58 research outputs found

    Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

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    Tuberous sclerosis complex (TSC) is caused by inactivating variants in TSC1 and TSC2. Somatic mosaicism, as well as the size and complexity of the TSC1 and TSC2 loci, makes variant identification challenging. Indeed, in some individuals with a clinical diagnosis of TSC, diagnostic testing fails to identify an inactivating variant. To improve TSC1 and TSC2 variant detection, we screened the TSC1 and TSC2 genomic regions using targeted HaloPlex custom capture and next-generation sequencing (NGS) in genomic DNA isolated from peripheral blood of individuals with definite, possible or suspected TSC in whom no disease-associated variant had been identified by previous diagnostic genetic testing. We obtained &gt;95% target region coverage at a read depth of 20 and &gt;50% coverage at a read depth of 300 and identified inactivating TSC1 or TSC2 variants in 83/155 individuals (54%); 65/113 (58%) with clinically definite TSC and 18/42 (43%) with possible or suspected TSC. These included 19 individuals with deep intronic variants and 54 likely cases of mosaicism (variant allele frequency 1-28%; median 7%). In 13 cases (8%), we identified a variant of uncertain significance (VUS). Targeted genomic NGS of TSC1 and TSC2 increases the yield of inactivating variants found in individuals with suspected TSC.</p

    Addressing climate change with behavioral science: a global intervention tournament in 63 countries

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    Effectively reducing climate change requires marked, global behavior change. However, it is unclear which strategies are most likely to motivate people to change their climate beliefs and behaviors. Here, we tested 11 expert-crowdsourced interventions on four climate mitigation outcomes: beliefs, policy support, information sharing intention, and an effortful tree-planting behavioral task. Across 59,440 participants from 63 countries, the interventions’ effectiveness was small, largely limited to nonclimate skeptics, and differed across outcomes: Beliefs were strengthened mostly by decreasing psychological distance (by 2.3%), policy support by writing a letter to a future-generation member (2.6%), information sharing by negative emotion induction (12.1%), and no intervention increased the more effortful behavior—several interventions even reduced tree planting. Last, the effects of each intervention differed depending on people’s initial climate beliefs. These findings suggest that the impact of behavioral climate interventions varies across audiences and target behaviors

    Addressing climate change with behavioral science:A global intervention tournament in 63 countries

    Get PDF
    Effectively reducing climate change requires marked, global behavior change. However, it is unclear which strategies are most likely to motivate people to change their climate beliefs and behaviors. Here, we tested 11 expert-crowdsourced interventions on four climate mitigation outcomes: beliefs, policy support, information sharing intention, and an effortful tree-planting behavioral task. Across 59,440 participants from 63 countries, the interventions' effectiveness was small, largely limited to nonclimate skeptics, and differed across outcomes: Beliefs were strengthened mostly by decreasing psychological distance (by 2.3%), policy support by writing a letter to a future-generation member (2.6%), information sharing by negative emotion induction (12.1%), and no intervention increased the more effortful behavior-several interventions even reduced tree planting. Last, the effects of each intervention differed depending on people's initial climate beliefs. These findings suggest that the impact of behavioral climate interventions varies across audiences and target behaviors.</p

    Addressing climate change with behavioral science:A global intervention tournament in 63 countries

    Get PDF

    Addressing climate change with behavioral science:A global intervention tournament in 63 countries

    Get PDF
    Effectively reducing climate change requires marked, global behavior change. However, it is unclear which strategies are most likely to motivate people to change their climate beliefs and behaviors. Here, we tested 11 expert-crowdsourced interventions on four climate mitigation outcomes: beliefs, policy support, information sharing intention, and an effortful tree-planting behavioral task. Across 59,440 participants from 63 countries, the interventions' effectiveness was small, largely limited to nonclimate skeptics, and differed across outcomes: Beliefs were strengthened mostly by decreasing psychological distance (by 2.3%), policy support by writing a letter to a future-generation member (2.6%), information sharing by negative emotion induction (12.1%), and no intervention increased the more effortful behavior-several interventions even reduced tree planting. Last, the effects of each intervention differed depending on people's initial climate beliefs. These findings suggest that the impact of behavioral climate interventions varies across audiences and target behaviors.</p

    Zoonoses in a global changes context: the case of Tick-borne encephalitis (TBE) virus in the Autonomous Province of Trento

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    Changes in climate, land use and biodiversity are considered among the most important anthropogenic factors affecting parasites-host interaction and wildlife zoonotic diseases emergence. Transmission of vector borne pathogens are particularly sensitive to these changes due to the complexity of their cycle. In general, reported cases of vector-borne infections have increased during the last 30 years in the northern hemisphere (Semenza and Suk, 2018) and in Europe, the most challenging infections include tick-borne transmitted diseases such as Lyme borreliosis (LB) and Tick-borne encephalitis (TBE) with an average number of 85.000 and 16.000 cases reported annually, respectively. Tick-borne Encephalitis (TBE) is a zoonosis of public health relevance in many European countries. It is a neurological zoonotic infection with various degrees of severity, which is transmitted by a tick directly with a bite or indirectly by consuming raw milk from infected hosts. In Italy, the incidence of TBE is relatively low and the occurrence of human cases is geographically restricted to the pre-alpine and alpine regions in the north-eastern part of the country. More studies are necessary to understand the complex factors that are involved in the maintenance and circulation of TBE. We present the current situation in the Province of Trento where the number of human cases increased and the endemic focus moved northward under the light of global changes

    VOLIP: a Corpus of Spoken Italian and a Virtuous Example of Reuse of Linguistic Resources

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    The corpus VoLIP (The Voice of LIP) is an Italian speech resource which associates the audio signals to the orthographic transcriptions of the LIP Corpus. The LIP Corpus was designed to represent diaphasic, diatopic and diamesic variation. The Corpus was collected in the early ‘ 90s to compile a frequency lexicon of spoken Italian and its size was tailored to produce a reliable frequency lexicon for the first 3,000 lemmas. Therefore, it consists of about 500,000 word tokens for 60 hours of recording. The speech materials belong to five different text registers and they were collected in fo ur different cities. Thanks to a modern technological approach VoLIP web service allows users to search the LIP corpus using IMDI metadata, lexical or morpho-syntactic entry keys, receiving as result the audio portions aligned to the corresponding required entry. The VoLIP corpus is freely available at the URL http://www.parlaritaliano.it
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