325 research outputs found

    Examining Psychological Outcomes Associated with Genetic Testing for Primary Arrhythmic Disorders in Adult Patients

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    The psychological impact of genetic testing for an inherited arrhythmia and its influence on future well-being is highly variable and has not been well studied. Thirty-seven participants completed a survey which included questions from the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire, Impact of Events Scale (IES) and Satisfaction with Decision Scale (SWDS) to provide more information on their genetic testing experience and to allow the authors to search for trends that may improve the genetic counseling experience moving forward. Trends were seen upon the comparison of those who had positive versus negative genetic testing results. Those with positive test results seemed to have higher stress scores and experienced a greater psychological impact. While more investigation is needed, this study serves as a good starting point to understanding the experience of genetic testing for these individuals

    Ordinamento penitenziario e diritto intertemporale: punti fermi e prospettive

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    L’autore esamina la sentenza alla luce della precedente pronuncia della Corte cost. n. 32/2020 in materia di successione di leggi nel tempo e diritto penitenziario. Descritto il cambio di rotta che tali pronunce hanno impresso, delinea le possibili evoluzioni dei principi enunciati.The author examines the statement in light of the previous decision of the constitutional Court ruling on the succession of laws over time and penitentiary law. After this description, he tries to outlines the possible evolution of the principles enunciated

    Cuauhtémoc Medina: “El arte contemporáneo es un objeto paradójico”

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    Sobre: Crítico, curador e historiador del arte, el mexicano presentó en Argentina sus producciones curatoriales más actuales: la exposición del grupo indio RAQS, muestra que ya ha pasado por España y México (donde Medina es además curador del Museo de Arte Contemporáneo) y Relato de una negociación, del artista belga Francis Alÿs, que fue expuesta en el Malba. AC aprovechó su paso por Buenos Aires para conversar sobre arte contemporáneo y curaduría

    Bulging anterior fontanelle and dense bones in an infant.

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    A 3-month-old term nonconsanguineous female infant was found to have a bulging anterior fontanelle at her 2-month visit. Two weeks later upon presenting to the emergency room with a viral illness, investigations showed hypophosphatemia 0.49 mmol/L (1.3 to 2.6 mmol/L), normocalcemia 2.65 mmol/L (2.24 to 2.74 mmol/L), and parathyroid hormone (PTH) \u3c0.3 pmol/L (1.6 to 6.9 pmol/L). Workup for hypophosphatemia including head and renal ultrasounds was unremarkable. X-rays showed flaring of metaphyses in femurs, tibiae, and fibulae, and she was started on phosphate (3 mmol 4 times a day) and vitamin D (Calcitriol equivalent to 1,000 IU daily) for presumed congenital rickets

    Bioinformatic identification of a putative microRNA-transcription factor network motif in the regulation of laccase genes in peach (Prunus persica)

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    Laccase proteins are multicopper glycoprotein oxidases expressed in plant tissues under biotic and abiotic stress conditions. They are able to catalyze oxidation of a broad range of substrates including phenols and amines. The regulation of expression of such genes is crucial for proper reaction to stress. At the DNA level, this modulation is mediated by the recruitment of specific transcription factors (TF) to suitable transcription factor binding sites (TFBS), usually located upstream of a gene. At the RNA level, the short microRNAs molecules (miRs) interfere with the translation of target proteins through base‐pairing with messenger RNAs. Complex regulatory circuits combining those interactions fine‐tune protein expression and enhance plant responses to environmental change. In this case study we performed a phylogenetic analysis of peach laccases and characterized specific peach miRs (miR397a and miR408), reported previously as posttranscriptional regulatory elemen ts of laccase genes. Using a bioinformatic approach we identified unique TFBS for abscisic acid (ABA) response elements in promoter regions of both miR and laccase genes. The signaling molecule ABA plays a major role in plant responses to stress. We propose a feed‐forward loop motif in the stress response network involving ABA action in peach by integrating the TF‐mediated regulation of miR and laccase genes at the transcriptional level with the miR regulation of laccase target genes at the post‐transcriptional level

    Inutilizzabilità delle prove e delitto di tortura nel sistema processuale italiano = Evidence’s prohibition on use and incrimination of torture in the Italian criminal procedure

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    - DOI: https://doi.org/10.22197/rbdpp.v7i1.508Examina o novo caso de inutilização introduzido no Código de Processo Penal italiano ao mesmo tempo em que a inclusão no Código Penal dá disposição que incrimina a tortura

    Inutilizzabilità delle prove e delitto di tortura nel sistema processuale italiano

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    The Authors examine the prohibition on use newly introduced in the criminal procedure code along with the new incrimination of torture's conduct, introduced in the penal code. After having summarized the normative origins and the crime's outlines, Authors deal with its processual issues in order to draw attention about a particularly complex and debated problem: the consequences of the prohibition on use on a deed performed breaking the prohibition, and its consequences on other logically or juridically connected deeds (in particular, on evidences gathered in a trial corrupted by torture acts).Gli autori esaminano la nuova fattispecie di inutilizzabilità introdotta nel codice di procedura penale italiano contestualmente all’inserimento nel codice penale della previsione che incrimina la tortura. Dopo aver tratteggiato le origini della disciplina e i connotati dell’illecito, affrontano le questioni di carattere processuale per rivolgere l’attenzione su un tema particolarmente complesso e dibattuto che attiene alle conseguenze che l’inutilizzabilità può produrre non soltanto sull’atto compiuto in violazione di un divieto, ma anche sugli altri atti ad esso collegati e, in particolare, sulle prove raccolte nel processo inquinato da condotte di tortura

    A Survey of MicroRNA Length Variants Contributing to miRNome Complexity in Peach (Prunus Persica L.)

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    MicroRNAs (miRNAs) are short non-coding RNA molecules produced from hairpin structures and involved in gene expression regulation with major roles in plant development and stress response. Although each annotated miRNA in miRBase (www.mirbase.org) is a single defined sequence with no further details on possible variable sequence length, isomiRs – namely the population of variants of miRNAs coming from the same precursors – have been identified in several species and could represent a way of broadening the regulatory network of the cell. Next-gen-based sequencing makes it possible to comprehensively and accurately assess the entire miRNA repertoire including isomiRs. The aim of this work was to survey the complexity of the peach miRNome by carrying out Illumina high-throughput sequencing of miRNAs in three replicates of five biological samples arising from a set of different peach organs and/or phenological stages. Three hundred-ninety-two isomiRs (miRNA and miRNA*-related) corresponding to 26 putative miRNA coding loci, have been highlighted by mirDeep-P and analyzed. The presence of the same isomiRs in different biological replicates of a sample and in different tissues demonstrates that the generation of most of the detected isomiRs is not random. The degree of mature sequence heterogeneity is very different for each individual locus. Results obtained in the present work can thus contribute to a deeper view of the miRNome complexity and to better explore the mechanism of action of these tiny regulators
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