Altered functional organization within the insular cortex in adult males with high-functioning autism spectrum disorder: evidence from connectivity-based parcellation

Determination of the optimal number of clusters based on VI and MI in intracalcarine cortex. The intracalcarine cortex was selected as a control region. The VI and MI values are shown for every clustering solution for k values ranging from 2 to 10. Arrows indicate either local minima of VI or local maxima of MI. Dashed lines denote the optimal number of solutions as determined using both VI and MI. The error bars denote standard errors of the mean for 100 repetitions of the split-half procedure (see the “Estimation of the optimal number of clusters” section). “n.s.” indicates no statistically significant difference between points. (PDF 334 kb

The right temporoparietal junction during a cooperation dilemma: An rTMS study

Cooperation enhances interpersonal communication and nurtures society. However, efforts to socially cooperate may often evoke conflict. Individuals may selfishly pursue a greater reward or success by exploiting the efforts of other individuals or taking unnecessary risk to oneself. Such a cooperation dilemma is highly prevalent in real life; thus, it has been studied in various disciplines. Although published functional magnetic resonance imaging studies have shown the involvement of the right temporoparietal junction (TPJ) in resolving a dilemma through cooperation, a causal relationship between the two has rarely been explored. Hence, we investigated this issue by combining repetitive transcranial magnetic stimulation with a priority game task (modified snowdrift game). In this game task, participants and opponent players jointly faced a problem whereby their collaboration was anticipated to defuse the situation. This conflicted with a choice in the participant's self-interest that was more rewarding but risky. We further included conditions with and without explicit social cues using figures describing elderly/pregnant passengers in the game opponent's car, and measured participants' prosocial traits to examine any cue-induced effect as well as the personality-cooperation relationship, respectively. The cooperation ratio was not statistically different in both the no-cue and with-cue conditions between the sham stimulation and inhibitory continuous theta burst stimulation (cTBS). However, after cTBS, in the no-cue condition, the strength of the association between cooperation ratio and empathy traits decreased significantly. These results add to our knowledge about the right TPJ's role in social cognition, which may be extraordinarily complex. This topic is deserving of further examination

White matter alterations in Attention-Deficit/Hyperactivity Disorder (ADHD):a systematic review of 129 diffusion imaging studies with meta-analysis

Aberrant anatomical brain connections in attention-deficit/hyperactivity disorder (ADHD) are reported inconsistently across diffusion weighted imaging (DWI) studies. Based on a pre-registered protocol (Prospero: CRD42021259192), we searched PubMed, Ovid, and Web of Knowledge until 26/03/2022 to conduct a systematic review of DWI studies. We performed a quality assessment based on imaging acquisition, preprocessing, and analysis. Using signed differential mapping, we meta-analyzed a subset of the retrieved studies amenable to quantitative evidence synthesis, i.e., tract-based spatial statistics (TBSS) studies, in individuals of any age and, separately, in children, adults, and high-quality datasets. Finally, we conducted meta-regressions to test the effect of age, sex, and medication-naïvety. We included 129 studies (6739 ADHD participants and 6476 controls), of which 25 TBSS studies provided peak coordinates for case-control differences in fractional anisotropy (FA)(32 datasets) and 18 in mean diffusivity (MD)(23 datasets). The systematic review highlighted white matter alterations (especially reduced FA) in projection, commissural and association pathways of individuals with ADHD, which were associated with symptom severity and cognitive deficits. The meta-analysis showed a consistent reduced FA in the splenium and body of the corpus callosum, extending to the cingulum. Lower FA was related to older age, and case-control differences did not survive in the pediatric meta-analysis. About 68% of studies were of low quality, mainly due to acquisitions with non-isotropic voxels or lack of motion correction; and the sensitivity analysis in high-quality datasets yielded no significant results. Findings suggest prominent alterations in posterior interhemispheric connections subserving cognitive and motor functions affected in ADHD, although these might be influenced by non-optimal acquisition parameters/preprocessing. Absence of findings in children may be related to the late development of callosal fibers, which may enhance case-control differences in adulthood. Clinicodemographic and methodological differences were major barriers to consistency and comparability among studies, and should be addressed in future investigations. © 2023, The Author(s).11Nsciescopu

Evaluating Clinical Genome Sequence Analysis by Watson for Genomics

Background: Oncologists increasingly rely on clinical genome sequencing to pursue effective, molecularly targeted therapies. This study assesses the validity and utility of the artificial intelligence Watson for Genomics (WfG) for analyzing clinical sequencing results.Methods: This study identified patients with solid tumors who participated in in-house genome sequencing projects at a single cancer specialty hospital between April 2013 and October 2016. Targeted genome sequencing results of these patients' tumors, previously analyzed by multidisciplinary specialists at the hospital, were reanalyzed by WfG. This study measures the concordance between the two evaluations.Results: In 198 patients, in-house genome sequencing detected 785 gene mutations, 40 amplifications, and 22 fusions after eliminating single nucleotide polymorphisms. Breast cancer (n = 40) was the most frequent diagnosis in this analysis, followed by gastric cancer (n = 31), and lung cancer (n = 30). Frequently detected single nucleotide variants were found in TP53 (n = 107), BRCA2 (n = 24), and NOTCH2 (n = 23). MYC (n = 10) was the most frequently detected gene amplification, followed by ERBB2 (n = 9) and CCND1 (n = 6). Concordant pathogenic classifications (i.e., pathogenic, benign, or variant of unknown significance) between in-house specialists and WfG included 705 mutations (89.8%; 95% CI, 87.5%−91.8%), 39 amplifications (97.5%; 95% CI, 86.8–99.9%), and 17 fusions (77.3%; 95% CI, 54.6–92.2%). After about 12 months, reanalysis using a more recent version of WfG demonstrated a better concordance rate of 94.5% (95% CI, 92.7–96.0%) for gene mutations. Across the 249 gene alterations determined to be pathogenic by both methods, including mutations, amplifications, and fusions, WfG covered 84.6% (88 of 104) of all targeted therapies that experts proposed and offered an additional 225 therapeutic options.Conclusions: WfG was able to scour large volumes of data from scientific studies and databases to analyze in-house clinical genome sequencing results and demonstrated the potential for application to clinical practice; however, we must train WfG in clinical trial settings

独立成分分析とその拡張に基づいたブラインド信号分離

九州工業大学博士学位論文 学位記番号:生工博甲第182号 学位授与年月日:平成24年3月23日1 INTRODUCTION||2 PRELIMINARIES||3 CONVOLUTIVE BSS ALGORITHM BASED ON NONLINEAR COR-RELATION||4 STABILITY ON INDEPENDENT VECTOR ANALYSIS||5 VARIANTS OF INDEPENDENT VECTOR ANALYSIS ALGORITHMS||6 SIMULATIONS||7 CONCLUSION

Meta-analysis of structural integrity of white matter and functional connectivity in developmental stuttering

Developmental stuttering is a speech disfluency disorder characterized by repetitions, prolongations, and blocks of speech. While a number of neuroimaging studies have identified alterations in localized brain activation during speaking in persons with stuttering (PWS), it is unclear whether neuroimaging evidence converges on alterations in structural integrity of white matter and functional connectivity (FC) among multiple regions involved in supporting fluent speech. In the present study, we conducted coordinate-based meta-analyses according to the PRISMA guidelines for available publications that studied fractional anisotropy (FA) using tract-based spatial statistics (TBSS) for structural integrity and the seed-based voxel-wise FC analyses. The search retrieved 11 publications for the TBSS FA studies, 29 seed-based FC datasets from 6 publications for the resting-state, and 29 datasets from 6 publications for the task-based studies. The meta-analysis of TBSS FA revealed that PWS exhibited FA reductions in the middle and posterior segments of the left superior longitudinal fasciculus. Furthermore, the analysis of resting-state FC demonstrated that PWS had reduced FC in the right supplementary motor area and inferior parietal cortex, whereas an increase in FC was observed in the left cerebellum crus I. Conversely, we observed increased FC for task-based FC in regions implicated in speech production or sequential movements, including the anterior cingulate cortex, posterior insula, and bilateral cerebellum crus I in PWS. Functional network characterization of the altered FCs revealed that the sets of reduced resting-state and increased task-based FCs were largely distinct, but the somatomotor and striatum/thalamus networks were foci of alterations in both conditions. These observations indicate that developmental stuttering is characterized by structural and functional alterations in multiple brain networks that support speech fluency or sequential motor processes, including cortico-cortical and subcortical connections