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Interaction cross sections (σI) for 22−35Na isotopes from the stability line to the vicinity of the neutron drip line have been measured at around 240 MeV/nucleon. The σI for 33−35Na were measured for the first time. Enhancement in cross sections is clearly observed from the systematics for stable nuclei, for isotopes with large mass numbers. From the known values of the nuclear-deformation parameters β2 of 22−31Na, these enhancement can be mainly ascribed to the nuclear deformation. Large enhancement in heavier isotopes suggest that these nuclei are strongly deformed. The root-mean-square (RMS) nuclear matter radii were deduced from the σI by using Glauber-type calculation. Furthermore, a monotonic growth of the neutron-skin thickness has been deduced with increasing neutron number for Na isotopes.

Reaction cross sections (σR) for 24–38Mg on C targets at the energies of around 240 MeV/nucleon have been measured precisely at RIBF, RIKEN for the purpose of obtaining the crucial information on the changes of nuclear structure in unstable nuclei, especially around the so-called “island of inversion” region. In the island of inversion region, which includes neutron-rich Ne, Na, and Mg isotopes, the vanishing of the N = 20 magic number for neutrons have been discussed along with nuclear deformation. The present result suggest deformation features of Mg isotopes and shows a large cross section of weakly-bound nucleus 37Mg, which could be caused by a neutron halo formation.

Unlabelled: 99mTc-Technegas (Tcgas) SPECT is useful for evaluating the patency of the airway and highly sensitive in detecting regional pulmonary function in pulmonary emphysema. The aim of this study is to evaluate regional ventilation impairment by this method pre and post thoracoscopic lung volume reduction surgery (LVRS) in patients with pulmonary emphysema.Methods: There were 11 patients with pulmonary emphysema. The mean age of patients was 64.1 years. All patients were males. LVRS was performed bilaterally in 8 patients and unilaterally in 3 patients. Post inhalation of Tcgas in the sitting position, the subjects were placed in the supine position and SPECT was performed. Distribution of Tcgas on axial images was classified into 4 types, A: homogeneous, B: inhomogeneous, C: hot spot, D: defect. Three slices of axial SPECT images, the upper, middle and lower fields were selected, and changes in deposition patterns post LVRS were scored (Tcgas score).Results: Post LVRS, dyspnea on exertion and pulmonary function tests were improved. Pre LVRS, inhomogeneous distribution, hot spots and defects were observed in all patients. Post LVRS, improvement in distribution was obtained not only in the surgical field and other fields, but also in the contralateral lung of unilaterally operated patients. In 5 patients some fields showed deterioration. The Tcgas score correlated with improvements in FEV1.0, FEV1.0% and %FEV1.0.Conclusion: Tcgas SPECT is useful for evaluating changes in regional pulmonary function post LVRS. [ABSTRACT FROM AUTHOR]

Cell states are regulated by the response of signaling pathways to receptor ligand-binding and intercellular interactions. High-resolution imaging has been attempted to explore the dynamics of these processes and, recently, multiplexed imaging has profiled cell states by achieving a comprehensive acquisition of spatial protein information from cells. However, the specificity of antibodies is still compromised when visualizing activated signals. Here, we develop Precise Emission Canceling Antibodies (PECAbs) that have cleavable fluorescent labeling. PECAbs enable high-specificity sequential imaging using hundreds of antibodies, allowing for reconstruction of the spatiotemporal dynamics of signaling pathways. Additionally, combining this approach with seq-smFISH can effectively classify cells and identify their signal activation states in human tissue. Overall, the PECAb system can serve as a comprehensive platform for analyzing complex cell processes., (© 2024. The Author(s).)

DNA methyltransferase 3A (DNMT3A) and its catalytically inactive cofactor DNA methyltransferase 3-Like (DNMT3L) proteins form functional heterotetramers to deposit DNA methylation in mammalian germ cells. While both proteins have an ATRX-DNMT3-DNMT3L (ADD) domain that recognizes histone H3 tail unmethylated at lysine-4 (H3K4me0), the combined and differential roles of the domains in the two proteins have not been fully defined in vivo. Here we investigate DNA methylation landscapes in female and male germ cells derived from mice with loss-of-function amino acid substitutions in the ADD domains of DNMT3A and/or DNMT3L. Mutations in either the DNMT3A-ADD or the DNMT3L-ADD domain moderately decrease global CG methylation levels, but to different degrees, in both germ cells. Furthermore, when the ADD domains of both DNMT3A and DNMT3L lose their functions, the CG methylation levels are much more reduced, especially in oocytes, comparable to the impact of the Dnmt3a/3L knockout. In contrast, aberrant accumulation of non-CG methylation occurs at thousands of genomic regions in the double mutant oocytes and spermatozoa. These results highlight the critical role of the ADD-H3K4me0 binding in proper CG and non-CG methylation in germ cells and the various impacts of the ADD domains of the two proteins., (© 2024. The Author(s).)

Establishment of a proper DNA methylation landscape in mammalian oocytes is important for maternal imprinting and embryonic development. De novo DNA methylation in oocytes is mediated by the DNA methyltransferase DNMT3A, which has an ATRX-DNMT3-DNMT3L (ADD) domain that interacts with histone H3 tail unmethylated at lysine-4 (H3K4me0). The domain normally blocks the methyltransferase domain via intramolecular interaction and binding to histone H3K4me0 releases the autoinhibition. However, H3K4me0 is widespread in chromatin and the role of the ADD-histone interaction has not been studied in vivo. We herein show that amino-acid substitutions in the ADD domain of mouse DNMT3A cause dwarfism. Oocytes derived from homozygous females show mosaic loss of CG methylation and almost complete loss of non-CG methylation. Embryos derived from such oocytes die in mid-to-late gestation, with stochastic and often all-or-none-type CG-methylation loss at imprinting control regions and misexpression of the linked genes. The stochastic loss is a two-step process, with loss occurring in cleavage-stage embryos and regaining occurring after implantation. These results highlight an important role for the ADD domain in efficient, and likely processive, de novo CG methylation and pose a model for stochastic inheritance of epigenetic perturbations in germ cells to the next generation., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Uehara et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Affordable and accessible behaviour-based interventions that do not overwhelm or demoralise overweight/obese individuals are needed. Combining clothing with behaviour change techniques might be an option. This is because clothing is a social norm, and clothing and motivation for weight loss are associated with the common desire to look better. Therefore, we conducted a single-blind randomised controlled trial to examine the effect of an intervention that combined behaviour change techniques, including simplified goal setting and self-monitoring, with a body compression corrective garment (BCCG), which exerts continuous but minimal tactile pressure on the hips and abdomen. We enrolled healthy community-dwelling adults with a body mass index ≥ 25 kg/m 2 and assigned 35 and 34 participants to the intervention and control groups, respectively. The reduction in body weight was 1.3 kg more in the intervention group than in the control group after the 12-week intervention period ( p < 0.05, repeated-measures mixed model). In addition, eating behaviour and body appreciation showed significant improvement in the intervention group compared with the control group. Our newly developed intervention improved eating behaviour and body appreciation and reduced the body weight of overweight/obese participants. Wearing a BCCG seems to facilitate behavioural changes and lead to weight loss.

Transcription is a dynamic process. To detect the dynamic relationship among protein clusters of RNA polymerase II and coactivators, gene loci, and transcriptional activity, we insert an MS2 repeat, a TetO repeat, and inteins with a selection marker just downstream of the transcription start site. By optimizing the individual elements, we develop the Spliced TetO REpeAt, MS2 repeat, and INtein sandwiched reporter Gene tag (STREAMING-tag) system. Clusters of RNA polymerase II and BRD4 are observed proximal to the transcription start site of Nanog when the gene is transcribed in mouse embryonic stem cells. In contrast, clusters of MED19 and MED22 tend to be located near the transcription start site, even without transcription activity. Thus, the STREAMING-tag system reveals the spatiotemporal relationships between transcriptional activity and protein clusters near the gene. This powerful tool is useful for quantitatively understanding transcriptional regulation in living cells., (© 2022. The Author(s).)

Balanced chromosomal rearrangements with a breakpoint located upstream of the sex determining region Y-box 9 (SOX9) gene on chromosome 17q24.3 are associated with skeletal abnormalities, campomelic dysplasia (CMPD), or acampomelic campomelic dysplasia (ACMPD). We report on a female patient with a reciprocal translocation of t (11; 17) (p15.4; q24.3), who was diagnosed with acampomelic campomelic dysplasia. The 34-year-old Japanese patient presented with distinct skeletal abnormalities, profound intellectual disability, and female phenotype despite the presence of Y chromosome and the sex determining region Y (SRY) gene. Her menarche started at 33 years and 4 months after hormone therapy of estrogen therapy followed by estrogen progesterone therapy. By conducting whole genome sequencing followed by Sanger sequencing validation, we determined the precise breakpoint positions of the reciprocal translocation, one of which was located 203 kb upstream of the SOX9 gene. Considering the phenotypic variations previously reported among the CMPD/ACMPD patients with a chromosomal translocation in the vicinity of SOX9, the identified translocation was concluded to be responsible for all major phenotypes observed in the patient., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

DNA methylation at CG sites is important for gene regulation and embryonic development. In mouse oocytes, de novo CG methylation requires preceding transcription-coupled histone mark H3K36me3 and is mediated by a DNA methyltransferase DNMT3A. DNMT3A has a PWWP domain, which recognizes H3K36me2/3, and heterozygous mutations in this domain, including D329A substitution, cause aberrant CG hypermethylation of regions marked by H3K27me3 in somatic cells, leading to a dwarfism phenotype. We herein demonstrate that D329A homozygous mice show greater CG hypermethylation and severer dwarfism. In oocytes, D329A substitution did not affect CG methylation of H3K36me2/3-marked regions, including maternally methylated imprinting control regions; rather, it caused aberrant hypermethylation in regions lacking H3K36me2/3, including H3K27me3-marked regions. Thus, the role of the PWWP domain in CG methylation seems similar in somatic cells and oocytes; however, there were cell-type-specific differences in affected regions. The major satellite repeat was also hypermethylated in mutant oocytes. Contrary to the CA hypomethylation in somatic cells, the mutation caused hypermethylation at CH sites, including CA sites. Surprisingly, oocytes expressing only the mutated protein could support embryonic and postnatal development. Our study reveals that the DNMT3A PWWP domain is important for suppressing aberrant CG hypermethylation in both somatic cells and oocytes but that D329A mutation has little impact on the developmental potential of oocytes., Competing Interests: The authors have declared that no competing interests exist.

We have previously reported a novel homozygous 4-bp deletion in DDHD1 as the responsible variant for spastic paraplegia type 28 (SPG28; OMIM#609340). The variant causes a frameshift, resulting in a functionally null allele in the patient. DDHD1 encodes phospholipase A1 (PLA1) catalyzing phosphatidylinositol to lysophosphatidylinositol (LPI). To clarify the pathogenic mechanism of SPG28, we established Ddhd1 knockout mice (Ddhd1[-/-]) carrying a 5-bp deletion in Ddhd1, resulting in a premature termination of translation at a position similar to that of the patient. We observed a significant decrease in foot-base angle (FBA) in aged Ddhd1(-/-) (24 months of age) and a significant decrease in LPI 20:4 (sn-2) in Ddhd1(-/-) cerebra (26 months of age). These changes in FBA were not observed in 14 months of age. We also observed significant changes of expression levels of 22 genes in the Ddhd1(-/-) cerebra (26 months of age). Gene Ontology (GO) terms relating to the nervous system and cell-cell communications were significantly enriched. We conclude that the reduced signaling of LPI 20:4 (sn-2) by PLA1 dysfunction is responsible for the locomotive abnormality in SPG28, further suggesting that the reduction of downstream signaling such as GPR55 which is agonized by LPI is involved in the pathogenesis of SPG28., (© 2021 The Author(s).)

Introduction: In Japan, the rate of recidivism among thieves is high, some of which may be caused by kleptomania. The purpose of this study was to translate the Kleptomania Symptom Assessment Scale (K-SAS) into Japanese and validate its psychometric properties in a Japanese sample. A second purpose of the study was to evaluate the validity of K-SAS to discriminate between individuals with kleptomania and shoplifters not affected by the disorder., Methods: The original K-SAS was translated by researchers. The back-translation of the scale into English was conducted by a professional translator who was fluent in both languages. The items on the Japanese version of K-SAS were deemed appropriate for the Japanese context after being reviewed by a forensic psychiatry specialist. The sample included 22 kleptomania patients, 26 shoplifters, and 47 healthy adults. We tested the scale properties and validity to discriminate between the three groups., Results: The Japanese version of the K-SAS showed adequate reliability and validity. Individuals affected by kleptomania had significantly higher scores than shoplifters and healthy adults. Furthermore, the K-SAS score of kleptomania was not correlated with typical antisocial tendencies. Moreover, the K-SAS score for kleptomania was not correlated with psychometric scales related to obsessive-compulsive disorder and borderline personality disorder., Conclusions: The Japanese version of the K-SAS is a useful assessment tool for distinguishing between individuals with kleptomania and shoplifters not affected by the disorder in Japan., (Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved.)