82 research outputs found
Response of coccolithophore communities to oceanographic and atmospheric processes across the North- and Equatorial Atlantic
Changes in coccolithophore productivity in response to climate-driven ocean warming are likely to have cascading biogeochemical effects that feed back to the changing climate. This paper investigates the role (and interplay) of large-scale oceanographic and atmospheric processes across the North- and Equatorial Atlantic, including Saharan dust deposition, on the distribution of coccolithophore communities. The study is based on biological and hydrological data collected across the photic zone of the ocean, and aerosol data collected from the lower atmosphere, across 50°N–1°S during the Atlantic Meridional Transect in boreal Autumn of 2018 (AMT28), in synergy with Earth Observations. Results confirm existing understanding of the distribution of coccolithophore communities which are related to major meridional hydrological gradients across the North Atlantic. Dynamic, oxygenated and microphytoplankton-enriched waters at higher-latitudes were characterized by less diverse coccolithophore populations, dominated by placolith-bearing r-selected coccolithophores. In contrast, the heavily stratified and picoplankton-enriched waters of the subtropical gyre revealed more diverse populations, dominated by umbelliform coccolithophores and holococcolithophores at the surface, and by floriform taxa in the lower photic zone. Mean concentrations of 14.4×103 cells/L present in the North Atlantic Tropical Gyre Province (30–12°N), only slightly lower compared to 17.7×103 cells/L produced in the North Atlantic Drift province (50–40°N), provide a snapshot perspective on the importance of coccolithophore production in heavily stratified gyre conditions. Higher concentrations of 19’-Hexanoyloxyfucoxanthin (HexFuco) in regions of enhanced production of r-selected placolith-bearing species suggest that this pigment should not be generalized as a proxy for the entire coccolithophore community. Enhanced abundances of fast-blooming Emiliania huxleyi and Gephyrocapsa oceanica, and of cyanobacteria (including both picoplankton and N2-fixing Trichodesmium spp.) at the surface of the region of more persistent Saharan dust deposition (at ~12-10°N) appeared to result from dust-born nutrient input. Underneath this stratified surface layer, enhanced productivity in the deep chlorophyll maximum (DCM) appeared decoupled from that on the surface, fueled by geostrophic eastward shoaling of the nutricline across the tropical North Atlantic. As this was the region of highest macronutrient concentrations measured along and below the nutricline, our data suggest that the NE tropical Atlantic may act as a permanent dust-born nutrient depocenter as previously hypothesized
Observations on the morphological diversity and distribution of two siliceous nannoplankton genera, Hyalolithus and Petasaria
[perisylvian Syndrome: Report Of One Brazilian Family With Focus On The Genetic Mode Of Inheritance And Clinical Spectrum].
Perisylvian syndrome (PS) refers to a variety of clinical manifestations associated with lesions in the perisylvian or opercular region. Acquired lesions such as cerebrovascular diseases or virus encephalitis and congenital lesions such as polymicrogyria (PMG) may be implied as etiological factors. The onset of the PS may occur in early childhood. The aim of this study was to report one family with PS in order to draw attention to this rarely diagnosed entity. Our family has five affected patients, three children and two male adults. All of them had developmental language disorder. Epilepsy, motor deficit and pseudobulbar signs (such as drooling) were detected in one child who had diffuse PMG along the Sylvian fissure. Subtle clinical manifestations correlated with either subtle MRI findings or normal MRI. Most reported families provide evidence suggestive of X-linked transmission. However, the most likely mode of inheritance in our family is autosomal dominant, since a male to male transmission was documented.63459-6
Assessing phytoplankton community composition in the Atlantic Ocean from in situ and satellite observations
The Atlantic Meridional Transect (AMT) program (www.amt-uk.org) provides the perfect opportunity to observe the phytoplankton community size structure over a long latitudinal transect 50oN to 50oS, thereby covering the most important latitude-related basin-scale environmental gradients of the Atlantic Ocean. This work presents cell abundance data of phytoplankton taxa recently collected during cruises AMT28 and 29 (in 2018 and 2019, respectively) using flow cytometer and microscope observations, as well as the pigment composition of the community, to assess the abundance and spatial distribution of taxonomic groups across the Atlantic. The community size structure showed a clear consistency between cruises at large spatial scale, with a dominance of picoplanktonic Cyanobacteria in oceanic gyres, an increase in all groups in the equatorial upwelling region, and high biomass of microplankton size class at higher latitudes. Phytoplankton carbon biomass for oceanographic provinces, ranged from median values of 10 to 47 mg Carbon m-3, for the oligotrophic gyres, and South Atlantic (45°S-50oS), respectively. Satellite images of total chlorophyll a (as a proxy for phytoplankton biomass) as well as the relative contribution of the three phytoplankton size classes were produced for both cruises, and despite the small number of matchups, statistically agreed well with in situ size classes estimated as carbon biomass, constituting the first attempt in the literature to match satellite size classes with in situ data derived from cell abundance. The comparison of community structure between recent cruises (2019, 2018, 2015) and earlier ones (1995-1998) indicates a decrease in the number of diatom-bloom forming species, and an increase in Dinoflagellates, whereas nitrogen-fixing Trichodesmium abundance in tropical Atlantic remains constant. Within the recent period, a relative increase in the median values of picoplankton fraction was seen in SATL region, counterbalanced by a decrease in both nano- and microplankton fractions. Additionally, this study includes a database of species identified by microscopy, which had been interrupted for 20 years, providing a basis for long-term series of phytoplankton species
Boron clusters (ferrabisdicarbollides) shaping the future as radiosensitizers for multimodal (chemo/radio/PBFR) therapy of glioblastoma
Glioblastoma multiforme (GBM) is the most common and fatal primary brain tumor, and is highly resistant to conventional radiotherapy and chemotherapy. Therefore, the development of multidrug resistance and tumor recurrence are frequent. Given the poor survival with the current treatments, new therapeutic strategies are urgently needed. Radiotherapy (RT) is a common cancer treatment modality for GBM. However, there is still a need to improve RT efficiency, while reducing the severe side effects. Radiosensitizers can enhance the killing effect on tumor cells with less side effects on healthy tissues. Herein, we present our pioneering study on the highly stable and amphiphilic metallacarboranes, ferrabis(dicarbollides) ([o-FESAN]- and [8,8'-I2-o-FESAN]-), as potential radiosensitizers for GBM radiotherapy. We propose radiation methodologies that utilize secondary radiation emissions from iodine and iron, using ferrabis(dicarbollides) as iodine/iron donors, aiming to achieve a greater therapeutic effect than that of a conventional radiotherapy. As a proof-of-concept, we show that using 2D and 3D models of U87 cells, the cellular viability and survival were reduced using this treatment approach. We also tested for the first time the proton boron fusion reaction (PBFR) with ferrabis(dicarbollides), taking advantage of their high boron (11B) content. The results from the cellular damage response obtained suggest that proton boron fusion radiation therapy, when combined with boron-rich compounds, is a promising modality to fight against resistant tumors. Although these results are encouraging, more developments are needed to further explore ferrabis(dicarbollides) as radiosensitizers towards a positive impact on the therapeutic strategies for GBM.The authors received support from the Spanish Ministerio de Economía y Competitividad (PID2019-106832RB-100), the Generalitat de Catalunya (2017SGR1720), FCT - Fundação para a Ciência e a Tecnologia, in the scope of the project UID/Multi/04349/2019 and the projects LISBOA-01-0247-FEDER-045904 and UTAP-EXPL/FMT/0020/2021 of Centro de Ciências e Tecnologias Nucleares/IST, PTDC/BTM-TEC/29256/2017, UIDP/04565/2020 of iBB/IST, UIDP/04378/2020 and UIDB/04378/2020 of the Research Unit on Applied Molecular Biosciences – UCIBIO and the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy – i4HB. The Metrology Laboratory of Ionizing Radiation team of Centro Tecnológico e Nuclear, Instituto Superior Técnico (CTN/IST) is acknowledged for their support in the irradiation setups. Miquel Nuez-Martínez is enrolled in the PhD program of the UAB. MQM and VMA acknowledge financial support by the Spanish Government MCIN/AEI/10.13039/501100011033 (project 2019-108434GB-I00 to VMA and project IJC2018-035283-I to MQM), and Universitat Jaume I (project UJI-B2018-53 to V. M. A. and project UJI-A2020-21 to MQM). SV thanks Croatian Science Foundation (project IP-2018-01-3168). Catarina I.G. Pinto is enrolled in the PhD scholarship 689 DFA/BD/07119/2020.With funding from the Spanish government through the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2019-000917-S).Peer reviewe
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
Background: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.Methods: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and late-onset familial Portuguese Parkinson disease patients. This series comprises 66 patients selected from a consecutive series of 132 patients. This selection was made in order to include only early onset patients (age at onset below 50 years) or late-onset patients with a positive family history (at least one affected relative). All genes were sequenced bi-directionally, and, additionally, SNCA, PRKN and PINK1 were subjected to gene dosage analysis.Results: We found mutations both in LRRK2 and PRKN, while the remaining genes yielded no mutations. Seven of the studied patients showed pathogenic mutations, in homozygosity or compound heterozygosity for PRKN, and heterozygosity for LRRK2.Conclusion: Mutations are common in Portuguese patients with Parkinson's disease, and these results clearly have implications not only for the genetic diagnosis, but also for the genetic counseling of these patients
Impairment of episodic memory in genetic frontotemporal dementia : a GENFI study
© 2021 The Authors. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring published by Wiley Periodicals, LLC on behalf of Alzheimer's Association.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.Introduction: We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT).
Methods: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73 microtubule-associated protein tau [MAPT]) and 290 controls. Group differences and correlations with other neuropsychological tests were examined. We performed voxel-based morphometry to investigate the underlying neural substrates of the FCSRT.
Results: All symptomatic mutation carrier groups and presymptomatic MAPT mutation carriers performed significantly worse on all FCSRT scores compared to controls. In the presymptomatic C9orf72 group, deficits were found on all scores except for the delayed total recall task, while no deficits were found in presymptomatic GRN mutation carriers. Performance on the FCSRT correlated with executive function, particularly in C9orf72 mutation carriers, but also with memory and naming tasks in the MAPT group. FCSRT performance also correlated with gray matter volumes of frontal, temporal, and subcortical regions in C9orf72 and GRN, but mainly temporal areas in MAPT mutation carriers.
Discussion: The FCSRT detects presymptomatic deficits in C9orf72- and MAPT-associated FTD and provides important insight into the underlying cause of memory impairment in different forms of FTD.The Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the NIHR UCL/H Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society, and Alzheimer's Research UK. J. D. Rohrer is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). This work was also supported by the MRC UK GENFI grant (MR/M023664/1); the Bluefield Project; the JPND GENFI-PROX grant (2019-02248); the Dioraphte Foundation (grant numbers 09-02-00); the Association for Frontotemporal Dementias Research Grant 2009; The Netherlands Organization for Scientific Research (NWO; grant HCMI 056-13-018); ZonMw Memorabel (Deltaplan Dementie, project numbers 733 050 103 and 733 050 813); JPND PreFrontAls consortium (project number 733051042). J. M. Poos is supported by a Fellowship award from Alzheimer Nederland (WE.15-2019.02). This work was conducted using the MRC Dementias Platform UK (MR/L023784/1 and MR/009076/1). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510.info:eu-repo/semantics/publishedVersio
Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort
© 2022 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/4.0/).Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD.
Methods: Empathy was examined using a modified version of the Interpersonal Reactivity Index (mIRI) in 676 participants from the Genetic FTD Initiative: 216 mutation-negative controls, 192 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. Using global scores from the CDR® plus NACC FTLD, mutation carriers were divided into three groups, asymptomatic (0), very mildly symptomatic/prodromal (.5), or fully symptomatic (1 or more). The mIRI Total score, as well as the subscores of Empathic Concern (EC) and Perspective Taking (PT) were assessed. Linear regression models with bootstrapping were used to assess empathy ratings across genetic groups, as well as across phenotypes in the symptomatic carriers. Neural correlates of empathy deficits were examined using a voxel-based morphometry (VBM) analysis.
Results: All fully symptomatic groups scored lower on the mIRI Total, EC, and PT when compared to controls and their asymptomatic or prodromal counterparts (all p < .001). Prodromal C9orf72 expansion carriers also scored significantly lower than controls on the mIRI Total score (p = .046). In the phenotype analysis, all groups (behavioural variant FTD, primary progressive aphasia and FTD with amyotrophic lateral sclerosis) scored significantly lower than controls (all p < .007). VBM revealed an overlapping neural correlate of the mIRI Total score across genetic groups in the orbitofrontal lobe but with additional involvement in the temporal lobe, insula and basal ganglia in both the GRN and MAPT groups, and uniquely more posterior regions such as the parietal lobe and thalamus in the GRN group, and medial temporal structures in the MAPT group.
Conclusions: Significant empathy deficits present in genetic FTD, particularly in symptomatic individuals and those with a bvFTD phenotype, while prodromal deficits are only seen using the mIRI in C9orf72 expansion carriers.This work was supported by the NIHR UCL/H Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. JDR is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Bluefield Project and the JPND GENFI-PROX grant (2019-02248). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510. RC/CG are supported by a Frontotemporal Dementia Research Studentships in Memory of David Blechner funded through The National Brain Appeal (RCN 290173). MB is supported by a Fellowship award from the Alzheimer's Society, UK (AS-JF-19a-004-517). MB's work is also supported by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. JCVS was supported by the Dioraphte Foundation grant 09-02-03-00, the Association for Frontotemporal Dementias Research Grant 2009, The Netherlands Organisation for Scientific Research grant HCMI 056-13-018, ZonMw Memorabel (Deltaplan Dementie, project number 733 051 042), Alzheimer Nederland and the Bluefield project. FM received funding from the Tau Consortium and the Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED). RS-V is supported by an Alzheimer’s Research UK Clinical Research Training Fellowship (ARUK-CRF2017B-2), and has received funding from Fundació Marató de TV3, Spain (grant no. 20143810). CG received funding from JPND-Prefrontals VR Dnr 529-2014-7504, VR 2015-02926 and 2018-02754, the Swedish FTD Inititative-Schörling Foundation, Alzheimer Foundation, Brain Foundation and Stockholm County Council ALF. MM has received funding from a Canadian Institute of Health Research operating grant and the Weston Brain Institute and Ontario Brain Institute. JBR has received funding from the Wellcome Trust (103838) and is supported by the Cambridge University Centre for Frontotemporal Dementia, the Medical Research Council (SUAG/051 G101400) and the National Institute for Health Research Cambridge Biomedical Research Centre (BRC-1215-20014). EF has received funding from a CIHR grant #327387. DG received support from the EU Joint Programme – Neurodegenerative Disease Research and the Italian Ministry of Health (PreFrontALS) grant 733051042. RV has received funding from the Mady Browaeys Fund for Research into Frontotemporal Dementia. MO has received funding from BMBF (FTLDc).info:eu-repo/semantics/publishedVersio
Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago
Background: Literature suggests colonic resection and primary anastomosis (RPA) instead of Hartmann's procedure (HP) for the treatment of left-sided colonic emergencies. We aim to evaluate the surgical options globally used to treat patients with acute left-sided colonic emergencies and the factors that leading to the choice of treatment, comparing HP and RPA. Methods: This is a prospective, international, multicenter, observational study registered on ClinicalTrials.gov. A total 1215 patients with left-sided colonic emergencies who required surgery were included from 204 centers during the period of March 1, 2020, to May 31, 2020. with a 1-year follow-up. Results: 564 patients (43.1%) were females. The mean age was 65.9 ± 15.6 years. HP was performed in 697 (57.3%) patients and RPA in 384 (31.6%) cases. Complicated acute diverticulitis was the most common cause of left-sided colonic emergencies (40.2%), followed by colorectal malignancy (36.6%). Severe complications (Clavien-Dindo ≥ 3b) were higher in the HP group (P < 0.001). 30-day mortality was higher in HP patients (13.7%), especially in case of bowel perforation and diffused peritonitis. 1-year follow-up showed no differences on ostomy reversal rate between HP and RPA. (P = 0.127). A backward likelihood logistic regression model showed that RPA was preferred in younger patients, having low ASA score (≤ 3), in case of large bowel obstruction, absence of colonic ischemia, longer time from admission to surgery, operating early at the day working hours, by a surgeon who performed more than 50 colorectal resections. Conclusions: After 100 years since the first Hartmann's procedure, HP remains the most common treatment for left-sided colorectal emergencies. Treatment's choice depends on patient characteristics, the time of surgery and the experience of the surgeon. RPA should be considered as the gold standard for surgery, with HP being an exception
The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort
Abstract: Background: Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. Methods: We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional sensitivity in 730 participants from the genetic FTD initiative (GENFI) observational study: 269 mutation-negative healthy controls, 193 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. All participants underwent the standardised GENFI clinical assessment including the ‘CDR® plus NACC FTLD’ scale and RSMS. The RSMS total score and its two subscores, socioemotional expressiveness (EX score) and modification of self-presentation (SP score) were measured. Volumetric T1-weighted magnetic resonance imaging was available from 377 mutation carriers for voxel-based morphometry (VBM) analysis. Results: The RSMS was decreased in symptomatic mutation carriers in all genetic groups but at a prodromal stage only in the C9orf72 (for the total score and both subscores) and GRN (for the modification of self-presentation subscore) groups. RSMS score correlated with disease severity in all groups. The VBM analysis implicated an overlapping network of regions including the orbitofrontal cortex, insula, temporal pole, medial temporal lobe and striatum. Conclusions: The RSMS indexes socioemotional impairment at an early stage of genetic FTD and may be a suitable outcome measure in forthcoming trials
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