8 research outputs found

    Looking for Nano- and Microplastics in Meiofauna Using Advanced Methodologies

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    : Meiofauna (body size within 30–1000 ”m) are the community of microscopic invertebrates that live at the bottom of marine and freshwater ecosystems and play a key role in the food webs of these environments. Several studies have addressed the adverse effects of anthropic stressors on meiofauna; however, data on the presence and impact of plastic debris in wild meiofaunal organisms are scant. Since the amount of microplastic waste in sediments may surge rapidly, ascertaining the ingestion of these xenobiotics by the abundant micrometazoan community is necessary to understand their potential accumulation in aquatic food webs and their hazard to the health of the ecosystem. The absence of documentation in this regard may be due to the difficulty in detecting the small size of the plastic fragments meiofauna may potentially ingest. To overcome this difficulty, we developed an integrated approach based on different microscopic/spectroscopic techniques suitable for detecting plastic particles of sizes down to 200 nm.Meiofauna (body size within 30–1000 m) are the community of microscopic invertebrates that live at the bottom of marine and freshwater ecosystems and play a key role in the food webs of these environments. Several studies have addressed the adverse effects of anthropic stressors on meiofauna; however, data on the presence and impact of plastic debris in wild meiofaunal organisms are scant. Since the amount of microplastic waste in sediments may surge rapidly, ascertaining the ingestion of these xenobiotics by the abundant micrometazoan community is necessary to understand their potential accumulation in aquatic food webs and their hazard to the health of the ecosystem. The absence of documentation in this regard may be due to the difficulty in detecting the small size of the plastic fragments meiofauna may potentially ingest. To overcome this difficulty, we developed an integrated approach based on different microscopic/spectroscopic techniques suitable for detecting plastic particles of sizes down to 200 nm

    Combined effect of temperature and a reference toxicant (KCl) on Daphnia middendorffiana (Crustacea, Daphniidae) in a high-mountain lake

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    Climate change has direct effects on aquatic systems where increased water temperature leads to range shifts and changes in the distribution of aquatic organisms. The effects of climate change on aquatic ecosystems are expected in all biomes, and in Alpine environments in particular. Anthropogenic pressure (e.g., chemical pollution) besides climate change impact on the state and quality of aquatic systems in which climate change and environmental contaminants can interact. To better understand the effect of increases in temperature and environmental pollution on high-mountain lakes, we performed an ecotoxicological assay on Daphnia middendorffiana collected during summer 2021 in a high-mountain lake (Upper Balma Lake, Cottian Alps, 2212 m a.s.L.). Samples were exposed to two temperature values (15 °C and 20 °C), potassium chloride (KCl) as the reference toxicant, and D. magna as the model organism for comparison. Findings showed immobilization after exposure to KCl in both species, but exposure to non-optimal water temperature (20 °C and 15 °C for D. middendorffiana and D. magna, respectively) enhanced this effect. The mean half-maximal effective concentration (EC50; 24 h) for D. middendorffiana was significantly lower than that recorded for D. magna exposed to 20 °C (KCl) (46.9 mg/L vs 255 mg/L). A significantly higher EC50 (273.4 mg/L; 24 h) was recorded for D. middendorffiana exposed to 15 °C (KCl) compared to D. magna (EC50 50.6 mg/L; 24 h). Our findings suggest that the combined effects of temperature and chemical pollution may severely affect the occurrence of D. middendorffiana, which occupies a central position in the food webs of high-mountain lakes in the Alps.This study was partly funded by Fondazione CRT “Richieste Ordinarie” Project ALPLA II (21D03).Peer reviewe

    Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.

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    Optimization of adsorptive removal of α-toluic acid by CaO2 nanoparticles using response surface methodology

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    The present work addresses the optimization of process parameters for adsorptive removal of α-toluic acid by calcium peroxide (CaO2) nanoparticles using response surface methodology (RSM). CaO2 nanoparticles were synthesized by chemical precipitation method and confirmed by Transmission electron microscopy (TEM) and high-resolution TEM (HRTEM) analysis which shows the CaO2 nanoparticles size range of 5–15 nm. A series of batch adsorption experiments were performed using CaO2 nanoparticles to remove α-toluic acid from the aqueous solution. Further, an experimental based central composite design (CCD) was developed to study the interactive effect of CaO2 adsorbent dosage, initial concentration of α-toluic acid, and contact time on α-toluic acid removal efficiency (response) and optimization of the process. Analysis of variance (ANOVA) was performed to determine the significance of the individual and the interactive effects of variables on the response. The model predicted response showed a good agreement with the experimental response, and the coefficient of determination, (R2) was 0.92. Among the variables, the interactive effect of adsorbent dosage and the initial α-toluic acid concentration was found to have more influence on the response than the contact time. Numerical optimization of process by RSM showed the optimal adsorbent dosage, initial concentration of α-toluic acid, and contact time as 0.03 g, 7.06 g/L, and 34 min respectively. The predicted removal efficiency was 99.50%. The experiments performed under these conditions showed α-toluic acid removal efficiency up to 98.05%, which confirmed the adequacy of the model prediction

    Cognitive decline in Huntington's disease expansion gene carriers

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    Clinical manifestations of intermediate allele carriers in Huntington disease

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    Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589

    Clinical and genetic characteristics of late-onset Huntington's disease

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    Background: The frequency of late-onset Huntington's disease (&gt;59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≀35 or a UHDRS motor score of ≀5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P &lt;.001). Overall motor and cognitive performance (P &lt;.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P &lt;.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P &lt;.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P &lt;.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients

    Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

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    Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis
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