61 research outputs found

    Bee communities (Hymenoptera: Anthophila) of the "Cerrado" ecosystem in Sao Paulo State, Brazil

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    Five surveys of the bee communities in four "Cerrado" ecosystem reserves in Sao Paulo State were compared for species richness and similarity. These areas are fragment vegetation reser-reserves located in the Cerrado Corumbata Reserve (Corumbata), Jata Ecological Park (Luiz Antonio), Cajuru (Cajuru), and Vassununga State Park - ""Gleba de Cerrado de Pe-de-Gigante"" (Santa Rita do Passa Quatro). The methodology consisted of capturing bees foraging on flowers along transects, though with small differences between surveys. These ""cerrado"" areas have a large number of species of native bees, which are important pollinators in several Brazilian ecosystems. The community of bees varied among these different fragments. Based on 500 individuals (standardized by rarefaction), Cajuru, Corumbata 1 and Corumbata 2 were the areas with highest species richness, and Jata and Pe-de-Gigante had the lowest species richness in the bee communities. The bee faunas of Corumbata 2 and Pe-de-Gigante had the highest similarity, forming a group with the bee fauna of Cajuru. The bee faunas of Corumbata 1 and Jata were isolated from this group. We found that the bee species richness and similarity found in these ""cerrado"" areas cannot be explained by general factors such as the size of the fragment, the species richness of plants and the distance between the areas. Therefore, we suppose that local factors that differ among areas, such as interactions between populations, and competition and interference from surrounding areas influence and determine bee species richness and similarity in these reserves.FAPESP (Funda ao de Amparo a Pesquisa do Estado de Sao Paulo)[00/06405-2]CNP

    Fetal striatal grafting slows motor and cognitive decline of Huntington's disease

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    OBJECTIVE: To assess the clinical effect of caudate-putaminal transplantation of fetal striatal tissue in Huntington's disease (HD). METHODS: We carried out a follow-up study on 10 HD transplanted patients and 16 HD not-transplanted patients. All patients were evaluated with the Unified HD Rating Scale (UHDRS) whose change in motor, cognitive, behavioural and functional capacity total scores were considered as outcome measures. Grafted patients also received morphological and molecular neuroimaging. RESULTS: Patients were followed-up from disease onset for a total of 309.3 person-years (minimum 5.3, median 11.2 years, maximum 21.6 years). UHDRS scores have been available since 2004 (median time of 5.7 years since onset, minimum zero, maximum 17.2 years). Median post-transplantation follow-up was 4.3 years, minimum 2.8, maximum 5.1 years. Adjusted post-transplantation motor score deterioration rate was reduced compared to the pretransplantation period, and to that of not-transplanted patients by 0.9 unit/years (95% CI 0.2 to 1.6). Cognitive score deterioration was reduced of 2.7 unit/years (95% CI 0.1 to 5.3). For grafted patients the 2-year post-transplantation [(18)F]fluorodeoxyglucose positron emission tomography (PET) showed striatal/cortical metabolic increase compared to the presurgical evaluation; 4-year post-transplantation PET values were slightly decreased, but remained higher than preoperatively. [(123)I]iodobenzamide single photon emission CT demonstrated an increase in striatal D2-receptor density during postgrafting follow-up. CONCLUSIONS: Grafted patients experienced a milder clinical course with less pronounced motor/cognitive decline and associated brain metabolism improvement. Life-time follow-up may ultimately clarify whether transplantation permanently modifies the natural course of the disease, allowing longer sojourn time at less severe clinical stage, and improvement of overall survival

    Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

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    Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

    Reduction of emergency calls and hospitalizations for cardiac causes: Effects of covid-19 pandemic and lockdown in tuscany region

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    Introduction: Containment measures were established to flatten the curve of COVID-19 contagion in order to avoid a crash of the healthcare system. However, these measures influenced the rate of hospitalization of cardiac patients. In this study, we aimed to analyse the impact of COVID-19 and the effects of lockdown measures on hospital admissions and alerts of emergency medical system (EMS) for cardiac causes in the Tuscany region. Methods: An observational, retrospective analysis from Italian Tuscany region was conducted. We evaluated consecutive patients contacting EMS or admitted to the 39 Emergency Departments (EDs) in Tuscany for cardiac causes in the first trimester of 2020. Data were compared with the same period in 2018/19. Results: The alerts of EMS for cardiac causes significantly decrease in 2020 and the highest difference between 2018/19 and 2020 was found immediately after national lockdown (1 = −47.4%, p < 0.001). The number of admissions for chest pain in the EDs also decreased, with amaximumdifference of −67.6%(p < 0.001) vs. 2018/19. The number of hospital accesses for acute coronary syndromes, atrial fibrillation, and heart failure in the EDs significantly decreased in 2020 as compared to 2018/19 (maximum 1 = −58.9%, p < 0.001; maximum 1 = −63.0%, p < 0.001; maximum 1 = −72.7%, p < 0.001, respectively). Conclusions: A significant decrease in the contacts to EMS for cardiac causes and in cardiac diagnoses was observed during the first trimester of 2020. Fear of contagion has likely played a relevant role. The lesson learnt from first wave of COVID-19 pandemic suggests that appropriate public information strategies and re-education of people are essential

    Microsatellite instability as biomarker for risk of multiple primary malignancies of the upper aerodigestive tract

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    Head and neck cancer (HNC) patients are at high risk of developing second primary tumors of the upper aerodigestive tract and this is a chief cause of death. Genomic instability reflecting the propensity and the susceptibility of the genome to acquire multiple alterations is considered a driving force behind multiple carcinogenesis and the alterations of the length of single repetitive genomic sequences or microsatellite instability (MI), implicating impaired DNA repair mechanisms, and could be a sensitive marker for assessing genomic instability in multiple HNC. To investigate whether a genetic defect(s) involving the mismatch repair system constitutes a risk factor in patients with multiple head and neck cancer, we examined replication errors (RER) at 10 microsatellite loci in 21 primary and 5 second primary cancers in 21 patients with multiple malignancies of the upper aerodigestive tract, in comparison with match-paired primary HNC from patients without multiple malignancies. A RER+phenotype (alterations at â\u89¥2 loci) was observed at 10 microsatellite alterations on chromosomes 2, 3, 11, 17 in at least one tumor from 15 out of 21 (71.5%) patients with multiple primary cancers but only in 11 tumors from 40 (27.5%) HNC patients with single cancer (P=0.001). A RER+phenotype was also associated with a positive familial cancer history (P=0.046). Our results suggest that a genetic instability may play an important role in the pathogenesis of multiple primary cancers and that testing for MI in a primary HNC may be useful in detecting patients with high risk for developing multiple malignancies of the upper aerodigestive tract
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