Co ‐Occurrence Of Bronchıal Atresıa And Intrapulmonary Sequestration In Divergent Lobes
(Source: Congenital Anomalies)
Source: Congenital Anomalies - January 19, 2017 Category: Genetics & Stem Cells Authors: Nilg ün Kanlıoglu Kuman, Serdar Şen Tags: Note Source Type: research
Announcement
(Source: Congenital Anomalies)
Source: Congenital Anomalies - January 3, 2017 Category: Genetics & Stem Cells Tags: Message from the JTS Source Type: research
Impact of the introduction of Non ‐invasive prenatal genetic testing on invasive tests: A single‐center study in Japan
(Source: Congenital Anomalies)
Source: Congenital Anomalies - January 3, 2017 Category: Genetics & Stem Cells Authors: Masaki Sekiguchi, Aiko Sasaki, Seiji Wada, Nobuaki Ozawa, Haruhiko Sago Tags: Note Source Type: research
Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants
Abstract
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with Apert syndrome from 5 y...
Source: Congenital Anomalies - January 3, 2017 Category: Genetics & Stem Cells Authors: Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto ‐Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida Tags: Original Article Source Type: research
Dynamics of gyrification in the human cerebral cortex during development
This study quantitatively characterized cortical gyrus folding over human neocortical development by calculating the gyrification index (GI) in 22 human fetal specimens from 16 to 40 weeks with magnetic resonance imaging data. GI values remained constant at approximately 1.0 until the fetal specimens reached 500 g body weight and 200 mm crown‐rump length (CRL), respectively, and then increased in correlation with the body weight and CRL. The rostrocaudal GI distribution in the cerebral cortex revealed a correspondence of GI peaks with indentations of early‐generated primary sulci at 21 weeks of gestation and mo...
Source: Congenital Anomalies - January 3, 2017 Category: Genetics & Stem Cells Authors: Ririko Yoshida, Koichi Ishizu, Shigehito Yamada, Chigako Uwabe, Tomohisa Okada, Kaori Togashi, Tetsuya Takakuwa Tags: Original Article Source Type: research
Issue Information
Gyrification index (GI) of brain slices in a left lateral view of the brain in a 1409g fetus. The line graph above the brain shows the GI of each slice below it. The GI of the whole hemisphere changed in the rostro‐caudal dimension. Several maxima of the GI curve appeared in relation to gross landmarks. Further details can be seen in the article by Yoshida et al. in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 3, 2017 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Folate receptors and neural tube closure
Abstract
Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5–8/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure. Therefore, we examined spatial and temporal expression patterns of Folr1 ...
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Hirotomo Saitsu Tags: Mini –Review Article Source Type: research
Novel splice site mutation in EIF2AK3 gene causes Wolcott ‐Rallison syndrome in a consanguineous family from Saudi Arabia
(Source: Congenital Anomalies)
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Jumana Yousuf Al ‐Aama, Hams Saeed Al‐Zahrani, Musharraf Jelani, Hesham Salih Sabir, Saad Abdullah Al‐Saeedi, Saleem Ahmed Tags: Note Source Type: research
Medical cost savings in Sakado City and worldwide achieved by preventing disease by folic acid fortification.
Abstract
The introduction of mandatory fortification of grains with folate in 1998 in the United States resulted in 767 fewer spina bifida cases annually and a cost savings of $603 million per year. However, far more significant medical cost savings result from preventing common diseases, including myocardial infarction, stroke, dementia and osteoporosis. A cost‐effectiveness analysis showed a gain of 266,649 quality‐adjusted life‐years and $3.6 billion saved annually, mainly due to the reduction of cardiac infarction. The recommended folate intake in Japan is 240 µg//d whereas it is 400 µg//d internationally. ...
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Yasuo Kagawa, Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto Tags: Invited Review Article Source Type: research
Relationship between epigenetic regulation, dietary habits, and the Developmental Origins of Health and Disease theory
Abstract
Environmental stressors during developmental stages are hypothesized to increase the risk of developing metabolic diseases such as obesity, type 2 diabetes, hypertension, and psychiatric diseases during later life. This theory is known as the Developmental Origins of Health and Disease (DOHaD). Recent studies suggest that accumulation of environmental stress, including during developmental stages, is internalized as acquired information designated as “epigenetic memory.” This epigenetic memory is generally indicated as DNA methylation and histone modifications in the chromatin. In general, the demethylation of...
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Kazuki Mochizuki, Natsuyo Hariya, Kazue Honma, Toshinao Goda Tags: Invited Review Article Source Type: research
A patient with a novel purine ‐rich element binding protein A (PURA) mutation
We report a patient with a novel PURA mutation detected by whole‐exome sequencing. We suggest that PURA abnormality is a recognizable syndrome. (Source: Congenital Anomalies)
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki Tags: Case Report Source Type: research
Neurological Manifestations of 2q31 Microdeletion Syndrome
ABSTRACT
Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability. MRI showed delayed myelination and low signal intensity in th...
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto Tags: Case Report Source Type: research
Regional difference in sulcal infolding progression correlated with cerebral cortical expansion in cynomolgus monkey fetuses
Abstract
The present study aimed to specify the cerebral sulci developed by cortical expansion in cynomolgus monkey fetuses. The degree of sulcal infolding was evaluated by the gyrification index (GI), which was quantified using ex vivo MRI. The correlation of cortical volume with the sulcal GI was most frequent during embryonic days (EDs) 100 to 120. Interestingly, the high correlation was marked during EDs 140 to 150 in restricted primary sulci in prefrontal, parietotemporal and medial temporal regions. The present results suggest that cortical expansion is involved in gyral demarcation by sulcal infolding, followed by t...
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Kazuhiko Sawada, Katsuhiro Fukunishi, Masatoshi Kashima, Noritaka Imai, Shigeyoshi Saito, Ichio Aoki, Yoshihiro Fukui Tags: Short Communication Source Type: research
Abstracts
(Source: Congenital Anomalies)
Source: Congenital Anomalies - November 16, 2016 Category: Genetics & Stem Cells Tags: The Japanese Teratology Society 56th Annual Meeting, July 29 –31, 2016 Source Type: research
Announcement
(Source: Congenital Anomalies)
Source: Congenital Anomalies - November 16, 2016 Category: Genetics & Stem Cells Tags: Society News Source Type: research
