Search results for "Disposition"
showing 10 items of 832 documents
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations
2019
The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules (translational read-through inducing drugs
Implementation of a Positive Technology Application in Patients With Eating Disorders: A Pilot Randomized Control Trial.
2018
Background: Positive psychological interventions (PPIs) have been suggested to produce benefits in patients with eating disorders (ED) by improving well-being, which might act as a buffer of the harmful effects caused by the disorder. Best Possible Self (BPS) is a PPI which consists of writing and envisioning a future where everything has turned out in the best possible way. In this regard, positive technology (PT) can be of considerable benefit as it allows to implement specific PPIs that have already shown efficacy. Objective: This study tested the preliminary efficacy of the BPS exercise implemented through a PT application and carried out for 1 month, in improving positive functioning m…
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review
2021
Takotsubo syndrome (TTS), recognized as stress’s cardiomyopathy, or as left ventricular apical balloon syndrome in recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by an interindividual heterogeneity in onset and progression, and by strong predominance in postmenopausal women. The clear causes of these TTS features are uncertain, given the limited understanding of this intriguing syndrome until now. However, the increasing frequency of TTS cases in recent years, and particularly correlated to the SARS-CoV-2 pandemic, leads us to the imperative necessity both of a complete knowledge of TTS pathophysiology for identifying bi…
Recherche des bases moléculaires des phénotypes extrêmes de cancer par séquençage d'exome
2019
Certains cancers peuvent être qualifiés de « phénotypes extrêmes ». Il s’agit soit de formes sporadiques particulièrement précoces, soit de formes familiales avec un excès de cancers dans une même branche parentale. La présence de plusieurs tumeurs primitives, de tumeurs bilatérales ou l'association de plusieurs cancers rares chez un même patient ou au sein d’une même famille, peut également entrer dans cette catégorie. Devant ces présentations, une prédisposition génétique est très fortement suspectée.L'analyse de panels de gènes connus pour être impliqués dans les formes mendéliennes de cancer est la pratique courante pour identifier la mutation responsable d'une prédisposition au cancer.…
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas
2021
Abstract Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization…
Mitochondrial D310 mutations in colorectal adenomas: an early but not causative genetic event during colorectal carcinogenesis.
2008
Somatic mutations of the D310 sequence of the mitochondrial DNA are reported in human cancers, including colorectal cancers (CRC). The presence of these mutations at early or late steps of colorectal carcinogenesis is unknown. Their prevalence increased significantly with the number of cytosines in the D310 sequence of the matched normal tissue (D310 polymorphism), suggesting that this polymorphism could be a risk factor for CRC. The aim of this study was (i) to investigate the prevalence of D310 mutations in 64 colorectal adenomas and 36 liver metastases from 15 CRC patients, (ii) to assess the relation between D310 polymorphism and the risk of colorectal adenoma in a case-control study in…
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
2020
BackgroundThe regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods f…
In vitro model for DNA double‐strand break repair analysis in breast cancer reveals cell type–specific associations with age and prognosis
2016
Dysfunction of homologous recombination is a common denominator of changes associated with breast cancer-predisposing mutations. In our previous work, we identified a functional signature in peripheral blood lymphocytes from women who were predisposed that indicated a shift from homologous recombination to alternative, error-prone DNA double-strand break (DSB) repair pathways. To capture both hereditary and nonhereditary factors, we newly established a protocol for isolation and ex vivo analysis of epithelial cells, epithelial-mesenchymal transition cells (EMTs), and fibroblasts from breast cancer specimens (147 patients). By applying a fluorescence-based test system, we analyzed the error-…
Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer
2017
International audience; Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular…
Development of a Brief Form of the Interpersonal Reactivity Index (B–IRI)
2016
ABSTRACTThe Interpersonal Reactivity Index (IRI) is a standardized self-report measure of disposition to empathic responsiveness for the general adult population (the domain for which it was developed), and for the general adolescent population. The IRI has a number of problems, however, including some uncertainty about its factor structure, low reliabilities, and poor readability of some items for people with limited literacy skills. To address these issues, we constructed an abbreviated form of the index, the Brief IRI (B–IRI). Three studies demonstrated that this 16-item B–IRI has a clear and coherent factor structure, adequate internal consistency, measurement invariance across gender a…