Search results for "Incident"
showing 10 items of 213 documents
Effects of natural radiation damage on back-scattered electron images of single crystals of minerals
2006
Generally, it has been assumed that signal intensity variations in back-scattered electron (BSE) images of minerals are mainly controlled by chemical heterogeneity. This is especially true for images of single crystals, where effects of different crystal orientations with respect to the incident beam on the observed BSE are excluded. In contrast, we show that local variations of the structural state within single-crystals (i.e., degree of lattice order or lattice imperfectness) may also have dramatic effects on the back-scattering of electrons. As an example, we present BSE images of single-crystals of natural zircon, ZrSiO 4 , whose intensity patterns are predominantly controlled by struct…
Incidental catch of loggerhead sea turtles (Caretta caretta) along the Sicilian coasts by longline fishery
2018
It has been estimated that 44,000 Caretta caretta turtles die every year due to anthropomorphic activity in the Mediterranean Sea, and that longline fishing is one of the most significant causes of mortality. A total of 482 specimens of C. caretta were rescued from different parts of the Sicilian coast (Mediterranean Sea) from 2014 to 2016. The most numerous stranding was recorded during the spring and summer seasons, mainly along the north and eastern coasts of Sicily. The curved carapace length for all the specimens ranged from between 19 and 95 cm and most of these were young or sub adults. The highest number of strandings was recorded in 2014 and 2015, with 206 and 169 individuals, resp…
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.
2020
Abstract With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing. Over 4 years, 2500 patients with an indication for genetic testing underwent a gene cancer panel. If an IF was detected, patients were contacted by a physician/genetic counsellor and invited to take part in a semi-structured interview to assess their understanding of the result, the change in medical care, the psychological impact, and the transmission of results to the f…
Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
2018
Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (rel…
Next-generation sequencing in clinical practice: from the patients' preferences to the informed consent process
2016
International audience
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error
2016
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…
2016
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
2019
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…
La preferencia de la vía civil a la penal para recobrar la posesión en las ocupaciones pacíficas de inmuebles.
2021
En el presente artículo se analizar los motivos por los que en las ocupaciones pacíficas de inmuebles sin consentimiento el recurso a la vía civil es más eficaz que la penal para la recuperación de la posesión. Dos son las causas por los que estimamos preferible la vía civil: la negativa de un sector de la judicatura para aplicar el delito de usurpación de inmuebles del art. 245.2 CP en los casos que no son graves y la no aplicación de la medida cautelar de devolución anticipada de los inmuebles ocupados a sus dueños. La vía civil es la más efectiva para la recuperación de la vivienda ocupada desde que se modificó el interdicto de recobrar la posesión mediante la Ley 5/2018.
FOCAL ACTIVE COLITIS AS A PREDICTOR OF INFLAMMATORY BOWEL DISEASE: RESULTS FROM A SINGLE-CENTER EXPERIENCE.
2017
The term focal active colitis (FAC) is conventionally used to describe the presence of isolated cryptitis, characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. To date, only four studies, including one conducted in a pediatric population, have been performed to evaluate the clinical significance of this disease. The aim of this retrospective study on prospectively-collected data is to evaluate the clinical implications of the focal active colitis, since there still remains …