The development of colorectal cancer(CRC)can be influenced by genetic factors in both familial cases and sporadic cases.Familial CRC has been associated with genetic changes in high-,moderate-and ...low-penetrance susceptibility genes.However,despite the availability of current gene-identification techniques,the genetic causes of a considerable proportion of hereditary cases remain unknown.Genome-wide association studies of CRC have identified a number of common lowpenetrance alleles associated with a slightly increased or decreased risk of CRC.The accumulation of low-risk variants may partly explain the familial risk of CRC,and some of these variants may modify the risk of cancer in patients with mutations in high-penetrance genes.Understanding the predisposition to develop CRC will require investigators to address the following challenges:the identification of genes that cause uncharacterized hereditary cases of CRC such as familial CRC type X and serrated polyposis;the classification of variants of unknown significance in known CRC-predisposing genes;and the identification of additional cancer risk modifiers that can be used to perform risk assessments for individual mutation carriers.We performed a comprehensive review of the genetically characterized and uncharacterized hereditary CRC syndromes and of lowand moderate-penetrance loci and variants identified through genome-wide association studies and candidate-gene approaches.Current challenges and future perspectives in the field of CRC predisposition are also discussed.
In this work the flexibility of the kesterite structure is discussed. It is shown that kesterite type CZTS and CZTSe can deviate from stoichiometric composition by the formation of intrinsic point ...defects leading to different off-stoichiometric kesterite types. For this study off-stoichiometric CZTS and CZTSe powder samples have been synthesized by solid state reaction from pure elements. Their chemical composition was determined by WDX spectroscopy and the structural characterization was conducted by X-ray diffraction. Amongst the studied 49 samples, a number of them have been identified to contain only an off-stoichiometric kesterite type phase which exhibit Cu-poor/Zn-rich composition. On the other hand, Cu-rich/Zn-poor kesterite type CZTS and CZTSe always coexists with secondary phases. Thus it has been demonstrated, that the kesterite type structure can self-adapt to Cu-poor and Cu-rich compositions in CZTS and CZTSe without any structural change except the cation distribution.
In this work the flexibility of the kesterite structure is discussed. It is shown that kesterite type CZTS/Se can deviate from stoichiometric composition by the formation of intrinsic point defects leading to different off-stoichiometric kesterite types. For this study 49 off-stoichiometric CZTS/Se powder samples have been synthetized by solid state reaction from pure elements. Their chemical composition was determined by WDX spectroscopy and the lattice parameters were obtained by X-ray diffraction. Amongst the studied samples, a number of them have been identified to contain only an off-stoichiometric kesterite type phase which exhibit Cu-poor/Zn-rich composition. On the other hand, Cu-rich/Zn-poor kesterite type CZTS/Se always coexists with secondary phases. It has been demonstrated, that the kesterite type structure can self-adapt to copper-poor and copper-rich compositions in CZTS/Se without any structural change except the cation distribution. Display omitted
•Cu2ZnSnS/Se4 samples synthesized by solid state reaction.•WDX spectroscopy and the structural characterization by X-ray diffraction.•Proved of existence off single phase off-stoichiometric Cu2ZnSnS/Se4.
The use of the new International Association of the Diabetes and Pregnancy Study Groups criteria (IADPSGC) for the diagnosis of gestational diabetes mellitus (GDM) results in an increased prevalence ...of GDM. Whether their introduction improves pregnancy outcomes has yet to be established. We sought to evaluate the cost-effectiveness of one-step IADPSGC for screening and diagnosis of GDM compared with traditional two-step Carpenter-Coustan (CC) criteria.
GDM risk factors and pregnancy and newborn outcomes were prospectively assessed in 1,750 pregnant women from April 2011 to March 2012 using CC and in 1,526 pregnant women from April 2012 to March 2013 using IADPSGC between 24 and 28 weeks of gestation. Both groups received the same treatment and follow-up regimes.
The use of IADPSGC resulted in an important increase in GDM rate (35.5% vs. 10.6%) and an improvement in pregnancy outcomes, with a decrease in the rate of gestational hypertension (4.1 to 3.5%: -14.6%, P < 0.021), prematurity (6.4 to 5.7%: -10.9%, P < 0.039), cesarean section (25.4 to 19.7%: -23.9%, P < 0.002), small for gestational age (7.7 to 7.1%: -6.5%, P < 0.042), large for gestational age (4.6 to 3.7%: -20%, P < 0.004), Apgar 1-min score <7 (3.8 to 3.5%: -9%, P < 0.015), and admission to neonatal intensive care unit (8.2 to 6.2%: -24.4%, P < 0.001). Estimated cost savings was of €14,358.06 per 100 women evaluated using IADPSGC versus the group diagnosed using CC.
The application of the new IADPSGC was associated with a 3.5-fold increase in GDM prevalence in our study population, as well as significant improvements in pregnancy outcomes, and was cost-effective. Our results support their adoption.
The development of genome-wide massively parallel sequencing, ie, whole-genome and whole-exome sequencing, and copy number approaches has raised high expectations for the identification of novel ...hereditary colorectal cancer genes. Although relatively successful for genes causing adenomatous polyposis syndromes, both autosomal dominant and recessive, the identification of genes associated with hereditary non-polyposis colorectal cancer has proven extremely challenging, mainly because of the absence of major high-penetrance genes and the difficulty in demonstrating the functional impact of the identified variants and their causal association with tumor development. Indeed, most, if not all, novel candidate non-polyposis colorectal cancer genes identified so far lack corroborative data in independent studies. Here we review the novel hereditary colorectal cancer genes and syndromes identified and the candidate genes proposed in recent years as well as discuss the challenges we face.
The Balearic coastline presents an environmental and biological heterogeneity, which confers great complexity on the marine environment and treasures important biodiversity, both at the level of ...species and marine communities. The endemic phanerogam of the Mediterranean Sea, Posidonia oceanica, holds a pivotal role in maintaining high biodiversity, warranting protection as stipulated in the Posidonia Decree 25/2018. The purpose of this study is to provide quantitative criteria that will allow the delimitation of areas with Posidonia oceanica for conservation and to aid planning and management of this species, contributing to the reduction of biodiversity loss caused by anthropogenic impacts and global change. Utilizing a comprehensive approach, the study employs photo interpretation of aerial photographs taken at depths between 0 and 5 m, data from Side-Scan Sonar (SSS) campaigns, reprocessing information from the LIFE Posidonia project at depths between 20 and 30 m, and targeted sampling using Remote Operated Vehicles (ROV) and ocular recognition at strategic points. The research not only seeks to assess the present state of the phanerogam but also analyzes its evolution, establishing a technological database for consultation and integrated analysis. This database facilitates effective management by tracking habitat changes, representing a significant contribution to the understanding of the impact of global change on ecosystems through Geographical Information Technologies (TIGs).
This is the first single-authored monograph on Roald Dahl since 1994. Remarkably, in spite of Dahl's commercial success, and the divided opinions he generates, very little scholarly work on the ...author has been produced. In the light of sociocultural constructivist theory, De-constructing Dahl focuses on the critical context, texts and paratexts that make up the packaging of "Dahl." It offers the first thorough overview of the criticism and the language employed to discuss Dahl since the 1970s, the difficulties that using such language entails, and how it still permeates current criticism. It delves into the relationship between Dahl's children's and adult fiction by drawing comparisons and contrasts and exploring the common traits and patterns that bring his whole work together. It also examines how Dahl constructed himself as a children's writer; how his publishing house and allies contribute to mediating and sustaining the Dahl public persona; the ways that marketing strategies are responsible for the identity of his books; and how editorial decisions about the age range, and, therefore, how the classification of a manuscript as a book for children or for adults constructs particular ideas of what "children's literature" is, and what is considered "appropriate" or "unsuitable" for children to read.
Some evidence supports the fact that chronic low-grade inflammation contributes to the physiopathology of type 2 diabetes mellitus (T2DM), and circulating markers of inflammation (e.g., C-reactive ...protein (CRP), pro- and anti-inflammatory biomarkers (e.g., adiponectin), and endothelial function markers could indicate an ongoing pathology. Following certain dietary patterns (DPs) may result in favorable changes in inflammatory biomarkers. The overarching aim of this systematic review and meta-analysis is to explore the inflammatory effect of healthy DPs on inflammatory biomarkers in adults with T2DM. A systematic search of the literature was conducted using the electronic databases MEDLINE, SCOPUS, and Cochrane Central Register of Controlled Trials. A total of 10 randomized controlled clinical trials (RCTs) were analyzed. In our linear meta-analysis, the random-effects model was applied to estimate standardized mean differences (SMD) to associate the effect of the interventions. Dietary Approaches to Stop Hypertension (DASH), Diabetes UK healthy eating, Mediterranean Diet (MD), Diabetes Prevention Program (DPP), and the American Heart Association’s Therapeutic Lifestyle Changes diet were associated with a significant reduction in CRP (SMD: −0.83, 99% CI −1.49, −0.17, p < 0.001; I2 94%), while plasma levels of adiponectin were significantly higher with the intake of MD, DPP, and Diabetes UK healthy eating (SMD: 0.81, 99% CI 0.06,1.56, p < 0.005; I2 96%), both of which indicate less inflammation. Sensitivity analyses were carried out, and potential publication bias was examined. In conclusion, low- moderate-quality evidence from RCTs suggests that, for the DPs evaluated, there are favorable changes in CRP and adiponectin.
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