15 research outputs found

    C677T Methylenetetrahydrofolate Reductase Homozygosis and Vitamin Supplement in Migraineur Children

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    Purpose: Methylenetetrahydrofolate reductase (MTHFR) variant C677T has been associated with an increased genetic risk in migraine susceptibility. Individuals with the homozygous genotype show higher levels of plasma homocysteine (Hcy) [1,2,3]. Methods: Open-label study evaluating clinical trial was performed on 148 children migraineurs among 236 children suffering from headache, admitted to the Headache Regional Centre in l'Aquila (Italy)-Neuropsychiatric clinic, recruited and observed sequentially during the years 2015-2017. 31 patients (16,6% of all the sample) MTHFR homozygous were selected and underwent clinical evaluation of migraine characteristics (frequency, severity of pain and use of acute treatment) at baseline and after a 12 month-period of daily supplement of vitamins B9(2 mg), B6(25 mg), B12(400 mcg). In 20 patients with hyper Hcy (>95° percentile for age) the second collection of blood sample was obtained for Hcy assessment. Diagnosis of headache according to ICHD-III criteria. Statistical analysis is made by Wilcoxon test. Results: 20 children suffer from Migraine without aura (MwoA) and 11 from Migraine with aura (MA). 86% of children aged >10 years had significantly higher Hcy values compared with controls (p 95°percentile. In all the sample the vitamin supplementation was effective in producing significant reduction in Hcy levels (p=0.0001) and a significant improvement of migraine disability of frequency (p<0.0001), severity of pain (p<0.0003) and use of acute treatment (p<0.0001). Conclusions: The study results are encouraging and emphasize the importance of a comprehensive therapy in paediatric migraines

    Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

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    We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence data from the World Health Organization European Region available until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation, compare the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2

    "Objetividad científica" y sesgos en la toma de decisiones jurídicas: los casos de genética forense y de algoritmos (""Scientific objectivity" and biases in legal decision-making: the cases of forensic genetics and algorithms")

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    La "objetividad" y "neutralidad" de la ciencia pueden conducir a la discriminación y a la violación de derechos fundamentales de las personas. Para evitarlo, es necesario respetar algunos principios en el uso de la ciencia como base de decisiones de relevancia jurídica, como emerge en el caso de la genética forense y de la inteligencia artificial

    "Objetividad científica” y sesgos en la toma de decisiones jurídicas: los casos de genética forense y de algoritmos

    No full text
    La “objetividad” y “neutralidad” de la ciencia pueden conducir a la discriminación y a la violación de derechos fundamentales de las personas. Para evitarlo, es necesario respetar algunos principios en el uso de la ciencia como base de decisiones de relevancia jurídica, como emerge en el caso de la genética forense y de la inteligencia artificial

    Trace DNA Transfer in Co-Working Spaces: The Importance of Background DNA Analysis

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    The presence of background DNA (bgDNA) can hinder the evaluation of DNA evidence at the activity level, especially when the suspect is expected to be retrieved due to their habitual occupation of the investigated environment. Based on real-life casework circumstances, this study investigates the prevalence, composition, origin, and probable transfer routes of bgDNA found on personal items in situations where their owner and person of interest (POI) share the same workspace. Baseline values of bgDNA were evaluated on the participants’ personal items. Secondary and higher degree transfer scenarios of non-self DNA deposition were also investigated. The DNA from co-workers and co-inhabiting partners can be recovered from an individual’s personal belongings. Non-self DNA present on the hands and deposited on a sterile surface can generate uninformative profiles. The accumulation of foreign DNA on surfaces over time appears to be crucial for the recovery of comparable profiles, resulting in detectable further transfer onto other surfaces. For a thorough evaluation of touch DNA traces at the activity level, it is necessary to collect information not only about DNA transfer probabilities but also about the presence of the POI as part of the ‘baseline’ bgDNA of the substrates involved

    Forensic Age Estimation through a DNA Methylation-Based Age Prediction Model in the Italian Population: A Pilot Study

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    : DNA methylation is one of the epigenetic marks which has been studied intensively in recent years for age predicting purposes in the forensic area. In order to integrate age prediction into routine forensic workflow, the purpose of this study was to standardize and optimize a DNA methylation-based protocol tailored to the Italian context. A previously published protocol and age-predictive method was implemented for the analysis of 84 blood samples originating from Central Italy. The study here presented is based on the Single Base Extension method, considering five genes: ELOVL2, FHL2, KLF14, C1orf132, now identified as MIR29B2C, and TRIM59. The precise and specific steps consist of DNA extraction and quantification, bisulfite conversion, amplification of converted DNA, first purification, single base extension, second purification, capillary electrophoresis, and analysis of the results to train and test the tool. The prediction error obtained, expressed as mean absolute deviation, showed a value of 3.12 years in the training set and 3.01 years in the test set. Given that population-based differences in DNA methylation patterns have been previously reported in the literature, it would be useful to further improve the study implementing additional samples representative of the entire Italian population

    How to Assess the Headache—Sleep Disorders Comorbidity in Children and Adolescents

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    Sleep disorders and primary headaches are frequent health problems in childhood, and they are often comorbid in an individual, linked by a mutual and complex relationship. This comorbidity is frequent and well-documented, but the available literature is usually biased in favor of one aspect or another, mainly depending on the expertise of the authors. The aim of this paper is to review existing literature on the diagnostic assessment of comorbid primary headaches and sleep disorders, so as to propose practical suggestions to accurately investigate the presence of comorbid conditions in children evaluated for primary headaches or for sleep disorders
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