Search results for "domain"
showing 10 items of 2485 documents
Acceptability, attitudes and knowledge towards Transcranial Magnetic Stimulation (TMS) among psychiatrists in France
2020
Abstract Background Non-invasive brain stimulation techniques are becoming a part of psychiatrists’ therapeutic arsenal. Proof of TMS effectiveness and its indications are becoming clearer. While international recommendations exist, and many countries have already recognized the use of these techniques, the French situation is peculiar since no recommendation has been published by the High Authority of Health. Consequently, those techniques are not reimbursed by the healthcare service, few practitioners are trained, some are criticized for using it, and practices remain very heterogeneous. It is therefore important to investigate what slows down the development of these techniques. The obje…
Role of the pyrin M694V (A2080G) allele in acute myocardial infarction and longevity: a study in the Sicilian population
2006
Abstract A proinflammatory genotype seems to contribute significantly to the risk of developing coronary heart disease (CHD). Conversely, the susceptibility alleles to inflammatory disease should be infrequent in the genetic background favoring longevity. In fact, in a modern environment, attainment of longevity is facilitated by an anti-inflammatory status. To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean fever (FMF) may play an opposite role in CHD and in longevity, we examined three FMF-associated mutations, M694V (A2080G), M694I (G2082A), and V726A (T2177C), encoded by the FMF gene (MEFV) in 121 patients affected by acute myocardial infa…
The Fertility Quality of Life Questionnaire (FertiQoL) Relational subscale: psychometric properties and discriminant validity across gender.
2016
Study question Is the Fertility Quality of Life Questionnaire (FertiQoL)-Relational Scale a valid measure to assess the relational domain regarding quality of life in women and men undergoing infertility treatment? Summary answer The FertiQoL-Relational scale (FertiQoL-REL) showed good psychometric properties and captured core aspects of couple relationships. What is known already FertiQoL has become a gold standard for the assessment of infertility-related quality of life in patients undergoing assisted reproduction treatment (ART). Despite its growing importance, no previous studies have examined the convergent validity of the FertiQoL-REL and its discriminant validity across gender. Stud…
Being mindful at work and at home
2020
Although previous research on mindfulness predominantly focused on benefits of mindfulness, this study investigates quantitative and emotional demands as contextual antecedents of mindful awareness and acceptance both in the work and home domains. In addition, we examine goal attainment and satisfaction in the work and home domains as consequences of mindful awareness and acceptance. Results of a diary study across 5 workdays with 2 daily measurement occasions among 233 employees revealed that both in the work and home domains, quantitative demands were positively associated with awareness, but not with acceptance, whereas emotional demands were positively associated with acceptance, but no…
Extra-Adrenal Adult Neuroblastoma With Aberrant Germ Cell Marker Expression: Maturation After Chemotherapy as an Important Clue to a Challenging Diag…
2019
Adult neuroblastoma is an extremely infrequent neoplasm, usually occurring in the adrenal medulla or in the paraspinal sympathetic ganglia, as its childhood counterpart. We report a very unusual case of a Schwannian stroma-poor adult neuroblastoma of inguinal location, showing aberrant expression of germ cell markers: SALL4 and OCT4. This aberrant marker expression, the unusual positivity for NKX2.2 and the very scattered (instead of diffuse strong) PHOX2B expression, complicated the initial diagnosis. In this case, the posttreatment histological evaluation revealed the neuroblastic nature of the lesion. Neuroblastoma maturation after treatment is an unusual finding in adults, and in this …
Modeling the impact of soft tissue on axial transmission measurements of ultrasonic guided waves in human radius
2008
Recent in vitro and simulation studies have shown that guided waves measured at low ultrasound frequencies (f=200 kHz) can characterize both material properties and geometry of the cortical bone wall. In particular, a method for an accurate cortical thickness estimation from ultrasound velocity data has been presented. The clinical application remains, however, a challenge as the impact of a layer of soft tissue on top of the bone is not yet well established, and this layer is expected to affect the dispersion and relative intensities of guided modes. The present study is focused on the theoretical modeling of the impact of an overlying soft tissue. A semianalytical method and finite-differ…
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
2008
We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via th…
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
2018
Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …
Ten novel mutations found in Aniridia.
1998
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…
Type 1 Muscle Fiber Hypertrophy after Blood Flow–restricted Training in Powerlifters
2018
PURPOSE: To investigate the effects of blood flow restricted resistance exercise (BFRRE) on myofiber areas (MFA), number of myonuclei and satellite cells (SC), muscle size and strength in powerlifters. METHODS Seventeen national level powerlifters (25+/-6 yrs [mean+/-SD], 15 men) were randomly assigned to either a BFRRE group (n=9) performing two blocks (week 1 and 3) of five BFRRE front squat sessions within a 6.5-week training period, or a conventional training group (Con; n=8) performing front squats at ~70% of one-repetition maximum (1RM). The BFRRE consisted of four sets (first and last set to voluntary failure) at ~30% of 1RM. Muscle biopsies were obtained from m. vastus lateralis (VL…