Congenital Anomalies最新文献_第9页

A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant 46,xy性发育障碍合并先天性心脏病由GATA4变异引起1例

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-24 DOI: 10.1111/cga.12482

Yui Shichiri, Yoshimi Kato, Hidehito Inagaki, Takema Kato, Naoko Ishihara, Masafumi Miyata, Hiroko Boda, Arisa Kojima, Misa Miyake, Hiroki Kurahashi

{"title":"A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant","authors":"Yui Shichiri, Yoshimi Kato, Hidehito Inagaki, Takema Kato, Naoko Ishihara, Masafumi Miyata, Hiroko Boda, Arisa Kojima, Misa Miyake, Hiroki Kurahashi","doi":"10.1111/cga.12482","DOIUrl":"10.1111/cga.12482","url":null,"abstract":"GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of GATA4 in a 46,XY DSD patient with an atrial septal defect, identified by whole-exome sequencing to be c.487C>T (p.Pro163Ser). This mutation resulted in reduced transcriptional activity of the downstream gene. When we compared this transcriptional activity level with other GATA4 variants, those that had been identified in patients with cardiac defects and DSD showed less activity than those in patients with cardiac defect only. This suggests that the normal development of the heart requires more strict regulation of GATA4 transcription than testicular development. Further, when the different variants were co-expressed with wild-type, the transcriptional activities were consistently lower than would be expected from an additive effect, suggesting a dominant-negative impact of the variant via dimer formation of the GATA4 protein. Since these pathogenic GATA4 variants are occasionally identified in healthy parents, a threshold model of quantitative traits may explain the cardiac defect or DSD phenotypes that they cause.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40398981","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: 3

Current activities between the DevTox Berlin workshops and the Japanese Teratology Society Terminology Committee in harmonizing the terminology for classifying anomalies in laboratory animals in developmental toxicity studies: Report from the Satellite Workshop of the 60th Annual Meeting of the Japanese Teratology Society DevTox柏林研讨会和日本畸形学会术语委员会在协调发育毒性研究中实验室动物异常分类术语方面的当前活动:来自日本畸形学会第60届年会卫星研讨会的报告

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-03 DOI: 10.1111/cga.12480

Makiko Kuwagata, Akira Sato, Yuko Izumi, Kazuhiro Chihara, Hanako Yamasaki, Yoshihiro Katsumata, Yojiro Ooshima, Jochen Buschmann, Michio Fujiwara

{"title":"Current activities between the DevTox Berlin workshops and the Japanese Teratology Society Terminology Committee in harmonizing the terminology for classifying anomalies in laboratory animals in developmental toxicity studies: Report from the Satellite Workshop of the 60th Annual Meeting of the Japanese Teratology Society","authors":"Makiko Kuwagata, Akira Sato, Yuko Izumi, Kazuhiro Chihara, Hanako Yamasaki, Yoshihiro Katsumata, Yojiro Ooshima, Jochen Buschmann, Michio Fujiwara","doi":"10.1111/cga.12480","DOIUrl":"https://doi.org/10.1111/cga.12480","url":null,"abstract":"In recent years, the Japanese Teratology Society has worked with the DevTox Berlin Workshops project to provide internationally consistent terminology for teratogenic effects. This paper summarizes a satellite workshop of the 60th Annual Meeting of the Japanese Teratology Society, which was entitled “Current activities between DevTox Berlin Workshops to develop a harmonized terminology for classifying anomalies in laboratory animals in developmental toxicity studies.” The Japanese Teratology Society - Laboratory Animal Terminology Project (JTS-LATP) reviewed “gray zone” anomalies and focused on developing criteria for reclassifying a large number of gray zone anomalies to clarify them and to make it easier to judge fetal categories. This effort will lead to international agreement, based on shared conceptions. The present article aimed to provide the reader with a summary of the issues discussed at the 2020 satellite meeting, which included discussions on open issues from the DevTox Berlin Workshops, ongoing work by the JTS-LATP on gray zone (GZ) anomalies, current industrial concerns, and future challenges.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137777134","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

Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing 微滴数字聚合酶链反应在无创产前检测中的应用评价

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-03 DOI: 10.1111/cga.12481

Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa

{"title":"Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing","authors":"Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa","doi":"10.1111/cga.12481","DOIUrl":"10.1111/cga.12481","url":null,"abstract":"Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the developing fetus like birth defects or genetic disorders. Considering the rising trend of genetic disorders, there is a need for a highly sensitive way of noninvasive prenatal testing (NIPT) that may reduce the incidence of unnecessary invasive procedures and iatrogenic fetal loss. The concept of NIPT for screening of genetic disorders is continuously evolving over the last two decades and multiple techniques have come up to utilize this in the field of FM. The crucial factor which decides the accuracy of NIPS is cell free fetal DNA (cffDNA) that is present in extremely low fraction (10%–15%) in the maternal plasma. Among the available methods, the next generation sequencing (NGS) is considered as the gold standard. However, the higher cost diminishes its utility in low-resource settings. Droplet digital Polymerase chain reaction (ddPCR), a type of digital PCR is a novel technique that is frugal, equally sensitive, less labor intensive, less time-consuming and plain algorithm dependent method for detecting cffDNA fraction. Considering these impressive attributes of ddPCR, we decided to critically review the existing literature on ddPCR for NIPT whilst highlighting the clinical utility, challenges and its advantages over NGS.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80827503","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: 1

The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two-centered cohort study in Japan 普鲁司特和孟鲁司特在妊娠早期的安全性:日本的一项前瞻性、双中心队列研究

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-10 DOI: 10.1111/cga.12471

Shiro Hatakeyama, Mikako Goto, Ayaka Yamamoto, Jiro Ogura, Norikazu Watanabe, Seiji Tsutsumi, Naho Yakuwa, Ritsuko Yamane, Satoru Nagase, Kunihiko Takahashi, Rika Kosaki, Atsuko Murashima, Hiroaki Yamaguchi

{"title":"The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two-centered cohort study in Japan","authors":"Shiro Hatakeyama, Mikako Goto, Ayaka Yamamoto, Jiro Ogura, Norikazu Watanabe, Seiji Tsutsumi, Naho Yakuwa, Ritsuko Yamane, Satoru Nagase, Kunihiko Takahashi, Rika Kosaki, Atsuko Murashima, Hiroaki Yamaguchi","doi":"10.1111/cga.12471","DOIUrl":"10.1111/cga.12471","url":null,"abstract":"For leukotriene receptor antagonists (LTRAs), especially pranlukast, safety data during pregnancy is limited. Therefore, we conducted a prospective, two-centered cohort study using data from teratogen information services in Japan to clarify the effects of LTRA exposure during pregnancy on maternal and fetal outcomes. Pregnant women who being counseled on drug use during pregnancy at two facilities were enrolled. The primary outcome of this study was major congenital anomalies. The incidence of major congenital anomalies in women exposed to montelukast or pranlukast during the first trimester of pregnancy was compared with that of controls. Logistic regression analysis was performed to analyze the effects of maternal LTRA use during the first trimester of pregnancy on major congenital anomalies. The outcomes of 231 pregnant women exposed to LTRAs (montelukast n = 122; pranlukast n = 106; both n = 3) and 212 live births were compared with those of controls. The rate of major congenital anomalies in the LTRA group was 1.9%. Multivariable logistic regression analysis revealed that LTRA exposure was not a risk factor for major congenital anomalies (adjusted odds ratio, 0.78; 95% confidence interval, 0.23–2.05; p = 0.653). In addition, no significant difference was detected in stillbirth, spontaneous abortion, preterm birth, and low birth weight between the two groups. The present study revealed that montelukast and pranlukast were not associated with the risk of major congenital anomalies. Our findings suggest that LTRAs could be safely employed for asthma therapy during pregnancy.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79867370","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: 1

Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles 过量的叶酸摄入与妊娠期营养不良相结合会改变后代的行为和大脑单胺谱

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-09 DOI: 10.1111/cga.12472

Tetsuo Ono, Kodai Hino, Tomoko Kimura, Yasuhiro Uchimura, Takashi Ashihara, Takako Higa, Hideto Kojima, Takashi Murakami, Jun Udagawa

{"title":"Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles","authors":"Tetsuo Ono, Kodai Hino, Tomoko Kimura, Yasuhiro Uchimura, Takashi Ashihara, Takako Higa, Hideto Kojima, Takashi Murakami, Jun Udagawa","doi":"10.1111/cga.12472","DOIUrl":"10.1111/cga.12472","url":null,"abstract":"Dietary folic acid augmentation during gestation reduces neurodevelopmental disorder risk in offspring; however, it is still unclear if excessive maternal folic acid intake can impair brain function in offspring. We examined if excessive folic acid intake throughout gestation altered the behavior of male offspring under poor nutrition during early gestation (E5.5–E11.5). Dams were divided into four groups: control (CON, 2 mg folic acid/kg of food), excessive folic acid fortification (FF, 10 mg folic acid/kg of food), undernutrition (UN, 40% food reduction from E5.5–E11.5), and excessive folic acid fortification plus undernutrition (UN-FF). Excess maternal folic acid fortification induced hyperactivity in the open-field and lower anxiety-like behavior in the elevated plus maze at 9 weeks of age. These behavioral changes were accompanied by reduced dopamine in the prefrontal cortex (PFC), norepinephrine in the amygdala, and 5-hydroxytryptamine (5-HT) in the dorsal midbrain (DM), PFC, and amygdala where 5-HT neurons project from the DM. Furthermore, canonical discriminant analysis, including dopamine and DOPAC concentrations in the PFC, norepinephrine concentrations in the PFC, amygdala, and pons, and 5-HT and 5-HIAA concentrations in the amygdala and DM, correctly classified 73.5% of the offspring in CON, FF, UN, and UN-FF groups. The first discriminant function mainly classified groups based on nutritional status, whereas the second function mainly classified groups based on folic acid intake. Our study suggests that combined transformations of brain monoamine profiles by maternal undernutrition and excess folic acid intake is involved in the behavioral alteration of offsprings.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84007765","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: 1

Fetal phenotype of SLC35A2-CDG: Enlarged cisterna magna on ultrasound SLC35A2-CDG胎儿表型:超声显示大池增大

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-09 DOI: 10.1111/cga.12473

Li Zhen, Gui-Lan Chen, Yan-Lin Li, Dong-Zhi Li

引用次数: 0

Upper lip abscess due to congenital sinus infection: A case report. 先天性鼻窦感染致上唇脓肿1例。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-02-17 DOI: 10.1111/cga.12459

Hideto Imura, Ichinnorov Chimedtseren, Hiroo Furukawa, Masaaki Ito, Nagato Natsume

引用次数: 0

Application of geometric morphometrics for facial congenital anomaly studies. 几何形态计量学在面部先天性异常研究中的应用。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-02-17 DOI: 10.1111/cga.12461

Motoki Katsube, Shigehito Yamada, Natsuko Utsunomiya, Naoki Morimoto

{"title":"Application of geometric morphometrics for facial congenital anomaly studies.","authors":"Motoki Katsube, Shigehito Yamada, Natsuko Utsunomiya, Naoki Morimoto","doi":"10.1111/cga.12461","DOIUrl":"https://doi.org/10.1111/cga.12461","url":null,"abstract":"The face is a small complex three-dimensional (3D) structure composed of various bones and essential organs. Congenital anomalies of those organs represent various deformities; therefore, their quantification has been challenging. Linear measurements, such as lengths or angles between landmarks, called conventional morphometrics, have been used to quantify their phenotypes usually using 2D images, such as photographs or X-ray images. During analysis, geometric information, which refers to the relative position of each structure, is lost. Geometric morphometrics (GM) uses shape configurations, including anatomical landmarks, which can retain geometric information throughout analysis and can help visualize the results, making it tremendously advantageous compared to conventional methods. Morphometric studies investigate variations within groups, identification of group differences, simulation of the ontogeny, or association with specific organs or genetic disorders, and GM can be applied to these purposes using multivariate statistical methods. The calculation of high-dimensional data is usually required and has prevented GM from becoming a major morphometric method. However, recent developments in computer technology and software have enabled us to perform it easily with ordinary home computers, and the number of morphometric studies applying GM for facial congenital anomalies has been increasing recently. In this article, we introduce the concept and application of GM and review previous morphometric studies with GM regarding congenital facial anomalies.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39602575","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: 5

Comparative study on detectability of learning and memory disorder between two water maze tests commonly used in juvenile rat toxicity studies using isoflurane inhaled rat model. 异氟醚吸入大鼠幼年毒性研究中常用的两种水迷宫实验对学习记忆障碍可探测性的比较研究。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-03-06 DOI: 10.1111/cga.12460

Hiroshi Mineshima, Hiroki Kimoto, Masaya Hitomi, Fumika Akizawa, Yui Terayama, Tsuyoshi Yoshikawa

{"title":"Comparative study on detectability of learning and memory disorder between two water maze tests commonly used in juvenile rat toxicity studies using isoflurane inhaled rat model.","authors":"Hiroshi Mineshima, Hiroki Kimoto, Masaya Hitomi, Fumika Akizawa, Yui Terayama, Tsuyoshi Yoshikawa","doi":"10.1111/cga.12460","DOIUrl":"https://doi.org/10.1111/cga.12460","url":null,"abstract":"Evaluation of learning and memory is crucial in juvenile animal toxicity studies (JAS) during the development of CNS active drugs, but there are no currently recommended test methods. We compared the ability of the Morris water maze (MWM) and the Biel water maze (BWM) to detect learning and memory disorder (LMD) using rats inhaled isoflurane (IFN). Rats were treated with 1% IFN using inhalation on postnatal day (PND) 7 for 6 h. All rats were subjected to the MWM on PND 33 and the BWM on PND 55/57 (Experiment 1), or the BWM on PND 32/33 and the MWM on PND 54/55 (Experiment 2). On PND 70, the brain was weighed and then neurohistopathology was conducted. There were no IFN-related changes in clinical signs and body weight. In the tests beginning on PND 32/33, the MWM clearly detected IFN-related LMD in both sexes whereas the BWM detected LMD only in males. With an additional benefit of a simpler procedure, the MWM was considered superior to the BMW for JAS. LMD was not detected in both mazes tested from PND 54/55/57, which was considered due to weak effect and/or recovery of brain function with growth. Single IFN inhalation on PND 7 was considered useful as positive control to induce LMD caused by postnatal exposure in rats, but stronger treatment regimens was recommended.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39761065","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

The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration. 第一例成人细胞色素P450氧化还原酶缺乏伴足精液量和精子浓度。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-03-25 DOI: 10.1111/cga.12464

Takeshi Sato, Tomohiro Ishii, Maki Fukami, Tsutomu Ogata, Tomonobu Hasegawa

引用次数: 1