Congenital Anomalies最新文献_第2页

Feelings and thoughts about life selection in pregnant women undergoing non-invasive prenatal testing in Japan 日本接受无创产前检测的孕妇对生命选择的感受和想法。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-11-25 DOI: 10.1111/cga.12586

Eri Takeda, Nobuhiro Suzumori, Kyoko Kumagai, Chisato Komata, Yumiko Nishimura, Mayumi Sugiura-Ogasawara

{"title":"Feelings and thoughts about life selection in pregnant women undergoing non-invasive prenatal testing in Japan","authors":"Eri Takeda, Nobuhiro Suzumori, Kyoko Kumagai, Chisato Komata, Yumiko Nishimura, Mayumi Sugiura-Ogasawara","doi":"10.1111/cga.12586","DOIUrl":"10.1111/cga.12586","url":null,"abstract":"The objective of this study was to conduct qualitative research by clarifying the thoughts of pregnant women undergoing non-invasive prenatal testing (NIPT) in Japan, to collect evidence to provide information and psychosocial support in genetic counseling (GC). We attempted to conduct qualitative research to provide support for GC and the society in relation to children with special needs, by clarifying the thoughts of pregnant women undergoing NIPT. Between January 2016 and December 2017, we administered an open-ended questionnaire to pregnant Japanese women undergoing NIPT to clarify their ethical views in relation to children with special needs. The target population included 754 pregnant women who described their feelings and thoughts about undergoing NIPT and about children with special needs. Pregnant women undergoing NIPT have a variety of various mixed feelings and concerns. We classified the feelings and thoughts of pregnant women who underwent NIPT into the following four primary categories (multiple classifications): (1) perception about people with special needs (18.0%); (2) relation between NIPT and life selection (22.3%); (3) attitudes towards undergoing NIPT (47.5%); and (4) negative feelings and thoughts about raising children with special needs (48.1%). Most pregnant women undergoing NIPT expressed negative feelings and raising children with special needs. These feelings and thoughts may be one of the reasons why pregnant women undergo NIPT. In GC, it is important to also provide wide information on the social support and the current situation in the actual life of children with special needs.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717167","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

Acknowledgement 鸣谢

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-11-03 DOI: 10.1111/cga.12585

引用次数: 0

Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate 对腭裂远程治疗中使用的视频会议平台和设备造成的语音信号失真进行声学评估。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-10-08 DOI: 10.1111/cga.12584

Shiho Tajiri, Shunsuke Hidaka, Shuhei Takehisa, Sachiyo Hasegawa, Yukiko Ohyama, Tomohiro Yamada

{"title":"Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate","authors":"Shiho Tajiri, Shunsuke Hidaka, Shuhei Takehisa, Sachiyo Hasegawa, Yukiko Ohyama, Tomohiro Yamada","doi":"10.1111/cga.12584","DOIUrl":"10.1111/cga.12584","url":null,"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.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"242-253"},"PeriodicalIF":1.3,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12584","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395950","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}

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Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in-utero mycophenolate mofetil exposure 一名在子宫内接触过霉酚酸酯的新生儿出现泌尿生殖系统和颅面/颈胸椎异常。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-09-18 DOI: 10.1111/cga.12583

Sayu Omori-Shimano, Kazushige Ikeda, Jun Miyauchi, Maki Fukami

引用次数: 0

Congenital cytomegalovirus and pulmonary hypertension 先天性巨细胞病毒与肺动脉高压

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-09-04 DOI: 10.1111/cga.12580

Layah Alkoby-Meshulam, Jacob Amir, Daniel Lubin, Gil Klinger, Giora Guttesman, Samuel Zangen, Efraim Bilavsky

引用次数: 0

Non-progressive hepatic tumor with high levels of serum alpha-fetoprotein in two infants with trisomy 18 两名 18 三体综合征婴儿非进行性肝肿瘤伴高水平血清甲胎蛋白。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-08-29 DOI: 10.1111/cga.12582

Toshio Okamoto, Ken Nagaya, Mitsumaro Nii, Satoru Takahashi

引用次数: 0

Montelukast use in pregnancy: A systematic review and meta-analysis of maternal and fetal outcomes in asthma treatment 妊娠期使用孟鲁司特：对哮喘治疗中母体和胎儿结果的系统回顾和荟萃分析。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-08-11 DOI: 10.1111/cga.12581

Areeba Fareed, Dima Siblini, Rayyan Vaid, Hadi Farhat, Ahmad Rida, Abdulrahmon Moradeyo, Muhammad Ahsan Khan

{"title":"Montelukast use in pregnancy: A systematic review and meta-analysis of maternal and fetal outcomes in asthma treatment","authors":"Areeba Fareed, Dima Siblini, Rayyan Vaid, Hadi Farhat, Ahmad Rida, Abdulrahmon Moradeyo, Muhammad Ahsan Khan","doi":"10.1111/cga.12581","DOIUrl":"10.1111/cga.12581","url":null,"abstract":"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, I2 = 0%]. Montelukast may be associated with preterm delivery and a low birthweight odds ratio (OR) of 1.82 [95% CI (1.35, 2.45), p < 0.001, I2 = 0%]. No significant risks were found concerning neurodevelopmental outcomes. The associations with spontaneous abortion were inconclusive [OR = 1.03, 95% CI (0.72, 1.5), p = 0.86, I2 = 73%], highlighting the need for further research. This comprehensive review underscores the importance of further investigating the safety profile of montelukast during pregnancy. While the overall findings indicate a relatively favorable safety profile, especially regarding major CA, careful consideration is needed for the potential risks of preterm delivery and low birthweight.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"220-227"},"PeriodicalIF":1.3,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141918346","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

A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database 与丙戊酸相关的先天性斜视安全信号：利用 FDA 不良事件报告系统数据库进行药物警戒分析。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-07-31 DOI: 10.1111/cga.12579

Yuichi Uwai, Tomohiro Nabekura

引用次数: 0

Congenital three generation wide familial non-syndromic polydactyly 先天性三代宽家族性非综合症多指畸形。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-07-06 DOI: 10.1111/cga.12578

Özgür Agdoğan

{"title":"Congenital three generation wide familial non-syndromic polydactyly","authors":"Özgür Agdoğan","doi":"10.1111/cga.12578","DOIUrl":"10.1111/cga.12578","url":null,"abstract":"Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven't come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"228-234"},"PeriodicalIF":1.3,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545648","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

Pregnancy outcomes after first-trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions 第一孕期接触氟喹诺酮类药物后的妊娠结局：根据日本两家医疗机构的综合数据库得出的结论。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-06-27 DOI: 10.1111/cga.12577

Mikako Goto, Tatsuhiko Anzai, Ritsuko Yamane, Naho Yakuwa, Kunihiko Takahashi, Atsuko Murashima

{"title":"Pregnancy outcomes after first-trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions","authors":"Mikako Goto, Tatsuhiko Anzai, Ritsuko Yamane, Naho Yakuwa, Kunihiko Takahashi, Atsuko Murashima","doi":"10.1111/cga.12577","DOIUrl":"10.1111/cga.12577","url":null,"abstract":"Given the paucity of safety data on fluoroquinolone antibiotics in pregnancy, a prospective observational cohort study was conducted in pregnant women who sought help and advice on drug use at two teratology information institutes in Japan. The primary endpoint of the study was the incidence of major congenital anomalies. The study population included pregnant women exposed to (i) fluoroquinolones (fluoroquinolone group), (ii) β-lactams (infectious control group), or (iii) other agents considered to be nonteratogenic in humans (nonteratogenic control group) during the first trimester. The frequency of major congenital anomalies was compared across groups using a logistic regression model that adjusted for maternal age, smoking status, drinking status, facility consulted, and time of consultation. The fluoroquinolone group consisted of 411 women who had 383 children born alive. The infectious control and nonteratogenic control groups consisted of 1416 and 1482 women who had 1322 and 1401 children born alive, respectively. The incidence of major congenital anomalies was 1.5%, 2.0%, and 1.6% in the fluoroquinolone group, infectious control, and nonteratogenic control groups, respectively. Logistic regression showed that fluoroquinolone exposure is not a significant risk factor for major congenital anomalies. In conclusion, first-trimester exposure to fluoroquinolone antibiotics was not associated with increased maternal or fetal risks.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 5","pages":"199-206"},"PeriodicalIF":1.3,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12577","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473642","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