Article
Veterinary Sciences
Marina Vilela Estevam, Samara Beretta, Nathalia F. Smargiassi, Maricy Apparicio, Gilson Helio Toniollo, Gener T. Pereira
Summary: The popularity of brachycephalic dogs has increased due to their temperament and unique features. However, the inbreeding and lack of genetic diversity in these breeds have led to an increase in the occurrence of malformations. This study found a high incidence of malformations in brachycephalic dogs, with cleft palate and anasarca being the most common types. Older bitches were more likely to give birth to malformed puppies. Brachycephalic breeds were more prone to malformations compared to other breeds, especially modern brachycephalic. The presence of malformed puppies in a litter causes suffering, highlighting the importance of veterinarians in preventing and treating these conditions.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Medicine, General & Internal
Jing Dong, Lin-Liang Yin, Xue-Dong Deng, Chun-Ya Ji, Qi Pan, Zhong Yang, Ting Peng, Jiang-Nan Wu
Summary: Early supplementation of folic acid (FA) during pregnancy reduces the risk of congenital malformations, especially heart defects. Starting FA supplementation 1.5 months before conception and continuing for 4 months is the optimal option for prevention of congenital malformations.
Article
Biochemistry & Molecular Biology
Manuel Mark, Marius Teletin, Olivia Wendling, Jean-Luc Vonesch, Betty Feret, Yann Herault, Norbert B. Ghyselinck
Summary: Anorectal malformations (ARMs) are common congenital abnormalities with poorly understood pathogenesis. Studies on mouse embryos have shown that the RAR signaling pathway is crucial for the formation of urogenital structures, with vascular abnormalities potentially being a cause of ARM.
Article
Environmental Sciences
Meiru Wang, Martin Rucklin, Robert E. Poelmann, Carmen L. de Mooij, Marjolein Fokkema, Gerda E. M. Lamers, Merijn A. G. de Bakker, Ernest Chin, Lilla J. Bakos, Federica Marone, Bert J. Wisse, Marco C. de Ruiter, Shixiong Cheng, Luthfi Nurhidayat, Martina G. Vijver, Michael K. Richardson
Summary: In this study, the researchers investigated the effects of polystyrene nanoparticles on chicken embryos. They found that these nanoparticles could cross the gut wall and distribute to multiple organs in the embryo. The exposure to polystyrene nanoparticles resulted in severe malformations, including congenital heart defects, by selectively binding to neural crest cells.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Cardiac & Cardiovascular Systems
David F. A. Lloyd, Milou P. M. van Poppel, Kuberan Pushparajah, Trisha V. Vigneswaran, Vita Zidere, Johannes Steinweg, Joshua F. P. van Amerom, Thomas A. Roberts, Alexander Schulz, Marietta Charakida, Owen Miller, Gurleen Sharland, Mary Rutherford, Joseph Hajnal, John M. Simpson, Reza Razavi
Summary: Novel fetal MRI techniques provide a new way to understand and accurately predict severe neonatal CoA, with reduced blood flow through the left heart associated with important configurational changes at the aortic isthmus in fetal life, predisposing to CoA when the arterial duct closes after birth.
CIRCULATION-CARDIOVASCULAR IMAGING
(2021)
Review
Dermatology
M. L. E. Stor, S. E. R. Horbach, M. M. Lokhorst, E. Tan, S. M. Maas, C. J. M. van Noesel, C. M. A. M. van der Horst
Summary: This systematic review provides a comprehensive overview of known causative mutations in genes in peripheral VMs and discusses the associations between causative mutations and clinical phenotypes. The findings suggest that different causative mutations in various genes contribute to the highly variable clinical characteristics of VMs, highlighting the importance of genotype in diagnostics and classification.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Pediatrics
Arash Bordbar, Mandana Kashaki, Maryam Vafapour, Amir A. Sepehri
Summary: Screening for critical congenital heart defects should be performed early to save lives and reduce the incidence of undetected adult congenital heart diseases. Using a certified and internationally patented digital intelligent phonocardiography machine, accurate screening for congenital heart malformations is possible. This study aimed to assess the incidence of heart defects in neonates and evaluate the prevalence of unrecognized severe and critical congenital heart defects.
FRONTIERS IN PEDIATRICS
(2023)
Article
Obstetrics & Gynecology
Ting Peng, Lin-Liang Yin, Yu Xiong, Feng Xie, Chun-Ya Ji, Zhong Yang, Qi Pan, Ming-Qing Li, Xue-Dong Deng, Jing Dong, Jiang-Nan Wu
Summary: This study compared the prevalence of congenital malformations between pregnant women with and without traditional Chinese medicine (TCM) exposure. It found that fetuses exposed to TCM had an increased risk of congenital malformations, especially for women who used TCM in early pregnancy or used multiple TCM formulas. Therefore, caution should be exercised when using TCM in pregnant women and those trying to become pregnant.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2023)
Article
Cardiac & Cardiovascular Systems
Naoko Yamaguchi, Ernest W. Chang, Ziyan Lin, Akshay Shekhar, Lei Bu, Alireza Khodadadi-Jamayran, Aristotelis Tsirigos, Yiyun Cen, Colin K. L. Phoon, Ivan P. Moskowitz, David S. Park
Summary: The study revealed the essential role of GATA6 and NKX2-5 in OFT development using mouse models, demonstrating the dependency between GATA6 and NKX2-5, and highlighting the impact of GATA6 on cardiac enhancers.
Article
Pediatrics
Kathryn Ford, Maria Peppa, Ania Zylbersztejn, Joe Curry, Ruth Gilbert
Summary: The study aims to determine the birth prevalence, maternal risk factors, and 5-year survival for isolated and complex anorectal malformations. The research found that complex anorectal malformations were associated with maternal age extremes and had lower 5-year survival rates, especially for preterm infants.
ARCHIVES OF DISEASE IN CHILDHOOD
(2022)
Article
Biology
Xiaoyu Che, Jufen Liu, Gabriel L. Galea, Yali Zhang, Nicholas D. E. Greene, Le Zhang, Lei Jin, Linlin Wang, Aiguo Ren, Zhiwen Li
Summary: Neural tube defects are severe congenital malformations, and folic acid supplementation can reduce their prevalence in northern China. The presence of comorbid malformations suggests a shared etiology.
Article
Pediatrics
Nianzhe Sun, Rui Liu, Gechang Cheng, Panfeng Wu, Fang Yu, Liming Qing, Lei Zeng, Xiaoyang Pang, Ding Pan, Yongbin Xiao, Umar Zeb Khan, Juyu Tang
Summary: This article reports three patients diagnosed with vascular malformations, who experienced progressive limb necrosis after undergoing sclerotherapy. The results suggest that although sclerotherapy is expected to become a first-line treatment in the future, there are still serious adverse reactions. Timely identification and management of complications such as limb necrosis can prevent amputation.
Article
Biochemistry & Molecular Biology
Haoran Wu, Han Wu, Yuxi He, Weiyue Sun, Yuanhui Meng, Bin Wen, Maoping Chu
Summary: Using next-generation sequencing, researchers have identified various novel GATA6 variants associated with congenital heart defects. However, functional assessment of these variants, especially those related to mild defects, has been lacking. This study assessed the functional consequences of nine rare GATA6 variants and found that two of them are pathogenic in mild congenital heart defects. These findings have implications for genetic counseling and pre-implantation genotyping in congenital heart defects.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Oncology
Bryan Sisk, Christine Bereitschaft, Anna Kerr
Summary: The study identified eight communication functions in families affected by VMs, with exchanging information and building relationships being the most commonly mentioned, while supporting hope and responding to emotions were mentioned less frequently. Future studies should develop patient-reported communication measures to quantify the fulfillment of these functions and to identify areas of communication in need of intervention.
PEDIATRIC BLOOD & CANCER
(2022)
Review
Cardiac & Cardiovascular Systems
Andrew D. Spearman, Salil Ginde
Summary: This review discusses the pulmonary vascular sequelae in patients with single ventricle congenital heart disease during surgical palliation. Pulmonary arteriovenous malformations and aortopulmonary collaterals are common complications. The review also highlights the need for further research in diagnostic testing and pathophysiology.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Article
Peripheral Vascular Disease
Mutsumi Araki, Takashi Hisamitsu, Yumi Kinugasa-Katayama, Toru Tanaka, Yukihiro Harada, Shu Nakao, Sanshiro Hanada, Shuhei Ishii, Masahide Fujita, Teruhisa Kawamura, Yoshihiko Saito, Koichi Nishiyama, Yusuke Watanabe, Osamu Nakagawa
Article
Genetics & Heredity
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara
AMERICAN JOURNAL OF HUMAN GENETICS
(2013)
Article
Evolutionary Biology
Leon Huynen, Takayuki Suzuki, Toshihiko Ogura, Yusuke Watanabe, Craig D. Millar, Michael Hofreiter, Craig Smith, Sara Mirmoeini, David M. Lambert
BMC EVOLUTIONARY BIOLOGY
(2014)
Article
Biochemistry & Molecular Biology
Stephane D. Vincent, Alicia Mayeuf-Louchart, Yusuke Watanabe, Joseph A. Brzezinski, Sachiko Miyagawa-Tomita, Robert G. Kelly, Margaret Buckingham
HUMAN MOLECULAR GENETICS
(2014)
Article
Biochemistry & Molecular Biology
Shin-ichi Inoue, Mitsuji Moriya, Yusuke Watanabe, Sachiko Miyagawa-Tomita, Tetsuya Niihori, Daiju Oba, Masao Ono, Shigeo Kure, Toshihiko Ogura, Yoichi Matsubara, Yoko Aoki
HUMAN MOLECULAR GENETICS
(2014)
Article
Multidisciplinary Sciences
Yusuke Watanabe, Stephane Zaffran, Atsushi Kuroiwa, Hiroaki Higuchi, Toshihiko Ogura, Richard P. Harvey, Robert G. Kelly, Margaret Buckingham
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2012)
Article
Multidisciplinary Sciences
Yusuke Watanabe, Kota Y. Miyasaka, Atsushi Kubo, Yasuyuki S. Kida, Osamu Nakagawa, Yoshikazu Hirate, Hiroshi Sasaki, Toshihiko Ogura
SCIENTIFIC REPORTS
(2017)
Article
Developmental Biology
Dai Ihara, Yusuke Watanabe, Daiki Seya, Yuji Arai, Yoshie Isomoto, Atsushi Nakano, Atsushi Kubo, Toshihiko Ogura, Teruhisa Kawamura, Osamu Nakagawa
DEVELOPMENTAL BIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Takekazu Miyoshi, Takashi Hisamitsu, Hatsue Ishibashi-Ueda, Kenji Ikemura, Tomoaki Ikeda, Mikiya Miyazato, Kenji Kangawa, Yusuke Watanabe, Osamu Nakagawa, Hiroshi Hosoda
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Yusuke Watanabe, Daiki Seya, Dai Ihara, Shuhei Ishii, Taiki Uemoto, Atsushi Kubo, Yuji Arai, Yoshie Isomoto, Atsushi Nakano, Takaya Abe, Mayo Shigeta, Teruhisa Kawamura, Yoshihiko Saito, Toshihiko Ogura, Osamu Nakagawa
JOURNAL OF BIOLOGICAL CHEMISTRY
(2020)
Article
Cell Biology
Daiki Seya, Dai Ihara, Teruhisa Kawamura, Yusuke Watanabe, Osamu Nakagawa
Summary: The transcription factor Hey2 plays a crucial role in right ventricle development during cardiac morphogenesis by mitigating Tbx2-dependent inhibition of Mycn expression. This was evidenced in Hey2 conditional knockout mice where anomalies commonly observed in Hey2 null mice were reproduced, including underdevelopment of the right ventricle due to ectopic induction of Tbx2 in the chamber myocardium.
DEVELOPMENT GROWTH & DIFFERENTIATION
(2021)
Article
Developmental Biology
Yumi Kinugasa-Katayama, Yusuke Watanabe, Takashi Hisamitsu, Yuichiro Arima, Norika M. Liu, Ayaka Tomimatsu, Yukihiro Harada, Yuji Arai, Akihiro Urasaki, Teruhisa Kawamura, Yoshihiko Saito, Osamu Nakagawa
Summary: The study highlights the significance of Tmem100 gene in embryonic vascular development and successfully replicates its expression profile using a novel EGFP reporter mouse line. The Tmem100-BAC-EGFP mice serve as a valuable tool for further research and comparative analysis of endothelial cell subgroups in embryonic vascular development.
Article
Cell Biology
Yukihiro Harada, Toru Tanaka, Yuji Arai, Yoshie Isomoto, Atsushi Nakano, Shu Nakao, Akihiro Urasaki, Yusuke Watanabe, Teruhisa Kawamura, Osamu Nakagawa
Summary: SGK1 is predominantly expressed in endothelial cells of mouse embryos, and its expression is maintained through at least two ETS-regulated enhancers, located in the proximal and distal regions. The presence of these enhancers is essential for the responsiveness to ERG, FLI1, and ETS1 proteins.
Article
Cardiac & Cardiovascular Systems
Yu Yoshida, Keiko Uchida, Kazuki Kodo, Reina Ishizaki-Asami, Jun Maeda, Yoshinori Katsumata, Shinsuke Yuasa, Keiichi Fukuda, Kenjiro Kosaki, Yusuke Watanabe, Osamu Nakagawa, Hiroyuki Yamagishi
Summary: This study used next-generation sequencing to analyze the genes of a familial case with complex congenital heart disease (CHD). Two rare variants in the NODAL and TBX20 genes were identified and found to affect downstream signaling pathways involved in heart development. These findings suggest that loss-of-function mutations in NODAL and TBX20 may contribute to the etiology of complex CHD associated with single ventricle defects in this family.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)