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  Subjects -> HUMANITIES (Total: 884 journals)
    - ASIAN STUDIES (157 journals)
    - CLASSICAL STUDIES (111 journals)
    - DEMOGRAPHY AND POPULATION STUDIES (145 journals)
    - ETHNIC INTERESTS (156 journals)
    - GENEALOGY AND HERALDRY (7 journals)
    - HUMANITIES (280 journals)
    - NATIVE AMERICAN STUDIES (28 journals)

HUMANITIES (280 journals)                  1 2     

Showing 1 - 71 of 71 Journals sorted alphabetically
Aboriginal and Islander Health Worker Journal     Full-text available via subscription   (Followers: 14)
Aboriginal Child at School     Full-text available via subscription   (Followers: 4)
About Performance     Full-text available via subscription   (Followers: 11)
Access     Full-text available via subscription   (Followers: 26)
ACCESS: Critical Perspectives on Communication, Cultural & Policy Studies     Full-text available via subscription   (Followers: 11)
Acta Academica     Full-text available via subscription   (Followers: 5)
Acta Universitaria     Open Access   (Followers: 4)
Adeptus     Open Access   (Followers: 1)
Advocate: Newsletter of the National Tertiary Education Union     Full-text available via subscription   (Followers: 2)
African and Black Diaspora: An International Journal     Hybrid Journal   (Followers: 11)
African Historical Review     Hybrid Journal   (Followers: 17)
AFRREV IJAH : An International Journal of Arts and Humanities     Open Access   (Followers: 2)
Agriculture and Human Values     Hybrid Journal   (Followers: 12)
Akademika : Journal of Southeast Asia Social Sciences and Humanities     Open Access   (Followers: 4)
Aldébaran     Open Access   (Followers: 3)
Altre Modernità     Open Access   (Followers: 3)
Amaltea. Revista de mitocrítica     Open Access   (Followers: 1)
American Imago     Full-text available via subscription   (Followers: 3)
American Journal of Humanities and Social Sciences     Open Access   (Followers: 10)
American Review of Canadian Studies     Hybrid Journal   (Followers: 7)
Anabases     Open Access  
Analyse & Kritik. Zeitschrift f     Full-text available via subscription   (Followers: 1)
Angelaki: Journal of Theoretical Humanities     Hybrid Journal   (Followers: 16)
Antik Tanulmányok     Full-text available via subscription  
Antipode     Hybrid Journal   (Followers: 47)
Anuario Americanista Europeo     Open Access  
Arbutus Review     Open Access  
Argumentation et analyse du discours     Open Access   (Followers: 6)
Ars & Humanitas     Open Access   (Followers: 7)
Arts and Humanities in Higher Education     Hybrid Journal   (Followers: 33)
Asia Europe Journal     Hybrid Journal   (Followers: 4)
Australasian Journal of Popular Culture, The     Hybrid Journal   (Followers: 2)
Behaviour & Information Technology     Hybrid Journal   (Followers: 52)
Behemoth     Open Access   (Followers: 3)
Bereavement Care     Hybrid Journal   (Followers: 10)
Cahiers de praxématique     Open Access   (Followers: 1)
Carl Beck Papers in Russian and East European Studies     Full-text available via subscription   (Followers: 5)
Child Care     Full-text available via subscription   (Followers: 8)
Choreographic Practices     Hybrid Journal   (Followers: 1)
Chronicle of Philanthropy     Full-text available via subscription   (Followers: 2)
Ciencias Sociales y Humanidades     Open Access   (Followers: 1)
Claroscuro     Open Access   (Followers: 1)
Co-herencia     Open Access  
Coaching: An International Journal of Theory, Research and Practice     Hybrid Journal   (Followers: 9)
Cogent Arts & Humanities     Open Access   (Followers: 3)
Colloquia Humanistica     Open Access  
Communication and Critical/Cultural Studies     Hybrid Journal   (Followers: 25)
Comprehensive Therapy     Hybrid Journal   (Followers: 3)
Congenital Anomalies     Hybrid Journal   (Followers: 1)
Conjunctions. Transdisciplinary Journal of Cultural Participation     Open Access   (Followers: 3)
Conservation Science in Cultural Heritage     Open Access   (Followers: 10)
Cornish Studies     Hybrid Journal   (Followers: 2)
Creative Industries Journal     Hybrid Journal   (Followers: 9)
Critical Arts : South-North Cultural and Media Studies     Hybrid Journal   (Followers: 11)
Crossing the Border : International Journal of Interdisciplinary Studies     Open Access   (Followers: 4)
Cuadernos de historia de España     Open Access   (Followers: 4)
Cultural History     Hybrid Journal   (Followers: 23)
Cultural Studies     Hybrid Journal   (Followers: 49)
Culturas     Open Access   (Followers: 1)
Culture, Theory and Critique     Hybrid Journal   (Followers: 25)
Daedalus     Hybrid Journal   (Followers: 21)
Dandelion : Postgraduate Arts Journal & Research Network     Open Access   (Followers: 2)
Death Studies     Hybrid Journal   (Followers: 16)
Debatte: Journal of Contemporary Central and Eastern Europe     Hybrid Journal   (Followers: 5)
Digital Humanities Quarterly     Open Access   (Followers: 54)
Diogenes     Hybrid Journal   (Followers: 8)
Doct-Us Journal     Open Access  
Dorsal Revista de Estudios Foucaultianos     Open Access  
e-Hum : Revista das Áreas de Humanidade do Centro Universitário de Belo Horizonte     Open Access   (Followers: 1)
Early Modern Culture Online     Open Access   (Followers: 39)
Égypte - Monde arabe     Open Access   (Followers: 4)
Eighteenth-Century Fiction     Full-text available via subscription   (Followers: 19)
Éire-Ireland     Full-text available via subscription   (Followers: 8)
En-Claves del pensamiento     Open Access   (Followers: 1)
Ethiopian Journal of the Social Sciences and Humanities     Full-text available via subscription   (Followers: 8)
Études arméniennes contemporaines     Open Access   (Followers: 1)
Études canadiennes / Canadian Studies     Open Access   (Followers: 1)
Études de lettres     Open Access   (Followers: 2)
European Journal of Cultural Studies     Hybrid Journal   (Followers: 26)
European Journal of Social Theory     Hybrid Journal   (Followers: 15)
Expositions     Full-text available via subscription  
Fronteras : Revista de Ciencias Sociales y Humanidades     Open Access   (Followers: 2)
Frontiers in Digital Humanities     Open Access  
Fudan Journal of the Humanities and Social Sciences     Hybrid Journal  
GAIA - Ecological Perspectives for Science and Society     Full-text available via subscription   (Followers: 4)
German Research     Hybrid Journal   (Followers: 1)
German Studies Review     Full-text available via subscription   (Followers: 26)
Germanic Review, The     Hybrid Journal   (Followers: 5)
Globalizations     Hybrid Journal   (Followers: 8)
Gothic Studies     Full-text available via subscription   (Followers: 15)
Gruppendynamik und Organisationsberatung     Hybrid Journal  
Habitat International     Hybrid Journal   (Followers: 5)
Hacettepe Üniversitesi Edebiyat Fakültesi Dergisi     Open Access   (Followers: 1)
Harvard Journal of Asiatic Studies     Full-text available via subscription   (Followers: 12)
Heritage & Society     Hybrid Journal   (Followers: 17)
History of Humanities     Full-text available via subscription   (Followers: 5)
Hopscotch: A Cultural Review     Full-text available via subscription  
Human Affairs     Open Access   (Followers: 1)
Human and Ecological Risk Assessment: An International Journal     Hybrid Journal   (Followers: 4)
Human Nature     Hybrid Journal   (Followers: 16)
Human Performance     Hybrid Journal   (Followers: 4)
Human Remains and Violence : An Interdisciplinary Journal     Full-text available via subscription  
Human Studies     Hybrid Journal   (Followers: 11)
humanidades     Open Access  
Humanitaire     Open Access   (Followers: 2)
Humanities     Open Access   (Followers: 11)
Hungarian Cultural Studies     Open Access  
Hungarian Studies     Full-text available via subscription  
Ibadan Journal of Humanistic Studies     Full-text available via subscription  
Inkanyiso : Journal of Humanities and Social Sciences     Open Access   (Followers: 1)
Inter Faculty     Open Access  
Interim : Interdisciplinary Journal     Open Access   (Followers: 3)
International Journal for History, Culture and Modernity     Open Access   (Followers: 6)
International Journal of Arab Culture, Management and Sustainable Development     Hybrid Journal   (Followers: 8)
International Journal of Cultural Studies     Hybrid Journal   (Followers: 24)
International Journal of Heritage Studies     Hybrid Journal   (Followers: 18)
International Journal of Humanities and Arts Computing     Hybrid Journal   (Followers: 13)
International Journal of Humanities and Cultural Studies     Open Access   (Followers: 3)
International Journal of Humanities of the Islamic Republic of Iran     Open Access   (Followers: 11)
International Journal of Listening     Hybrid Journal   (Followers: 4)
International Journal of the Classical Tradition     Hybrid Journal   (Followers: 12)
Interventions : International Journal of Postcolonial Studies     Hybrid Journal   (Followers: 15)
ÍSTMICA. Revista de la Facultad de Filosofía y Letras     Open Access   (Followers: 1)
Jangwa Pana     Open Access  
Jewish Culture and History     Hybrid Journal   (Followers: 18)
Journal de la Société des Américanistes     Open Access  
Journal des africanistes     Open Access   (Followers: 1)
Journal for Cultural Research     Hybrid Journal   (Followers: 11)
Journal for General Philosophy of Science     Hybrid Journal   (Followers: 6)
Journal for Learning Through the Arts     Open Access   (Followers: 7)
Journal for New Generation Sciences     Open Access   (Followers: 2)
Journal for Research into Freemasonry and Fraternalism     Hybrid Journal  
Journal for Semitics     Full-text available via subscription   (Followers: 5)
Journal Of Advances In Humanities     Open Access   (Followers: 2)
Journal of Aesthetics & Culture     Open Access   (Followers: 20)
Journal of African American Studies     Hybrid Journal   (Followers: 8)
Journal of African Cultural Studies     Hybrid Journal   (Followers: 5)
Journal of African Elections     Full-text available via subscription  
Journal of Arts & Communities     Hybrid Journal   (Followers: 4)
Journal of Arts and Humanities     Open Access   (Followers: 19)
Journal of Bioethical Inquiry     Hybrid Journal   (Followers: 3)
Journal of Cultural Economy     Hybrid Journal   (Followers: 9)
Journal of Cultural Geography     Hybrid Journal   (Followers: 22)
Journal of Data Mining and Digital Humanities     Open Access   (Followers: 27)
Journal of Developing Societies     Hybrid Journal   (Followers: 2)
Journal of Family Theory & Review     Hybrid Journal   (Followers: 3)
Journal of Franco-Irish Studies     Open Access   (Followers: 1)
Journal of Happiness Studies     Hybrid Journal   (Followers: 25)
Journal of Interactive Humanities     Open Access   (Followers: 3)
Journal of Intercultural Communication Research     Hybrid Journal   (Followers: 15)
Journal of Intercultural Studies     Hybrid Journal   (Followers: 12)
Journal of Interdisciplinary History     Hybrid Journal   (Followers: 24)
Journal of Labor Research     Hybrid Journal   (Followers: 19)
Journal of Medical Humanities     Hybrid Journal   (Followers: 22)
Journal of Medieval and Early Modern Studies     Full-text available via subscription   (Followers: 33)
Journal of Modern Greek Studies     Full-text available via subscription   (Followers: 4)
Journal of Modern Jewish Studies     Hybrid Journal   (Followers: 11)
Journal of Open Humanities Data     Open Access   (Followers: 1)
Journal of Semantics     Hybrid Journal   (Followers: 11)
Journal of the Musical Arts in Africa     Hybrid Journal   (Followers: 1)
Journal of Visual Culture     Hybrid Journal   (Followers: 30)
Journal Sampurasun : Interdisciplinary Studies for Cultural Heritage     Open Access  
Jurisprudence     Hybrid Journal   (Followers: 17)
Jurnal Sosial Humaniora     Open Access  
L'Orientation scolaire et professionnelle     Open Access   (Followers: 1)
La lettre du Collège de France     Open Access   (Followers: 1)
La Revue pour l’histoire du CNRS     Open Access   (Followers: 2)
Lagos Notes and Records     Full-text available via subscription  
Language and Intercultural Communication     Hybrid Journal   (Followers: 20)
Language Resources and Evaluation     Hybrid Journal   (Followers: 7)
Law and Humanities     Hybrid Journal   (Followers: 7)
Law, Culture and the Humanities     Hybrid Journal   (Followers: 12)
Le Portique     Open Access   (Followers: 1)
Leadership     Hybrid Journal   (Followers: 32)
Legal Ethics     Hybrid Journal   (Followers: 13)
Legon Journal of the Humanities     Full-text available via subscription  
Letras : Órgano de la Facultad de Letras y Ciencias Huamans     Open Access  
Literary and Linguistic Computing     Hybrid Journal   (Followers: 5)
Litnet Akademies : 'n Joernaal vir die Geesteswetenskappe, Natuurwetenskappe, Regte en Godsdienswetenskappe     Open Access  
Lwati : A Journal of Contemporary Research     Full-text available via subscription  
Measurement     Hybrid Journal   (Followers: 2)
Medical Humanities     Full-text available via subscription   (Followers: 22)
Medieval Encounters     Hybrid Journal   (Followers: 9)
Médiévales     Open Access   (Followers: 5)
Mélanges de la Casa de Velázquez     Partially Free   (Followers: 1)
Memory Studies     Hybrid Journal   (Followers: 35)
Mens : revue d'histoire intellectuelle et culturelle     Full-text available via subscription  
Messages, Sages and Ages     Open Access  
Mind and Matter     Full-text available via subscription   (Followers: 3)
Mneme - Revista de Humanidades     Open Access  
Modern Italy     Hybrid Journal   (Followers: 8)
Motivation Science     Full-text available via subscription   (Followers: 2)
Mouseion     Open Access   (Followers: 1)
Mouseion: Journal of the Classical Association of Canada     Full-text available via subscription   (Followers: 14)
Museum International Edition Francaise     Hybrid Journal   (Followers: 4)
National Academy Science Letters     Hybrid Journal   (Followers: 5)
Nationalities Papers     Hybrid Journal   (Followers: 7)
Natures Sciences Sociétés     Full-text available via subscription  
Neophilologus     Hybrid Journal   (Followers: 8)
New German Critique     Full-text available via subscription   (Followers: 12)

        1 2     

Journal Cover Congenital Anomalies
  [SJR: 0.352]   [H-I: 23]   [1 followers]  Follow
    
   Hybrid Journal Hybrid journal (It can contain Open Access articles)
   ISSN (Print) 0914-3505 - ISSN (Online) 1741-4520
   Published by John Wiley and Sons Homepage  [1579 journals]
  • Association of MEOX2 Polymorphism with Nonsyndromic Cleft Palate Only in a
           Vietnamese population
    • Authors: Duy Le Tran; Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham Thi Hong Nguyen, Phuong Thi Pham, Viet Hoang, Van Thi Tuyet Tran, Minh Duc Nguyen, Nagato Natsume
      Abstract: To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case–control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOneTM Realtime PCR system with TaqMan® SNP Genotyping Assays (Thermo Fisher). Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026 – 2.064) and p value 
      PubDate: 2017-10-14T05:10:21.296743-05:
      DOI: 10.1111/cga.12259
       
  • A novel AMER1 frameshift mutation in a girl with osteopathia striata with
           cranial sclerosis
    • Authors: Yumi Enomoto; Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
      Abstract: Osteopathia striata with cranial sclerosis (OSCS) (MIM #300373) is a rare X-linked dominant bone dysplasia characterized by cranial sclerosis and linear striations in the long bones of females, and fetal or neonatal lethality in affected males.
      PubDate: 2017-10-09T04:25:20.338768-05:
      DOI: 10.1111/cga.12258
       
  • Extracranial outflow of particles solved in cerebrospinal fluid:
           Fluorescein injection study
    • Authors: Takuya Akai; Toshihisa Hatta, Hiroki Shimada, Keiji Mizuki, Nae Kudo, Taizo Hatta, Hiroki Otani
      Abstract: Cerebrospinal fluid is thought to be mainly absorbed into arachnoid granules in the subarachnoid space and drained into the sagittal sinus. However, some observations such as late outbreak of arachnoid granules in fetus brain and recent cerebrospinal fluid movements study by magnetic resonance images, conflict with this hypothesis. In this study, we investigated the movement of cerebrospinal fluid in fetuses. Several kinds of fluorescent probes with different molecular weights were injected into the lateral ventricle or subarachnoid space in mouse fetuses at a gestational age of 13 days. The movements of the probes were monitored by live imaging under fluorescent microscope. Following intraventricular injection, the probes dispersed into the 3rd ventricle and aqueduct immediately, but did not move into the 4th ventricle and spinal canal. After injection of low and high molecular weight conjugated probes, both probes dispersed into the brain but only the low molecular weight probe dispersed into the whole body. Following intra-subarachnoid injection, both probes diffused into the spinal canal gradually. Neither probe dispersed into the brain and body. The probe injected into the lateral ventricle moved into the spinal central canal by the fetus head compression, and returned into the aqueduct by its release. We conclude this study as follows; 1) The movement of metabolites in cerebrospinal fluid in the ventricles will be restricted by molecular weight. 2) Cerebrospinal fluid in the ventricle and in the subarachnoid space move differently. 3) Cerebrospinal fluid may not appear to circulate. In the event of high intracranial pressure, the fluid may move into the spinal canal.
      PubDate: 2017-10-04T05:26:01.066966-05:
      DOI: 10.1111/cga.12257
       
  • Outcomes of an International Volunteer Surgical Project for Patients with
           Cleft Lip and/or Cleft Palate: A Mission in Developing Laos
    • Authors: Takahiro Goto; Kazuhide Nishihara, Keiichi Kataoka, Shinpei Goto, Tessho Maruyama, Hajime Sunakawa, Nagato Natsume, Akira Arasaki
      Abstract: Cleft lip and/or palate (CL/P) is a common birth defect of complex etiology. CL/P surgery is generally performed in infancy to allow for improvements in esthetics, suckling, and speech disorders as quickly as possible. We have engaged in activities such as free-of-charge surgery for CL/P a total of 12 times from 2001 to 2016 in Lao People's Democratic Republic (Laos). The United Nations has designated Laos as a Least Developed Country; it is one of the poorest countries in Asia. We have carried out our activities for a long time, primarily in CL/P patients who cannot undergo surgery for financial reasons, and we have performed CL/P-related surgeries for 283 patients up to 2016. When we began our activities in 2001, the mean age at first cheiloplasty was 11.6 years, which dropped over time until 2016 when the mean age was 1.8 years. A linear regression analysis showed a significant difference between the age at first lip plasty and the year of first operation (β = −0.35; P < 0.001). This was likely an effect of continuing to train local medical staff in surgical techniques and donating surgical tools and facilities over a period of 16 years while building a good relationship with local staff. However, the healthcare system in Laos is an obstacle to some patients who still cannot undergo CL/P surgery in infancy for financial reasons. We therefore need to support Laos to provide treatment on their own as we continue to carry out our activities for CL/P patients.
      PubDate: 2017-09-26T08:25:21.250575-05:
      DOI: 10.1111/cga.12255
       
  • “D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly”
    • Authors: Masato Takimoto
      Abstract: Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduction. More than a dozen loci encoding proteins of diverse function have been shown to be responsible for MCPH1-13. Mutations in the D40/KNL1/CASC5 gene, which was initially characterized as a gene involved in chromosomal translocation in leukemia and as a member of the cancer/testis gene family, was later found to encode a kinetochore protein essential for mitotic cell division and to cause MCPH4. Although our previous studies showed that this gene is required for cell growth and division in vitro and in animal experiments, the revelation that mutations in this gene caused microcephaly provides in vivo evidence of a critical role in brain growth. In this review, we describe mutated gene targets responsible for MCPH1-13 and summarize clinical studies of, and molecular and biological aspects of the gene and encoded protein responsible for MCPH4.
      PubDate: 2017-09-13T07:15:21.278686-05:
      DOI: 10.1111/cga.12252
       
  • A novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley
           syndrome
    • Authors: Toshiyuki Yamamoto; Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira
      Abstract: Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder related to thyroid transporter (monocarboxylate transporter 8: MCT8) deficiency (MIM #300523) (Allan et al. 1944). Mutations in the solute carrier family 16 member 2 (SLC16A2) gene, which encodes MCT8, are responsible for AHDS (Dumitrescu et al. 2004). Approximately, 100 different mutations have been identified. Here, we identified a novel SLC16A2 mutation in a patient with AHDS (Shimojima et al. 2016; Yamamoto et al. 2014).
      PubDate: 2017-09-01T06:30:46.937406-05:
      DOI: 10.1111/cga.12251
       
  • Retroperitoneal gastric duplication mimicking a prenatal adrenal cyst
    • Authors: Aurora Lucía Castillo-Fernández; Fernando Vázquez-Rueda, Mª Dolores Cañete, Javier Caballero-Villarraso
      Abstract: Duplications of the gastric tract are made up of a wide variety of masses throughout the gastrointestinal tract. They may have tubular or cystic morphology. Some duplications are associated with malformations, especially those located in the thorax, which can be associated with intestinal atresia, and malformations of the urinary tract or vetebras (Lund. 2012).
      PubDate: 2017-08-16T07:10:50.92719-05:0
      DOI: 10.1111/cga.12244
       
  • Re-evaluation of lung to thorax transverse area ratio immediately before
           birth in predicting postnatal short-term outcomes of fetuses with isolated
           left-sided congenital diaphragmatic hernia: a single center analysis
    • Authors: Saki Kido; Nobuhiro Hidaka, Yuka Sato, Yasuyuki Fujita, Kina Miyoshi, Kouji Nagata, Tomoaki Taguchi, Kiyoko Kato
      Abstract: We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into 2 groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the 2 groups who survived until discharge using Fisher's exact test. Further, using Spearman's rank correlation, we assessed whether LTR was correlated with length of stay, duration of mechanical ventilation, and supplemental oxygen. Twenty-nine subjects were included (5 with LTR < 0.08, and 24 with LTR ≥ 0.08). The proportion of subjects surviving until discharge was 40% (2/5) for patients with LTR < 0.08, as compared with 96% (23/24) for those with LTR ≥ 0.08. LTR measured immediately before birth was negatively correlated with the postnatal length of stay (Spearman's rank correlation coefficient, rs = −0.486), and the duration of supplemental oxygen (rs = −0.537). Further, the duration of mechanical ventilation was longer in patients with a lower LTR value. LTR immediately before birth is useful for the prediction of postnatal short-term outcomes in fetuses with isolated left-sided CDH. In particular, patients with prenatal LTR value less than 0.08 are at increased risk of postnatal death.
      PubDate: 2017-08-10T11:00:28.083419-05:
      DOI: 10.1111/cga.12243
       
  • Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation
    • Authors: Nobuhiko Okamoto; Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto
      Abstract: Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies. Therefore cardiac anomalies might be a important complication in patients with SOX11 mutations.
      PubDate: 2017-08-08T10:15:43.096807-05:
      DOI: 10.1111/cga.12242
       
  • Interkinetic nuclear migration in the tracheal and esophageal epithelia of
           the mouse embryo: Possible implications for tracheo-esophageal anomalies
    • Authors: Ryo Kaneda; Yuko Saeki, Dereje Getachew, Akihiro Matsumoto, Motohide Furuya, Noriko Ogawa, Tomoyuki Motoya, Ashiq Mahmood Rafiq, Esrat Jahan, Jun Udagawa, Ryuju Hashimoto, Hiroki Otani
      Abstract: Interkinetic nuclear migration (INM) is a cell polarity-based phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium in synchrony with the cell cycle. INM is suggested to be at least partially cytoskeleton-dependent and to regulate not only the proliferation/differentiation of stem/progenitor cells but also the localized/overall size and shape of organs/tissues. INM occurs in all three of the germ-layer derived epithelia, including the endoderm-derived gut. However, INM has not been documented in the esophagus and respiratory tube arising from the anterior foregut. Esophageal atresia with or without trachea-esophageal fistula (EA/TEF) is a relatively common developmental defect. Transcription factors and signaling molecules have been implicated in EA/TEF, but the etiology of EA/TEF—which has been suggested to involve cell polarity-related mechanisms—remains highly controversial. In the present study, we first examined whether INM exists in the trachea and esophagus of mouse embryos at embryonic day 11.5 (E11.5), just after separation of the two tubes from the anterior foregut. By labeling the DNA-synthesizing stem cell nuclei with 5-ethynyl-2'-deoxyuridine, a nucleotide analogue, and statistically analyzing chronological changes in the distribution pattern of the labeled nuclei by using multidimensional scaling, we showed the existence of INM in both the esophagus and trachea, with differences in the INM magnitude and cycle pattern. We further showed morphological changes from the INM-based pseudostratified single layer to the stratified multilayer in the esophageal epithelium in association with a temporal loss/perturbation of AB polarity, suggesting a possible relation with the pathogenesis of EA/TEF.
      PubDate: 2017-08-06T20:55:21.507206-05:
      DOI: 10.1111/cga.12241
       
  • Progressive subglottic stenosis in a child with Pallister-Killian syndrome
    • Authors: Tadashi Shiohama; Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo
      Abstract: Pallister-Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis.
      PubDate: 2017-07-26T07:45:25.108826-05:
      DOI: 10.1111/cga.12240
       
  • Unilateral Lung Agenesis, Aplasia or Hypoplasia – which one is
           it'
    • Authors: Khristopher M Nguyen; Snehal Vala, Sarah Milla, Lokesh Guglani
      Abstract: Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
      PubDate: 2017-07-25T07:35:40.625859-05:
      DOI: 10.1111/cga.12239
       
  • Preconceptional folic acid supplementation in Japan
    • Authors: Fumiki Hirahara; Haruka Hamanoue, Kentaro Kurasawa
      Abstract: Since 2000, preconceptional folic acid supplementation has been recommended in Japan. In Japan, lack of active campaign and attitude of women for folic acid intake has retained behind situation as compared to western countries. In the present review, we traced past and present practice and discuss the issues surrounding folate intake both before and after conception.
      PubDate: 2017-07-14T09:10:28.882065-05:
      DOI: 10.1111/cga.12238
       
  • Whole Genome SNP Genotyping in a Family Segregating Developmental
           Dysplasia of the Hip detected Runs of Homozygosity on Chromosomes 15q13.3
           and 19p13.2
    • Authors: Sulman Basit; Essa Alharby, Alia M. Albalawi, Khalid I. Khoshhal
      Abstract: Developmental dysplasia of the hip (DDH) is one of the most prevalent developmental orthopaedic diseases worldwide. DDH is a spectrum of anatomical abnormalities of the hip joint and is characterized by premature arthritis in later life. Sporadic cases have been reported more frequently, however, some studies have reported families segregating DDH. Studies have suggested that the genetic factors play a significant role in the development of DDH. In order to detect genetic defect underlying DDH, we performed Sanger sequencing of all DDH associated genes, whole genome SNP genotyping and exome sequencing in a Saudi family with 4 individuals having DDH. Sanger sequencing of all known genes did not identify any pathogenic variant. Genotype data analysis using HomozygosityMapper identified shared homozygous regions on chromosome 15q13.3 and chromosome 19p13.2 flanked by rs17228178-rs1534200 and rs466123-rs2112461, respectively. This data was also analysed by cnvpartition software for identification of DDH associated CNVs. A shared copy number gain of ~15 kb on chr6p21.32 (chr6:33,053,906-33,069,893) was discovered in all affected individuals. Partial gain of this region has also been found in unaffected sibling of this family. Exome data did not reveal any candidate sequence variant. Whole genome sequencing is required to identify deep intronic variants in the shared homozygous regions. Identification of genetic variants involved in pathogenesis of DDH may open up interesting perspectives into the function of the gene(s) in hip joint development.
      PubDate: 2017-07-10T17:55:48.431184-05:
      DOI: 10.1111/cga.12235
       
  • Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele
           firmly attached to the amniotic membrane: successful prenatal diagnosis
           and cesarean delivery
    • Authors: Tomonobu Kanasugi; Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
      PubDate: 2017-07-07T08:15:34.649375-05:
      DOI: 10.1111/cga.12237
       
  • Congenital duodenal and multiple jejunal atresia with malrotation in a
           patient with Down syndrome
    • Authors: Tsubasa Shironomae; Miwa Satomi, Tsuyoshi Kuwahara, Yoshitomo Yasui, Miyuki Kohno
      PubDate: 2017-07-04T22:50:21.868962-05:
      DOI: 10.1111/cga.12236
       
  • SIX3 Deletions and Incomplete Penetrance in Families Affected by
           Holoprosencephaly
    • Authors: Bethany Stokes; Seth I. Berger, Beth A. Hall, Karin Weiss, Donald W. Hadley, David R. Murdock, Subhadra Ramanathan, Robin D. Clark, Erich Roessler, Paul Kruszka, Maximilian Muenke
      Abstract: Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluated families with inherited HPE. Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a SIX3 hypomorph, and clinically significant variants in genes that are known to interact with SIX3 as causes of incomplete penetrance. We demonstrate the importance of molecular cascade testing in families with HPE and we answer important questions about incomplete penetrance.
      PubDate: 2017-07-02T21:05:22.40744-05:0
      DOI: 10.1111/cga.12234
       
  • The Nutritional Role of Folate
    • Authors: Shuhei Ebara
      Abstract: Folate functions as a coenzyme to transfer one-carbon units that are necessary for deoxythymidylate synthesis, purine synthesis, and various methylation reactions. Ingested folate becomes a functional molecule through intestinal absorption, circulation, transport to cells, and various modifications to its structure. Associations between nutritional folate status and chronic diseases such as cardiovascular disease, cancer, and cognitive dysfunction have been reported. It has also been reported that maternal folate nutritional status is related to the risk of neural tube defects (NTDs) in the offspring. It has also been recommended that folate be consumed in the diet to promote the maintenance of good health. To reduce the risk of NTDs, supplementation with folic acid (a synthetic form of folate) during the periconceptional period has also been recommended. This paper describes the basic features and nutritional role of folate.
      PubDate: 2017-06-11T22:40:25.320731-05:
      DOI: 10.1111/cga.12233
       
  • Genetic polymorphisms and folate status
    • Authors: Mami Hiraoka; Yasuo Kagawa
      Abstract: Moderate hyperhomocysteinemia-induced low folate status is an independent risk factor for cardiovascular disease, dementia, and depression. Folate is an essential cofactor in the one-carbon metabolism pathway and is necessary in amino acid metabolism, purine and thymidylate synthesis, and DNA methylation. In the folate cycle and homocysteine metabolism, folate, vitamin B12, vitamin B6, and vitamin B2 are important cofactors. Many enzymes are involved in folate transport and uptake, the folate pathway, and homocysteine (Hcy) metabolism, and various polymorphisms have been documented in these enzymes. Serum folate and total Hcy (tHcy) levels are influenced by folate intake and genetic polymorphisms in 5,10-methylenetertahydrofolate reductase (MTHFR) such as C677T. The prevalence of the MTHFR 677TT genotype varies across ethnic groups and regions, with a frequency of approximately 15% in Japanese populations. Individuals with the TT genotype have significantly higher tHcy levels and lower folate levels in serum than those with the CT and TT genotypes. However, administration of folic acid has been shown to eliminate these differences. Moreover, data have suggested that interventions based on genotype may be effective for motivating individuals to change their lifestyle and improve their nutrition status. Accordingly, in this review, we discuss the effects of MTHFR C677T polymorphisms on serum tHcy and folate levels with folic acid intervention and evaluate approaches for overcoming folic acid deficiency and related symptoms.
      PubDate: 2017-06-09T08:45:20.136181-05:
      DOI: 10.1111/cga.12232
       
  • Three-dimensional models of the segmented human fetal brain generated by
           magnetic resonance imaging
    • Authors: Yutaka Yamaguchi; Reina Miyazaki, Mikako Kamatani, Chigako Uwabe, Haruyuki Makishima, Momoko Nagai, Motoki Katsube, Akira Yamamoto, Hirohiko Imai, Katsumi Kose, Kaori Togashi, Shigehito Yamada
      Abstract: Recent advances in imaging technology have enabled us to obtain more detailed images of the human fetus in a nondestructive and noninvasive manner. Through detailed images, elaborate three-dimensional (3D) models of the developing brain can be reconstructed. The segmentation of the developing brain has been determined by serial sections. Therefore, in this study, we attempted to develop a 3D model of the fetal brain using magnetic resonance image (MRI). MR images from 19 specimens (11 embryonic specimens and eight fetal specimens from 5.2 to 225 mm in crown rump length) were used to reconstruct 3D models of regionalized developing brains. From this analysis, we succeeded in registering a maximum of nine landmarks on MR images and reconstructing 19 sequential models of the regionalized developing brain. To confirm the validity of the landmarks, we also compared our results with three serial sections from the Kyoto Collection; the same morphological characteristics were observed on both serial sections and MRI. The morphological minutiae could be found on MR images, and regionalized models of the developing brain could be reconstructed. These results will be useful for clinical diagnosis of living fetuses in utero.
      PubDate: 2017-05-11T05:55:40.740154-05:
      DOI: 10.1111/cga.12229
       
  • Effects of environmental enrichment on the activity of the amygdala in
           micrencephalic rats exposed to a novel open field
    • Authors: Wakoto Matsuda; Ayuka Ehara, Kazuhiko Nakadate, Kanji Yoshimoto, Shuichi Ueda
      Abstract: Environmental enrichment (EE) mediates recovery from sensory, motor, and cognitive deficits and emotional abnormalities. In the present study, we examined the effects of EE on locomotor activity and neuronal activity in the amygdala in control and methylazoxymethanol acetate (MAM)-induced micrencephalic rats after challenge in a novel open field. Control rats housed in EE (CR) showed reduced locomotor activity compared to rats housed in a conventional cage (CC), whereas hyperactivity was seen in MAM rats housed in a conventional cage (MC) and in MAM rats housed in EE (MR).Novel open field exposure in both CC and MC resulted in a marked increase in Fos expression in the anterior and posterior parts of the basolateral amygdaloid nucleus, basomedial nucleus, and medial nucleus, whereas these increases in expression were not observed in CR. The effect of EE on Fos expression in the amygdala was different in MR exposed to a novel open field compared to CR. Furthermore, we observed a quite different pattern of Fos expression in the central nucleus of the amygdala between control and MAM rats. The present results suggest that neuronal activity in the amygdala that responds to anxiety is altered in MAM rats, especially when the rats are reared in EE. These alterations may cause behavioral differences between control and MAM rats.
      PubDate: 2017-05-02T13:35:27.35716-05:0
      DOI: 10.1111/cga.12228
       
  • Neural Tube Defects: Risk Factors and Preventive Measures
    • Authors: Atsuo Kondo; Takuya Matsuo, Nobuhito Morota, Atsuya S. Kondo, Ikuyo Okai, Hiromi Fukuda
      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 importance of folic acid in the development of fetuses in the Mother-Child Health Booklet annually. Despite these endeavors, the prevalence of neural tube defects has remained unchanged. We discuss the risk factors of neural tube defects and propose preventive measures to decrease the number of neonates with neural tube defects. We believe that the government should implement the fortification of staple food with folic acid very soon, which will eventually decrease not only the neonatal mortality and morbidity, but also the economic burden on our health care system.
      PubDate: 2017-04-19T20:33:58.365602-05:
      DOI: 10.1111/cga.12227
       
  • Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal
           recessive woolly hair/hypotrichosis in consanguineous families
    • Authors: Farooq Ahmad; Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
      Abstract: Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p.Gln230*) in family A. In two other families, B and C, sequence analysis of the LPAR6 gene revealed a novel homozygous frameshift variant (c.68_69dupGCAT; p.Phe24Hisfs*29) and a previously reported missense variant (c.188A > T; p.Asp63Val), respectively. Taken together, our findings will expand the spectrum of variants reported in the LIPH and LPAR6 genes.
      PubDate: 2017-04-19T20:04:25.348533-05:
      DOI: 10.1111/cga.12226
       
  • Whole exome sequencing identified a novel single base pair insertion
           mutation in the EYS gene in a six generation family with retinitis
           pigmentosa
    • Authors: Jamil Amjad Hashmi; Maan Abdullah Albarry, Ahmed Almatrafi, Alia M. Albalawi, Amir Mehmood, Sulman Basit
      Abstract: Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. 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 individuals and showed that this mutation is segregating with RP phenotype in an autosomal recessive manner in 51 individuals of the family tested here. Our study expand the mutation spectrum of EYS gene in RP patients and extend the body of evidence that supports the importance of EYS gene in eye development.
      PubDate: 2017-04-16T22:55:44.464712-05:
      DOI: 10.1111/cga.12225
       
  • Survey on awareness of folic acid recognition and intake by female
           students
    • Authors: Takuya Matsuo; Yukiko Kagohashi, Yasuko Senga, Hiromi Fukuda, Keiko Shinozaki, Kumiko Takemori, Hiroki Otani, Atsuo Kondo
      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 importance of folic acid intake must be more aggressively promoted among female students. Thus, many learning opportunities should be provided for such students to help increase their folic acid intake.
      PubDate: 2017-04-05T02:05:40.423906-05:
      DOI: 10.1111/cga.12224
       
  • A prospective study on fetal posterior cranial fossa assessment for early
           detection of open spina bifida at 11-13 weeks
    • Authors: Semir Kose; Sabahattin Altunyurt, Pembe Keskinoglu
      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 cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and the non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt.
      PubDate: 2017-04-05T00:40:19.91058-05:0
      DOI: 10.1111/cga.12223
       
  • Medical cost savings in Sakado City and worldwide achieved by preventing
           disease by folic acid fortification
    • Authors: Yasuo Kagawa; Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto
      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 saving 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/day whereas it is 400 μg/day internationally. Our Sakado Folate Project targeted individuals with genetic polymorphism of methylenetetrahydrofolate reductase or with hyperhomocysteinemia. Using, for example, folate-fortified rice, resulted in an increase in serum folate and a decrease in serum homocysteine in the participants, and reduced medical costs were achieved by decreasing myocardial infarction, stroke, dementia and fracture. Due to the small population of Sakado City (approximately 101 000) and small number of births (693) in 2015, a decrease in spina bifida could not be confirmed but there was a significant decrease in the number of very low birthweight infants. The genome notification of subjects was effective in motivating intake of folate, but the increase in serum folate (from 17.4 to 22.5 nmol/L, 129%) was less than that observed following compulsory folic acid fortification of cereals in the USA (from 12.1 to 30.2 nmol/L, 149.6%). Mandatory folic acid fortification is cheap in decreasing medical costs and is thus recommended in Japan.
      PubDate: 2017-04-04T21:50:31.888107-05:
      DOI: 10.1111/cga.12215
       
  • A 10q21.3q22.2 microdeletion identified in a patient with severe
           developmental delay and multiple congenital anomalies including congenital
           heart defects
    • Authors: Keiko Shimojima; Nobuhiko Okamoto, Toshiyuki Yamamoto
      Abstract: Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4-Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one-to-one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative of the clinical features in this patient.
      PubDate: 2017-04-04T20:45:31.337868-05:
      DOI: 10.1111/cga.12221
       
  • Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison
           syndrome in a consanguineous family from Saudi Arabia
    • Authors: Jumana Yousuf Al-Aama; Hams Saeed Al-Zahrani, Musharraf Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed
      PubDate: 2017-03-29T02:30:24.903859-05:
      DOI: 10.1111/cga.12217
       
  • Patient with a novel purine-rich element binding protein A mutation
    • Authors: Nobuhiko Okamoto; Hideto Nakao, Tetsuya Niihori, Yoko Aoki
      Abstract: There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing. We suggest that PURA abnormality is a recognizable syndrome.
      PubDate: 2017-03-24T01:25:39.20142-05:0
      DOI: 10.1111/cga.12214
       
  • Neurological manifestations of 2q31 microdeletion syndrome
    • Authors: Nobuhiko Okamoto; Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto
      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. Magnetic resonance imaging showed delayed myelination and low signal intensity in the basal ganglia. The ZNF385B is a zinc finger protein expressed in brain. Disruption of ZNF385B was suspected to be responsible for the neurological features of this syndrome.
      PubDate: 2017-03-24T01:15:30.283468-05:
      DOI: 10.1111/cga.12212
       
  • Undernourishment in utero and hepatic steatosis in later life: A potential
           issue in Japanese people
    • Authors: Hiroaki Itoh; Keiko Muramatsu-Kato, Urmi J. Ferdous, Yukiko Kohmura-Kobayashi, Naohiro Kanayama
      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 by which undernourishment in utero primes adult hepatic steatosis, we developed a mouse model of fetal undernourishment with a hepatic fat deposit-prone phenotype on an obesogenic high fat diet in later life. We found that endoplasmic reticulum (ER) stress response parameters were activated concomitantly with the deterioration of hepatic steatosis and also that the alleviation of ER stress with the chemical chaperone, tauroursodeoxycholic acid (TUDCA), significantly improved hepatic steatosis. Therefore, undernourishment in utero may program the future integration of ER stress in the liver on an obesogenic diet in later life and also induce the deterioration of hepatic steatosis. These results also provide an insight into interventions for the potential high-risk population of NAFLD, such as those born small or exposed to maternal undernourishment during the fetal period, with the alleviation of ER stress by dietary supplements and/or specific food including chaperones.
      PubDate: 2017-03-22T21:40:36.226295-05:
      DOI: 10.1111/cga.12200
       
  • A novel FBN1 mutation in a family with inherited Marfan Syndrome:
           p.Cys2672Arg
    • Authors: Arda Cetinkaya; Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz
      PubDate: 2017-03-20T19:16:51.211563-05:
      DOI: 10.1111/cga.12220
       
  • Neural tube closure and embryonic metabolism
    • Authors: Yoshifumi Yamaguchi; Hidenobu Miyazawa, Masayuki Miura
      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 normally developing embryo remains unclear. State-of-the art mass spectrometry techniques have enabled detailed study of embryonic metabolite profiles and their distribution within tissues. This approach has demonstrated that glucose metabolism is altered during NTC stages involving chorioallantoic branching. An understanding of embryonic metabolic rewiring would help reveal the etiology of NTD caused by environmental factors.
      PubDate: 2017-03-13T13:30:24.548859-05:
      DOI: 10.1111/cga.12219
       
  • Folate receptors and neural tube closure
    • Authors: Hirotomo Saitsu
      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 in developing mouse embryos, showing a close association between Folr1 and anterior neural tube closure. Transient transgenic analysis was performed using lacZ as a reporter; we identified a 1.1-kb enhancer that directs lacZ expression in the neural tube and optic vesicle in a manner that is similar to endogenous Folr1. The 1.1-kb enhancer sequences were highly conserved between humans and mice, suggesting that human FOLR1 is associated with anterior neural tube closure in humans. Several experimental studies in mice and human epidemiological and genetics studies have suggested that folate receptor abnormalities are involved in a portion of human NTDs, although the solo defect of FOLR1 did not cause NTD.
      PubDate: 2017-02-28T02:20:56.336804-05:
      DOI: 10.1111/cga.12218
       
  • A contiguous gene deletion neighboring TWIST1 identified in a patient with
           Saethre-Chotzen syndrome associated with neurodevelopmental delay:
           possible contribution of HDAC9
    • Authors: Hiroko Shimbo; Tatsuki Oyoshi, Kenji Kurosawa
      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 suggested to contribute to developmental delay in SCS patients with 7p21 mirodeletions.
      PubDate: 2017-02-21T02:50:23.350442-05:
      DOI: 10.1111/cga.12216
       
  • Relationship between epigenetic regulation, dietary habits, and the
           Developmental Origins of Health and Disease theory
    • Authors: Kazuki Mochizuki; Natsuyo Hariya, Kazue Honma, Toshinao Goda
      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 CpG islands induces histone acetylation and associated changes from heterochromatin to euchromatin, and enhances transcriptional activation. These changes are induced by the binding of transcriptional factors to cis-elements located on promoter and enhancer regions and the associated binding of histone acetyl-transferase and the transcription initiation complex. Recent studies have demonstrated novel epigenetic modifications that regulate transcription elongation steps by activating histone acetylation and bromodomain-containing protein 4, which contains two bromodomains to bind acetylated histones, on the gene body (transcribed region). Gene expression alterations induced by carbohydrate signals and by changes to energy balance in the body are regulated by this model. In addition, induction of many metabolic genes, which are induced or reduced in adulthood by malnutrition during developmental stages, by intake of major nutrients, or development of lifestyle diseases in adulthood, are targeted by these novel epigenetic changes. In the present review, we introduce epigenetic regulations and the relationship with nutrient intake, and discuss links between epigenetic regulation and the development of metabolic diseases according to DOHaD.
      PubDate: 2017-02-07T06:35:32.726042-05:
      DOI: 10.1111/cga.12213
       
  • Issue Information
    • Pages: 125 - 127
      Abstract: Folate is one of the soluble vitamin B groups. Chemical structural features of the folate family include a pteridine ring (red), p-aminobenzoic acid (blue), and one or more gamma-linked glutamic acid residues (yellow). Natural folates found in foods occur mainly in the polyglutamate form, containing from 2 to 10 additional glutamate residues joined to the first glutamate. Upper: folic (pteroyl-L-glutamic) acid. Lower: polyglutamyl tetrahydrofolates. See related articles by Watanabe and by Ebara in this issue.
      PubDate: 2017-09-04T23:32:27.521997-05:
      DOI: 10.1111/cga.12185
       
  • Neural tube defects and folic acid in Japan: Prologue introduction -
           Understanding of the current status of Japan and the proposal from
           Japanese Teratology Society
    • Authors: Toshiaki Watanabe
      Pages: 128 - 129
      PubDate: 2017-09-04T23:32:26.602846-05:
      DOI: 10.1111/cga.12231
       
  • What is Accepted Articles?
    • PubDate: 2010-06-28T06:43:38.854363-05:
      DOI: 10.1111/j.1741-4520.2009.00240.x
       
 
 
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