7,320 research outputs found

    PINK1/Parkin Mediated Mitophagy, Ca2+ Signalling, and ER-Mitochondria Contacts in Parkinson's Disease

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    Endoplasmic reticulum (ER)-mitochondria contact sites are critical structures for cellular function. They are implicated in a plethora of cellular processes, including Ca2+ signalling and mitophagy, the selective degradation of damaged mitochondria. Phosphatase and tensin homolog (PTEN)-induced kinase (PINK) and Parkin proteins, whose mutations are associated with familial forms of Parkinson's disease, are two of the best characterized mitophagy players. They accumulate at ER-mitochondria contact sites and modulate organelles crosstalk. Alterations in ER-mitochondria tethering are a common hallmark of many neurodegenerative diseases including Parkinson's disease. Here, we summarize the current knowledge on the involvement of PINK1 and Parkin at the ER-mitochondria contact sites and their role in the modulation of Ca2+ signalling and mitophagy

    Temperature and precipitation seasonal forecasts over the Mediterranean region: added value compared to simple forecasting methods

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    This study considers a set of state-of-the-art seasonal forecasting systems (ECMWF, MF, UKMO, CMCC, DWD and the corresponding multi-model ensemble) and quantifies their added value (if any) in predicting seasonal and monthly temperature and precipitation anomalies over the Mediterranean region compared to a simple forecasting method based on the ERA5 climatology (CTRL) or the persistence of the ERA5 anomaly (PERS). This analysis considers two starting dates, May 1st and November 1st and the forecasts at lead times up to 6 months for each year in the period 1993–2014. Both deterministic and probabilistic metrics are employed to derive comprehensive information on the forecast quality in terms of association, reliability/resolution, discrimination, accuracy and sharpness. We find that temperature anomalies are better reproduced than precipitation anomalies with varying spatial patterns across different forecast systems. The Multi-Model Ensemble (MME) shows the best agreement in terms of anomaly correlation with ERA5 precipitation, while PERS provides the best results in terms of anomaly correlation with ERA5 temperature. Individual forecast systems and MME outperform CTRL in terms of accuracy of tercile-based forecasts up to lead time 5 months and in terms of discrimination up to lead time 2 months. All seasonal forecast systems also outperform elementary forecasts based on persistence in terms of accuracy and sharpness

    Parent and self-report health-related quality of life measures in young patients with Tourette syndrome

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    Tourette syndrome is a neurodevelopmental disorder characterized by tics and comorbid behavioral problems. This study compared child- and parent-reported quality of life and everyday functioning. We assessed 75 children with Tourette syndrome, of which 42 (56%) had comorbid conditions (obsessive-compulsive disorder = 25; attention-deficit hyperactivity disorder = 6; both comorbidities = 4). All patients completed psychometric instruments, including the Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (child report) and the Child Tourette's Syndrome Impairment Scale (parent report). Data were compared for patients with pure Tourette syndrome, Tourette syndrome + obsessive-compulsive disorder, Tourette syndrome + attention-deficit hyperactivity disorder, and Tourette syndrome + both comorbidities. There were no group differences in quality of life. However, there were differences for total, school, and home activities impairment scores. Children and parents may not share similar views about the impact of Tourette syndrome on functioning. The measurement of health-related quality of life in Tourette syndrome is more complex in children than adults

    Archaeogenetics and landscape dynamics in sicily during the holocene: A review

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    The Mediterranean islands and their population history are of considerable importance to the interpretation of the population history of Europe as a whole. In this context, Sicily, because of its geographic position, represents a bridge between Africa, the Near East, and Europe that led to the stratification of settlements and admixture events. The genetic analysis of extant and ancient human samples has tried to reconstruct the population dynamics associated with the cultural and demographic changes that took place during the prehistory and history of Sicily. In turn, genetic, demographic and cultural changes need to be understood in the context of the environmental changes that took place over the Holocene. Based on this framework, this paper aims to discuss the cultural and demographic dimension of the island by reviewing archaeogenetic studies, and lastly, we discuss the ecological constraints related to human peopling in times of change in landscapes that occurred on the island in various periods. Finally, possible directions for future archaeogenetic studies of Sicily are discussed. Despite its long human history, Sicily is still one of the world’s biodiversity hotspots. The lessons we learn from the past use of landscape provide models for sustainable future management of the Mediterranean’s landscapes

    Whiting (Merlangius merlangus) Grows Slower and Smaller in the Adriatic Sea: New Insights from a Comparison of Two Populations with a Time Interval of 30 Years

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    Nowadays, overexploitation and climate change are among the major threats to fish production all over the world. In this study, we focused our attention on the Adriatic Sea (AS), a shallow semi-enclosed sub-basin showing the highest exploitation level and warming trend over the last decades within the Mediterranean Sea. We investigated the life history traits and population dynamics of the cold-water species whiting (Merlangius merlangus, Gadidae) 30 years apart, which is one of the main commercial species in the Northern AS. The AS represents its southern limit of distribution, in accordance with the thermal preference of this cold-water species. Fish samples were collected monthly using a commercial bottom trawl within the periods 1990–1991 and 2020–2021. The historical comparison highlighted a recent reduction in large specimens (>25 cm total length, TL), which was not associated with trunked age structures, therefore indicating a decrease in growth performance over a period of 30 years (L∞90–91 = 29.5 cm TL; L∞20–21 = 22.8 cm TL). The current size at first sexual maturity was achieved within the first year of life, at around 16 cm TL for males and 17 cm TL for females. In the AS, whiting spawns in batches from December to March, showing a reproductive investment (gonadosomatic index) one order of magnitude higher in females than in males. Potential fecundity (F) ranged from 46,144 to 424,298, with it being heavily dependent on fish size. We hypothesize that the decreased growth performance might be related to a metabolic constraint, possibly related to the increased temperature and its consequences. Moreover, considering the detrimental effects of size reduction on reproductive potential, these findings suggest a potential endangerment situation for the long-term maintenance of whiting and cold-related species in the AS, which should be accounted for in setting management strategies

    Convenio tripartito entre la Universidad, la Dirección Penal Juvenil y la Secretaría de recursos hídricos en salta experiencias en transferencia y producción de tecnología.

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    Se presentan las tareas realizadas que condujeron a la concreción de un convenio entre tres partes institucionales de la Provincia de Salta. El objetivo principal fue la transferencia y producción de tecnología sencilla para la cocción solar y de cocinas a leña optimizadas, con jóvenes alojados en dispositivos dependientes de la Dirección General de Justicia Penal Juvenil, a fin de satisfacer necesidades de personas originarias de la margen salteña del río Pilcomayo.Fil: Passamai, Victor Jose. Consejo Nacional de Invest.cientif.y Tecnicas. Centro Cientifico Tecnol.conicet - Salta. Instituto de Invest.en Energia No Convencional; Argentina;Fil: Fernández, S.. Ministerio de Infraestructura y Vivienda Serv.pub.. Secretaria de Obras Publicas. Subsecretaria de Recursos Hidricos; Salta; Argentina;Fil: Cali, S.. Ministerio de Infraestructura y Vivienda Serv.pub.. Secretaria de Obras Publicas. Subsecretaria de Recursos Hidricos; Salta; Argentina;Fil: Agüero, M.. Dirección Penal Juvenil. Salta; Argentina;Fil: Teruel, F.. Dirección Penal Juvenil. Salta; Argentina

    Sensory-Adapted Dental Environment for the Treatment of Patients with Autism Spectrum Disorder

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    Purpose: The importance of dental care and oral hygiene is often underestimated in people with autism spectrum disorder (ASD). Comorbidity with dental anxiety is greater in ASD subjects who also show unusual reactions to sensory stimuli. The aim of our study was to assess the efficacy for a sensory-adapted environment and targeted methods in reducing anxiety and positively influencing cooperation in children with ASD during a dental examination or specific treatments. Material and methods: The sample consisted of 50 Italian children with a diagnosis of ASD (36 males and 14 females; aged 9–10 years) presenting with mild intellectual disability (ID) and verbal language skills. The subjects enrolled in the study had at least two decayed teeth and all were treated in two different dental environments: regular dental environment (RDE) and sensory-adapted dental environment (SADE). Results: 20% of the sample was successfully treated in RDE, while 68% of subjects were successfully treated in SADE. Conclusions: Results suggest that a sensory-adapted environment positively affects the therapeutic dental treatment in patients with ASD and reaffirm that sensory dysregulation in children with ASD is a crucial factor influencing the successful outcome of oral care

    Implementation of sample pooling procedure using a rapid sars-cov-2 diagnostic real-time pcr test performed prior to hospital admission of people with intellectual disabilities

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    Reliability, accuracy, and timeliness of diagnostic testing for SARS-CoV-2 infection have allowed adequate public health management of the disease, thus notably helping the timely mapping of viral spread within the community. Furthermore, the most vulnerable populations, such as people with intellectual disability and dementia, represent a high-risk group across multiple dimensions, including a higher prevalence of pre-existing conditions, lower health maintenance, and a propensity for rapid community spread. This led to an urgent need for reliable in-house rapid testing to be performed prior to hospital admission. In the present study, we describe a pooling procedure in which oropharyngeal and nasopharyngeal swabs for SARS-CoV-2 detection (performed prior to hospital admission using rapid RT-PCR assay) are pooled together at the time of sample collection. Sample pooling (groups of 2–4 samples per tube) allowed us to significantly reduce response times, consumables, and personnel costs while maintaining the same test sensitivity

    Evaluation of perioperative complications using a newly described staging system for placenta accreta spectrum

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    Introduction: The antenatal diagnosis of placenta accreta spectrum (PAS) is in large part subjective and based on expert interpretation. The aim of this study was to externally evaluate a recently developed staging system based on specific and defined prenatal ultrasound (US) features in a cohort of women at risk of PAS undergoing specialist prenatal US, in particular relating to surgical morbidity at delivery. Materials and methods: Database study of cases with confirmed placenta previa. In all, the placenta was evaluated in a systematic fashion. PAS was subclassified in PAS0-PAS3 according to the loss of clear zone, placental lacunae, bladder wall interruption, uterovesical hypervascularity and increased vascularity in the parametrial region. Results: 43 cases were included, of whom 33 had major placenta previa. 31 cases were categorized as PAS0; 3, 4 and 5 cases as PAS1, PAS2 and PAS3, respectively. All women underwent caesarean section and hysterectomy was required in 10. The comparison of the perinatal outcomes among the PAS categories yielded greater operative time (50 (35–129) minutes for PAS0 vs 70 (48–120) for PAS1 vs 95 (60–150) for PAS2 vs 100 (87–180) for PAS3, p < 0.001) and estimated blood loss (800 (500–2500) mls for PAS0 vs 3500 (800–7500) for PAS1 vs 2850 (500–7500) for PAS2 vs 6000 (2500–11000) for PAS3, p < 0.001) for the highest PAS categories, which were also associated with a higher rate of hysterectomy (p < 0.001), blood transfusion (p = 0.002) and admission to ITU or HDU (p < 0.001) and longer postoperative admission of 3 (1–9) days for PAS0 vs 3 (2–12) for PAS1 vs 4.5 (3–6) for PAS2 vs 5 (3–22) for PAS3, p = 0.02. Conclusion: Perioperative complications are closely associated with PAS stage. This information is useful for counselling women and may be important in allocating staff and infrastructure resources at the time of delivery

    Energy efficiency measures for buildings in Hebron city and their expected impacts in the distribution grid

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    Theenergye ffi ciencyinbuildingscouldrepresentoneofthemainopportunity,withinawidestrategicscenario,toachieveenergy independenceofPalestine.Infact,thereductionofbuildingenergydemandduetotheimplementationofenergye ffi ciency measuresleadstoaconsequentdecreaseoftheenergyprovisionneeds.Forthisreasonananalysisofthepotentialreduction oftheenergyconsumptioninbuildingneedtobeperformedandapossibleestimationofcostsshouldbeidentifiedfordefining aenergystrategicplanofPalestine.Thispaperintendstohighlightthepotentialoftheenergye ffi ciencymeasuresindi ff erent buildingtypologiesofHebroncityinPalestineandtheirimpactintheelectricaldistributiongrid.Thee ff ectivenessofthedi ff erent measuresareestimatedbymeansofsoftwaresimulationsandtheiroptimalcombinationisalsoidentifiedinordertomaximize thereductionofenergydemands.Finally,thevariationofpowerlossesinthedistributiongridduetotheretrofitactionanda preliminaryestimationofpossibleeconomice ff ortfortheimplementationoftheproposedactionsarealsoexpose
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