Results 31 to 40 of about 938,719 (314)

Outcomes of Postnatal Myelomeningocele Repair in a Japanese Single-center Cohort: A Comparison with the Management of Myelomeningocele Study Trial

Neurologia Medico-Chirurgica
Fetal surgery for myelomeningocele is not yet standard practice in Japan. To establish baseline data for the outcomes of standard postnatal care for patients eligible for fetal surgery, we compared the results from our large, single-institution cohort ...
Kenichi USAMI, Seiji WADA, Katsusuke OZAWA, Haruhiko SAGO, Hideki OGIWARA   +4 more
doaj   +1 more source

Congenital high airway obstruction syndrome (CHAOS) combined with esophageal atresia, tracheoesophageal fistula and duodenal atresia

Journal of Pediatric Surgery Case Reports, 2017
Congenital high airway obstruction syndrome (CHAOS) is a rare congenital anomaly and the most common etiology is laryngeal atresia. Recently, an increasing number of cases have survived due to prenatal diagnosis and pre- and peri-natal care including ex ...
Yutaka Kanamori, Toshiko Takezoe, Kazunori Tahara, Toshihiko Watanabe, Michinobu Ohno, Kotaro Tomonaga, Katsuhiro Ogawa, Tomoro Hishiki, Akihiro Fujino, Yuri Ozawa, Shoichiro Amari, Hideshi Fujinaga, Yushi Ito, Osamu Miyazaki, Noriko Morimoto, Rika Sugibayashi, Katsusuke Ozawa, Seiji Wada, Haruhiko Sago   +18 more
doaj   +1 more source

Impact of maternal obesity and diabetes on fetal pancreatic development

, 2017
The global epidemics of obesity and type 2 diabetes (T2D) are serious threats to human health and health-care expenses. Although genetics is an important factor, it does not explain this dramatic increase that involves environmental factors such as ...
Iessi, Isabela [UNESP], Damasceno, Débora C. [UNESP], Nielsen, Jens H., Jaksch, Caroline   +3 more
core   +1 more source

Isolation of Nucleated Red Blood Cells With Intact Genomic DNA From Cord Blood by Applying G&T‐Seq

Reproductive Medicine and Biology
Purpose Fetal cells in maternal blood are a pure source of fetal genomic DNA for noninvasive prenatal testing (NIPT), if successfully isolated. We assessed whether single‐cell genome and transcriptome sequencing (G&T‐seq) can be applied to efficiently ...
Noriko Ito, Tatsuya Fujii, Kosuke Taniguchi, Yuka Okazaki, Hiroko Ogata‐Kawata, Haruhiko Sago, Kenichiro Hata, Kazuhiko Nakabayashi   +7 more
doaj   +1 more source

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Journal of Medical Case Reports, 2018
Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.
Yuko Ichimiya, Yuka Wada, Shinji Kunishima, Keiko Tsukamoto, Rika Kosaki, Haruhiko Sago, Akira Ishiguro, Yushi Ito   +7 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Molecular Genetics & Genomic Medicine
Background Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata‐Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata   +15 more
doaj   +1 more source

In utero exposure to di(n-butyl) phthalate and testicular dysgenesis:comparison of fetal and adult end points and their dose sensitivity [PDF]

, 2007
BACKGROUND: Fetal exposure of male rats to di(n-butyl) phthalate (DBP) induces reproductive disorders similar to those in human testicular dysgenesis syndrome (TDS), including infertility, cryptorchidism, focal "dysgenetic areas," and Sertoli cell-only ...
Mahood, I. Kim, Scott, Hayley M., Hayley M. Scott, Richard M. Sharpe, I. Kim Mahood, Nina Hallmark, Walker, Marion, Sharpe, Richard M., Hallmark, Nina, Richard Brown, Brown, Richard, Marion Walker   +11 more
core   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source