120 research outputs found

    Relations entre le diabÚte sucré de type 2 et l'amyloïdose chez le chat : étude bibliographique

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    Les dépÎts amyloïdes représentent l'altération la plus typique des ßlots pancréatiques chez les personnes atteintes de diabÚte de type 2 (non-insulino-dépendant) et chez les chats diabétiques. AprÚs avoir rappelé les définitions et les classifications du diabÚte sucré et de l'amyloïdose, les mécanismes de formation des dépÎts amyloïdes dans le pancréas à partir de l'amyline (ou Insular Amyloid PolyPepide) sont exposés. AprÚs présentation des différentes étiologies du diabÚte sucré, l'implication de l'amyloïdose est envisagée dans chaque mécanisme physiologique et ses possibles altérations conduisant au développement de cette affection. Les conséquences de ces observations sur la population des chats diabétiques sont évoquées. La derniÚre partie aborde la démarche diagnostique du diabÚte sucré chez le chat et intÚgre dans la démarche thérapeutique classique la possibilité de prévention des dépÎts amyloïdes

    Climate risk perception, management, and adaptation in the Nordic mining sector

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    Climate change can affect the mining sector in various ways. Physical impacts can be a threat to mines and personnel, transport infrastructure and supply chains, while the low-carbon transition may entail transition risks stemming from e.g., the need to respond to mitigation and adaptation policies, as well as opportunities in the form of increased metal and mineral demand. However, there is little knowledge of how mining companies perceive, manage, and respond to risks related to climate change. To address this knowledge gap, we examined annual and sustainability reports from 2019 for active metal mines in Finland, Sweden, and Norway. Through a structuring qualitative content analysis, we analysed the mining companies’ self-reported experience of and expectations for climate change impacts and risks, as well as adaptation and management activities taken or planned. Our findings indicate that physical impacts of climate change are not perceived as a major risk. In contrast, mitigation activities and reactions to climate policies play an important role, at least for some of the companies. Hence, the mining sector would benefit from more stringent risk reporting regulations and distinctive guidelines, as well as more research on the direct and indirect climate change impacts.Peer reviewe

    Deltaic and Coastal Sediments as Recorders of Mediterranean Regional Climate and Human Impact Over the Past Three Millennia

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    This work was financially supported by the MISTRALS/PaleoMex program and by the Project of Strategic Interest NextData PNR 2011–2013 (www. nextdataproject.it). Lionel Savignan is thanked for his participation in the biomarker analysis. Radiocarbon datings for core KESC9-14 have been funded by Institut Carnot Ifremer-EDROME (grant A0811101). We also thank the Holocene North-Atlantic Gyres and Mediterranean Overturning dynamic through Climate Changes (HAMOC) project for financial support. The biomarker data presented here are available in the supporting information.Peer reviewedPublisher PD

    A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

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    Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategie

    16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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    Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 × 10−6, odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10−4). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical R