The increased use of the MATRICS Consensus Cognitive Battery (MCCB) to investigate cognitive dysfunctions in schizophrenia fostered interest in its sensitivity in the context of family studies. As ...various measures of the same cognitive domains may have different power to distinguish between unaffected relatives of patients and controls, the relative sensitivity of MCCB tests for relative-control differences has to be established. We compared MCCB scores of 852 outpatients with schizophrenia (SCZ) with those of 342 unaffected relatives (REL) and a normative Italian sample of 774 healthy subjects (HCS). We examined familial aggregation of cognitive impairment by investigating within-family prediction of MCCB scores based on probands' scores.
Multivariate analysis of variance was used to analyze group differences in adjusted MCCB scores. Weighted least-squares analysis was used to investigate whether probands' MCCB scores predicted REL neurocognitive performance.
SCZ were significantly impaired on all MCCB domains. REL had intermediate scores between SCZ and HCS, showing a similar pattern of impairment, except for social cognition. Proband's scores significantly predicted REL MCCB scores on all domains except for visual learning.
In a large sample of stable patients with schizophrenia, living in the community, and in their unaffected relatives, MCCB demonstrated sensitivity to cognitive deficits in both groups. Our findings of significant within-family prediction of MCCB scores might reflect disease-related genetic or environmental factors.
The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, ...with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%-2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome.
Abstract
Cosmogenic radio-nuclei are an important source of background for low-energy neutrino experiments. In Borexino, cosmogenic
$$^{11}$$
11
C decays outnumber solar
pep
and CNO neutrino events ...by about ten to one. In order to extract the flux of these two neutrino species, a highly efficient identification of this background is mandatory. We present here the details of the most consolidated strategy, used throughout Borexino solar neutrino measurements. It hinges upon finding the space-time correlations between
$$^{11}$$
11
C decays, the preceding parent muons and the accompanying neutrons. This article describes the working principles and evaluates the performance of this Three-Fold Coincidence (TFC) technique in its two current implementations: a hard-cut and a likelihood-based approach. Both show stable performances throughout Borexino Phases II (2012–2016) and III (2016–2020) data sets, with a
$$^{11}$$
11
C tagging efficiency of
$$\sim 90$$
∼
90
% and
$$\sim $$
∼
63–66 % of the exposure surviving the tagging. We present also a novel technique that targets specifically
$$^{11}$$
11
C produced in high-multiplicity during major spallation events. Such
$$^{11}$$
11
C appear as a
burst
of events, whose space-time correlation can be exploited. Burst identification can be combined with the TFC to obtain about the same tagging efficiency of
$$\sim 90\%$$
∼
90
%
but with a higher fraction of the exposure surviving, in the range of
$$\sim $$
∼
66–68 %.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Although predictors of acute intraprocedural stent thrombosis (IPST) in the drug-eluting stent era have been proposed, external validation is lacking. We thus analyzed the occurrence of IPST in the ...RECIPE study and found that, among 1,320 patients who underwent drug-eluting stent implantation, IPST occurred in 6 (0.5%), with in-hospital major adverse events in 4 (67%). IPST was predicted by number and total length of implanted stents, baseline minimal lumen diameter, and, in a pooled analysis that incorporated values from the present study and a previous study, use of elective glycoprotein IIb/IIIa inhibitors. Such results may provide useful information to guide prevention of this complication.
Epilepsy is one of the most common neurological disorders, characterized by the occurrence of repeated seizures. Given that epilepsy is considered a network disorder, tools derived from network ...neuroscience may confer the valuable ability to quantify the properties of epileptic brain networks. In this study, we use well-established brain network metrics (i.e., mean strength, variance of strength, eigenvector centrality, betweenness centrality) to characterize the temporal evolution of epileptic functional networks over several days prior to seizure occurrence. We infer the networks using long-term electroencephalographic recordings from 12 people with epilepsy. We found that brain network metrics are variable across days and show a circadian periodicity. In addition, we found that in 9 out of 12 patients the distribution of the variance of strength in the day (or even two last days) prior to seizure occurrence is significantly different compared to the corresponding distributions on all previous days. Our results suggest that brain network metrics computed fromelectroencephalographic recordings could potentially be used to characterize brain network changes that occur prior to seizures, and ultimately contribute to seizure warning systems.
We present a multi-sensor archive collecting spatial and temporal information about volcanic SO2 clouds generated by the 11 largest eruptions of this century. The detection and monitoring of volcanic ...clouds are an important topic for aviation management, climate issues and weather forecasts. Several studies focusing on single eruptive events exist, but no archive available at the moment combines quantitative data from as many instruments. We archived and collocated the SO2 vertical column density estimations from three different satellite instruments (AIRS, IASI and GOME-2), atmospheric parameters as vertical profiles from the Global Navigation Satellite Systems (GNSS) Radio Occultations (RO), and the cloud-top height and aerosol type from the Cloud-Aerosol Lidar with Orthogonal Polarization (CALIOP). Additionally, we provide information about the cloud-top height from three different algorithms and the atmospheric anomaly due to the presence of the cloud. The dataset is gathering 206 d of SO2 data, collocated with 44 180 backscatter profiles and 64 764 radio occultation profiles. The modular structure of the archive allows an easy collocation of the datasets according to the users' needs, and the cross-comparison of the datasets shows different consistency of the parameters estimated with different sensors and algorithms, according to the sensitivity and resolution of the instruments. The data described here are published with a DOI at 10.5880/fidgeo.2020.016 (Tournigand et al., 2020a).
Abstract Aim To investigate the outcome and pattern of survivals of rectal cancer patients presenting a complete or nearly complete tumor response after neo-adjuvant treatment. Methods Young surgeons ...<40 years old affiliated to the Italian Society of Surgical Oncology (YSICO) from 13 referral centers for colorectal cancer treatment, were invited to participate a retrospective study. Records from patients treated from 2005 to 2015 with a pathological diagnosis of ypT0/ypTis were retrieved and pooled in a common data-base for statistical purposes. All clinical and pathological variables were reviewed. Univariate and multivariate analyses were conducted with the end-point of survivals. Results Two hundreds and sixty-one patients were analyzed including 237 ypT0 and 24 ypTis. Nodal positive patients were 8.7%. More than sixty-six percent of the patients did not perform adjuvant chemotherapy, with a statistical difference comparing N0 versus N+ patients (66.8% vs 40.9%, p 0.02). Mean follow-up was of 47.6 months. Twenty-two relapses were observed, 91.6% at a distant site. The mean time to recurrence was of 35.3 months. On univariate analysis, the use of adjuvant chemotherapy correlated with better OS exclusively in ypT0N + patients and not in ypT0N0. Univariate and multivariate analyses documented nodal positivity as the only prognostic factor correlated with a worse OS. Conclusion Recurrences were mostly diagnosed at a distant site and within the third year of follow-up. Nodal positivity was the only variable independently correlated with a worse OS. Univariate analysis documented a benefit for the use of adjuvant chemotherapy treatment exclusively in ypT0N + rectal cancers.
Abstract Aims No consensus exists on the level and number of lymph nodes to be dissected and examined for accurate staging of patients with resectable gastric cancer. The aim of this study was to ...examine the prognostic value and staging accuracy of the metastatic lymph nodes ratio (NR). Methods The postoperative survival of 247 patients with gastric cancer who underwent gastrectomy was analyzed. Lymph nodes status was assigned according to three different classifications: 6th UICC/AJCC TNM; JGCA; NR (NR0: 0%; NR1: ≤20%; NR2: >20%). Staging accuracy of the three classifications was compared according to patients survival. Results A significant difference in survival was observed in patients with NR1 versus NR2. At multivariate analysis only NR along with pT and grading were found to be independent prognostic factors. Stage migration was present in 84 cases (51%) with JGCA classification, in 30 (19%) with 6th UICC/AJCC TNM classification and in only 18 cases (11%) when NR was applied. Conclusions Our data showed that NR is a simply reproducible and highly reliable staging system with a strong ability to predict patients' outcome. Compared to other nodal staging classifications, NR is less influenced from the number of the lymph nodes dissected and examined, reducing the stage migration phenomenon.
A non-significant trend was also present in remote areas, 2.7% (0.8-4.1) v 0.9% (0.4-3.0), p = 0.23) (fig 1D). ...bax expression at the peri-infarct site was significantly associated with macroscopic ...signs of unfavourable LV remodelling such as thickness (R = -0.68, p = 0.008), and diameter to thickness ratio (R = +0.82, p < 0.001) (fig 1E). ...myocardial apoptosis in peri-infarct areas is higher in males dying late after AMI than in females, and this difference is associated with increased myocardial bax expression.
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