are excluded from clinical trials, it is essential to accumulate post-marketing information to evaluate the effects on the fetus of medication use during pregnancy. The Japan Drug Information Institute in Pregnancy (JDIIP) was established at the National Center for Child Health and Development as a Ministry of Health, Labour, and Welfare project to provide patients with information and conduct follow-up surveys. In this study, we investigated the status of the accumulation of JDIIP consultation cases to identify issues for enhancing clinical information appropriate for use during pregnancy and to examine how information should be collected and provided. In addition, the status of descriptions of Japanese package inserts, which are representative of those used by healthcare professionals as a source of information, was confirmed for medications used by JDIIP consultation cases. The characteristics of the JDIIP consultation cases information were that the contents that needed to be adjusted when evaluating the effects on the fetus of medication use during pregnancy were obtained. In addition, the follow-up rate was 83.1%. However, although the number of consultation facilities has increased, the number of consultations has not, indicating the need to further increase the number. It was found that there is limited information on epidemiological studies of clinical use in Japanese package inserts. To improve clinical information on the appropriate use of medications during pregnancy, it is necessary to accumulate more information in the future, and it is considered necessary to consider new approaches utilizing the JDIIP system.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 1","pages":"6-16"},"PeriodicalIF":1.3,"publicationDate":"2023-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138630116","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: 0

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis 一名先天性心脏缺陷和气管狭窄患者的 TBX5 致病变体

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-12-07 DOI: 10.1111/cga.12548

Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata

引用次数: 0

Acknowledgments 致谢

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-11-15 DOI: 10.1111/cga.12545

引用次数: 0

A retrospective review of the association between maternal body mass index and the risk of congenital anomalies 母体体重指数与先天性异常风险之间关系的回顾性研究。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-11-14 DOI: 10.1111/cga.12544

Vani C. Movva, Brooke Spangler, Amanda J. Young, Michael J. Paglia, Kajal Angras

{"title":"A retrospective review of the association between maternal body mass index and the risk of congenital anomalies","authors":"Vani C. Movva, Brooke Spangler, Amanda J. Young, Michael J. Paglia, Kajal Angras","doi":"10.1111/cga.12544","DOIUrl":"10.1111/cga.12544","url":null,"abstract":"The objective of the study was to examine the association of congenital anomalies with the specific classes of pre-pregnancy BMI. An IRB-approved retrospective cohort study was performed using the data from the Natality Public Use File from the National Center for Health Statistics (2019). We included all singleton live births and excluded pregnancies with suspected or confirmed chromosomal abnormalities and people with pre-existing diabetes mellitus and missing pertinent data. The primary outcome was the incidence of any major congenital anomalies in liveborn infants. The incidence of anomaly was analyzed across all BMI classes, using individuals with BMI between 18.5 and 24.9 kg/m2 as the comparison group. A test of trend was also performed to determine if the risk increased as the BMI class increased. A total of 3 047 382 maternal-neonatal dyads were included in the analysis. A non-significant higher incidence of any major anomaly was noted among people who had underweight and class III BMI. The risk of open neural tube defects, omphalocele, and cleft lip/palate increased and the risk of gastroschisis decreased with an increase in maternal BMI class (p < 0.05). The incidence of congenital anomalies increases as the pre-pregnancy BMI increases. Individuals should be encouraged to optimize their weight prior to conception and if feasible, they should obtain screening for fetal anatomy assessment by a Maternal-Fetal Medicine specialist.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 1","pages":"17-22"},"PeriodicalIF":1.3,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107593132","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: 0

Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies telepractice是2019冠状病毒病大流行期间的一种替代治疗工具，对与先天性异常相关的言语障碍的疗效。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-09-25 DOI: 10.1111/cga.12543

Toko Hayakawa, Hideto Imura, Chisako Inoue, Tomoko Mori, Yoshiko Aihara, Shion Tsujiuchi, Teruyuki Niimi, Nagato Natsume

引用次数: 0

Late diagnosis of Herlyn-Werner-Wunderlich syndrome: Is there a need for an early screening? Herlyn-Werner-Wunderlich综合征的晚期诊断：是否需要早期筛查？

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-09-22 DOI: 10.1111/cga.12542

Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah

{"title":"Late diagnosis of Herlyn-Werner-Wunderlich syndrome: Is there a need for an early screening?","authors":"Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah","doi":"10.1111/cga.12542","DOIUrl":"10.1111/cga.12542","url":null,"abstract":"Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly related to an abnormal development of the Mullerian ducts during organogenesis: it consists of uterovaginal duplication with obstructed hemivagina and unilateral renal agenesis. Its incidence varies between 0.1% and 3.8%. 1 Alterations in development of both Mullerian and Woll-fian ducts lead to this anomaly: uterovaginal duplication with obstructed hemivagina is the result of lateral nonfusion of the Mullerian ducts with asymmetric obstruction, while renal agenesis results from a defect in the development of the Wollfian duct. 2 Multiple environmental and genetic factors may be involved in its development. The age of presentation of HWW syndrome can vary according to the degree of vaginal obstruction. Usually, in cases with complete obstruction, patients present few months after menarche with recurrent pelvic pain due to hematocolpos during menses. However, the septum can be initially incomplete or gets perfo-rated if very thin, leading to incomplete obstruction. The presence of fen-estration as such can delay the diagnosis because fully distended hematocolpos and its related","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 6","pages":"219-220"},"PeriodicalIF":1.3,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41157910","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: 0

Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background 显性半鼻疽突变的杂合子小鼠的存活率取决于遗传背景。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-09-19 DOI: 10.1111/cga.12541

Jun-ichi Suto

引用次数: 0

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy 小鼠13号染色体隐性突变与毛发质地异常和心肌病相关。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-09-13 DOI: 10.1111/cga.12540

Jun-ichi Suto

引用次数: 0

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital 基于某三级儿童医院系列病例的口面裂产前诊断及家族史的思考

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-31 DOI: 10.1111/cga.12538

Tatiana Moreira, Margarida Dias, Madalena Von Hafe, Ana Rita Curval, Carla Ramalho, Ana Maria Maia, Carla Pinto Moura, Orofacial Cleft Team of University Hospital Center of São João, EPE

{"title":"Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital","authors":"Tatiana Moreira, Margarida Dias, Madalena Von Hafe, Ana Rita Curval, Carla Ramalho, Ana Maria Maia, Carla Pinto Moura, Orofacial Cleft Team of University Hospital Center of São João, EPE","doi":"10.1111/cga.12538","DOIUrl":"10.1111/cga.12538","url":null,"abstract":"Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one-fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; p < 0.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; p < 0.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 6","pages":"195-199"},"PeriodicalIF":1.3,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10119776","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: 0

An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft 一种易于使用的半自动容量评估方法用于单侧牙槽裂患者的二次植骨。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-16 DOI: 10.1111/cga.12534

Mizuki Teramoto, Motoki Katsube, Natsuko Utsunomiya, Yasuhiro Katayama, Hiroki Yamanaka, Itaru Tsuge, Yoshihiro Sowa, Michiharu Sakamoto, Naoki Morimoto

{"title":"An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft","authors":"Mizuki Teramoto, Motoki Katsube, Natsuko Utsunomiya, Yasuhiro Katayama, Hiroki Yamanaka, Itaru Tsuge, Yoshihiro Sowa, Michiharu Sakamoto, Naoki Morimoto","doi":"10.1111/cga.12534","DOIUrl":"10.1111/cga.12534","url":null,"abstract":"Surgical intervention for alveolar bone formation is important in patients with alveolar cleft; however, the treatment methods and materials are still controversial. A precise evaluation method for postoperative bone formation is important for comparing outcomes and establishing the best treatment protocol. The purpose of this study is to establish a new method of evaluating surgical outcomes for patients with alveolar cleft. Computed tomography datasets from 20 patients who underwent secondary alveolar bone grafting were obtained before and 1 year after surgery. Six anatomical landmarks were used to superimpose the preoperative and mirrored preoperative volume and postoperative volume data. The cleft region was segmented by subtracting the preoperative from mirrored preoperative volume data, and the failed osteogenesis region was segmented by subtracting the postoperative volume data from the cleft region; subsequently, the bone formation ratio was calculated. Two observers performed this method using a free software 3D slicer and the average evaluation times were 12.7 and 13.2 min for observers 1 and 2, respectively. Method reliability was determined by evaluating intraclass correlation coefficients. The intra-observer intraclass correlation coefficients were 0.97 and 0.96 for observers 1 and 2, respectively. The inter-observer intraclass correlation coefficient was 0.97. Our method is practical for assessing bone formation after treatment, which does not require specific knowledge or software and can be used by ordinary physicians.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 6","pages":"182-189"},"PeriodicalIF":1.3,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12534","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10011749","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