112 research outputs found

    Globally aligned photomosaic of the Lucky Strike hydrothermal vent field (Mid-Atlantic Ridge, 37°18.5′N) : release of georeferenced data, mosaic construction, and viewing software

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    Author Posting. © American Geophysical Union, 2008. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Geochemistry Geophysics Geosystems 9 (2008): Q12009, doi:10.1029/2008GC002204.We present a georeferenced photomosaic of the Lucky Strike hydrothermal vent field (Mid-Atlantic Ridge, 37°18′N). The photomosaic was generated from digital photographs acquired using the ARGO II seafloor imaging system during the 1996 LUSTRE cruise, which surveyed a ∼1 km2 zone and provided a coverage of ∼20% of the seafloor. The photomosaic has a pixel resolution of 15 mm and encloses the areas with known active hydrothermal venting. The final mosaic is generated after an optimization that includes the automatic detection of the same benthic features across different images (feature-matching), followed by a global alignment of images based on the vehicle navigation. We also provide software to construct mosaics from large sets of images for which georeferencing information exists (location, attitude, and altitude per image), to visualize them, and to extract data. Georeferencing information can be provided by the raw navigation data (collected during the survey) or result from the optimization obtained from image matching. Mosaics based solely on navigation can be readily generated by any user but the optimization and global alignment of the mosaic requires a case-by-case approach for which no universally software is available. The Lucky Strike photomosaics (optimized and navigated-only) are publicly available through the Marine Geoscience Data System (MGDS, http://www.marine-geo.org). The mosaic-generating and viewing software is available through the Computer Vision and Robotics Group Web page at the University of Girona (http://eia.udg.es/∼rafa/mosaicviewer.html).This work has been supported by the EU Marie Curie RTNs MOMARNet (OD, RG, JE, LN, JF, NG) and FREESUBNet (RG, NG, XC), the Spanish Ministry of Science and Innovation (grant CTM2007–64751; RG, JE), CNRS and ANR (grant ANR NT05–3_42212, JE), ICREA (LN), and by the Generalitat de Catalunya (JE, RG). JF has been funded by MICINN under FPI grant BES-2006-12733 and NG has been supported by MICINN under the ‘‘Ramon y Cajal’’ program

    Opicapone as adjunct to levodopa in treated Parkinson\u27s disease without motor complications: A randomized clinical trial

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    \ua9 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.Background: Catechol-O-methyl transferase (COMT) inhibitors are routinely used to manage motor fluctuations in Parkinson\u27s disease (PD). We assessed the effect of opicapone on motor symptom severity in levodopa-treated patients without motor complications. Methods: This was a randomized, double-blind, 24-week, placebo-controlled study of opicapone 50 mg as adjunct to levodopa (NCT04978597). Levodopa-treated patients without motor complications were randomized to 24 weeks of double-blind treatment with adjunct opicapone 50 mg or matching placebo. The primary efficacy endpoint was the mean change from baseline to week 24 in Movement Disorder Society-Unified Parkinson\u27s Disease Rating Scale Part III (MDS-UPDRS-III) total score. Results: A total of 355 patients were randomized (opicapone 50 mg n = 177, placebo n = 178) and 322 (91%) completed the double-blind period. The adjusted mean [95% CI] change from baseline to week 24 in MDS-UPDRS-III subscore was −6.5 [−7.9, −5.2] in the opicapone group versus −4.3 [−5.7, 3.0] in the placebo group resulting in a significant difference of −2.2 [−3.9, −0.5] favoring opicapone (p = 0.010). There was no difference in the incidence of patients who developed motor complications (5.5% with opicapone vs. 9.8% with placebo) and the incidence of adverse events considered related to study medication was similar between groups (opicapone 10.2% vs. placebo 13.5%). Conclusions: Treatment with once-daily adjunct opicapone was well tolerated, improved motor severity, and did not induce the development of motor complications. These results support the clinical usefulness of opicapone in the management of PD patients without motor complications

    Natural history of SLC11 genes in vertebrates: tales from the fish world

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    <p>Abstract</p> <p>Background</p> <p>The <it>SLC11A1/Nramp1 </it>and <it>SLC11A2/Nramp2 </it>genes belong to the <it>SLC11/Nramp </it>family of transmembrane divalent metal transporters, with <it>SLC11A1 </it>being associated with resistance to pathogens and <it>SLC11A2 </it>involved in intestinal iron uptake and transferrin-bound iron transport. Both members of the <it>SLC11 </it>gene family have been clearly identified in tetrapods; however <it>SLC11A1 </it>has never been documented in teleost fish and is believed to have been lost in this lineage during early vertebrate evolution. In the present work we characterized the <it>SLC11 </it>genes in teleosts and evaluated if the roles attributed to mammalian <it>SLC11 </it>genes are assured by other fish specific <it>SLC11 </it>gene members.</p> <p>Results</p> <p>Two different <it>SLC11 </it>genes were isolated in the European sea bass (<it>Dicentrarchus. labrax</it>), and named <it>slc11a2-α </it>and <it>slc11a2-β</it>, since both were found to be evolutionary closer to tetrapods <it>SLC11A2</it>, through phylogenetic analysis and comparative genomics. Induction of <it>slc11a2-α </it>and <it>slc11a2-β </it>in sea bass, upon iron modulation or exposure to <it>Photobacterium damselae </it>spp. <it>piscicida</it>, was evaluated in <it>in vivo </it>or <it>in vitro </it>experimental models. Overall, <it>slc11a2-α </it>was found to respond only to iron deficiency in the intestine, whereas <it>slc11a2-β </it>was found to respond to iron overload and bacterial infection in several tissues and also in the leukocytes.</p> <p>Conclusions</p> <p>Our data suggests that despite the absence of <it>slc11a1</it>, its functions have been undertaken by one of the <it>slc11a2 </it>duplicated paralogs in teleost fish in a case of synfunctionalization, being involved in both iron metabolism and response to bacterial infection. This study provides, to our knowledge, the first example of this type of sub-functionalization in iron metabolism genes, illustrating how conserving the various functions of the SLC11 gene family is of crucial evolutionary importance.</p

    Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson\u27s disease study

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    \ua9 The Author(s) 2024. Estimates of the spectrum and frequency of pathogenic variants in Parkinson’s disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson’s disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 7 10−34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 7 10−35). Female patients were 22% more likely to have a positive PDGT (P = 3 7 10−4), and for individuals with FH+ this likelihood was 55% higher (P = 1 7 10−14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD

    Temperature mapping of trucks transporting fertile eggs and day-old chicks: Efficiency and/or acclimatization?

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    The aim of this study was to evaluate the thermal profiles of trucks used for transporting fertile eggs and day-old chicks. This study was carried out in a broiler hatchery in the State of Sao Paulo. The experiment was conducted during three months, in which six egg loads and 11 chick loads were observed. Thermal profile assessments were performed in an environmental controlled trucks with thermal control and following dimensions: 7.5 x 2.6 x 2.5 m for eggs, and 8.0 x 2.5 x 2.5 m for chicks. The maximum transport capacities were approximately of 592 boxes of eggs and 630 boxes of chicks, distributed all over the lorry. The thermal profiles were assessed at five-minutes-interval for eggs and in ten-minutes-interval for chicks, using thermal variables such as temperature, relative humidity and specific enthalpy. Geostatistics was used to model spatial dependency (by kriging). The results showed that the acclimatization in trucks was deficient. The loads were found to be submitted to an incompatible temperature, showing a huge thermal variety in the body trucks

    Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

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    Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (similar to 0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO &lt;= 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO &lt;= 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 x 10(-34)). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 x 10(-35)). Female patients were 22% more likely to have a positive PDGT (P = 3 x 10(-4)), and for individuals with FH+ this likelihood was 55% higher (P = 1 x 10(-14)). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that similar to 15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD
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