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Shore Morrison posted an update 3 days, 18 hours ago
Recent studies in adult humans have reported correlations between individual differences in people’s Social Network Index (SNI) and gray matter volume (GMV) across multiple regions of the brain. However, the cortical and subcortical loci identified are inconsistent across studies. These discrepancies might arise because different regions of interest were hypothesized and tested in different studies without controlling for multiple comparisons, and/or from insufficiently large sample sizes to fully protect against statistically unreliable findings. Here we took a data-driven approach in a pre-registered study to comprehensively investigate the relationship between SNI and GMV in every cortical and subcortical region, using three predictive modeling frameworks. We also included psychological predictors such as cognitive and emotional intelligence, personality, and mood. In a sample of healthy adults (n = 92), neither multivariate frameworks (e.g., ridge regression with cross-validation) nor univariate frameworks (e.g., univariate linear regression with cross-validation) showed a significant association between SNI and any GMV or psychological feature after multiple comparison corrections (all R-squared values ≤ .1). These results emphasize the importance of large sample sizes and hypothesis-driven studies to derive statistically reliable conclusions, and suggest that future meta-analyses will be needed to more accurately estimate the true effect sizes in this field. Huntington’s disease (HD) is a monogenetic neurodegenerative disease prototypically characterized by the progressive presentation of motor abnormalities, cognitive deterioration and neuropsychiatric symptoms. Even when the disorder is diagnosed based on the presence of unequivocal motor symptoms, subtle cognitive and behavioral changes emerge decades before the first motor manifestations. Here we present the atypical case of a young premanifest gene-mutation carrier who developed progressive complex autoscopic phenomena (feelings of presence, out of body experience, and heautoscopic hallucinations). To our knowledge, this is the first report of these symptoms in the context of HD. Considering the availability of serial neurologic, neuropsychological and neuroimaging data collected before and after the presentation of these symptoms, this case provides new insights into the brain mechanisms leading to autoscopic phenomena and atypical phenotypes that may occur in HD. Extensive neuroimaging research has attempted to identify neural correlates and predictors of decision impulsivity. However, the nature and extent of decision impulsivity-brain association have varied substantially across studies, likely due to small sample sizes, limited image quality, different imaging measurement selections, and non-specific methodologies. The objective of this study was to develop a reliable predictive model of decision impulsivity-brain relationship in a large sample by applying connectome-based predictive modeling (CPM), a recently developed machine learning approach, to whole-brain functional connectivity data (“neural fingerprints”). For 809 healthy young participants from the Human Connectome Project, high-quality resting-state functional MRI data were utilized to construct brain functional connectome and delay discounting test was used to assess decision impulsivity. Then, CPM with leave-one-out cross-validation was conducted to predict individual decision impulsivity from whole-brain functional connectivity. We found that CPM successfully and reliably predicted the delay discounting scores in novel individuals. Moreover, different feature selection thresholds, parcellation strategies and cross-validation approaches did not significantly influence the prediction results. At the neural level, we observed that the decision impulsivity-associated functional networks included brain regions within default-mode, subcortical, somato-motor, dorsal attention, and visual systems, suggesting that decision impulsivity emerges from highly integrated connections involving multiple intrinsic networks. click here Our findings not only may expand existing knowledge regarding the neural mechanism of decision impulsivity, but also may present a workable route towards translation of brain imaging findings into real-world economic decision-making. Caspase-associated recruitment domain-containing protein 9 (CARD9) deficiency is an autosomal-recessive primary immunodeficiency characterized by susceptibility to recurrent Candida infections, and its diagnosis and treatment is challenging. The present study aims to investigate the genetic characteristic and treatment strategy of a Chinese pediatric patient with CARD9 deficiency. In the present study, whole-exome sequencing (WES) was performed to screen the causal variants in a Chinese pediatric patient who exhibited an invasive Candida infection in the abdominal cavity and central nervous system. After the disease-causing gene being confirmed, the patient was treated with a combination of G-CSF and antifungal agents. DNA sequencing revealed a homozygous insertion mutation (c.819-820insG) in exon 6 of the CARD9 gene, which led to downstream amino acids conversion on codon 274 (p.D274fsX60). Th17 cell populations and cytokine levels showed decreased levels. The treatment regimen successfully resolved the patient’s symptoms, and he remained symptom-free after more than 1 year of follow-up. This study described an invasive Candida infection in a pediatric patient and WES identified an insertion variant of the CARD9 gene. A combination of G-CSF and antifungal agents was highly effective in treating the invasive fungal infection accompanied by CARD9-induced immunodeficiency. BACKGROUND There is limited information on the oncological outcomes of immediate autologous breast reconstruction in the Asian population. This study aimed to evaluate the oncological outcomes of immediate one-stage autologous breast reconstruction using a free perforator flap for breast cancer patients at a single institution in Japan. METHODS We retrospectively reviewed 239 patients who underwent immediate one-stage autologous breast reconstruction using a free perforator flap after skin- or nipple-sparing mastectomy. The whole breast was pathologically analyzed in 5-mm sections. Clinical and pathological data were collected from medical records. RESULTS For tumor stage among the 239 patients, 101 (42.3%) had stage 0, 127 (53.1%) had stage I and II, and 11 (4.6%) had stage III. Twenty-three patients (9.6%) had margin involvement in the surgical specimen. Adjuvant chemotherapy was performed in 75 patients (30%), and endocrine therapy was administered in 153 patients (64%). Radiation therapy was performed in 15 patients (6.