Clustering in light nuclei and their effects on fusion and pre-equilibrium processes / Agrupamiento de núcleos ligeros y sus efectos en la fusión y procesos de pre-equilibrio

Summary The study of heavy ion nuclear reactionis an important tool to observe and disentangle different and competing mechanisms, which may arise in the different energy regimes. In particular, at relatively low bombarding energy, it is quite interesting the comparison between pre-equilibrium and thermal emission of light charged particles from hot nuclear systems [1-6]. Indeed, the nuclear structure of the interacting partners can be strongly correlated to the dynamics, especially at energies close to the Coulomb barrier, and this effect emerges when some nucleons or clusters of nucleons are either emitted or captured. In particular, a major attention has been devoted, in the last years, to the possible observation of cluster structure effects in the competing nuclear reaction mechanisms, especially when fast processes are involved. At this purpose, the four reactions 16O+30Si at 111 MeV, 16O+30Si at 128 MeV, 18O+28Si at 126 MeV, 19F+27Al at 133 MeV have been measured to study the onset of pre-equilibrium in an energy range where, for central collisions, complete fusion is expected to be the predominant mode. Experimental data were collected using the GARFIELD + RCo array [7], fully equipped with digital electronics at the LegnaroNational Laboratories. The comparison between experimental data and different model predictions have been performed: in particular, both dynamical models based either on Stochastic Mean Field (TWINGO) or Anti-symmetrized Molecular Dynamics and fully statistical models (GEMINI++) have been considered. Simulated events are filtered through a software replica of the apparatus, to take into account all possible distortions of the experimental distributions due to the finite size of the apparatus.

Resumen El estudio de la reacción nuclear iónica pesada es una herramienta importante para observar y esclarecer los diferentes mecanismos que compiten entre sí, que pueden surgir en los diferentes regímenes energéticos. En particular, a una energía de bombardeo relativamente baja, es bastante interesante la comparación entre el preequilibrio y la emisión térmica de partículas ligeras cargadas por sistemas nucleares calientes [1-6]. De hecho, la estructura nuclear del grupo que interactúa puede estar fuertemente correlacionada con la dinámica, especialmente en energías cercanas a la barrera de Coulomb, y este efecto surge cuando se emiten o capturan algunos nucleones o grupos de nucleones. En particular, se ha dedicado una gran atención, en los últimos años, a la posible observación de los efectos de la estructura del agrupamiento en los mecanismos de reacción nuclear competitivos, especialmente cuando se trata de procesos rápidos. Para este propósito, las cuatro reacciones 16O + 30Si a 111 MeV, 16O + 30Si a 128 MeV, 18O + 28Si a 126 MeV, 19F + 27Al a 133 MeV se han medido para estudiar el inicio del preequilibrio en un rango de energía en el cual, para colisiones centrales, se espera que la fusión completa sea el modo predominante. Los datos experimentales se recogieron utilizando la matriz GARFIELD + RCo [7], totalmente equipada con electrónica digital en los Laboratorios Nacionales Legnaro. La comparación entre los datos experimentales y las diferentes predicciones de modelos se han llevado a cabo: en particular, se han considerado los modelos dinámicos basados en el Campo Medio Estocástico (TWINGO) o Dinámica Molecular Antisimétrica y modelos completamente estadísticos (GEMINI ++). Los eventos simulados se filtran a través de una réplica de software del aparato, para tener en cuenta todas las posibles distorsiones de las distribuciones experimentales debido al tamaño finito del aparato.

Experiences of Discrimination, Harassment, and Violence in a Sample of Italian Transsexuals Who Have Undergone Sex-Reassignment Surgery.

The present study aims to provide an overview of experiences of discrimination, harassment, and violence in a sample of Italian transsexuals who have undergone sex-reassignment surgery (SRS). Lack of support for gender transition from family members was also assessed, before and after SRS. Data were collected in the context of a multicentric study (Milan, Florence, and Bari) on SRS outcome. Patients who underwent SRS were contacted and asked to fill out a questionnaire concerning experiences of discrimination, harassment, violence, and crime they might have experienced in previous years. Seventy-two participants took part in the research: 46 were male-to-female (MtF; 64%) and 26 were female-to-male (FtM; 36%). Thirty-six percent of the total sample (with no differences between MtF and FtM) experienced at least one episode of harassment, violence, or discrimination. The workplace was reported to be the social area with the highest risk of discrimination and harassment (22% of participants). Reports of more than one incident of discrimination, harassment, and violence characterized the majority of participants in the MtF sample. Compared with previous studies carried out in other countries, a much larger proportion of participants could count on a supportive family environment before and after transition. Our results show that Italian society at large is prejudiced against transsexuals, but at a more "micro" level, having a trans person as a family member might result in a protective and tolerant attitude.

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

STUDY QUESTION: Can whole-exome sequencing (WES) of patients with multiple morphological abnormalities of the sperm flagella (MMAF) identify causal mutations in new genes or mutations in the previously identified dynein axonemal heavy chain 1 (DNAH1) gene? SUMMARY ANSWER: WES for six families with men affected by MMAF syndrome allowed the identification of DNAH1 mutations in four affected men distributed in two out of the six families but no new candidate genes were identified. WHAT IS KNOWN ALREADY: Mutations in DNAH1, an axonemal inner dynein arm heavy chain gene, have been shown to be responsible for male infertility due to a characteristic form of asthenozoospermia called MMAF, defined by the presence in the ejaculate of spermatozoa with a mosaic of flagellar abnormalities including absent, coiled, bent, angulated, irregular and short flagella. STUDY DESIGN, SIZE, DURATION: This was a retrospective genetics study of patients presenting a MMAF phenotype. Patients were recruited in Iran and Italy between 2008 and 2015. PARTICIPANTS/MATERIALS, SETTING, METHODS: WES was performed for a total of 10 subjects. All identified variants were confirmed by Sanger sequencing. Two additional affected family members were analyzed by direct Sanger sequencing. To establish the prevalence of the DNAH1 mutation identified in an Iranian family, we carried out targeted sequencing on 38 additional MMAF patients of the same geographical origin. RT-PCR and immunochemistry were performed on sperm samples to assess the effect of the identified mutation on RNA and protein. MAIN RESULTS AND THE ROLE OF CHANCE: WES in six families identified a causal mutations in two families. Two additional affected family members were confirmed to hold the same homozygous mutation as their sibling. In total, DNAH1 mutations were identified in 5 out of 12 analyzed subjects (41.7%). If we only include index cases, we detected two mutated subjects out of six (33%) tested MMAF individuals. Furthermore we sequenced one DNAH1 exon found to be mutated (c.8626-1G > A) in an Iranian family in an additional 38 MMAF patients from Iran. One of these patients carried the variant confirming that this variant is relatively frequent in the Iranian population. The effect of the c.8626-1G > A variant was confirmed by RT-PCR and immunochemistry as no RNA or protein could be observed in sperm from the affected men. LARGE SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: WES allows the amplification of 80-90% of all coding exons. It is possible that some DNAH1 exons may not have been sequenced and that we may have missed some additional mutations. Also, WES cannot identify deep intronic mutations and it is not efficient for detection of large genomic events (deletions, insertions, inversions). We did not identify any causal mutations in DNAH1 or in other candidate genes in four out of the six tested families. This indicates that the technique and/or the analysis of our data can be improved to increase the diagnosis efficiency. WIDER IMPLICATIONS OF THE FINDINGS: Our findings confirm that DNAH1 is one of the main genes involved in MMAF syndrome. It is a large gene with 78 exons making it challenging and expensive to sequence using the traditional Sanger sequencing methods. We show that WES sequencing is good alternative to Sanger sequencing to reach a genetic diagnosis in patients with severe male infertility phenotypes. STUDY FUNDING/COMPETING INTERESTS: This work was supported by following grants: the 'MAS-Flagella' project financed by the French ANR and the DGOS for the program PRTS 2014 and the 'Whole genome sequencing of patients with Flagellar Growth Defects (FGD)' project financed by the Fondation Maladies Rares for the program Séquençage à haut débit 2012. The authors have no conflict of interest.

Defensive functioning in MtF and FtM transsexuals.

In spite of the potential clinical utility of defense mechanisms in the assessment of gender identity disorder patients as candidates to sex reassignment surgery, there is paucity of research in this field. The aim of the present study is therefore to ascertain whether the defensive profile of MtF and FtM transsexuals seeking sex reassignment surgery can be defined more primitive, immature and maladaptive than that of the two control groups. We compared the defensive profiles as assessed through the REM-71 (Steiner et al., 2001) of 104 MtF transsexuals, 46 FtM transsexuals and two control groups of males and females. Our results show that MtF transsexuals present an overall more primitive defensive array than that of both control groups, while FtMs show a profile not dissimilar from that of both control groups. Our results support the hypothesis that MtF transsexuals are characterized by higher proneness to psychopathology than the general population and show a more immature level of psychological functioning than FtM transsexuals.