Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.

Congenital Anomalies is the official English-language journal of the Japanese Teratology Society, publishing original articles in both laboratory and clinical research across all areas of abnormal development and related fields from around the world. While contributions from members of teratology societies affiliated with The International Federation of Teratology Societies are prioritized, submissions from non-members are also welcomed.

《Congenital Anomalies》是日本畸形学会的官方英文期刊，发表来自全球各地的实验室和临床研究的原创文章，涵盖所有异常发育及相关领域。虽然优先考虑国际畸形学会联盟成员的投稿，但也欢迎非会员的贡献。

Congenital Anomalies

The cleft region (upper right red region) is segmented as the difference between the preoperative image (yellow) and the superimposed image of the mirrored preoperative image (red). Failed osteogenesis region (lower right red region) is segmented by subtracting postoperative CT image (blue) from the cleft region. In this case, osteogenesis does not occur near the nasal floor. Further details can be seen in the article by Teramoto in this issue. image

Mizuki Teramoto

Motoki Katsube

Natsuko Utsunomiya

Yasuhiro Katayama

Hiroki Yamanaka

Itaru Tsuge

Yoshihiro Sowa

Michiharu Sakamoto

Naoki Morimoto

Hammal Khan

Kifayat Ullah

Abid Jan

Hamid Ali

Imran Ullah

Wasim Ahmad

Tatiana Moreira

Margarida Dias

Madalena Hafe

Ana Curval

Carla Ramalho

Ana Maia

Carla Moura

Toko Hayakawa

Hideto Imura

Chisako Inoue

Tomoko Mori

Yoshiko Aihara

Shion Tsujiuchi

Teruyuki Niimi

Nagato Natsume

Xiang-Yi Jing

Li Zhen

Xiao-Mei Lin

Dong-Zhi Li

Hiroki Goto

Sota Iwatani

Toshihiko Ikuta

Seiji Yoshimoto

Wissam Arab

Yara Abdelkhalek

Antoine Zoghbi

David Atallah

Issue Information

问题信息

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/m

Vani C. Movva

Brooke Spangler

Amanda J. Young

Michael J. Paglia

Kajal Angras

A retrospective review of the association between maternal body mass index and the risk of congenital anomalies

母亲体重指数与先天畸形风险关联的回顾性研究

Abstract Congenital tracheal stenosis is a rare life‐threatening disorder caused by narrow O‐shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic TBX5 variant (NM_181486.4:c.680T&gt;C, p.(Ile227Thr)). The Ile227Thr‐TBX5 protein was predicted to have a decreased stability by in silico protein structural analyses, and was shown to have a significantly reduced activity for the NPPA promoter by luciferase assay. The results, together with the expression of mouse Tbx5 in the lung and trachea and the development of tracheal cartilage dysplasia in the lung‐specific Tbx5 null mice, imply the relevance of TBX5 pathogenic variants to congenital tracheal stenosis.

Kaori Yamoto

Fumiko Kato

Masaya Yamoto

Koji Fukumoto

Kenji Shimizu

Hirotomo Saitsu

Tsutomu Ogata

<scp><i>TBX5</i></scp> pathogenic variant in a patient with congenital heart defect and tracheal stenosis

<scp><i>TBX5</i></scp> 致病变异在一名先天性心脏病和气管狭窄患者中的病例报告

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.

Naho Yakuwa

Atsuko Murashima

Seiko Miyazaki

Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy

日本药物信息研究所在妊娠期咨询案例中背景信息和妊娠结局积累的调查

Congenital AnomaliesVolume 64, Issue 1 p. 4-5 EDITORIAL Directions for perinatal pharmacoepidemiology studies in Japan This article relates to: Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy Naho Yakuwa, Atsuko Murashima, Seiko Miyazaki, Volume 64Issue 1Congenital Anomalies pages: 6-16 First Published online: December 10, 2023 Taku Obara, Corresponding Author Taku Obara [email protected] orcid.org/0000-0002-3674-1674 Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan Division of Molecular Epidemiology, Graduate School of Medicine, Tohoku University, Sendai, Japan Department of Pharmaceutical Sciences, Tohoku University Hospital, Sendai, Japan Correspondence Taku Obara, Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai 980-8573, Japan. Email: [email protected]Search for more papers by this author Taku Obara, Corresponding Author Taku Obara [email protected] orcid.org/0000-0002-3674-1674 Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan Division of Molecular Epidemiology, Graduate School of Medicine, Tohoku University, Sendai, Japan Department of Pharmaceutical Sciences, Tohoku University Hospital, Sendai, Japan Correspondence Taku Obara, Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai 980-8573, Japan. Email: [email protected]Search for more papers by this author First published: 01 January 2024 https://doi.org/10.1111/cga.12549Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. CONFLICT OF INTEREST STATEMENT The author declares no conflict of interest. REFERENCES 1Yakuwa N, Murashima A, Miyazaki S. Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy. 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Taku Obara

Directions for perinatal pharmacoepidemiology studies in Japan

日本围产期药物流行病学研究指南

Abstract The usefulness and effectiveness of telepractice have been reported in recent years. Treatment of cleft palate patients with compensatory articulation is based on perceptual identification. Telepractice using videoconferencing platforms causes voice signal distortion and impacts auditory‐perceptual perception. This study aimed acoustically examine voice signal distortion and determine the optimal videoconferencing platforms, in addition to the phonemes that can be discriminated with the same quality as in face‐to‐face interactions. ATR503 with 50 phoneme‐balanced Japanese speech sentences was used as a reference corpus. Four videoconferencing platforms, —Zoom, Cisco Webex, Skype, and Google Meet, —and five devices, —iPhone, Android, iPad Air, Windows, and MacBook Pro were used as transmission conditions to examine voice signal distortions with the objective measure log‐spectral distortion (LSD). Tukey's test was conducted to evaluate the degree of consonant distortion related to voicings (voiceless and voiced), places of articulation (bilabial, alveolar, alveolo‐palatal, palatal, velar, labial‐velar, and glottal), and manners of articulation (plosive, fricative, affricate, tap or flap, nasal, and approximant). With statistically significant differences, voiced, bilabial, labial‐velar, nasal, and plosive consonants exhibited smaller distortions. In contrast, voiceless, alveolo‐palatal, fricative, and affricate consonants exhibited larger distortions. Google Meet exhibited the lowest distortion among videoconferencing platforms and MacBook exhibited the lowest distortion among devices. This study provides significant insights into the telepractice strategies with the appropriate videoconferencing platform and device, and useful settings for cleft palate patients with compensatory articulations with respect to acoustics.

Shiho Tajiri

Shunsuke Hidaka

Shuhei Takehisa

Sachiyo Hasegawa

Yukiko Ohyama

Tomohiro Yamada

Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate

视频会议平台和设备在腭裂远程实践中对语音信号失真的声学评估

Sayu Omori‐Shimano

Kazushige Ikeda

Jun Miyauchi

Maki Fukami

Congenit Anom (Kyoto)

Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure

新生儿宫内暴露于霉酚酸酯后的泌尿生殖系统和颅面/颈胸畸形

Abstract Lung involvement in children with congenital cytomegalovirus infection has been scarcely described. We describe three new cases of persistent pulmonary hypertension in children with congenital cytomegalovirus and review the other seven cases reported in the literature since 1988. All children had a symptomatic infection, including severe central nervous system or visceral findings. Morbidity and mortality were high. Persistent pulmonary hypertension may be a rare complication in severely symptomatic congenital cytomegalovirus infants. It is important to screen for congenital cytomegalovirus in cases of idiopathic refractory persistent pulmonary hypertension. Intensive treatment should be undertaken to treat this potentially rare lung involvement in combination with antiviral treatment.

Layah Alkoby‐Meshulam

Jacob Amir

Daniel Lubin

Gil Klinger

Giora Guttesman

Samuel Zangen

Efraim Bilavsky

Congenital cytomegalovirus and pulmonary hypertension

先天性巨细胞病毒与肺动脉高压

The authors declare no conflicts of interest.

Toshio Okamoto

Ken Nagaya

Mitsumaro Nii

Satoru Takahashi

Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18

两例18三体综合征婴儿中非进行性肝肿瘤伴高血清甲胎蛋白水平

This systematic review and meta-analysis evaluated the safety of montelukast in treating asthma during pregnancy, focusing on maternal and fetal outcomes such as congenital anomalies (CA), preterm delivery, low birthweight, spontaneous abortion, gestational diabetes mellitus, and preeclampsia. A comprehensive literature search was conducted in Google Scholar, PubMed, and the Cochrane Library databases from inception until April 30, 2024. The eligible studies assessed the safety of montelukast for asthma treatment during pregnancy. The review suggests that montelukast use during pregnancy may not significantly increase the risk of major CA. The pooled results yielded risk ratio (RR) for CA was 1.13 [95% CI (0.74, 1.73), p = 0.56, I

Areeba Fareed

Dima Siblini

Rayyan Vaid

Hadi Farhat

Ahmad Rida

Abdulrahmon Moradeyo

Muhammad Ahsan Khan

Montelukast use in pregnancy: A systematic review and meta‐analysis of maternal and fetal outcomes in asthma treatment

孟鲁司特在妊娠期使用：哮喘治疗中母体和胎儿结局的系统评价和荟萃分析

短名	Congenit. Anom. (Kyoto).
Journal Impact	1.21
国际分区	PEDIATRICS(Q3)
期刊索引	SCI Q4中科院 4 区

ISSN	0914-3505, 1741-4520
国内分区	医学(4区)医学儿科(4区)

涉及主题	医学生物遗传学怀孕化学内科学胎儿生物化学妊娠期基因解剖
出版信息	出版商: Wiley-Blackwell Publishing Ltd，出版周期: ，期刊类型: journal，开源期刊: 否
基本数据	创刊年份: 2021，原创研究文献占比: 80.77%，自引率:7.70%， Gold OA占比: 13.75%

Congenital Anomalies

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