14 research outputs found

    La Grotta dei Moscerini in localitĂ  Don Simone (Canino, VT): prima campagna di scavo

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    The Moscerini cave is located in northern Latium along the Fiora river, in an area known as Don Simone locality. The site has been identified during an archaeological survey carried out in 2019. The preliminary results of the first stratigraphic investigation conducted at the entrance of the cave in 2021 are presented in the paper. The upper part of the deposit can be dated back to the modern period, thanks to scarce material culture recovered. A hearth has been uncovered at the top of a concentration of material culture: impasto pottery sherds, pebbles – some of them showing use traces –, fragments of speleothems and some knapped flint tool. At the entrance of the cave the area around the fire place has been organized as walking surface (presence of fine sediments and small artifacts) and the deposit below as drainage arrangement (stones, speleothems fragments, pebbles). The material culture found fits into the repertoire of the Early Rinaldone facies, referring to the Early Copper Age (3700-3300 BC). The deposit, still under excavation, appears different from the typical Rinaldone assemblage of grave goods and more similar to a household (or ritual?) context

    Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

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    : The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species

    Acute Delta Hepatitis in Italy spanning three decades (1991–2019): Evidence for the effectiveness of the hepatitis B vaccination campaign

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    Updated incidence data of acute Delta virus hepatitis (HDV) are lacking worldwide. Our aim was to evaluate incidence of and risk factors for acute HDV in Italy after the introduction of the compulsory vaccination against hepatitis B virus (HBV) in 1991. Data were obtained from the National Surveillance System of acute viral hepatitis (SEIEVA). Independent predictors of HDV were assessed by logistic-regression analysis. The incidence of acute HDV per 1-million population declined from 3.2 cases in 1987 to 0.04 in 2019, parallel to that of acute HBV per 100,000 from 10.0 to 0.39 cases during the same period. The median age of cases increased from 27 years in the decade 1991-1999 to 44 years in the decade 2010-2019 (p < .001). Over the same period, the male/female ratio decreased from 3.8 to 2.1, the proportion of coinfections increased from 55% to 75% (p = .003) and that of HBsAg positive acute hepatitis tested for by IgM anti-HDV linearly decreased from 50.1% to 34.1% (p < .001). People born abroad accounted for 24.6% of cases in 2004-2010 and 32.1% in 2011-2019. In the period 2010-2019, risky sexual behaviour (O.R. 4.2; 95%CI: 1.4-12.8) was the sole independent predictor of acute HDV; conversely intravenous drug use was no longer associated (O.R. 1.25; 95%CI: 0.15-10.22) with this. In conclusion, HBV vaccination was an effective measure to control acute HDV. Intravenous drug use is no longer an efficient mode of HDV spread. Testing for IgM-anti HDV is a grey area requiring alert. Acute HDV in foreigners should be monitored in the years to come

    La necropoli del Bronzo finale di Morano sul Po: nuove analisi e riflessioni

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    Nell'articolo viene analizzata in modo sistematico dal punto cronologico, rituale, sociale, la necropoli dell'etĂ  del bronzo finale (metĂ  XII- metĂ  X secolo a.C.) di Morano sul Po

    Effects of Global Postural Reeducation on gait kinematics in parkinsonian patients: a pilot randomized three-dimensional motion analysis study

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    The Global Postural Reeducation (GPR) method is a physical therapy based on the stretching of antigravity muscle chains with the parallel enhancement of the basal tone of antagonistic muscles addressed to improve static and dynamic stability. Through a three-dimensional motion analysis (3DMA) system, our study aims to investigate whether in Parkinson's disease (PD) patients a GPR program results in a more physiological gait pattern. The kinematic parameters of gait of twenty subjects with clinically diagnosed PD were calculated. The patients were randomly assigned to a study (10 or control (10) group. All subjects underwent neurological and 3DMA assessments at entry time (t 0), at 4 weeks (t 1, end of GPR program), and at 8 and 12 weeks (t 2 and t 3, follow-up evaluation). The study group underwent a four-week GPR program, three times a week, for 40 min individual sessions. Kinematic gait parameters of thigh (T), knee (K) and ankle (A) and UPDRS-III scores were evaluated. At the end of the GPR program, we observed an improvement of the kinematic gait pattern, documented by the increase in KΔc and TΔc values that respectively express the flexion amplitude of knee and thigh. The amelioration was persistent at follow-up assessments, with a parallel enhancement in clinical parameters. GPR intervention shows a long-term efficacy on gait pattern in PD patients. Furthermore, we validated 3DMA as a valuable tool to study the kinematics of gait thus refining the understanding of the effects of specific rehabilitation programs.The Global Postural Reeducation (GPR) method is a physical therapy based on the stretching of antigravity muscle chains with the parallel enhancement of the basal tone of antagonistic muscles addressed to improve static and dynamic stability. Through a three-dimensional motion analysis (3DMA) system, our study aims to investigate whether in Parkinson's disease (PD) patients a GPR program results in a more physiological gait pattern. The kinematic parameters of gait of twenty subjects with clinically diagnosed PD were calculated. The patients were randomly assigned to a study (10 or control (10) group. All subjects underwent neurological and 3DMA assessments at entry time (t 0), at 4 weeks (t 1, end of GPR program), and at 8 and 12 weeks (t 2 and t 3, follow-up evaluation). The study group underwent a four-week GPR program, three times a week, for 40 min individual sessions. Kinematic gait parameters of thigh (T), knee (K) and ankle (A) and UPDRS-III scores were evaluated. At the end of the GPR program, we observed an improvement of the kinematic gait pattern, documented by the increase in KΔc and TΔc values that respectively express the flexion amplitude of knee and thigh. The amelioration was persistent at follow-up assessments, with a parallel enhancement in clinical parameters. GPR intervention shows a long-term efficacy on gait pattern in PD patients. Furthermore, we validated 3DMA as a valuable tool to study the kinematics of gait thus refining the understanding of the effects of specific rehabilitation programs

    Effect of Global Postural Rehabilitation program on spatiotemporal gait parameters of parkinsonian patients: a three-dimensional motion analysis study.

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    The aim of the present study was to evaluate the effects of a Global Postural Rehabilitation (GPR) program on motor symptoms and gait parameters of patients with Parkinson’s disease (PD) by means of three-dimensional motion analysis study. Ten subjects with clinical diagnosis of PD were enrolled (study group). Age-, sexand disease duration-matched PD patients were recruited as a control group (no treatment). Three-dimensional motion analysis was conducted by means of a stereophotogrammetric system. After basal evaluation, the study group underwent a specific rehabilitation program consisting of individual 40 min GPR daily sessions, 3 days a week for 4 consecutive weeks. Neurological status and spatiotemporalgait parameters of the two groups were evaluated at study entry (t0), at 4 weeks (t1, end of rehabilitation protocol) and at 8 and 12 weeks (t2 and t3, follow-up evaluation). At baseline evaluation, the two groups did not differ in clinical features and gait parameters. At the end of rehabilitation protocol (t1) and at follow-up evaluation (t2 and t3), a significant improvement in temporal gait parameters and UPDRS scores was observed in all treated patients as compared to baseline and controls. Our preliminary findings showed that significant improvements in mobility and gait parameters of PD patients can be obtained through GPR treatment, with a parallel improvement in clinical status. Quantitative analysis of gait pattern can be considered a useful tool to assess the efficacy of rehabilitation interventions in patients affected by PD

    Effects of Global Postural Reeducation on gait kinematics in parkinsonian patients: a pilot randomized three-dimensional motion analysis study

    No full text
    The Global Postural Reeducation (GPR) method is a physical therapy based on the stretching of antigravity muscle chains with the parallel enhancement of the basal tone of antagonistic muscles addressed to improve static and dynamic stability. Through a three-dimensional motion analysis (3DMA) system, our study aims to investigate whether in Parkinsonâ\u80\u99s disease (PD) patients a GPR program results in a more physiological gait pattern. The kinematic parameters of gait of twenty subjects with clinically diagnosed PD were calculated. The patients were randomly assigned to a study (10 or control (10) group. All subjects underwent neurological and 3DMA assessments at entry time (t0), at 4 weeks (t1, end of GPR program), and at 8 and 12 weeks (t2and t3, follow-up evaluation). The study group underwent a four-week GPR program, three times a week, for 40 min individual sessions. Kinematic gait parameters of thigh (T), knee (K) and ankle (A) and UPDRS-III scores were evaluated. At the end of the GPR program, we observed an improvement of the kinematic gait pattern, documented by the increase in KÎ\u94c and TÎ\u94c values that respectively express the flexion amplitude of knee and thigh. The amelioration was persistent at follow-up assessments, with a parallel enhancement in clinical parameters. GPR intervention shows a long-term efficacy on gait pattern in PD patients. Furthermore, we validated 3DMA as a valuable tool to study the kinematics of gait thus refining the understanding of the effects of specific rehabilitation programs
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