Search Results (44)

Background: The national guidelines, informed by evidence from the National Institutes of Health (NIH), define the criteria for genetic testing of BRCA1/2 and other genes associated with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome (LS). When a germline pathogenic variant (PV) is identified in an index case, clinical recommendations advise informing at-risk relatives about the availability of predictive genetic testing, as early identification of carriers allows for timely implementation of preventive measures. Methods: This retrospective observational study examined data collected between 2017 and 2024 at the Medical Genetics Unit of the “Renato Dulbecco” University Hospital in Catanzaro, Italy. The analysis focused on trends in the identification of individuals carrying PVs in cancer predisposition genes (CPGs) and the subsequent uptake of cascade genetic testing (CGT) among their family members. Results: Over the study period, from 116 probands were performed 257 CGTs on 251 relatives. A notable reduction of approximately ten years in median age was observed, 39% were found to carry familial mutation and were referred to personalized cancer prevention programs. Among these, 62% accessed Oncological Genetic Counselling (CGO) within one year of the proband’s diagnosis, suggesting effective communication and outreach. Conclusions: The findings highlight the critical role of effective CGO and intrafamilial communication in hereditary cancer prevention. The identification of PVs, followed by timely CGTs and implementation of preventive strategies, significantly contributes to early cancer risk management. Periodic monitoring of CGT uptake and outcome trends, as demonstrated in this study, is essential to refine and optimize genetic services and public health strategies. Full article

This study analyzes displaced families’ disintegration amidst multifaceted crises in the Far North Region of Cameroon. The focus is on displaced families in four divisions where host communities along the border of Nigeria have fled Boko Haram, due to sociopolitical instability and environmental degradation. Both quantitative and qualitative analyses show how insecurity and precarity have resulted in disintegrating, dispersing and sometimes recomposing the traditional structure of the family institution by disrupting marriage traditions, gender roles and intergenerational relations. Such shifts in the family occurred as a result of the challenging contexts in their hometowns, during flight and after settling in the host towns. The findings demonstrate the effects of the multifaceted crises, which created intergenerational, but also inter- and intra-community rifts that are challenging to repair amidst mass distrust and continued insecurity. This study contributes especially to understanding how these crises affect family cohesion and intergenerational relations as part of dynamics of great social change. Full article

Background: Bronchopulmonary sequestration (BPS) is a portion of dysplastic pulmonary tissue not communicating with the tracheobronchial tree. Its vascularization is provided by abnormal arteries originating from the systemic circulation. Previous papers report different venous drainage (VD) between intralobar (ILS) and extralobar sequestration (ELS), respectively, into the pulmonary or the systemic veins. The aim of our study is to investigate the VD as independent predictor of the type of PS. Methods: We retrospectively reviewed 41 pediatric patients who underwent surgery for BPS between 2016 and 2023 in two centers. Patients treated prenatally and without pre-operative CT were excluded. BPS were classified either intra or extra lobar. Pre-operative radiological BPS classification prediction was assessed based on intra-operative thoracoscopic findings. Lesion VD and sharp margins (SM) on pre-operative CT were assessed as predicting factors. Results: A total of 36 patients were included: 24 ILS and 12 ELS. All patients underwent thoracoscopic resection without major complications. VD is significantly different between ILS and ELS: 96% of ILS drain into the pulmonary system while 83% of ELS drain into a systemic vein (p < 0.00001). On pre-operative CT, the absence of SM predicts for an ILS in 100% of cases. SM has a PPV for ELS of 85.7%. The combination of SM and systemic VD has a PPV for ELS of 91.7%. Conclusions: In our series, the absence of SM alone is suggestive for an ILS in 100% of cases, while the combination of SM and systemic VD is more accurate in predicting ELS. This may help improving surgical planning and family consultation. Full article

The calcareous nannoplankton comprises haptophyte eukaryotes known as coccolithophores, capable of calcifying elaborate external skeletons (coccoliths s.l.) which differ morphologically depending on the phase of the life cycle considered, and the locus (intra- or extracellular) of mineralization. No study is currently available that analyzes the impact of these differences on coccolith morphology. An analysis of the assembly of their crystals is conducted here in search of the following: (1) identical traits across life cycles; (2) fossil records diagnostic of extracellular calcification; and (3) influence of the geometry of biomineralization during the diploid phase on the long-term evolution of a clade. This study shows patterns such as correlation of characters and structural imprint that unify the haploid and diploid phases, indicating a strong cellular integrity and offering potent means to determine life cycles in living and fossil communities. It also shows that differences in diversity patterns and longevity among families and orders depend on coccolith geometry, concentric geometry being more favorable to stability, and superposition geometry facilitating morphological diversification. Extinction occurs when the potential for diversification is attained. Finally, I propose that the evolution of biomineralization in the calcareous nannoplankton may have been more complex than initially thought, with intra- and extracellular calcification evolving independently. Full article

The Oropouche virus (OROV) is a segmented negative-sense RNA arbovirus member of the Peribunyaviridae family, associated with recurring epidemics of Oropouche fever in Central and South America. Since its identification in 1955, OROV has been responsible for outbreaks in both rural and urban areas, with transmission involving sylvatic and urban cycles. This study focuses on the characterization of an OROV isolate from a human clinical sample collected in the state of Rio de Janeiro, a non-endemic region in Brazil, highlighting ultrastructural and morphological aspects of the viral replicative cycle in Vero cells. OROV was isolated in Vero cell monolayers which, following viral inoculation, exhibited marked cytopathic effects (CPEs), mainly represented by changes in cell morphology, including membrane protrusions and vacuolization, as well as cell death. Studies by transmission electron microscopy (TEM) revealed significant ultrastructural changes, such as apoptosis, intense remodeling of membrane-bound organelles and signs of rough endoplasmic reticulum and mitochondrial stress. Additionally, the formation of specialized cytoplasmic vacuoles and intra- and extracellular vesicles emphasized trafficking and intercellular communication as essential mechanisms in OROV infection. RT-qPCR studies confirmed the production of viral progeny in high titers, corroborating the efficiency of this experimental model. These findings contribute to a better understanding of the cytopathogenic mechanisms of OROV infection and the contribution of cellular alterations in OROV morphogenesis. Full article

Moths use pheromones to ensure intraspecific communication. Nevertheless, few studies are focused on both intra- and intersexual communication based on pheromone recognition. Pheromone-binding proteins (PBPs) are generally believed pivotal for male moths in recognizing female pheromones. Our research revealed that PBP1 of Agriphila aeneociliella (AaenPBP1) serves a dual function in both intra- and intersexual pheromone recognition. Here, a total of 20 odorant-binding protein (OBP) family genes from A. aeneociliella were identified and subjected to transcriptional analysis. Among these, AaenPBP1 was primarily highly expressed in the antennae. Competitive fluorescence binding assays and molecular docking analyses demonstrated that AaenPBP1 exhibits a strong binding affinity for the female sex pheromone (Z)-9-Hexadecenyl acetate and the male pheromone 1-Nonanal. Notably, hydrogen bonds were observed between Ser56 and the ligands. The analysis of pheromone components and PBPs in lepidopteran lineage suggested that their strong and precise interactions, shaped by coevolution, may play a crucial role in facilitating reproductive isolation in moths. Our findings provide valuable insight into the functional significance of PBPs in invertebrates and support the development of behavioral regulation tools as part of an integrated pest management strategy targeting crambid pests. Full article

Consisting of more than 11,000 members distributed over five families, the tautomerase superfamily (TSF) is a large collection of proteins with diverse biological functions. While much attention has been given to individual TSF enzymes, a majority remain structurally and functionally uncharacterized. Given its large size, studying a representative member of each family offers a viable approach for extracting mechanistic insights applicable to the entire superfamily. In this study, cis-3-chloroacrylic acid dehalogenase (cis-CaaD), 5-carboxymethyl-2-hydroxymuconate isomerase (CHMI), malonate semialdehyde decarboxylase (MSAD), and 4-oxalocrotonate tautomerase (4-OT) were referenced against the well-studied macrophage migration inhibitory factor (MIF) and D-dopachrome tautomerase (D-DT) using triplicate 1 μs molecular dynamics (MD) simulations for a total of 18 μs. Through root mean square fluctuation (RMSF) measurements, correlation analyses, and comparisons to previous crystallographic structures, we reveal key mechanistic insights that promote the understanding of the catalytic activities in TSF. Collectively, our findings from these functionally diverse TSF proteins provide key information on allosteric coupling, long-range intra- and inter-subunit communications as well as structure–activity relationships that enable new studies in the superfamily. Full article

Because Indigenous peoples face unique challenges to their autonomy and lifeways from dominant media influences, Indigenous radio has been used to facilitate intra-community engagement among these groups. A small but long-standing literature reveals both strengths and vulnerabilities of Indigenous radio, though the rapidly changing communications landscape suggests new possibilities for these media sources. Our research was a community–academic collaboration that employed exploratory and mixed (survey, interview, and observational) methods across two Indigenous communities in the Central and Southern Amazon of Ecuador. The Indigenous radio station, La Voz de la CONFENIAE (Confederación de las Nacionalidades Indígenas de la Amazonía Ecuatoriana), sought to perform an impact assessment that would measure both the character and extent of the impact of radio programming with sensitivity to the priorities of listeners as to the purpose, function, and appropriate impact metrics for an Indigenous radio station. A total of 92 surveys and 30 interviews across two communities were conducted in July and August of 2022. Our findings reveal (a) the informational function of this radio for the Indigenous communities in its listening reach; (b) that radio programming conveys family, community, and cultural knowledge bi-directionally both from and to its listening audience; and (c) that members of the audience were, in turn, prompted to action and engagement. In our discussion, we identify opportunities to improve the assessment of community-owned radio as a bidirectional resource for communities. Our work also advances a model of self-determined and stakeholder-driven evaluation for Indigenous community radio, with particular attention to the material (e.g., behavioral) impacts of radio messages and potential for radio to support communal and collective engagements desired by the communities it serves. Full article

This study aimed to describe the prevalence of HTLV-1/2 in quilombola communities in the state of Pará and investigate the possible sociodemographic risk factors associated with the infection, as well as to trace the occurrence of the familial transmission of the virus. A total of 310 individuals living in eight quilombos located in the state of Pará (northern Brazil) were investigated for the presence of anti-HTLV-1/2 antibodies using an enzyme-linked immunosorbent assay (ELISA), and positive samples were confirmed using Western blot and/or real-time quantitative polymerase chain reaction (qPCR). Participants answered a questionnaire about sociodemographic aspects and risk factors for infection. Anti-HTLV-1/2 antibodies were detected in two individuals (one man and one woman), for an overall seroprevalence of 0.65%. Both individuals belonged to the community of São José de Icatú. The search for intrafamilial infection identified two other infected women, which increased the general prevalence of HTLV-1 among the Icatú to 6.25% (4/64). Western blot and qPCR confirmed their HTLV-1 infection, and phylogenetic analysis demonstrated that the isolates were of the cosmopolitan subtype and transcontinental subgroup. Epidemiological investigation of the cases revealed that the three women, at some point in their lives, had a relationship with the infected male individual. HTLV-1 is transmitted silently between individuals in the community of São José de Icatú with a present or past family relationship, stressing the need for screening and laboratory diagnosis to prevent further dissemination of the virus and surveillance of disease emergence. Full article

Significant health disparities exist in relation to pathogenic variants in BRCA1/2. This study aimed to better understand the barriers and facilitators to BRCA1/2 genetic testing and intrafamilial communication of risk in racially and ethnically diverse individuals. We conducted qualitative interviews with non-Hispanic White (n = 11) and Black, Indigenous, People of Color (BIPOC) individuals (n = 14) who underwent testing for pathogenic BRCA1/2 variants. We employed template analysis, case study analysis, and comparative case study analysis to examine healthcare experiences related to genetic testing as well as intrafamilial communication of risk. Applying an intersectional lens, we sought to inform more person-centered approaches to precision healthcare and help dismantle disparities in genomic healthcare. Template analysis revealed salient factors at the individual (psychosocial well-being), interpersonal/familial, and healthcare system levels. A two-part case study analysis provided insights into how race/ethnicity, cultural norms, and socioeconomic status interact with systemic and structural inequities to compound disparities. These findings underscore the need for person-centered, tailored, and culturally sensitive approaches to understanding and addressing the complexities surrounding testing and the communication of BRCA risk. Applying an intersectional lens can inform more person-centered approaches to precision healthcare and may help to surmount existing disparities. Full article

Background/Objectives: Pathogenic variants in the deleted in colorectal cancer gene (DCC), encoding the Netrin-1 receptor, may lead to mirror movements (MMs) associated with agenesis/dysgenesis of the corpus callosum (ACC) and cognitive and/or neuropsychiatric issues. The clinical phenotype is related to the biological function of DCC in the corpus callosum and corticospinal tract development as Netrin-1 is implicated in the guidance of developing axons toward the midline. We report on a child with a novel inherited, monoallelic, pathogenic variant in the DCC gene. Methods: Standardized measures and clinical scales were used to assess psychomotor development, communication and social skills, emotional and behavioural difficulties. MMs were measured via the Woods and Teuber classification. Exome sequencing was performed on affected and healthy family members. Results: The patient’s clinical presentation during infancy consisted of paroxysmal dystonic posturing when asleep, mimicking nocturnal leg cramps. A brain magnetic resonance imaging (MRI) showed complete ACC. He developed typical upper limb MMs during childhood and a progressively evolving neuro-phenotype with global development delay and behavioural problems. We found an intrafamilial clinical variability associated with DCC mutations: the proband’s father and uncle shared the same DCC variant, with a milder clinical phenotype. The atypical early clinical presentation of the present patient expands the clinical spectrum associated with DCC variants, especially those in the paediatric age. Conclusions: This study underlines the importance of in-depth genetic investigations in young children with ACC and highlights the need for further detailed analyses of early motor symptoms in infants with DCC mutations. Full article

Humans are complex systems, ‘macro-entities’, whose existence, behaviour and consciousness stem out of the configurations of physical entities on the micro-level of the physical world. But an explanation of what humans do and think cannot be found through ‘tracking us back’, so to speak, to micro-particles. So, in explaining human behaviour, including linguistic behaviour on which this paper focuses, emergentism opens up a powerful opportunity to explain what it is exactly that emerged on that level, bearing in mind the end product in the form of the intra- and inter-cultural diversity. Currently there is a gap in emergentism research. On one hand, there are discussions in philosophy of the emergent human reality; on the other, there are discussions of social, cultural, or individual variation of these emergent aspects of humanity in the fields of anthropology, sociology, linguistics or psychology. What I do in this paper is look for a way to ‘trace’ some such diversified emergents from what is universal about their ‘coming to being’, all the way through to their diversification. My chosen emergent is human time, my domain of inquiry is natural-language discourse, and the drive behind this project is to understand the link between ‘real’ time of spacetime on the micro-level from which we emerged and the human time devised by us, paying close attention to the overwhelming diversity in which temporal reference is expressed in human languages. The main question is, where does this diversity fit in? Does understanding of this diversity, as well as of what lurks under the surface of this diversity, aid the emergentism story? My contribution to this volume on ‘the nature of structure and the structure of nature’ thus takes the following take on the title. The structure of human communication is at the same time uniform, universal, and relative to culture, in that it is emergent as a human characteristic, and as such compatible with the micro-level correlates in some essential ways, but also free to fly in different directions that are specific to societies and cultures. I explore here the grey area between the micro-level and the linguistic reflections of time—the middle ground that is emergent itself but that tends to be by-passed by those who approach the question of human flowing time from either end: metaphysics and the philosophy of time on the one hand, and contrastive linguistics, anthropological linguistics and language documentation on the other. I illustrate the debate with examples from tensed and tenseless languages from different language families, entertaining the possibility of a conceptual universal pertaining to time as degrees of epistemic modality. Needless to say, putting the question in this way also sets out my (not unassailable) methodology. Full article

Advances in vaccinology have resulted in various new vaccines being introduced into recommended immunization schedules. Armenia introduced the rotavirus vaccine (RV) and the pneumococcal conjugate vaccine (PCV) into its national schedule in 2012 and 2014, respectively. Using data from the Armenia Demographic and Health Survey, the uptake of the RV and the PCV among children aged younger than three years was estimated. Multilevel logistic regression models were used to evaluate individual- and community-level factors associated with uptake. Intra-cluster correlations were estimated to explain variations in uptake between clusters. The uptake proportionof each RV dose were 90.0% and 86.6%, while each PCV dose had values of 83.5%, 79.4%, and 75.5%, respectively. Non-uptake was highest among children less than 6 months old, children with one sibling, children from a wealthy family, or children whose living distance to a health clinic was problematic. Significant variability in non-uptake due to cluster differences was found for both RV doses (30.5% and 22.8%, respectively) and for the second PCV dose (53.9%). When developing strategies for new vaccine implementation, characteristics of the child, such as age, siblingship, and distance to a health clinic or residence, should be considered. Further exploration of cluster differences may provide insights based on the increased uptake of these and other new vaccines. Full article

Intrafamilial child/adolescent homicide is the murder of a child/adolescent by one or more family members. This study delves into the medical and sociological consequences of child homicide, shedding light on the broader impact beyond individual families, which extends into the local community. Two Internet search engines and the search engines of major national news websites were surveyed to identify the number of intrafamilial child/adolescent homicide cases that occurred in Greece from January 2010 to December 2020. Over the study period, 34 victims of intrafamilial child/adolescent homicides were identified. The above deaths reflect an intrafamilial child/adolescent homicide rate of 0.15 homicides per year per 100,000 inhabitants. Most of the perpetrators (51.4%) were male, and the victims were equally divided into males and females. The ages of the perpetrators ranged from 13 to 61 years, and the ages of the victims ranged between 0 and 17 years. Most perpetrators (54.5%) had a previous psychiatric history and in many cases, they committed (33.3%) or attempted (15.2%) suicide after the homicide. The most common method of homicide was strangulation (usually combined with suffocation) (25%), followed by abandonment (15.6%). The most commonly reported motives were spousal revenge (26.5%) and psychotic disorders (26.5%). Raising awareness for intrafamilial child and adolescent homicide is of the utmost importance for the prevention of this dreadful phenomenon. Full article

Purpose: To understand adolescents’ and their parents’ perspectives on ‘being active’, this study explored the experience of participation in physical activity (PA), the role of long-term participation in PA, and the importance of remaining active for life. Methods: Eight ambulant adolescents with CP (aged 11–16 years, seven male) participated in a high-level mobility programme twice per week for 12 weeks. Guided using interpretive description, adolescents and 12 of their parents were interviewed before, after and nine months following the programme. Thirty-eight interviews were coded, analysed, and interpreted, informed by audit information, reflective journaling, and team discussions. Results: Adolescents and their parents highly value being active now and into adulthood. Sustainable participation in PA requires adolescents and families to navigate complex environments (interpersonal, organisational, community, and policy). Core themes were: ‘Just Doing it’, ‘Getting the Mix Right’ (right people, right place, right time), ‘Balancing the Continua’ and ‘Navigating the Systems’. The continua involved balancing intra-personal attributes: ‘I will try anything’ through to ‘I will do it if I want to’ and ‘It’s OK to be different’ through to ‘It sucks being disabled’. Conclusions: The journey to sustainable participation was complex and dynamic. Experiences of successful journeys are needed to help adolescents with CP “stay on track” to sustainable participation. Full article