Biological Understanding of Neurodevelopmental Disorders Based on Epigenetics, a New Genetic Concept in Education

Neurodevelopmental disorders, such as autism spectrum disorder, attention deficit hyperactive disorder, and learning disabilities, are heterogeneous conditions that are thought to have a multifactorial etiology including congenital genetic abnormalities and acquired environmental factors. Epigenetics is a biological mechanism that controls gene expression based on chemical modifications of DNA and chromosomal histone proteins. Environmental factors, such as severe mental stress, have been demonstrated to alter gene expression by changing epigenetic chemical modifications in the brain. Therefore, epigenetics is not only involved in congenital autism spectrum disorder-like conditions (e.g., Prader-Willi syndrome and Rett syndrome) but may also be involved in acquired attention deficit hyperactive disorder-like conditions (e.g., via child abuse and neglect). In this chapter, we introduce the basis of the epigenetic mechanism and the recent biological understanding of neurodevelopmental disorders based on epigenetics, which is a new genetic concept not only in medicine but also in education, which bridges internal brain mechanisms and external environmental factors

これからのDOHaD研究～エピゲノムの見地から～

第3回日本DOHaD研究会学術集会　抄録集　【学術集会長講演

Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD), but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P) H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there has been very little detailed analysis of the range of the deletion or close understanding of the disease based on this. We therefore analyzed genomic rearrangements in X-linked CGD using array comparative genomic hybridization analysis, revealing the extent and the types of the deletion genes. The subjects were five Japanese X-linked CGD patients estimated to have large base deletions of 1 kb or more in the CYBB gene (four male patients, one female patient) and the mothers of four of those patients. The five Japanese patients were found to range from a patient exhibiting deletions only of the CYBB gene to a female patient exhibiting an extensive DNA deletion and the DMD and CGD phenotype manifested. Of the other three patients, two exhibited CYBB, XK, and DYNLT3 gene deletions. The remaining patient exhibited both a deletion encompassing DNA subsequent to the CYBB region following intron 2 and the DYNLT3 gene and a complex copy number variation involving the insertion of an inverted duplication of a region from the centromere side of DYNLT3 into the deleted region

The joint impact on being overweight of self reported behaviours of eating quickly and eating until full : cross sectional survey

Objective To examine whether eating until full or eating quickly or combinations of these eating behaviours are associated with being overweight

ノウコウソク ノ チリョウ セイセキ ワ ナゼ コウジョウ シナイ ノカ : 10ネンカン ノ ヤマガタケン ノウソッチュウ トウロク データ カラ ノ ヨゴ フリョウ インシ ノ ケントウ

　We studied ten years of stroke data registered with the Yamagata Society on Treatment for Cerebral Stroke（YSTCS）. The subjects included 16,407 cases of acute-phase cerebral infarction that were registered with the YSTCS during the ten years between 2002 and 2011. The cases were divided into two groups: the early phase group（2002-2006）and the late phase group（2007-2011）.　The clinical diagnoses included atherothrombotic cerebral infarction（AT）（n=7,196; 43.9%）, cardiogenic cerebral embolism（CE）（n=4,011; 24.4%）, and lacunar infarction（LI）（n=4,703; 28.7%）. The average age of the early phase group was 72.7±11.43 years, while that of the late phase group was 75.0±11.35 years; the difference was statistically significant. The proportion of CE cases increased in the late phase, while that of LI decreased. This phenomenon was more marked in cases involving patients of ≥80 years of age. In both the early and late phase groups, the AT and CE cases showed a significantly high proportion of poor outcomes. However, when age adjustment was implemented in the late phase group, the treatment outcomes improved across all clinical entities. A multiple logistic regression analysis revealed a significant association between old age, female sex, severe symptoms at onset, CE, a previous history of stroke, and a poor prognosis.　It is clear that developments in medicine have not kept pace with the advancement in the age at onset. The improvement of the outcomes of treatment for cerebral infarction requires further developments in acute-phase therapies and the primary prevention of cardiogenic cerebral embolism, many cases of which are severe

Efficacy of Platelet-Rich Plasma for Bone Fusion in Transforaminal Lumbar Interbody Fusion

Study DesignRetrospective case series.PurposeTo examine the efficacy of platelet-rich plasma (PRP) for bone fusion in transforaminal lumbar interbody fusion (TLIF) using local bone grafting.Overview of LiteratureSeveral authors have reported the efficacy of PRP for bone union in animal models. However, the use of PRP for bone fusion in TLIF surgery has not been fully explored.MethodsTwenty patients underwent single-level TLIF surgery because of L4 spondylolisthesis. An interbody fusion cage and local bone were used in nine patients (control group) and an interbody fusion cage, local bone, and PRP were used in 11 patients (PRP group). PRP was prepared from the patients' blood samples (400 mL) immediately before surgery. The duration of bone union and postoperative bone fusion rate were assessed using plain radiography at every 3 months postoperatively and computed tomography at 12 or 24 months postoperatively, respectively. Lower back pain, leg pain, and leg numbness were evaluated using the visual analog scale preoperatively and at 3, 6, 12, and 24 months postoperatively.ResultsThe platelet count was 8.7 times higher in PRP than in blood. The bone union rate was significantly superior in the PRP group than in the control group (91% and 77%, respectively; p=0.035), whereas the average duration of bone union was not significantly different between the groups (7.7±0.74 and 10.0±2.00 months, respectively; p=0.131). There was no significant difference in lower back pain, leg pain, and leg numbness in both groups during follow-up (p>0.05).ConclusionsOur study suggests that the use of PRP in TLIF surgery increases bone fusion rate