17 research outputs found

    S. Doumbe-Bille, C. Migazzi, K. Neri, F. Paccaud, A. M. Smolinska, Droit international de l’environnement, coll. Masters droit, 1re éd., 2013

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    Jolivet Simon. S. Doumbe-Bille, C. Migazzi, K. Neri, F. Paccaud, A. M. Smolinska, Droit international de l’environnement, coll. Masters droit, 1re éd., 2013. In: Revue Juridique de l'Environnement, n°1, 2014. pp. 199-200

    A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

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    Background: Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, features of cerebellar dysfunction and pyramidal signs. Case presentation: Here we report the case of an Italian patient with late-onset, slowly progressive cerebellar features, including gait ataxia, scanning speech and ocular dysmetria and pyramidal tract signs. Whole exome sequencing revealed the rare heterozygous c.1024C > T (p.R342W) variant of TGM6, located at a highly evolutionary conserved position and predicted as pathogenic by in silico tools. Expression of TG6-R342W mutant in HEK293T cells led to a significant reduction of transamidase activity compared to wild-type TG6. Conclusion: This finding extends SCA35 genetic landscape, highlighting the importance of TGM6 screening in undiagnosed late-onset and slowly progressive cerebellar ataxias

    A Nutritional Approach to the Prevention of Cancer: from Assessment to Personalized Intervention

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    Among lifestyle factors, nutrition is one of the most important determinants of health, and represents a pivotal element of cancer risk. Nonetheless, epidemiological evidences of the relationship between several cancers and specific foods and nutrients is still inadequate, and solid conclusions are missing. Several epidemiological studies related increased consumption of high fat diet and the risk to develop different types of cancer. Indeed, caloric restriction without malnutrition is associated to cancer prevention, due to the reduction in the activity of pro-aging pathways, of inflammation in precancerous cells, and to the increase of the apoptosis of damaged cells. Food may be also the primary route of exposure to contaminants from multiple chemical classes such as metals, persistent organic pollutants, and pesticides. Exposure-disease associations and the interplay with genetic susceptibility requires further fundamental knowledge and studies on genetic variation, environment, lifestyle, and chronic disease, that are pivotal to provide insights into disease etiology at the population level, in order to eliminate and reduce associated health risks, that contributing to improve health outcomes for the population. A primary nutritional approach for Active and Healthy Ageing (AHA) has been developed by the Nutrition group of the European Innovation Partnership (EIP) on AHA that could prove effective also to sustainable cancer prevention strategies. A comprehensive approach to adequate nutrition is very important to public health, in order to identify and implement the best possible and fair strategies. The working group on lifestyles of the Italian Ministry of Health has been working in this direction. The group used a consensus methodology to collect and integrate the available evidences from the literature and from the Italian experiences at the regional level, to provide a framework aimed at raising the interest of other experts and relevant stakeholders to outline and scale-up joint strategies for a primary nutritional approach to cancer prevention

    Non-imported malaria in Italy: paradigmatic approaches and public health implications following an unusual cluster of cases in 2017

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    Background The European region achieved interruption of malaria transmission during the 1970s. Since then, malaria control programs were replaced by surveillance systems in order to prevent possible re-emergence of this disease. Sporadic cases of non-imported malaria were recorded in several European countries in the past decade and locally transmitted outbreaks of Plasmodium vivax, most probably supported by Anopheles sacharovi, have been repeatedly reported from Greece since 2009. The possibility of locally-transmitted malaria has been extensively studied in Italy where the former malaria vector An. labranchiae survived the control campaign which led to malaria elimination. In this study, we present paradigmatic cases that occurred during a 2017 unusual cluster, which caused strong concern in public opinion and were carefully investigated after the implementation of the updated malaria surveillance system. Methods For suspected locally-transmitted malaria cases, alerts to Ministry of Health (MoH) and the National Institute of Health (ISS) were mandated by the Local Health Services (LHS). Epidemiological investigations on the transmission modes and the identification of possible infection’s source were carried out by LHS, MoH and ISS. Entomological investigations were implemented locally for all suspected locally-transmitted cases that occurred in periods suitable to anopheline activity. Molecular diagnosis by nested-PCR for the five human Plasmodium species was performed to support microscopic diagnosis. In addition, genotyping of P. falciparum isolate was carried out to investigate putative sources of infection and transmission modalities. Results In 2017, a cluster of seven non-imported cases was recorded from August through October. Among them, P. ovale curtisi was responsible of one case whereas six cases were caused by P. falciparum. Two cases were proved to be nosocomial while the other five were recorded as cryptic at the end of epidemiological investigations. Conclusions The epidemiological evidence shows that the locally acquired events are sporadic, often remain unresolved and classified as cryptic ones despite investigative efforts. The “cluster” of seven non-imported cases that occurred in 2017 in different regions of Italy therefore represents a conscious alert that should lead us to maintain a constant level of surveillance in a former malaria endemic country

    A Nutritional Approach to the Prevention of Cancer: from Assessment to Personalized Intervention

    No full text
    Among lifestyle factors, nutrition is one of the most important determinants of health, and represents a pivotal element of cancer risk. Nonetheless, epidemiological evidences of the relationship between several cancers and specific foods and nutrients is still inadequate, and solid conclusions are missing. Indeed, caloric restriction without malnutrition is associated to cancer prevention. Food may be also the primary route of exposure to contaminants such as metals, persistent organic pollutants, and pesticides. Exposuredisease associations and the interplay with genetic susceptibility requires further studies on genetic variation, environment, lifestyle, and chronic disease in order to eliminate and reduce associated health risks, thus contributing to improve health outcomes for the population. A primary nutritional approach for Active and Healthy Ageing (AHA) has been developed by the Nutrition group of the European Innovation Partnership (EIP) on AHA. The working group on lifestyles of the Italian Ministry of Health has developed a comprehensive approach to adequate nutrition using a consensus methodology to collect and integrate the available evidences from the literature and from the Italian experiences at the regional level, to raise the interest of other experts and relevant stakeholders to outline and scale-up joint strategies for a primary nutritional approach to cancer prevention
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