L’archeometria della ceramica in Italia: storia degli studi, risultati e prospettive della ricerca

This article reviews Italian research in the field of archaeometrical analyses applied to pre- and proto-historic ceramics from the early studies conducted in the second half of the 1950s until the present. We focus specifically on the rela-tions between palaeoethnology and experimental disciplines, on the methodologies applied over the years and on the resulting interpretative models. In Italy in particular a significant diversification of research approaches in this sector is evident only from the 1990s, much later than in other European countries, alongside an increasing interest in this discipline and an awareness of methodological issues. To this end we briefly summarize the results of some archaeometrical studies with some examples grouped by theme, in order to highlight their enormous potential, without proposing a general survey or discussing their implications for historical reconstructions

An outlook on modern and sustainable approaches to the management of grape pomace by integrating green processes, biotechnologies and advanced biomedical approaches

Grape pomace is the main solid residue of wine industry, mainly composed of seeds, skins and stalks, all containing high amounts of valuable phytochemicals. Considering its high potential, in this review, an outlook on different resources and products, which can be obtained by the recovery of grape pomace is provided. Special attention has been devoted to the analysis of chemical, physical and biotechnological processes to be applied and also to the high value compounds and products, such as supplements, nutraceuticals and cosmeceuticals, that can be manufactured. In particular, in the first part of the review, an update on the composition of grape pomace has been provided along with the analysis of its traditional fate. In the second part, the more modern and green approaches tested to the sustainable management of grape pomace are reported and discussed

Strategic decision-making support for distribution system planning with flexibility alternatives

The ongoing power system transformation requires rethinking the planning and operation practices of the different segments to accommodate the necessary changes and take advantage of the forthcoming opportunities. This paper concerns novel approaches for appraising initiatives involving the use of flexibility from grid-connected users. This paper proposes a Decision Theory based Multi-Criteria Cost-Benefit Analysis (DT-MCA-CBA) methodology for smart grid initiatives that capture the complexity of the distribution system planning activities in which flexibility competes with grid expansion. Based on international guidelines, the proposed DT-MCA-CBA methodology systematically assesses tangible and intangible impacts, considering multiple conflicting criteria. The DT-MCA-CBA methodology relies on a novel approach that combines MCA and Decision Theory to identify the most valuable option in a complex decision-making problem by modelling the stakeholder perspective with the MiniMax regret decision rule. The proposed DT-MCA-CBA methodology is applied to a comparative case study concerning four different approaches for distribution system planning. A web-based software which implements the proposed decision-making framework and the DT-MCA-CBA methodology is developed to provide a novel decision-making support tool for strategical smart distribution system planning

Combining Different Approaches for Grape Pomace Valorization: Polyphenols Extraction and Composting of the Exhausted Biomass

Grape pomace represents 60%, by weight, of the solid side-streams of the wine-making process. The quantities produced, seasonality, and the presence of polyphenols pose economic and environmental issues that require proper management approaches based on the principles of sustainability and circular economy. The present work focuses on the combined application of solid-liquid extraction of polyphenols from ground grape pomace using a hydroethanolic mixture and the composting of the exhausted pomace. The obtained results support the possibility of recovering approximately 76.5 g of extract per kg of dry grape pomace (or 1.8 g of total phenols per kg of dry grape pomace). The composting process was not affected by the extraction process. On the contrary, the composting process was enhanced by the pomace particle size reduction, in terms of final biostability and content of humic acids

Regional long-term analysis of dietary isotopes in Neolithic southeastern Italy: new patterns and research directions

Isotopic analyses of prehistoric diet have only recently reached the threshold of going beyond site-focused reports to provide regional syntheses showing larger trends. In this work we present the first regional analysis for Neolithic southeastern Italy as a whole, including both substantial original data and a review of the available published data. The results show that dietary isotopes can shed new light on a number of traditional and important questions about Neolithic foodways. First, we observe regional variations in the distribution of stable isotope values across the area, suggesting variability in the Neolithic diet. Secondly, we show that, although the plant food calorific intake was primary for these communities, animal products were also important, representing on average 40% of the total calories. Third, we note that marine fish was only minorly consumed, but that this could be an underestimation, and we observe some variability in the regions considered, suggesting differences in local human-environment interactions. People in different regions of southeastern Italy may have consumed different versions of a common Neolithic diet. Regional synthesis also allows us to take stock of gaps and new directions in the field, suggesting an agenda for Neolithic isotopic research for the 2020s

Toward the renal vesicle: Ultrastructural investigation of the cap mesenchyme splitting process in the developing kidney

Background: A complex sequence of morphogenetic events leads to the development of the adult mouse kidney. In the present study, we investigated the morphological events that characterize the early stages of the mesenchymal-to-epithelial transition of cap mesenchymal cells, analyzing in depth the relationship between cap mesenchymal induction and ureteric bud (UB) branching. Design and methods: Normal kidneys of newborn non-obese diabetic (NOD) mice were excised and prepared for light and electron microscopic examination. Results: Nephrogenesis was evident in the outer portion of the renal cortex of all examined samples. This process was mainly due to the interaction of two primordial derivatives, the ureteric bud and the metanephric mesenchyme. Early renal developmental stages were initially characterized by the formation of a continuous layer of condensed mesenchymal cells around the tips of the ureteric buds. These caps of mesenchymal cells affected the epithelial cells of the underlying ureteric bud, possibly inducing their growth and branching. Conclusions: The present study provides morphological evidence of the reciprocal induction between the ureteric bud and the metanephric mesenchyme showing that the ureteric buds convert mesenchyme to epithelium that in turn stimulates the growth and the branching of the ureteric bud

Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy

Objective: To understand the natural disease upper limb progression over 3 years of ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic factors. Methods: Forty boys with DMD (22 non-ambulatory and 18 ambulatory) with deletions in dystrophin that make them eligible for exon 53-skipping therapy were included. Clinical assessments, including Brooke score, motor function measure (MFM), hand grip and key pinch strength, and upper limb distal coordination and endurance (MoviPlate), were performed every 6 months and quantitative MRI of fat fraction (FF) and lean muscle cross sectional area (flexor and extensor muscles) were performed yearly. Results: In the whole population, there were strong nonlinear correlations between outcome measures. In non-ambulatory patients, annual changes over the course of 3 years were detected with high sensitivity standard response mean (|SRM| ≥0.8) for quantitative MRI-based FF, hand grip and key pinch, and MFM. Boys who presented with a FF27% were able to bring a glass to their mouth and retained this ability in the following 3 years. Ambulatory patients with grip strength >35% of predicted value and FF <10% retained ambulation 3 years later. Interpretation: We demonstrate that continuous decline in upper limb strength, function, and MRI measured muscle structure can be reliably measured in ambulatory and non-ambulatory boys with DMD with high SRM and strong correlations between outcomes. Our results suggest that a combination of grip strength and FF can be used to predict important motor milestones

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic diagnosis following screening of known disease genes. METHODS: We performed exome sequencing on two consanguineous probands diagnosed with a congenital myopathy and muscle biopsy showing selective atrophy/hypotrophy or absence of type II myofibres. RESULTS: We identified variants in the gene (MYL1) encoding the skeletal muscle fast-twitch specific myosin essential light chain in both probands. A homozygous essential splice acceptor variant (c.479-2A>G, predicted to result in skipping of exon 5 was identified in Proband 1, and a homozygous missense substitution (c.488T>G, p.(Met163Arg)) was identified in Proband 2. Protein modeling of the p.(Met163Arg) substitution predicted it might impede intermolecular interactions that facilitate binding to the IQ domain of myosin heavy chain, thus likely impacting on the structure and functioning of the myosin motor. MYL1 was markedly reduced in skeletal muscle from both probands, suggesting that the missense substitution likely results in an unstable protein. Knock down of myl1 in zebrafish resulted in abnormal morphology, disrupted muscle structure and impaired touch-evoked escape responses, thus confirming that skeletal muscle fast-twitch specific myosin essential light chain is critical for myofibre development and function. INTERPRETATION: Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with a severe congenital myopathy

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

PURPOSE: Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. We explored respiratory support and associated mortality risk in RECENSUS, particularly among patients ≤5 years old who received respiratory support at birth; this subgroup closely matches patients in the ASPIRO trial of gene therapy for XLMTM. // DESIGN: RECENSUS is an international, retrospective study of patients with XLMTM. Descriptive and time-to-event analyses examined survival on the basis of age, respiratory support, tracheostomy use, predicted mutational effects and life-sustaining care. // RESULTS: Outcomes for 145 patients were evaluated. Among 126 patients with respiratory support at birth, mortality was 47% overall and 59% among those ≤5 years old. Median survival time was shorter for patients ≤5 years old than for those >5 years old (2.2 years (IQR 0.7-5.6) vs 30.2 years (IQR 19.4-30.2)). The most common cause of death was respiratory failure (66.7%). Median survival time was longer for patients with a tracheostomy than for those without (22.8 years (IQR 8.7-30.2) vs 1.8 years (IQR 0.2-not estimable)). The proportion of patients living without a tracheostomy was 50% at age 6 months and 28% at age 2 years. Median survival time was longer with provision of life-sustaining care than without (19.4 years (IQR 3.1-not estimable) vs 0.2 years (IQR 0.1-2.1)). CONCLUSIONS: High mortality, principally due to respiratory failure, among patients with XLMTM ≤5 years old despite respiratory support underscores the need for early diagnosis, informed decision-making and disease-modifying therapies

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. OBJECTIVE: To assess the variability of disease severity in a large cohort of children and adolescents with CMT. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional study was conducted among 520 children and adolescents aged 3 to 20 years at 8 universities and hospitals involved in the Inherited Neuropathies Consortium between August 6, 2009, and July 31, 2014, in Australia, Italy, the United Kingdom, and the United States. Data analysis was conducted from August 1, 2014, to December 1, 2015. MAIN OUTCOMES AND MEASURES: Scores on the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), a well-validated unidimensional clinical outcome measure to assess disease severity. This instrument includes 11 items assessing fine and gross motor function, sensation, and balance to produce a total score ranging from 0 (unaffected) to 44 (severely affected). RESULTS: Among the 520 participants (274 males) aged 3 to 20 years, CMT type 1A (CMT1A) was the most prevalent type (252 [48.5%]), followed by CMT2A (31 [6.0%]), CMT1B (15 [2.9%]), CMT4C (13 [2.5%]), and CMTX1 (10 [1.9%]). Disease severity ranged from 1 to 44 points on the CMTPedS (mean [SD], 21.5 [8.9]), with ankle dorsiflexion strength and functional hand dexterity test being most affected. Participants with CMT1B (mean [SD] CMTPedS score, 24.0 [7.4]), CMT2A (29.7 [7.1]), and CMT4C (29.8 [8.6]) were more severely affected than those with CMT1A (18.9 [7.7]) and CMTX1 (males: 15.3 [7.7]; females: 13.0 [3.6]) (P < .05). Scores on the CMTPedS tended to worsen principally during childhood (ages, 3-10 years) for participants with CMT4C and CMTX1 and predominantly during adolescence for those with CMT1B and CMT2A (ages, 11-20 years), while CMT1A worsened consistently throughout childhood and adolescence. For individual items, participants with CMT4C recorded more affected functional dexterity test scores than did those with all other types of CMT (P < .05). Participants with CMT1A and CMTX1 performed significantly better on the 9-hole peg test and balance test than did those with all other types of CMT (P < .05). Participants with CMT2A had the weakest grip strength (P < .05), while those with CMT2A and CMT4C exhibited the weakest ankle plantarflexion and dorsiflexion strength, as well as the lowest long jump and 6-minute walk test distances (P < .05). Multiple regression modeling identified increasing age (r = 0.356, β = 0.617, P < .001) height (r = 0.251, β = 0.309, P = .002), self-reported foot pain (r = 0.162, β = .114, P = .009), and self-reported hand weakness (r = 0.243, β = 0.203, P < .001) as independent predictors of disease severity. CONCLUSIONS AND RELEVANCE: These results highlight the phenotypic variability within CMT genotypes and mutation-specific manifestations between types. This study has identified distinct functional limitations and self-reported impairments to target in future therapeutic trials