The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
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Regular Contribution
  • Reiko Sakama, Hirohide Yokokawa, Kazutoshi Fujibayashi, Toshio Naito, ...
    Type: Regular Contribution
    2019 Volume 249 Issue 2 Pages 85-92
    Published: 2019
    Released: October 11, 2019
    JOURNALS FREE ACCESS FULL-TEXT HTML

    The 2011 Great East Japan Earthquake was the largest and most catastrophic earthquake and tsunami in Japanese history. The aim of the present study was to evaluate the burden and psychological characteristics of children at 2 years after this catastrophe to allow a better understanding of the situation and the provision of appropriate support. We investigated a cross-sectional study carried out in 2013 by sending a questionnaire to schools located in Miyagi Prefecture to be answered by parents or guardians. The questionnaire included the Strengths and Difficulties Questionnaire (SDQ) to estimate the psychological adaptation of children. Telephone consultations were provided for children with SDQ scores > 16 whose parents or guardians had given consent. From the target population of 12,742, a total of 4,074 responses were received (response rate: 32%), among which, 720 had an SDQ score > 16 and received a telephone consultation. At the time of the telephone consultation, 301 (42%) of the 720 children and parents or guardians showed some type of psychological reaction and were thus classified as “Insufficient recovery”. Among these, 230 had not received social support at any point in time, suggesting the need for long-term psychological support. Those who resided in a coastal area tended to show a higher rate of psychological reactions than those in an inland area (27.1% vs. 12.9%, respectively). In conclusion, catastrophic disasters have a long-lasting psychological impact on children, and thus, long-term psychological support may be needed.

  • Xiaoyan Guo, Tengfei Shi, Mingrui Lin, Yiyuan Zhang
    Type: Regular Contribution
    2019 Volume 249 Issue 2 Pages 93-100
    Published: 2019
    Released: October 12, 2019
    JOURNALS FREE ACCESS FULL-TEXT HTML

    Synpolydactyly is a congenital limb malformation characterized by incomplete separation and duplication in fingers and/or toes, which is mainly caused by mutations in the homeobox D13 (HOXD13) gene. Here, a four-generation family with variant phenotypes of synpolydactyly was analyzed, in which the proband had bilateral preaxial synpolydactyly in toes with normal fingers, the father had clinodactyly in the fifth fingers, while the mother and grandma was normal. Trio whole-exome sequencing (trio-WES) is a high throughput sequencing targeting whole genome for detecting exonic variants from the proband and the parents in a family. Through trio-WES followed by Sanger sequencing and enzyme digestion, a heterozygous nonsense mutation (c.859 C>T/p.Gln287Ter) was newly identified in the homeodomain of the HOXD13 gene from the proband and the affected father, but not from the unaffected mother, the unaffected grandma, or the normal control. Mutation Taster, Human Splicing Finder and EX-SKIP predicted that the heterozygous mutation (c.859 C>T) would result in haploinsufficiency of HOXD13 protein through nonsense-mediated mRNA decay (NMD) and splicing abnormality, which might disrupt the integrity and reduce the expression level of the HOXD13 protein (loss-of-function). In short, a heterozygous nonsense mutation in the HOXD13 gene was newly identified in two patients with mild phenotypes of synpolydactyly, which extends the mutation spectrum in HOXD13 gene. Moreover, the findings we presented here deepen our understanding of the clinical consequences of non-syndromic synpolydactyly and may provide a new clue for further studies of the pathogenic mechanism of the mutation that causes aberrant splicing of HOXD13 gene.

  • Yuri Murayama, Ken Inoue, Chiho Yamazaki, Satomi Kameo, Minato Nakazaw ...
    Type: Regular Contribution
    2019 Volume 249 Issue 2 Pages 101-111
    Published: 2019
    Released: October 22, 2019
    JOURNALS FREE ACCESS FULL-TEXT HTML

    For the prevention of suicides, the early detection of depression symptoms and the implementation of suicide prevention measures based on the local community’s conditions are critical. In rural or remote communities with poor access to urban areas, the medical care is often insufficient. We conducted the present study to investigate the relationship between depressive state and social-environmental factors in a depopulated inland rural area in central Japan, where the suicide rate is high and specialized psychiatric care is not available. Using a correspondence analysis, logistic regression analysis, and structural equation modeling (SEM), we examined the questionnaire responses of 912 residents (average 60.5 years old). Total Health Index-Depression (THI-D) scale scores were used to measure depressive state. The lifestyle-related factor with the strongest link to depressive state was ‘concerns about interpersonal relationships’ (OR = 2.7, 95% CI: 2.06-3.53, p < 0.0001), whereas financial concerns, number of friends, exercise habits, and perceived amount of sleep were also useful for predicting depressive state. The SEM showed that one’s job and private life, particularly concerns about interpersonal relationships, are correlated with higher THI-D scores. Thus, social and lifestyle factors (e.g., concerns about interpersonal relationships and financial situation) can be used to predict depressive state in a depopulated rural area, and the newly revealed order in which depressive symptoms manifest is important. Our findings can be used to advance assessments of depressive symptoms and will be useful for mental health and suicide prevention.

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