Undernourishment in utero and hepatic steatosis in later life: A potential issue in Japanese people
Abstract
Nonalcoholic fatty liver disease (NAFLD) is a hepatic manifestation of metabolic syndrome. The prevalence of NAFLD in Japan has nearly doubled in the last 10–15 years. Increasing evidence supports undernourishment in utero being causatively connected with the risk of NAFLD in later life. Low body mass index (BMI) has been common among Japanese women of childbearing age for several decades due to their strong desire to be thin. It is plausible that insufficient maternal energy intake by pregnant Japanese women may underlie the rapid increase in the prevalence of NAFLD in Japan. In order to clarify the mechanisms...
Source: Congenital Anomalies - March 22, 2017 Category: Genetics & Stem Cells Authors: Hiroaki Itoh, Keiko Muramatsu ‐Kato, Urmi J. Ferdous, Yukiko Kohmura‐Kobayashi, Naohiro Kanayama Tags: Review Article Source Type: research
Announcement
(Source: Congenital Anomalies)
Source: Congenital Anomalies - March 6, 2017 Category: Genetics & Stem Cells Tags: Society News Source Type: research
Locus on chromosome 16 is significantly associated with increased tendency to lose pups in females of the RR/Sgn inbred mouse strain
Abstract
Females of the inbred mouse strain RR/Sgn have an apparent tendency to lose pups during rearing. To identify genes underlying this abnormal maternal phenotype, we performed quantitative trait loci (QTL) mapping in 349 (C57BL/6 J × RR/Sgn) F1 × RR/Sgn backcross mice and identified one significant and one suggestive QTL on chromosomes 16 and 4, respectively. We assigned the gene symbol nurturing ability QTL 3 (Naq3) to the QTL on chromosome 16. Twenty of the 21 mothers who lost entire litters were homozygous for RR/Sgn allele at Naq3; i.e., the significant association of Naq3 with pup loss was further confirm...
Source: Congenital Anomalies - March 6, 2017 Category: Genetics & Stem Cells Authors: Jun ‐ichi Suto Tags: Short Communication Source Type: research
Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly
Abstract
Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM). The calcarine sulcus development was divided into three categor...
Source: Congenital Anomalies - March 6, 2017 Category: Genetics & Stem Cells Authors: Hehong Li, Huiying Liang, Huiying Wu Tags: Original Article Source Type: research
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type ‐grebe in consanguineous families
Abstract
Acromesomelic dysplasia Grebe type (AMDG) is characterized by severe knob like non‐functional fingers and short acromesomelic limbs, and is inherited in an autosomal recessive manner. Disease causing sequence variants in the GDF5 (Growth Differentiation Factor 5) gene located on chromosome 20q11.22 are responsible for causing AMDG. In the study, presented here, two consanguineous families with AMDG were clinically and genetically characterized. After establishing linkage in the two families (A and B) to GDF5 gene on chromosome 20q11.22, Sanger DNA sequencing was performed in all available affected and unaffected...
Source: Congenital Anomalies - March 6, 2017 Category: Genetics & Stem Cells Authors: Muhammad Umair, Afzal Rafique, Asmat Ullah, Farooq Ahmad, Raja Hussain Ali, Abdul Nasir, Muhammad Ansar, Wasim Ahmad Tags: Original Article Source Type: research
Proposal for supplemental intake of folic acid to reduce the risk of neural tube defects
(Source: Congenital Anomalies)
Source: Congenital Anomalies - March 6, 2017 Category: Genetics & Stem Cells Tags: Message from the JTS Source Type: research
Issue Information
The result of G‐banding analysis using high resolution banding technique diagnosed as Miller‐Dieker Syndrome. The figure shows the unbalanced translocation between deleted short arm of chromosom 17 and Y chromosome, finally determined as 45, X, psu dic (17;Y)(p13;p11.32). Further details can be seen in the article by Mishima et al. in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 6, 2017 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Neural Tube Defects: Risk Factors and Preventive Measures
Abstract
For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, which has resulted in a significant reduction in the prevalence of neural tube defects. In 2000, the Japanese government recommended folic acid 400 µg daily for young women of childbearing age and women who are planning to conceive. In 2002, the government started to present information about the im...
Source: Congenital Anomalies - March 1, 2017 Category: Genetics & Stem Cells Authors: Atsuo Kondo, Takuya Matsuo, Nobuhito Morota, Atsuya S. Kondo, Ikuyo Okai, Hiromi Fukuda Tags: Invited Review Article Source Type: research
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa
This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP. WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8). Sanger sequencing validates the variant discovered through exome in all 12 affected i...
Source: Congenital Anomalies - March 1, 2017 Category: Genetics & Stem Cells Authors: Jamil Amjad Hashmi, Maan Abdullah Albarry, Ahmed Almatrafi, Alia M. Albalawi, Amir Mehmood, Sulman Basit Tags: Original Article Source Type: research
Survey on awareness of folic acid recognition and intake by female students
Abstract
To reduce the risk of neural tube defects, studies have been conducted on female students of medical services, nutritional science, and nursery education that investigated the awareness of folic acid by using questionnaires. Many investigators have suggested the need to provide detailed information about the awareness of folic acid and knowledge about folic acid intake and neural tube defect risk reduction. The dietary habits of female students showed a positive correlation with their estimated folic acid intake, suggesting that improvements in dietary habits are associated with the consumption of folic acid. The ...
Source: Congenital Anomalies - March 1, 2017 Category: Genetics & Stem Cells Authors: Takuya Matsuo, Yukiko Kagohashi, Yasuko Senga, Hiromi Fukuda, Keiko Shinozaki, Kumiko Takemori, Hiroki Otani, Atsuo Kondo Tags: Invited Review Article Source Type: research
A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11 ‐13 weeks
Abstract
To test three measurements; brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark; cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid‐sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior c...
Source: Congenital Anomalies - March 1, 2017 Category: Genetics & Stem Cells Authors: Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu Tags: Original Article Source Type: research
Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three ‐dimensional computerized tomography
This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome. From January 2002 to December 2011, 13 patients with Apert syndrome were operated and were followed up for more than five years. Nine patients underwent operations before 1 year of age (early surgery group) and 3 patients underwent operations later in life (late surgery group). They underwent fronto‐orbital advancement for primary surgery. We evaluated post‐operative developmental quotient every year and cephalic index (CI) measured by three‐dimensional computerized tomography (3D‐CT) at the age over 5 y...
Source: Congenital Anomalies - March 1, 2017 Category: Genetics & Stem Cells Authors: Shoichi Tomita, Takeshi Miyawaki, Yuichirou Nonaka, Shinsuke Sakai, Reiji Nishimura Tags: Original Article Source Type: research
A novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg
(Source: Congenital Anomalies)
Source: Congenital Anomalies - February 28, 2017 Category: Genetics & Stem Cells Authors: Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz Tags: Note Source Type: research
Neural tube closure and embryonic metabolism
Abstract
Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients. Although effects of these stress factors on NTC have been intensively studied, the metabolic state of a n...
Source: Congenital Anomalies - February 28, 2017 Category: Genetics & Stem Cells Authors: Yoshifumi Yamaguchi, Hidenobu Miyazawa, Masayuki Miura Tags: Invited Mini Review Source Type: research
A contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre ‐Chotzen syndrome associated with neurodevelopmental delay: possible contribution of HDAC9
Abstract
Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.
Haploinsufficiency of TWIST1, a basic helix–loop–helix transcription factor is responsible for SCS. Here, we report a 15‐month‐old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9‐Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included. In comparison with previously reported patients, HDAC9 was suggeste...
Source: Congenital Anomalies - February 20, 2017 Category: Genetics & Stem Cells Authors: Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa Tags: Case Report Source Type: research
