Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel in a high-risk Hereditary Breast and Ovarian Cancer (HBOC) cohort. Samples from 824 Caucasian probands were retrospectively collected and the impact of genetic diagnosis and genetic variants epidemiology in this cohort was evaluated. Performance of risk-reducing prophylactic measures, such as prophylactic mastectomy and/or prophylactic oophorectomy, was assessed through clinical follow-up of patients with a positive genetic result. Pathogenic variants predisposing to HBOC were identified in 11.9% (98/824) individuals at BRCA2 (47/98), BRCA1 (24/98), PALB2 (8/51), ATM (7/51), CHEK2 (6/51) MSH6, (2/51), RAD51C (2/51) and TP53 (2/386). Of them, 11 novel pathogenic variants and 12 VUS were identified, characterized, and submitted to ClinVar. Regarding clinical impact, the risk of developing basal or Her2 breast cancer was increased 15.7 times or 37.5 times for BRCA1 and MSH6 pathogenic variants respectively. On the contrary, the risk of developing basal or luminal A breast cancer was reduced to 81% or 77% for BRCA2 and BRCA1 pathogenic variants, respectively. Finally, 53.2% of individuals testing positive for class IV/V variants underwent prophylactic surgery (mastectomy, oophorectomy or both) being significantly younger at the cancer diagnosis than those undertaking prophylactic measures (p = 0.008). Of them, 8 carried a pathogenic/likely pathogenic variant in other genes different from BRCA1 and BRCA2, and the remaining (46.7%) decided to continue with clinical follow-up. No differences in pathogenicity or risk of developing cancer were found for BRCA1/2 between targeted and multigene sequencing strategies; however, NGS was able to resolve a greater proportion of high-risk patients.

Ivermectin alters reproductive success, body condition and sexual trait expression in dung beetles.

Ivermectin is a very common parasiticide used in livestock. It is excreted in the dung and has negative effects on survival and reproduction of dung-degrading organisms, including dung beetles. Here we exposed the dung beetle Euoniticellus intermedius to different concentrations of ivermectin in the food and evaluated reproductive success and the expression of traits associated with survival and reproduction under laboratory conditions. It is the first time the effects of ivermectin were evaluated on offspring physiological condition and the expression of a secondary sexual trait. We also registered the number of emerged beetles, sex ratio and body size of emerged adult beetles. Besides reducing the number of emerged beetles and body size, as found in the same and other insects, ivermectin at high doses reduced muscle mass while at intermediate doses it increased lipid mass. Ivermectin changed offspring sex ratio and at high doses increased the size of male horn, which is an important trait defining the male mating success. Our results highlight the importance of regulating parasiticide usage in livestock in order to maintain ecosystem services provided by dung beetles and confirm that contaminants impose new environmental conditions that not only impact on wild animal survival, but also on evolutionary processes such as sexual selection.

Effects of an herbicide on physiology, morphology, and fitness of the dung beetle Euoniticellus intermedius (Coleoptera: Scarabaeidae).

Some agrochemical compounds threaten nontarget organisms and their functions in the ecosystem. The authors experimentally evaluated the effects of one of the most common herbicide mixtures used worldwide, containing 2,4-dichlorophenoxyacetic acid and picloram, on dung beetles, which play fundamental roles in the function of natural and managed ecosystems. The present study employed techniques of physiology and geometric morphometrics, besides including fitness measurements, to assess the effects of the herbicide in the introduced beetle Euoniticellus intermedius. Because herbicide components promote oxidative stress and affect survival in certain insects, the authors predicted negative effects on the beetles. Unexpectedly, no effect of herbicide concentration was found on clutch size, sex ratio, and fluctuating asymmetry, and it even increased physiological condition and body size in exposed beetles. Because the studied species presents 2 male morphs, the authors, for the first time, evaluated the effect of a pollutant on the ratio of these morphs. Contrary to the prediction, the herbicide mixture increased the proportion of major males. Thus, the herbicide does not threaten populations of the studied beetles. The present study discusses how both negative and positive effects of pollutants on wild animals modify natural and sexual selection processes occurring in nature, which ultimately impact population dynamics. The authors recommend the use of physiological and geometric morphometrics techniques to assess the impact of pollutants on nontarget animals. Environ Toxicol Chem 2017;36:96-102. © 2016 SETAC.

Cardiac coherence, self-regulation, autonomic stability, and psychosocial well-being.

The ability to alter one's emotional responses is central to overall well-being and to effectively meeting the demands of life. One of the chief symptoms of events such as trauma, that overwhelm our capacities to successfully handle and adapt to them, is a shift in our internal baseline reference such that there ensues a repetitive activation of the traumatic event. This can result in high vigilance and over-sensitivity to environmental signals which are reflected in inappropriate emotional responses and autonomic nervous system dynamics. In this article we discuss the perspective that one's ability to self-regulate the quality of feeling and emotion of one's moment-to-moment experience is intimately tied to our physiology, and the reciprocal interactions among physiological, cognitive, and emotional systems. These interactions form the basis of information processing networks in which communication between systems occurs through the generation and transmission of rhythms and patterns of activity. Our discussion emphasizes the communication pathways between the heart and brain, as well as how these are related to cognitive and emotional function and self-regulatory capacity. We discuss the hypothesis that self-induced positive emotions increase the coherence in bodily processes, which is reflected in the pattern of the heart's rhythm. This shift in the heart rhythm in turn plays an important role in facilitating higher cognitive functions, creating emotional stability and facilitating states of calm. Over time, this establishes a new inner-baseline reference, a type of implicit memory that organizes perception, feelings, and behavior. Without establishing a new baseline reference, people are at risk of getting "stuck" in familiar, yet unhealthy emotional and behavioral patterns and living their lives through the automatic filters of past familiar or traumatic experience.

Intuitive Intelligence, Self-regulation, and Lifting Consciousness.

This article explores the role of the heart in emotional experience, as well as how learning to shift the rhythms of the heart into a more coherent state makes it possible to establish a new inner baseline reference that allows access to our heart's intuitive capacities and deeper wisdom. The nature and types of intuition and the connection between intuition and compassionate action are discussed. It is suggested that increased effectiveness in self-regulatory capacity and the resultant reorganization of memories sustained in the neural architecture facilitates a stable and integrated experience of self in relationship to others and to the environment, otherwise known as consciousness. The implications of meeting the increasingly complex demands of life with greater love, compassion, and kindness, thereby lifting consciousness, are considered.

Pubertad en adolescentes de áreas rurales y urbanas / Puberty in adolescent of rural and urban areas

Introducción: los factores genéticos determinan un crecimiento potencial, pero el medio ambiente, inhibe o acelera su expresión. Objetivo: determinar el comportamiento según procedencia urbana o rural, de variables relacionadas con el desarrollo puberal: telarquia, pubarquia, menarquia...

Introduction: the genetic factors determine a potential growth, but the environment inhibits and to speed up its expression. Objective: to determine the behavior according the urban or rural origin of the variables related to the pubertal development: telarche, pubarche and menarche. Methods: a correlation and descriptive study was conducted in urban and rural adolescents from the Holguín province...

Evolución de paciente pediátrico con Síndrome Alagille. Reporte de caso / Evolution of a pediatric patient with Alagille’s Syndrome. Report of a case

El síndrome de Alagille es una enfermedad congénita y poco frecuente, se transmite de forma autosómica dominante, con expresividad variable. Se caracteriza por presentar colestasis, anomalías vertebrales y oculares, cardiopatía congénita y dismorfias faciales. El pronóstico de este síndrome es variable, depende fundamentalmente de la afectación hepática y los defectos cardiovasculares asociados. Se presentó el caso de una paciente con diagnóstico de síndrome de Alagille con evolución estable.

The Alagille’s syndrome is a few frequent congenital disease; it is transmitted in a dominant autosomal way, with variable expressivity. It characterizes for presenting cholestasis, vertebral and ocular anomalies, congenital cardiopathies and facial dysmorphias. The prognosis of this syndrome is variable, mainly depending of the hepatic injury and the associated cardiovascular defects. We presented the case of a patient with the diagnosis of Alagille’s Syndrome and stable evolution.

Portal Holguín: un camino hacia la metáfora visual / Portal Holguín: a road toward the visual metaphor

Se expone la evolución del Portal Holguín, como un proyecto de desarrollo Web, durante 5 años. Se valoran algunos elementos que contribuyen al logro de un portal usable, visible y recuperable por los buscadores en Internet. Se resume la remodelación del sitio de la ciencia en la provincia y se aborda el desarrollo del sitio del Centro de Investigaciones y Servicios Ambientales y Tecnológicos de Holguín.

Comportamiento de la histerectomía obstétrica: resultados de 6 años / Behavior of obstetric hysterectomy. Results of 6 years

Se realizó un estudio observacional, descriptivo retrospectivo, con el objetivo de conocer el comportamiento de la histerectomía obstétrica en el período (1997-2002) en el hospital docente ginecoobstétrico América Arias, incluyendo las pacientes a quienes se les practicó el proceder posterior a una complicación hemorrágica o infecciosa. Se estudiaron un total de 95 casos donde se identificaron: enfermedades de base y enfermedades asociadas al grupo, criterios para la intervención, así como las complicaciones transoperatorias y posoperatorias. Concluimos que la histerectomía obstétrica constituye un problema de salud en nuestro hospital, la cual se comportó en ascenso en el período estudiado con un pico en el 2001. La anemia y el mioma uterino, constituyeron las 2 condiciones mas vinculadas a la intervención, seguida de la enfermedad hipertensiva gestacional. La indicación que predomino fue la atonía uterina. La complicación más frecuente resultó la anemia

A study of promoter and intronic markers of ApoI/Fas gene and the interaction with Fas ligand in relapsing multiple sclerosis.

We studied the association between multiple sclerosis (MS) and a novel single nucleotide polymorphism (SNP), A/T(735)G/C, localized in intron IV of the ApoI/Fas gene, which is recognized by the restrictase MaeI. Fas-MaeI genotypes were screened in chromosomes of 215 healthy individuals and 312 relapsing MS patients of Spanish extraction. We also analyzed the interaction of this new intragenic marker with others previously associated with MS: class II HLA-DRB1*1501, Fas-MvaI and Fas ligand. The distribution of Fas-MaeI genotypes was in equilibrium in the control cohort, while a significant disequilibrium was observed in the patient group (chi(2) = 16; p = 0.0003). Fas-MaeI genotypes were statistically different in the MS and control groups, but the allele frequencies were not. Sharing of MvaI/MaeI genotypes of the promoter/intron IV region did not differ between patients and controls. We failed to find different frequencies of ApoI/Fas genotypes in the population of MS carriers of the class II HLA-DRB1*1501 allele. The case/control comparative study showed a relative risk (OR close to 1.6) of MS in individuals harboring the T and A alleles of Fas- MaeI and Fas ligand, respectively. In conclusion, our findings suggest a weak association between the intronic marker Fas-MaeI and MS and a relative interaction with Fas ligand in an MS cohort of South Spanish extraction.

Regulation by interferon beta-1a of reactive oxygen metabolites production by lymphocytes and monocytes and serum sulfhydryls in relapsing multiple sclerosis patients.

The activation of lymphocytes and monocytes and the concentration of reduction equivalents in serum were studied in a cohort of multiple sclerosis (MS) patients undergoing weekly treatment with 30 microg intramuscular interferon beta-1a for 2 years. The degree of activation of monocytes and lymphocytes and reactive oxygen species (ROS) production was higher in MS patients than in healthy controls and decreased in the course of interferon beta-1a treatment approaching control values. The concentration of reduced sulfhydryls in the serum of MS patients was lower than in healthy controls and the treatment with interferon beta-1a (IFNbeta-1a) raised the levels approaching the values of healthy controls.

Eficiencia del programa de prevención de la anemia por hematies falciformes (AHF) en Ciudad de la Habana, en el período de enero a diciembre de 1986 / Efficiency of the Programme for the prevention of anemia by sickle-shaped erythrocytes (ASE) in Havana city, during the period comprised between january and december 1986

Se expone la eficiencie encontrada en el Programa de Prevención de la Anemia por Hematies Falciformes en Ciudad de la Habana en el período de enero a diciembre de 1986. Se señala que en dicho período se estudió el 95 % de las gestantes; que la asistencia de gestantes con la afección a la Consulta de Asesoramiento Genético fue del 92 %. Se expone que la confrontación con el estudio del tipo de hemoglobina al nacimiento destacó los siguientes resultados: no se detectaron niños con la enfermedad, a excepción de 7 ya conocidos, que nacieron de parejas de alto riesgo no sometidas al Diagnóstico Prenatal; se detectaron 2 parejas de alto riesgo no estudiadas por el pesquisaje. Se realiza un análisis de estos resultados