Fertility preservation in ovarian tumours

A considerable number of patients with a cancer diagnosis are of childbearing age and have not satisfied their desire for a family. Despite ovarian cancer (OC) usually occurring in older patients, 3%–14% are diagnosed at a fertile age with the overall 5-year survival rate being 91.2% in women ≤44 years of age when it is found at 1A–B stage. In this scenario, testing the safety and the efficacy of fertility sparing strategies in OC patients is very important overall in terms of quality of life. Unfortunately, the lack of randomised trials to validate conservative approaches does not guarantee the safety of fertility preservation strategies. However, evidence-based data from descriptive series suggest that in selected cases, the preservation of the uterus and at least one part of the ovary does not lead to a high risk of relapse. This conservative surgery helps to maintain organ function, giving patients of childbearing age the possibility to preserve their fertility. We hereby analysed the main evidence from the international literature on this topic in order to highlight the selected criteria for conservative management of OC patients, including healthy BRCA mutations carriers

Grip control and motor coordination with implanted and surface electrodes while grasping with an osseointegrated prosthetic hand

Background: Replacement of a lost limb by an artificial substitute is not yet ideal. Resolution and coordination of motor control approximating that of a biological limb could dramatically improve the functionality of prosthetic devices, and thus reduce the gap towards a suitable limb replacement. Methods: In this study, we investigated the control resolution and coordination exhibited by subjects with transhumeral amputation who were implanted with epimysial electrodes and an osseointegrated interface that provides bidirectional communication in addition to skeletal attachment (e-OPRA Implant System). We assessed control resolution and coordination in the context of routine and delicate grasping using the Pick and Lift and the Virtual Eggs Tests. Performance when utilizing implanted electrodes was compared with the standard-of-care technology for myoelectric prostheses, namely surface electrodes. Results: Results showed that implanted electrodes provide superior controllability over the prosthetic terminal device compared to conventional surface electrodes. Significant improvements were found in the control of the grip force and its reliability during object transfer. However, these improvements failed to increase motor coordination, and surprisingly decreased the temporal correlation between grip and load forces observed with surface electrodes. We found that despite being more functional and reliable, prosthetic control via implanted electrodes still depended highly on visual feedback. Conclusions: Our findings indicate that incidental sensory feedback (visual, auditory, and osseoperceptive in this case) is insufficient for restoring natural grasp behavior in amputees, and support the idea that supplemental tactile sensory feedback is needed to learn and maintain the motor tasks internal model, which could ultimately restore natural grasp behavior in subjects using prosthetic hands

Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis

In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a small, genetically isolated village in Sardinia, with well-characterized genealogical data linking the extant population up to the 16th century. It is expected that the number of risk alleles involved in complex disorders is smaller in isolated founder populations than in more diverse populations, and the power to detect association with complex traits may be increased when related, homogeneous affected individuals are selected, as they are more likely to be enriched with and share specific risk variants than are unrelated, affected individuals from the general population. When related individuals are included in an association study, correlations among relatives must be accurately taken into account to ensure validity of the results. A recently proposed association method uses an empirical genotypic covariance matrix estimated from genome-screen data to allow for additional population structure and cryptic relatedness that may not be captured by the genealogical data. We apply the method to our data, and we also investigate the properties of the method, as well as other association methods, in our highly inbred population, as previous applications were to outbred samples. The more promising regions identified in our initial study in the genetic isolate were then further investigated in an independent sample collected from the Italian population. Among the loci that showed association in this study, we observed evidence of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric acid metabolism that may be involved in gout as well as in nephrolithiasis

The Wikiplantbase project: the role of amateur botanists in building up large online floristic databases

The Wikiplantbase project, started in 2013, provides a framework where the full set of georeferenced floristic records of Tuscany and Sardinia can be entered, stored, updated and freely accessed through the Internet. Mainly thanks to the collaboration of amateur botanists, data have accumulated quickly. All records entered by collaborators are submitted to the project coordinators, who are enabled to accept, modify, or reject them. As of 22 November 2016, Wikiplantbase #Toscana holds 116,402 verified floristic records (90% based on published literature, 5% on unpublished herbarium specimens, 5% on field observations), and Wikiplantbase #Sardegna 40,043 (77% published literature, 18% unpublished herbarium specimens, 5% on field observations ). The records include over 90% of the specific and subspecific taxa known for Tuscany and about 70% – but rapidly growing – of those known for Sardinia. The most recorded species are Quercus ilex L. (Fagaceae) for Tuscany and Pistacia lentiscus L. (Anacardiaceae) for Sardinia. With minor software tweaking, the online platform Wikiplantbase might be adopted in other contexts, resulting in a well connected network of regional floristic databases suited to exploit the involvement – still largely untapped – of nonacademic collaborators, as advocated by citizen science

The Wikiplantbase project: the role of amateur botanists in building up large online floristic databases

The Wikiplantbase project, started in 2013, provides a framework where the full set of georeferenced floristic records of Tuscany and Sardinia can be entered, stored, updated and freely accessed through the Internet. Mainly thanks to the collaboration of amateur botanists, data have accumulated quickly. All records entered by collaborators are submitted to the project coordinators, who are enabled to accept, modify, or reject them. As of 22 November 2016, Wikiplantbase #Toscana holds 116,402 verified floristic records (90% based on published literature, 5% on unpublished herbarium specimens, 5% on field observations), and Wikiplantbase #Sardegna 40,043 (77% published literature, 18% unpublished herbarium specimens, 5% on field observations ). The records include over 90% of the specific and subspecific taxa known for Tuscany and about 70% – but rapidly growing – of those known for Sardinia. The most recorded species are Quercus ilex L. (Fagaceae) for Tuscany and Pistacia lentiscus L. (Anacardiaceae) for Sardinia. With minor software tweaking, the online platform Wikiplantbase might be adopted in other contexts, resulting in a well connected network of regional floristic databases suited to exploit the involvement – still largely untapped – of nonacademic collaborators, as advocated by citizen science

Chemotherapy resistance in epithelial ovarian cancer: Mechanisms and emerging treatments

Ovarian cancer (OC) remains a fatal malignancy because most patients experience recurrent disease, which is resistant to chemotherapy. The outcomes for patients with platinum-resistant OC are poor, response rates to further chemotherapy are low and median survival is lower than 12 months. The complexity of platinum-resistant OC, which comprises a heterogeneous spectrum of diseases, is indeed far from being completely understood. Therefore, comprehending tumors’ biological behaviour to identify reliable biomarkers, which may predict responses to therapies, is a demanding challenge to improve OC management. In the age of precision medicine, efforts to overcome platinum resistance in OC represent a dynamic and vast field in which innovative drugs and clinical trials rapidly develop. This review will present the exceptional biochemical environment implicated in OC and highlights mechanisms of chemoresistance. Furthermore, innovative molecules and new therapeutic opportunities are presented, along with currently available therapies and ongoing clinical trials

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

To better design association studies for complex traits in isolated populations it's important to understand how history and isolation moulded the genetic features of different communities. Population isolates should not “a priori” be considered homogeneous, even if the communities are not distant and part of a small region. We studied a particular area of Sardinia called Ogliastra, characterized by the presence of several distinct villages that display different history, immigration events and population size. Cultural and geographic isolation characterized the history of these communities. We determined LD parameters in 8 villages and defined population structure through high density SNPs (about 360 K) on 360 unrelated people (45 selected samples from each village). These isolates showed differences in LD values and LD map length. Five of these villages show high LD values probably due to their reduced population size and extreme isolation. High genetic differentiation among villages was detected. Moreover population structure analysis revealed a high correlation between genetic and geographic distances. Our study indicates that history, geography and biodemography have influenced the genetic features of Ogliastra communities producing differences in LD and population structure. All these data demonstrate that we can consider each village an isolate with specific characteristics. We suggest that, in order to optimize the study design of complex traits, a thorough characterization of genetic features is useful to identify the presence of sub-populations and stratification within genetic isolates

Case studies of Earth Constructions in the Sultanate of Oman: the settlements of Al Nazar and Al Yaman in Izki, 5th Seminar on Earth Architecture

Earth is a commonly used construction material and it is specially widespread in the Arabic Peninsula, due also to the lock of proper stone caves. This kind of architecture represents a living memory of the construction tecnique, the know how of the people of the area, reflecting anthropological aspects such as cultural, historic and socio – economic features. For all those aspects the built enviroment of the wilayat of Izki in Oman, and in particular the fort of Al Yaman, Al Yaman town and Al Nazar houses, are interesting case studies of islamic settlement. Both kind of constructions show different structural and construction devices commonly used in those areas, toghether with non-structural elements including painted ceilings, arches’ shapes, carved doors and other kind of decorations. Anyway the common technogical rule consist of the use of local materials from the near wadi (stones for basement – burned lime for mortar), the oasis (palm fronds and grass tatch for roofs and decks), the adjacent ground (earth for units and plaster). As for other cases in the northern regions of the country, these settlements are commonly erected nearby palm groves which surround the falaj, the omani irrigation system. The fortress, although collapsed in most parts, shows the typical planimetric organization of an Arabic Fort with the castle, the public well, the mosque inside the external walls and the system of defense towers. In the adjacence of the fortress is located the complex of Al Yaman houses, mainly built in earth construction. The good state of conservation of the settlement (recently abandoned) clearly shows as a modern small “Pompei” the usual arrangement of the town and of the single parts of it, such us the gate, the mosque, the wells, the houses. In this paper technical, structural and architectonical aspects will be discussed with the aim to underline the construction tecnique, the planimetric organization, the used materials, the state of conservation and the main factors of degradation. This kind of study of the build enviroment, in its multidisciplinary aspects, can be the first step for a future restoration in order to preserve building heritage as a testimoniance of Omani traditions and culture