Genetic variation of goat Y chromosome in the Sardinian population

Sardinian goat population is commonly considered a crossbred of autochthonous animals with improved Mediterranean breeds, mainly the Maltese. It has been demonstrated by using autosomal microsatellites that the Sardinian goats can be divided into three subpopulations: Sardinian, crossbred with Maltese, and Maltese. The aim of this study was to evaluate sequence variation at Y chromosome in Sardinian bucks and to integrate autosomal microsatellites data. Blood from 190 bucks from 68 farms spread in the main Sardinian goat farming areas was sampled. Three ECONOGENE project primer pairs plus an additional one corresponding to a total of 7 SNPs were used. For all common SNPs, the most frequent allele corresponded to the ECONOGENE one. The additional analysed SNP showed allelic frequencies similar to the other markers. The comparison with haplotypes based on the 6 common SNPs showed that the Sardinian most frequent haplotype corresponded to the predominant one in Central Europe. Results of this study showed that the Sardinian goat population has 8 haplotypes resulting in a large diversity of paternal lineages. The next step will be linking autosomal information to Y chromosome data. In fact, up to date, it seems unfeasible to detect recent upgrading breeds by using Y chromosome variation only

Clinical assessment of gait and functional mobility in Italian healthy and cognitively impaired older persons using wearable inertial sensors

Aim The main purpose of the present study was to verify the feasibility of wearable inertial sensors (IMUs) in a clinical setting to screen gait and functional mobility in Italian older persons. In particular, we intended to verify the capability of IMUs to discriminate individuals with and without cognitive impairments and assess the existence of significant correlations between mobility parameters extracted by processing trunk accelerations and cognitive status. Methods This is a cross-sectional study performed on 213 adults aged over 65 years (mean age 77.0 ± 5.4; 62% female) who underwent cognitive assessment (through Addenbrooke’s Cognitive Examination Revised, ACE-R) instrumental gait analysis and the Timed Up and Go (TUG) test carried out using a wearable IMU located in the lower back. Results Individualswithcognitiveimpairmentsexhibitapeculiargaitpattern,characterizedbysignificantreductionofspeed (− 34% vs. healthy individuals), stride length (− 28%), cadence (− 9%), and increase in double support duration (+ 11%). Slight, but significant changes in stance and swing phase duration were also detected. Poorer performances in presence of cognitive impairment were observed in terms of functional mobility as overall and sub-phase TUG times resulted significantly higher with respect to healthy individuals (overall time, + 38%, sub-phases times ranging from + 22 to + 34%), although with some difference associated with age. The severity of mobility alterations was found moderately to strongly correlated with the ACE-R score (Spearman’s rho = 0.58 vs. gait speed, 0.54 vs. stride length, 0.66 vs. overall TUG time). Conclusion The findings obtained in the present study suggest that wearable IMUs appear to be an effective solution for the clinical assessment of mobility parameters of older persons screened for cognitive impairments within a clinical setting. They may represent a useful tool for the clinician in verifying the effectiveness of interventions to alleviate the impact of mobility limitations on daily life in cognitively impaired individuals

Functional mobility in older women with and without motoric cognitive risk syndrome: a quantitative assessment using wearable inertial sensors

Background. The Motoric Cognitive Risk (MCR) syndrome is defined in non-demented older adults by cognitive complaints and slow gait. Individuals with MCR are at higher risk of dementia and other poor clinical outcomes, such as falls. However, no data are available as regards functional mobility alterations associated with MCR. The main purpose of the present study is to quantitatively investigate such an aspect using the instrumented Timed-Up-and-Go (iTUG) test carried out using a wearable inertial measurement unit (IMU). Methods. Fifty-one women aged over 65 years underwent a geriatric and neuropsychologic assessment (which included the Mini Mental State Examination, MMSE and Addenbrooke’s Cognitive Examination Revised, ACE-R), instrumented gait analysis and iTUG performed using an IMU located on the lower back. Based on subjective cognitive complaints and slow gait, they were assigned either to the MCR (n = 24) or non-MCR (n = 27) group. IMU data allowed calculation of overall and sub-phases iTUG times. Results. Women with MCR were characterized by a significantly higher body mass and body mass index, lower normalized handgrip strength, and similar values of MMSE compared to non-MCRs. A trend was observed in terms of lower overall and sub-domain ACE-R score. They also performed iTUG at a significantly slower speed (22.4 s vs 14.1 of the non-MCR group, p < 0.001) and exhibited increased sub-phase times (29 to 31% higher with respect to non-MCRs). Conclusions. The findings of the present study suggest that the MCR syndrome impairs functional mobility, probably due reduced muscular strength and coordination, fear of falling and increased instability. The instrumental evaluation of functional mobility appears useful in the management of women with MCR, particularly in monitoring the progression of the motor impairments, verifying the effectiveness of interventions targeted in alleviating the impact on daily life of mobility limitations associated with MCR and in defining tailored rehabilitation programs

The Impact of SARS-CoV-2 (COVID-19) and its Lockdown Measures on the Mental and Functional Health of Older Individuals

The effect of the COVID-19 on the physical and mental health of Italian older individuals displaying signs of cognitive deterioration has not been deeply investigated. This longi- tudinal study examined the impact of COVID-19 lockdown measures on the psychologi- cal well-being and motor efficiency of a sample of Italian community-dwellers with and without cognitive decline. Forty-seven participants underwent instrumental gait analysis performed in ecological setting using wearable sensors, and completed a battery of tasks assessing cognitive functioning and psychological well-being, before and after the full lockdown due to the COVID-19 spreading. A series of Multivariate Analyses of Variance (MANOVAs) documented that the superior gait performance of the cognitively healthy participants exhibited before the COVID-19 spread, vanished when they were tested at the end of the lockdown period. Moreover, before the outbreak of the COVID-19, cognitively healthy participants and those with signs of cognitive decline reported similar levels of psychological well-being, whereas, after the lockdown, the former group reported better coping, emotional competencies, and general well-being than the participants displaying signs of cognitive decline. In conclusion, the full COVID-19 outbreak had a significant impact on the mental and motor functioning of older individuals with and without signs of cognitive deterioration living in Italy

Should be a Third Dose of BNT162b2 mRNA COVID-19-Vaccine Administered in Patients with Myelofibrosis Under Ruxolitinib?

Patients with Myelobrosis (MF) are considered fragile and thus eligible in Italy for COVID-19 BNT162b2 mRNA vaccination. According to the International Prognostic Scoring System (IPSS), patients with intermediate and high MF, may receive clinical benets from ruxolitinib, the rst approved JAK1/JAK2 inhibitor. Given the potent anti-in ammatory properties of ruxolitinib against immunocompetent cells, we previously reported a lower but non-statistically absolute IgG anti-Spike humoral response in vaccinated MF patients treated with ruxolitinib. In the present report we extended the cohort of MF patients

Role of HBcAb Positivity in Increase of HIV-RNA Detectability after Switching to a Two-Drug Regimen Lamivudine-Based (2DR-3TC-Based) Treatment: Months 48 Results of a Multicenter Italian Cohort

: The aim of this study was to evaluate whether the presence of anti-hepatitis B (HBV) c antibodies (HBcAb positivity) could influence the control of HIV viremia in patients living with HIV (PLWH) who switch to two-drug antiretroviral therapy (2DR) containing lamivudine (3TC) (2DR-3TC-based). A retrospective multicentre observational study was conducted on 160 PLWH switching to the 2DR-3TC-based regimen: 51 HBcAb-positive and 109 HBcAb-negative patients. The HBcAb-positive PLWH group demonstrated a significantly lower percentage of subjects with HIV viral suppression with target not detected (TND) at all time points after switching (24th month: 64.7% vs. 87.8%, p < 0.0001; 36th month 62.7% vs. 86.8%, p = 0.011; 48th month 57.2% vs. 86.1%, p = 0.021 of the HBcAb-positive and HBcAb-negative groups, respectively). Logistic regression analysis showed that the presence of HBcAb positivity (OR 7.46 [95% CI 2.35-14.77], p = 0.004) could favour the emergence of HIV viral rebound by nearly 54% during the entire study follow-up after switching to 2DR-3TC

Project Final Report Use and Dissemination of Foreground

This document is the final report on use and dissemination of foreground, part of the CONNECT final report. The document provides the lists of: publications, dissemination activities, and exploitable foregroun

Project Final Report Final Publishable Summary Report

This document is the final publishable summary report, part of the CONNECT final report

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms