35 research outputs found

    From Caves to the Savannah, the Mitogenome History of Modern Lions (Panthera leo) and Their Ancestors

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    Lions (Panthera leo) play a crucial ecological role in shaping and maintaining fragile ecosystems within Africa. Conservation efforts should focus on genetic variability within wild populations when considering reintroduction attempts. We studied two groups of lions from two conservation sites located in Zambia and Zimbabwe to determine their genetic make-up, information that is usually unknown to the sites. In this study, we analysed 17 specimens for cytb and seven microsatellite markers to ascertain family relationships and genetic diversity previously obtained by observational studies. We then produced a standardised haplogroup phylogeny using all available entire mitogenomes, as well as calculating a revised molecular clock. The modern lion lineage diverged ~151 kya and was divided into two subspecies, both containing three distinct haplogroups. We confirm that Panthera leo persica is not a subspecies, but rather a haplogroup of the northern P.l. leo that exited Africa at least ~31 kya. The progenitor to all lions existed ~1.2 Mya, possibly in SE Africa, and later exited Africa and split into the two cave lion lineages ~175 kya. Species demography is correlated to major climactic events. We now have a detailed phylogeny of lion evolution and an idea of their conservation status given the threat of climate change

    Longitudinal study on low-dose aspirin versus placebo administration in silent brain infarcts: the silence study

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    Background. We investigated low-dose aspirin (ASA) efficacy and safety in subjects with silent brain infarcts (SBIs) in preventing new cerebrovascular (CVD) events as well as cognitive impairment. Methods. We included subjects aged ≥45 years, with at least one SBI and no previous CVD. Subjects were followed up to 4 years assessing CVD and SBI incidence as primary endpoint and as secondary endpoints: (a) cardiovascular and adverse events and (b) cognitive impairment. Results. Thirty-six subjects received ASA while 47 were untreated. Primary endpoint occurred in 9 controls (19.1%) versus 2 (5.6%) in the ASA group (p=0.10). Secondary endpoints did not differ in the two groups. Only baseline leukoaraiosis predicts primary [OR 5.4 (95%CI 1.3-22.9, p=0.022)] and secondary endpoint-A [3.2 (95%CI 1.1-9.6, p=0.040)] occurrence. Conclusions. These data show an increase of new CVD events in the untreated group. Despite the study limitations, SBI seems to be a negative prognostic factor and ASA preventive treatment might improve SBI prognosis. EU Clinical trial is registered with EudraCT Number: 2005-000996-16; Sponsor Protocol Number: 694/30.06.04

    Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

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    Aim: Assigning a disease-locus within the shortest regions of overlap (SRO) shared by deleted/duplicated subjects presenting this disease is a robust mapping approach, although the presence of different malformation traits and their attendance only in a part of the affected subjects can hinder the interpretation. To overcome the problem of incomplete penetrance, we developed an algorithm that we applied to the deletion region 1q23.3-q25, which contains three SROs, each contributing to the abnormal phenotype without clearly distinguishing between the different malformations. We describe six new subjects, including a healthy father and his daughter, with 1q23.3-q25 deletion of different sizes. The aim of this study was to correlate specific abnormal traits to the haploinsufficiency of specific gene/putative regulatory elements. Methods: Merging cases with those in the literature, we considered four traits, namely intellectual disability (ID), microcephaly, short-hands/feet, and brachydactyly, and conceived a mathematical model to predict with what probability the haploinsufficiency of a specific portion of the deletion region is associated with one of the four malformations. Results: The haploinsufficiency of PBX1 is strongly associated with ID. DNM3 and LHX4 are confirmed as responsible for growth retardation, whereas ATPIB1 was identified as a new candidate gene for microcephaly, short-hands/feet, and brachydactyly. Conclusion: Although our model is hampered by long-term position effects of regulatory elements, synergistic cooperation of several genes, and incomplete clinical assessment, it can be useful for contiguous gene syndromes showing a complex pattern of clinical characteristics. Obviously, functional approaches are needed to warrant its reliability

    Hipertensão arterial e diabetes mellitus: prevalência e impacto econômico em Goiânia e região metropolitana de 2008 a 2017

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    Objective: To estimate the prevalence of systemic arterial hypertension and diabetes mellitus, and to evaluate the average costs of hospitalizations for complications resulting from inadequate disease control. Methods: A cross-sectional study analyzed the prevalence and economic impact of systemic arterial hypertension and diabetes mellitus in Goiânia and metropolitan region from 2008 to 2017. We surveyed the referred diagnosis and average cost of hospitalizations due to complications of the two diseases from the following: Surveillance of Risk Factors and Protection for Chronic Diseases by Telephone and Hospital Inpatient Surveys of the Unified Health System. Results: The prevalence rate of both diseases was higher in women, ranging from 34.31% for systemic arterial hypertension and 8.64% for diabetes mellitus between 2008 and 2017. Concerning men, there was a variation of 28.88% for hypertension and 8.55% for diabetes mellitus. The average cost of hospitalizations for complications related to both diseases was R1,392,973.40inadecade,withthemediumcostvaryingbetweenthem.Conclusion:TherewerehighprevalenceratesofsystemicarterialhypertensionanddiabetesmellitusinresidentadultsofGoia^niaandmetropolitanregionsduringtheinvestigatedperiod.Also,therewasahighaveragecostinhospitalizationsassociatedwithcomplicationsoftheillness.Thefindingssuggesttheneedforhealthsurveillanceactionsaimedatstructuringpreventionstrategies,encouragingtreatmentadherenceandmanagingsystemicarterialhypertensionanddiabetesmellitus.Objetivo:Estimaraprevale^nciadehipertensa~oarterialsiste^micaedediabetesmellituseavaliaroscustosmeˊdiosdeinternac\co~esporcomplicac\co~esdecorrentesdomaucontroledadoenc\ca.Meˊtodos:Estudoobservacionaldescritivoqueanalisouaprevale^nciaeoimpactoecono^micodahipertensa~oarterialsiste^micaedodiabetesmellitusemGoia^niaeregia~ometropolitanade2008a2017.Foramanalisadosodiagnoˊsticoreferidoecustomeˊdiodasinternac\co~esporcomplicac\co~esdasduasdoenc\cas,apartirdosbancosdedadosVigila^nciadeFatoresdeRiscoeProtec\ca~oparaDoenc\casCro^nicasporInqueˊritoTelefo^nicoedoSistemadeInternac\co~esHospitalaresdoSistemaUˊnicodeSauˊde.Resultados:Aprevale^nciaparaasduasdoenc\casfoimaioremmulheres,variando34,31 1,392,973.40 in a decade, with the medium cost varying between them. Conclusion: There were high prevalence rates of systemic arterial hypertension and diabetes mellitus in resident adults of Goiânia and metropolitan regions during the investigated period. Also, there was a high average cost in hospitalizations associated with complications of the illness. The findings suggest the need for health surveillance actions aimed at structuring prevention strategies, encouraging treatment adherence and managing systemic arterial hypertension and diabetes mellitus.Objetivo: Estimar a prevalência de hipertensão arterial sistêmica e de diabetes mellitus e avaliar os custos médios de internações por complicações decorrentes do mau controle da doença. Métodos: Estudo observacional descritivo que analisou a prevalência e o impacto econômico da hipertensão arterial sistêmica e do diabetes mellitus em Goiânia e região metropolitana de 2008 a 2017. Foram analisados o diagnóstico referido e custo médio das internações por complicações das duas doenças, a partir dos bancos de dados Vigilância de Fatores de Risco e Proteção para Doenças Crônicas por Inquérito Telefônico e do Sistema de Internações Hospitalares do Sistema Único de Saúde. Resultados: A prevalência para as duas doenças foi maior em mulheres, variando 34,31% para hipertensão arterial sistêmica e 8,64% para diabetes mellitus entre 2008 e 2017. Para os homens, observou-se variação de 28,88% para a hipertensão arterial sistêmica e 8,55% para o diabetes mellitus. O custo médio das hospitalizações por agravos relacionados às duas doenças foi de 1.392.973,40 R em uma década, com custo médio variando entre os agravos. Conclusão: As taxas de prevalência de hipertensão arterial sistêmica e diabetes mellitus em adultos residentes de Goiânia e região metropolitana mostrou-se elevada durante o período analisado. Também verificou-se custo médio elevado nas internações hospitalares associadas a complicações da doença. Os achados deste estudo sugerem a necessidade de ações de vigilância em saúde, visando a estruturação de estratégias de prevenção, estímulo a adesão ao tratamento e controle da hipertensão arterial sistêmica e diabetes mellitus.&nbsp

    Disease-specific and general health-related quality of life in newly diagnosed prostate cancer patients: The Pros-IT CNR study

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    Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia

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    Reperfusion Strategies for Acute Ischaemic Stroke From Past to Present: An Overview Towards Future Perspectives

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    Timely reperfusion of brain ischaemic tissue is the main therapeutic target for acute stroke. In the last few decades many recanalisation strategies have been studied by randomised controlled trials (RCTs), including intravenous (IV), intra-arterial (IA), and combined approaches. Clinical research is addressed to identify the drug associated with the better reperfusion properties and the lower rate of side-effects. To date, according to current evidence-based guidelines, IV tissue plasminogen activator (tPA) is the only approved treatment for acute ischaemic stroke (AIS) within 4.5 hours from onset. Other IV thrombolytics, such as tenecteplase and desmoteplase, have shown promising results in preliminary RCTs and are currently being investigated to produce further evidence. Endovascular catheter-based treatments (including IA administration of thrombolytics or mechanical thrombectomy) have quite inferior feasibility, being performed only by stroke-trained interventional neuroradiologists. Until a few months ago, many trials had investigated the safety and efficacy of endovascular techniques compared with IV tPA without consistent results, limiting their application to patients with contraindications or poor response to IV tPA. More recently, the Multicenter Randomized Clinical trial of Endovascular treatment for Acute ischemic stroke in the Netherlands (MR CLEAN), Endovascular treatment for Small Core and Anterior circulation Proximal occlusion with Emphasis on minimizing CT to recanalization times (ESCAPE), and Extending the Time for Thrombolysis in Emergency Neurological Deficits–Intra-arterial (EXTEND-IA) trial results have demonstrated the superiority of endovascular procedures associated with standard care in AIS due to proximal arterial occlusion in the anterior cerebral circulation. These data are going to change the current decision-making process and the care pathway in AIS patients

    Waste‐Valorized Nanowebs for Crystal Violet Removal from Water

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    Lightweight, metal‐free, sustainable, and reusable adsorbent materials are of paramount significance in addressing the challenges of wastewater treatment. Accordingly, semi‐crystalline nanocellulose (NC) is extracted from tissue paper waste and used to modify polyacrylonitrile (PAN) to produce electrospun nanowebs with strand diameters from ≈180–300 nm. The incorporation of NC into PAN is confirmed by infrared and Raman spectroscopy and X‐Ray diffraction. When tested for crystal violet (CV) adsorption, NC‐modified PAN (20% NC@PAN) exhibits the highest CV removal capacity, achieving 91–94% removal over three cycles each, demonstrating exceptional recyclability. In contrast, unmodified PAN significantly decreases in CV adsorption capacity (from 59% to 48% in the third cycle), possibly due to an increased (≈36%) nanofiber diameter. The adsorption kinetics, exhibiting pseudo‐second order, interparticle (in between nanofibers) diffusion, and Elovich kinetic models emphasize the role of multilayer CV adsorption through reversible chemical interactions. Confocal micro‐Raman spectroscopy unveils a multifaceted CV adsorption mechanism, suggesting both surface and multilayer diffusion, with NC‐enhancing interactions. These findings demonstrate the potential of NC‐modified PAN nanowebs as effective and environmentally sustainable adsorbents for removing CV from aqueous solutions, suggesting promising practical applications

    Genetic Variability and Admixture Zones in the Italian Populations of Turkey Oak (<i>Quercus cerris</i> L.)

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    The Turkey oak (Quercus cerris L.) is widely distributed in Italy, where it is the ecologically dominant oak on sandy and acidic soil. In this work, we analysed 23 natural populations by means of eight SSR (microsatellite) markers, to obtain the first synthetic map of genetic variability for this species and to study its dispersion during the Holocene, due to the possibility that at least one refugium during the Last Glacial Maximum was in Italy. The analyses showed a good amount of genetic variability together with fair differentiation between populations, as indicated by FST = 0.059. A Bayesian analysis of the amount of admixture among populations revealed the presence of four putative gene pools of origin and a rough subdivision of the populations according to their geographic location, as confirmed by the spatial analysis. No evidence for the existence of putative refugial populations was found; however, this study paves the way for the planning of conservation strategies also with regard to the relationship between Turkey oak and other oak species in Italy
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