657 research outputs found
Low temperature scattering with the R-matrix method: the Morse potential
Experiments are starting to probe collisions and chemical reactions between
atoms and molecules at ultra-low temperatures. We have developed a new
theoretical procedure for studying these collisions using the R-matrix method.
Here this method is tested for the atom -- atom collisions described by a Morse
potential. Analytic solutions for continuum states of the Morse potential are
derived and compared with numerical results computed using an R-matrix method
where the inner region wavefunctions are obtained using a standard nuclear
motion algorithm. Results are given for eigenphases and scattering lengths.
Excellent agreement is obtained in all cases. Progress in developing a general
procedure for treating ultra-low energy reactive and non-reactive collisions is
discussed.Comment: 18 pages, 6 figures, 3 tables, conferenc
Silent polymorphisms in the RYR1 gene do not\ud modify the phenotype of the p.4898 I>T\ud pathogenic mutation in central core disease:\ud a case report
Background: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in\ud
muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay. The disease is\ud
caused by mutations in the human ryanodine receptor gene (RYR1), which encodes a calcium-release channel.\ud
Since the RYR1 gene is huge, containing 106 exons, mutation screening has been limited to three ‘hot spots’, with\ud
particular attention to the C-terminal region. Recent next- generation sequencing methods are now identifying\ud
multiple numbers of variants in patients, in which interpretation and phenotype prevision is difficult.\ud
Case presentation: In a Brazilian Caucasian family, clinical, histopathological and molecular analysis identified a\ud
new case of central core disease in a 48-year female. Sanger sequencing of the C-terminal region of the RYR1\ud
gene identified two different missense mutations: c.14256 A > C polymorphism in exon 98 and c.14693 T > C in\ud
exon 102, which have already been described as pathogenic. Trans-position of the 2 mutations was confirmed\ud
because patient’s daughter, mother and sister carried only the exon 98’s mutation, a synonymous variant that was\ud
subsequently found in the frequency of 013–0,05 of alleles. Further next generation sequencing study of the whole\ud
RYR1 gene in the patient revealed the presence of additional 5 common silent polymorphisms in homozygosis and\ud
8 polymorphisms in heterozygosis.\ud
Conclusions: Considering that patient’s relatives showed no pathologic phenotype, and the phenotype presented\ud
by the patient is within the range observed in other central core disease patients with the same mutation, it was\ud
concluded that the c.14256 A > C polymorphism alone is not responsible for disease, and the associated additional\ud
silent polymorphisms are not acting as modifiers of the primary pathogenic mutation in the affected patient. The\ud
case described above illustrates the present reality where new methods for wide genome screening are becoming\ud
more accessible and able to identify a great variety of mutations and polymorphisms of unknown function in\ud
patients and their families.Fundação de Amparo a Pesquisa do Estado de São Paulo - Centro de Pesquisa, Inovação e Difusão (FAPESP-CEPID)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq-INCT)Associação Brasileira de Distrofia Muscular (ABDIM)CAPES-COFECU
Assessing the carcinogenic potential of low-dose exposures to chemical mixtures in the environment: the challenge ahead.
Lifestyle factors are responsible for a considerable portion of cancer incidence worldwide, but credible estimates from the World Health Organization and the International Agency for Research on Cancer (IARC) suggest that the fraction of cancers attributable to toxic environmental exposures is between 7% and 19%. To explore the hypothesis that low-dose exposures to mixtures of chemicals in the environment may be combining to contribute to environmental carcinogenesis, we reviewed 11 hallmark phenotypes of cancer, multiple priority target sites for disruption in each area and prototypical chemical disruptors for all targets, this included dose-response characterizations, evidence of low-dose effects and cross-hallmark effects for all targets and chemicals. In total, 85 examples of chemicals were reviewed for actions on key pathways/mechanisms related to carcinogenesis. Only 15% (13/85) were found to have evidence of a dose-response threshold, whereas 59% (50/85) exerted low-dose effects. No dose-response information was found for the remaining 26% (22/85). Our analysis suggests that the cumulative effects of individual (non-carcinogenic) chemicals acting on different pathways, and a variety of related systems, organs, tissues and cells could plausibly conspire to produce carcinogenic synergies. Additional basic research on carcinogenesis and research focused on low-dose effects of chemical mixtures needs to be rigorously pursued before the merits of this hypothesis can be further advanced. However, the structure of the World Health Organization International Programme on Chemical Safety 'Mode of Action' framework should be revisited as it has inherent weaknesses that are not fully aligned with our current understanding of cancer biology
Broadband velocity modulation spectroscopy of HfF^+: towards a measurement of the electron electric dipole moment
Precision spectroscopy of trapped HfF^+ will be used in a search for the
permanent electric dipole moment of the electron (eEDM). While this dipole
moment has yet to be observed, various extensions to the standard model of
particle physics (such as supersymmetry) predict values that are close to the
current limit. We present extensive survey spectroscopy of 19 bands covering
nearly 5000 cm^(-1) using both frequency-comb and single-frequency laser
velocity-modulation spectroscopy. We obtain high-precision rovibrational
constants for eight electronic states including those that will be necessary
for state preparation and readout in an actual eEDM experiment.Comment: 13 pages, 7 figures, 3 table
Navigating Role Models : Shaping Masculine Identity Among Transmasculine and Cisgender Emerging Adults
Introduction: The present study explores the influence of role models on the development of masculinity among emerging adults, specifically focusing on how Italian transgender and cisgender young men draw inspiration from role models to shape their own identities. Methods: We conducted six focus groups with 16 trans masculine and 15 cisgender emerging adults. We transcribed and analyzed the discussions using a specific qualitative analysis framework for focus groups. Results: Both groups identified family members and individuals from the entertainment industry as sources of inspiration for masculinity. Cisgender participants mentioned more role models from the sport industry, whereas trans participants mentioned more social media influencers. Cisgender participants also identified role models embodying traditional masculinity traits, whereas both groups created “anti-models” representing characteristics they rejected in their ideals of masculinity. Conclusions: The study reveals differences in the sources of inspiration and the construction of masculine identities between the two groups. We suggest integrating Todd et al.’s (2022) model for the evolution of transgender masculine identities, taking into account the subtle distinctions rooted in gender socialization and identity. Policy Implications: This work has relevant implications for policy makers, especially in the field of education and social sciences. Educational training targeted at emerging adults should promote a healthy approach to masculinity and should be built in awareness of what are the current models and anti-models
Clinical forensic medicine in emergency departments: a pilot study of a forensic training and evaluation of its effectiveness in an Italian hospital
Because emergency departments are often the first point of contact for victims of violence, it is critical to provide the appropriate treatment in compliance with all necessary medicolegal precautions. For this reason, a randomized controlled trial was conducted at the Policlinico Hospital of Milan (Italy) in which an intervention group (12 physicians) received a 6-h course on clinical forensic medicine and their performance in medicolegal procedures in claimed cases of violence was compared with that of a control group (13 physicians) by means of a 16-item assessment scale over the 3 months before and the 3 months after the course. Overall, 195 medical records were included in the statistical analysis. Out of these cases, 105 occurred before the course (60 analyzed by the control group and 45 by the intervention group) and 90 occurred after the course (45 analyzed by the control group and 45 by the intervention group). The results showed that the overall mean score of physicians who participated to the course increased from 14.0 (IQR 7.0) to 19.0 (IQR 8.0) with a p-value < 0.0001 and that the comparison between the intervention group and the control group after the course was 19.0 (IQR = 8.0) and 14.0 (IQR = 7.0), respectively, with a p-value < 0.0001. The improvement was very little and below the expectations pointing out that educational courses, although they can be a first step towards raising the ED physicians’ awareness of clinical forensics, may not be enough and that more structured training and new strategies should be implemented
Toward detection of electron-hole pair excitation in H-atom collisions with Au(111): Adiabatic molecular dynamics with a semi-empirical full-dimensional potential energy surface.
We report an analytic potential energy surface (PES) based on several hundred DFT energies for H interacting with a Au(111) surface. Effective medium theory is used to fit the DFT data, which were obtained for the Au atoms held at their equilibrium positions. This procedure also provides an adequate treatment of the PES for displacements of Au atoms that occur during scattering of H atoms. The fitted PES is compared to DFT energies obtained from ab initio molecular dynamics trajectories. We present molecular dynamics simulations of energy and angle resolved scattering probabilities at five incidence angles at an incidence energy, Ei = 5 eV, and at a surface temperature, TS = 10 K. Simple single bounce trajectories are important at all incidence conditions explored here. Double bounce events also make up a significant fraction of the scattering. A qualitative analysis of the double-bounce events reveals that most occur as collisions of an H-atom with two neighboring surface gold atoms. The energy losses observed are consistent with a simple binary collision model, transferring typically less than 150 meV to the solid per bounce
Molecular and epigenetic markers as promising tools to quantify the effect of occupational exposures and the risk of developing non-communicable diseases
Non-communicable diseases (NCDs) are chronic diseases that are by far the leading cause of death in the world. Many occupational hazards, together with social, economic and demographic factors, have been associated to NCDs development. Genetic susceptibility or environmental exposures alone are not usually sufficient to explain the pathogenesis of NCDs, but can be integrated in a more complex scenario that can result in pathological phenotypes. Epigenetics is a crucial component of this scenario, as its changes are related to specific exposures, therefore potentially able to display the effects of environment on the genome, filling the gap between genetic asset and environment in explaining disease development. To date, the most promising biomarkers have been assessed in occupational cohorts as well as in case/control studies and include DNA methylation, histone modifications, microRNA expression, extracellular vesicles, telomere length, and mitochondrial alterations
Reimagining Masculinity : Models of Masculinities in Italian Cisgender and Transgender Emerging Adults
Masculinities are defined as the repository of cultural and personal meanings attributed to men and boys. According to literature, masculinity ideals have an impact on how men behave. The present study aims at investigating how emerging adults interpret the concept of masculinity and embody and enact it. We were interested in understanding whether trans masculine and cisgender emerging adults conceptualized masculinity differently or similarly and whether they adopted different or similar strategies to act it out. To this aim, we conducted 6 focus groups with trans masculine (N = 16) and cisgender (N = 15) young adults. During the focus groups, participants discussed their concept of masculinity and how they embody and perform masculinity. Results showed that both groups identified social and bodily aspects in their conceptualization of masculinity. Although to varying extents, emerging adults were able to identify the limits of traditional models of masculinity. In both groups, markers for being recognized and affirming masculinity were found at both the bodily and social levels. Some peculiarities of the trans experience involve recognition of the privilege associated with masculinity, medicalized transition in order to achieve certain masculine markers, and a shift in perspective following social recognition of masculine identity
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