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PURPOSE: We conducted qualitative interviews with patients with cancer and providers to identify gaps in clinical care and highlight care delivery solutions for the return of secondary germline findings. METHODS: Twelve patients and 19 cancer providers from the United States were interviewed between January 2019 and May 2021. Interviews elicited feedback about patient information needs, emotional responses to secondary findings, and recommendations for improving pre-test education. RESULTS: Patients' responses ranged from gratitude to regret, depending on how much pre-test counseling they received before tumor testing. Providers cited insufficient clinic time as a major barrier to pretest education, favoring online support tools and standardized pre-test education models. Providers had differing perspectives on how pre-test education should be integrated into clinical workflows but agreed that it should include the differences between somatic and germline testing, the likelihood of medically actionable findings, and the possibility of being referred to a genetics provider. CONCLUSION: The spectrum of participants' responses to their secondary findings underscores the importance of adequate pre-test discussions before somatic sequencing. Although educational interventions could address patients' information needs and augment traditional pre-test counseling, health care systems, labs, and genetic providers may be called on to play greater roles in pre-test education.
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Neoplasias , Humanos , Estados Unidos , Neoplasias/genética , Neoplasias/terapia , Atenção à SaúdeRESUMO
OBJECTIVE: Identify improvement proposals for approaching violence against women through the evaluation of 2009s Protocol for approaching Violence Against Women in Health Care in Cataluña (PAVIM). DESIGN: Qualitative ethnographic study, 2019. SETTING: Public Health Care in Catalonia. PARTICIPANTS: One hundred eighty one participants, of which: 104 health care professionals, 43 women's associations and/or experts in violence against women and 34 experts on health and violence against women. METHOD: Intentional sampling. Eighteen focus groups and 34 semi-structured interviews. Evaluation with a gender and intersectional perspective. RESULTS: Results are structured along PAVIM's phases. PREVENTION: mandatory and institutionally recognized training for the whole professional team, with a gender and intersectional perspective. Detection: diagnostic code standardization for violence against women and improve coordination between primary care, emergency service, pediatrics and Assistance to Sexual and Reproductive Health. Care and recovery: territorial equity in the applied resources on cases of violence against women care (in the 9 sanitary regions of Catalonia) and improves communication between health and associative fields. CONCLUSIONS: The improvement proposals identified are those that have generated a greater consensus among participants and are the most interesting to primary care. As limitations, stand out the temporality and heterogeneity of the Catalan territory.
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Atenção Primária à Saúde , Violência , Atitude do Pessoal de Saúde , Criança , Feminino , Pessoal de Saúde , Humanos , Pesquisa Qualitativa , Violência/prevenção & controleRESUMO
This is a cross-sectional study of participants from a population census living in the province of Granada (Spain). A total of 1176 persons were contacted, 367 (31%) refused and 54 (6.7%) needed substitution. A final sample of 809 participants (response rate, 69.3%) were screened for mental disorder (MD) using the MINI International Neuropsychiatric Interview, a comprehensive interview validated to generate diagnoses compatible with ICD-10/DSM-4 criteria. Current (1-month) prevalence for any MD was 11.3% (95% confidence interval [CI], 9.7%-13.4%; affective 8.2%, anxiety 9.6%, psychotic 2.1%, addiction 1.8%, personality disorder 3.6%). Lifetime MD prevalence was 24.6% (95% CI, 21.6-27.6; affective 14.9%, anxiety 15.5%, psychotic 3.4%, addiction 4.4%, personality disorder 3.6%). Female sex was associated with MD, but this appeared partially due to higher levels of neuroticism among women. MD also correlated significantly with cannabis use, family history of MD, higher social adversity, higher suicide risk, poorer physical health, poorer cognitive performance, and personality problems.
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Transtornos Mentais/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cognição/fisiologia , Estudos Transversais , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Personalidade , Prevalência , Fatores Sexuais , Espanha/epidemiologia , Adulto JovemRESUMO
Standardised terminology in science is important for clarity of interpretation and communication. In invasion science - a dynamic and rapidly evolving discipline - the proliferation of technical terminology has lacked a standardised framework for its development. The result is a convoluted and inconsistent usage of terminology, with various discrepancies in descriptions of damage and interventions. A standardised framework is therefore needed for a clear, universally applicable, and consistent terminology to promote more effective communication across researchers, stakeholders, and policymakers. Inconsistencies in terminology stem from the exponential increase in scientific publications on the patterns and processes of biological invasions authored by experts from various disciplines and countries since the 1990s, as well as publications by legislators and policymakers focusing on practical applications, regulations, and management of resources. Aligning and standardising terminology across stakeholders remains a challenge in invasion science. Here, we review and evaluate the multiple terms used in invasion science (e.g. 'non-native', 'alien', 'invasive' or 'invader', 'exotic', 'non-indigenous', 'naturalised', 'pest') to propose a more simplified and standardised terminology. The streamlined framework we propose and translate into 28 other languages is based on the terms (i) 'non-native', denoting species transported beyond their natural biogeographic range, (ii) 'established non-native', i.e. those non-native species that have established self-sustaining populations in their new location(s) in the wild, and (iii) 'invasive non-native' - populations of established non-native species that have recently spread or are spreading rapidly in their invaded range actively or passively with or without human mediation. We also highlight the importance of conceptualising 'spread' for classifying invasiveness and 'impact' for management. Finally, we propose a protocol for classifying populations based on (i) dispersal mechanism, (ii) species origin, (iii) population status, and (iv) impact. Collectively and without introducing new terminology, the framework that we present aims to facilitate effective communication and collaboration in invasion science and management of non-native species.
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Espécies Introduzidas , Terminologia como Assunto , AnimaisRESUMO
Invasive alien species are among the main global drivers of biodiversity loss posing major challenges to nature conservation and to managers of protected areas. The present study applied a methodological framework that combined invasive Species Distribution Models, based on propagule pressure, abiotic and biotic factors for 14 invasive alien plants of Union concern in Italy, with the local interpretable model-agnostic explanation analysis aiming to map, evaluate and analyse the risk of plant invasions across the country, inside and outside the network of protected areas. Using a hierarchical invasive Species Distribution Model, we explored the combined effect of propagule pressure, abiotic and biotic factors on shaping invasive alien plant occurrence across three biogeographic regions (Alpine, Continental, and Mediterranean) and realms (terrestrial and aquatic) in Italy. We disentangled the role of propagule pressure, abiotic and biotic factors on invasive alien plant distribution and projected invasion risk maps. We compared the risk posed by invasive alien plants inside and outside protected areas. Invasive alien plant distribution varied across biogeographic regions and realms and unevenly threatens protected areas. As an alien's occurrence and risk on a national scale are linked with abiotic factors followed by propagule pressure, their local distribution in protected areas is shaped by propagule pressure and biotic filters. The proposed modelling framework for the assessment of the risk posed by invasive alien plants across spatial scales and under different protection regimes represents an attempt to fill the gap between theory and practice in conservation planning helping to identify scale, site, and species-specific priorities of management, monitoring and control actions. Based on solid theory and on free geographic information, it has great potential for application to wider networks of protected areas in the world and to any invasive alien plant, aiding improved management strategies claimed by the environmental legislation and national and global strategies.
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Biodiversidade , Ecossistema , Plantas , Espécies Introduzidas , Especificidade da EspécieRESUMO
Homeobox-containing genes encode a set of transcription factors that have been shown to control spatial patterning mechanisms in bilaterian organism development. The homeobox gene Gbx, included in the EHGbox cluster, is implicated in the development of the nervous system. In this study, we surveyed five different families of Bivalvia for the presence of Gbx genes by means of PCR with degenerate primers. We were able to recover seven Gbx gene fragments from five bivalve species: Solen marginatus, Mimachlamys varia, Venerupis pullastra, Ostrea edulis and Mytilus galloprovincialis (the derived amino acid sequence were designated Sma-Gbx, Cva-Gbx, Vpu-Gbx, Oed-Gbx and Mga-Gbx, respectively). These genes are orthologous to various Gbx genes present in bilaterian genomes. The Gbx genes in four Bivalvia families, namely Solenidae, Veneridae, Ostreidae and Mytilidae, are newly reported here and we also showed additional information of the Gbx genes of Pectinidae. The phylogenetic analyses by neighbour-joining, UPGMA, maximum parsimony and Bayesian analysis clearly indicated that the Gbx sequences formed a well supported clade and assigned these Gbx genes to the Gbx family. These data permit to confirm that the homeodomain of the Gbx family is highly conserved among these five distinct families of bivalve molluscs.
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Bivalves/genética , Genes Homeobox , Família Multigênica , Filogenia , Sequência de Aminoácidos , Animais , Sequência Conservada , Proteínas de Homeodomínio/genética , Dados de Sequência Molecular , Alinhamento de Sequência , Análise de Sequência de DNARESUMO
BACKGROUND: Federally Qualified Health Centers (FQHCs) serve minority and low-socioeconomic populations and provide care to high-risk smokers. These centers frequently experience barriers, including low provider and medical assistant (MA) knowledge around lung cancer screening (LCS). Subsequent low LCS referral rates by providers at FQHCs limit utilization of LCS in eligible, high-risk, underserved patients. METHODS: Providers and MAs from two FQHCs participated in a LCS educational session. A pre-educational survey was administered at the start of the session and a post-educational survey at the end. The intervention included a presentation with education around non-small cell lung cancer, LCS, tobacco cessation, and shared-decision making. Both surveys were used to evaluate changes in provider and MA ability to determine eligible patients for LCS. The Pearson's Chi-squared test with Yates' continuity correction was used to measure the impact. RESULTS: A total of 29 providers and 28 MAs enrolled in the study from two FQHCs. There was an improvement, P < .009 and P < .015 respectively, in provider and MA confidence in identifying patients for LCS. Additionally, one year prior to the program, 9 low-dose computed tomography (LDCTs) were ordered at one of the FQHCs and 0 at the other. After the program, over 100 LDCTs were ordered at each FQHC. CONCLUSIONS: A targeted LCS educational program improves provider and MAs' ability to identify eligible LCS patients and is associated with an increase in the number of patients referred to LDCT at FQHCs.
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Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Detecção Precoce de Câncer/métodos , Humanos , Neoplasias Pulmonares/diagnóstico , Encaminhamento e Consulta , FumantesRESUMO
PURPOSE: Although BRCA1/2 testing in ovarian cancer improves outcomes, it is vastly underutilized. Scalable approaches are urgently needed to improve genomically guided care. METHODS: We developed a Natural Language Processing (NLP) pipeline to extract electronic medical record information to identify recipients of BRCA testing. We applied the NLP pipeline to assess testing status in 308 patients with ovarian cancer receiving care at a National Cancer Institute Comprehensive Cancer Center (main campus [MC] and five affiliated clinical network sites [CNS]) from 2017 to 2019. We compared characteristics between (1) patients who had/had not received testing and (2) testing utilization by site. RESULTS: We found high uptake of BRCA testing (approximately 78%) from 2017 to 2019 with no significant differences between the MC and CNS. We observed an increase in testing over time (67%-85%), higher uptake of testing among younger patients (mean age tested = 61 years v untested = 65 years, P = .01), and higher testing among Hispanic (84%) compared with White, Non-Hispanic (78%), and Asian (75%) patients (P = .006). Documentation of referral for an internal genetics consultation for BRCA pathogenic variant carriers was higher at the MC compared with the CNS (94% v 31%). CONCLUSION: We were able to successfully use a novel NLP pipeline to assess use of BRCA testing among patients with ovarian cancer. Despite relatively high levels of BRCA testing at our institution, 22% of patients had no documentation of genetic testing and documentation of referral to genetics among BRCA carriers in the CNS was low. Given success of the NLP pipeline, such an informatics-based approach holds promise as a scalable solution to identify gaps in genetic testing to ensure optimal treatment interventions in a timely manner.
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Proteína BRCA2 , Informática Aplicada à Saúde dos Consumidores , Neoplasias Ovarianas , Proteína BRCA1/genética , Proteína BRCA2/genética , Informática Aplicada à Saúde dos Consumidores/métodos , Feminino , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Processamento de Linguagem Natural , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Encaminhamento e ConsultaRESUMO
Non-small cell lung cancer (NSCLC) is the leading cause of cancer deaths in the US and worldwide. In particular, vulnerable populations such as those of low socioeconomic status (SES) are at the highest risk for and suffer the highest mortality from NSCLC. Although lung cancer screening (LCS) has been demonstrated to be a powerful tool to lower NSCLC mortality, it is underutilized by eligible smokers, and disparities in screening are likely to contribute to inequities in NSCLC outcomes. It is imperative that we collect and analyze LCS data focused on individuals of low socioeconomic position to identify and address barriers to LCS utilization and help close the gaps in NSCLC mortality along socioeconomic lines. Toward this end, this review aims to examine published studies that have evaluated the impact of income and education on LCS utilization, eligibility, and outcomes. We searched the PubMed, Ovid MEDLINE, and CINAHL Plus databases for all studies published from January 1, 2010, to October 21, 2020, that discussed socioeconomic-based LCS outcomes. The review reveals that income and education have impact on LCS utilization, eligibility, false positive rates and smoking cessation attempts; however, there is a lack of studies evaluating the impact of SES on LCS follow-up, stage at diagnosis, and treatment. We recommend the intentional inclusion of lower SES participants in LCS studies in order to clarify appropriate eligibility criteria, risk-based metrics and outcomes in this high-risk group. We also anticipate that low SES smokers and their providers will require increased support and education regarding smoking cessation and shared decision-making efforts.
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The mussel Mytilus galloprovincialis is one of the most important aquaculture species in Europe. Its main production problem is the accumulation of toxins during coastal blooms, which prevents mussel commercialization. P-glycoprotein (ABCB1/MDR1/P-gp) is part of the multixenobiotic resistance system in aquatic organisms, and okadaic acid, the main DSP toxin, is probably a substrate of the P-gp-mediated efflux. In this study, the presence and possible role of P-gp in the okadaic acid detoxification process was studied in M. galloprovincialis. We identified, cloned, and characterized two complete cDNAs of mdr1 and mdr2 genes. MgMDR1 and MgMDR2 predicted proteins had the structure organization of ABCB full transporters, and were identified as P-gp/MDR/ABCB proteins. Furthermore, the expression of mdr genes was monitored in gills, digestive gland, and mantle during a cycle of accumulation-elimination of okadaic acid. Mdr1 significantly increased its expression in the digestive gland and gills, supporting the idea of an important role of the MDR1 protein in okadaic acid efflux out of cells in these tissues. The expression of M. galloprovincialismrp2, a multidrug associated protein (MRP/ABCC), was also monitored. As in the case of mdr1, there was a significant induction in the expression of mrp2 in the digestive gland, as the content of okadaic acid increased. Thus, P-gp and MRP might constitute a functional defense network against xenobiotics, and might be involved in the resistance mechanisms to DSP toxins.
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Dinoflagellida/química , Resistência a Medicamentos/genética , Expressão Gênica , Mytilus/efeitos dos fármacos , Ácido Okadáico/farmacologia , Xenobióticos/farmacologia , Animais , Perfilação da Expressão Gênica , Mytilus/genéticaRESUMO
Introduction: Patients with schizophrenia show cognitive deficits that are evident both behaviourally and with EEG recordings. Recent studies have suggested that non-linear analyses of EEG might more adequately reflect the complex, irregular, non-stationary behavior of neural processes than more traditional ERP measures. Non-linear analyses have been mainly applied to EEGs from patients at rest, whereas differences in complexity might be more evident during task performance. Objective: We aimed to investigate changes in non-linear brain dynamics of patients with schizophrenia during cognitive processing. Method: 18 patients and 17 matched healthy controls were asked to name pictures. EEG data were collected at rest and while they were performing a naming task. EEGs were analyzed with the classical Lempel-Ziv Complexity (LZC) and with the Multiscale LZC. Electrodes were grouped in seven regions of interest (ROI). Results: As expected, controls had fewer naming errors than patients. Regarding EEG complexity, the interaction between Group, Task and ROI indicated that patients showed higher complexity values in right frontal regions only at rest, where no differences in complexity between patients and controls were found during the naming task. EEG complexity increased from rest to task in controls in left temporal-parietal regions, while no changes from rest to task were observed in patients. Finally, differences in complexity between patients and controls depended on the frequency bands: higher values of complexity in patients at rest were only observed in fast bands, indicating greater heterogeneity in patients in local dynamics of neuronal assemblies. Conclusion: Consistent with previous studies, schizophrenic patients showed higher complexity than controls in frontal regions at rest. Interestingly, we found different modulations of brain complexity during a simple cognitive task between patients and controls. These data can be interpreted as indicating schizophrenia-related failures to adapt brain functioning to the task, which is reflected in poorer behavioral performance. HIGHLIGHTS: - We measured classical and multiscale Lempel-Ziv Complexity (LZCN and MLZC) of the EEG signal of patients with schizophrenia and controls at rest and while performing a cognitive task. - We found that patients and controls showed a different pattern of brain complexity depending on their cognitive state (at rest or under cognitive challenge). - Our results illustrate the value of the MLZC in the characterization of the pattern of brain complexity in schizophrenia on function of frequency bands. - Nonlinear methodologies of EEG analysis can help to characterize brain dysfunction in schizophrenia.
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BACKGROUND: Whereas deficits in executive functioning have been widely reported in schizophrenia and, somewhat less, in bipolar disorder, few studies have addressed this issue in people diagnosed with borderline personality disorder. Importantly, no studies to date have compared the ability to cope with interfering information in all three groups of patients. Impairment in executive control has been associated with reduced daily functioning. METHOD: The sample included 20 patients diagnosed with schizophrenia, 19 with bipolar disorder, 20 with borderline personality disorder, and 19 demographically matched healthy volunteers. Participants were administered two different experimental tasks to assess the ability to exert control over interference arisen from semantic memory or from distracting perceptual information. RESULTS: The three groups of patients showed similar impairment in solving interference from semantic memory compared to controls. However, no psychiatric group showed impairment in controlling interference from distracting perceptual information relative to controls. CONCLUSIONS: Our study shows, for the first time, that schizophrenia, bipolar disorder, and borderline personality disorder entail a common impairment in exerting control over interference arisen from memory but intact control over perceptual interference. These findings reinforce the idea that similar cognitive functioning may underlie severe mental disorders sharing poor global functioning but with different patterns of symptomatology.