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The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in the following genes: PHACTR1, SCN8A, KCNT1, CDKL5, NEXMIF, CUX1, TSC2, GABRB2, and SMARCB1. In addition, we identified one large duplication including three genes, UBE3A, GABRB3, and MAGEL2, and one large deletion including deletion of ARFGAP1, EEF1A2, CHRNA4, and KCNQ2. All patients were enrolled in the NYCKidSeq study, a research program studying the communication of genomic information in clinical care, as well as the clinical utility and diagnostic yield of GS for children with suspected genetic disorders in diverse populations in New York City. We observed variability in the correlation between reported variant allele fraction and the severity of the patient's phenotype, although we were not able to determine the mosaicism percentage in clinically relevant tissue(s). Although our study was not sufficiently powered to assess differences in mosaicism detection between the two testing modalities, we saw a trend toward better detection by GS as compared with TGP testing. This case series supports the importance of mosaicism in childhood-onset genetic conditions and informs guidelines for laboratory and clinical interpretation of mosaic variants detected by GS.

Purpose: This systematic review provides a comprehensive summary of the diagnostic accuracy of English language sample analysis (LSA) measures for the identification of developmental language disorder. Method: An electronic database search was conducted to identify English publications reporting empirical data on the diagnostic accuracy of English LSA measures for children aged 3 years or older. Results: Twenty-eight studies were reviewed. Studies included between 18 and 676 participants ranging in age from 3;0 to 13;6 (years;months). Analyzed measures targeted multiple linguistic domains, and diagnostic accuracy ranged from less than 25% to greater than 90%. Morphosyntax measures achieved the highest accuracy, especially in combination with length measures, and at least one acceptable measure was identified for each 1-year age band up to 10 years old. Conclusion: Several LSA measures or combinations of measures are clinically useful for the identification of developmental language disorder, although more research is needed to replicate findings using rigorous methods and to explore measures that are informative for adolescents and across diverse varieties of English. Supplemental Material: https://doi.org/10.23641/asha.21183247

Las interacciones ecológicas que ocurren en los diferentes ecosistemas permiten un flujo de energía y nutrientes. Pueden ser intraespecíficas o interespecíficas y categorizarse en mutualismos, cuando las especies involucradas se ven beneficiadas; o en antagonismos, cuando existen efectos negativos derivados de su interacción. Existen plantas parásitas con capacidad de establecerse sobre otras plantas para nutrirse y desarrollarse, como los muérdagos, que son un grupo de plantas que tienen un impacto negativo en las especies forestales y arbolado urbano, ya que pueden afectar su desarrollo. A pesar de lo anterior, también puede beneficiar a otros organismos como aves o mamíferos al proveerles alimento, refugio o sitios de anidación. El presente trabajo describe casos y características de estas interacciones.

Antecedentes y Objetivos: El dosel de las selvas húmedas alberga una gran diversidad de plantas epífitas y hormigas arborícolas. Estos grupos biológicos suelen ser estudiados individualmente sin considerar sus interacciones, pero pueden establecer mutualismos complejos y especializados como los jardines de hormigas, los cuales son un ensamble particular de angiospermas epífitas cultivadas por hormigas. El objetivo de este trabajo fue presentar el primer listado comentado y los mapas de distribución de las epífitas y una especie de hormiga que se asocian en jardines de hormigas reportados en el sureste de México.Métodos: Se recopilaron registros de ocurrencia de las especies de angiospermas epífitas y hormigas en la literatura especializada, registros de herbario y fotografías disponibles en bases de datos en línea nacionales e internacionales, así como observaciones en campo. Resultados clave: Un total de ocho especies de epífitas pertenecientes a seis familias de angiospermas y la hormiga Azteca gnava, fueron documentados en el sureste de México (de Veracruz a Quintana Roo), siendo los límites entre los estados de Tabasco y Chiapas en donde se concentra la mayor diversidad. Epidendrum flexuosum fue la especie más representativa de los jardines de hormigas en el sureste de México.Conclusiones: Los jardines de hormigas son sistemas complejos y su estudio en México es incipiente, por lo que se espera que este trabajo incentive tanto el estudio como la conservación de las especies del dosel y sus mutualismos.

Purpose: Our proof-of-concept study tested the feasibility of virtual testing using child assessments that were originally validated for in-person testing only. Method: Ten adult–child dyads were assigned to complete both in-person and virtual tests of language, cognition, and narratives. Child participants fell between the ages of 4 and 8 years; adult participants were speech-language clinicians or researchers with experience in administering child assessments. Half of child participants were Spanish–English bilinguals, and half were monolingual English speakers. Results: Results showed similar performance across in-person and virtual modalities on all assessments. Recommendations for adapting, administering, and scoring virtual measures with linguistically diverse children are discussed. Conclusions: Although additional research on virtual assessment is needed, our results open opportunities for appropriate remote assessment, particularly for bilingual children, who may not have in-person access to speech-language pathology services.

This study aims to assess the COVID-19 partial lockdown influence on air quality in the Metropolitan Region Rio de Janeiro (MRRJ). Criteria pollutants (CO, SO2, O3, and NO2) sampled at four sites under vehicular and industrial influences were investigated, between March 1st to April 12th, 2019 and 2020. Results showed that the partial lockdown affected pollutant levels through emission sources reduction. High decreased concentrations were observed for SO2, NO2, and CO; while an increase in the ozone concentration was recorded. Pollutant time variation evaluations helped to understand the trend and sources in the different periods. Este estudo tem como objetivo avaliar a influência do lockdown parcial da COVID-19 na qualidade do ar na Região Metropolitana do Rio de Janeiro (RMRJ). Poluentes de critérios (CO, SO2, O3 e NO2) amostrados em quatro locais sob influências veiculares e industriais foram investigados, entre 1º de março e 12 de abril de 2019 e 2020. Os resultados mostraram que o bloqueio parcial afetou os níveis de poluentes por meio da redução das fontes de emissão. Reduções nas concentrações de SO2, NO2 e CO foram registradas; enquanto um aumento na concentração de ozônio foi observado. As avaliações da variação temporal dos poluentes ajudaram a entender a tendência e as fontes nos diferentes períodos.

PurposeUse of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families.MethodsGUÍA development occurred in 5 phases: formative research, content development, user interface design, stakeholder/community member input, and web application development. Development was informed by qualitative research involving parents (N=22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N=18) completed structured feedback interviews post-result disclosure using GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA’s design to ensure technical, cultural, and literacy appropriateness.ResultsNYCKidSeq participants responded positively to the use of GUÍA to deliver their children’s results. All participants (N=10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear.ConclusionsGUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA’s utility for families enrolled NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA’s effectiveness in communicating results among diverse, multilingual populations.

Esse trabalho tem como objetivo relatar as lições aprendidas e desafios na realização do evento Ponte para Inovação, transforme sua ideia em inovação tecnológica com a UFPE, bem como as experiências com a liderança da atividade de extensão. Para o desenvolvimento do trabalho, foi utilizado a metodologia pesquisa-ação, que é desenvolvida de forma conjunta com a ação analisada em que tanto pesquisadores e participantes da ação, interagi de forma participativa e cooperativa com o processo. Como resultados, o evento possibilitou que os envolvidos desenvolvessem habilidades em relação à organização e gerenciamento de projetos, conhecimento sobre os temas principais que foram abordados no evento e network com o mercado, concluindo que as atividades de extensão trazem benefícios tanto para a relação entre universidade e sociedade quanto para seus agentes de construção.

In this prospective study, we examined the link between positive family relationships during childhood and adolescence and health and happiness three decades later in middle adulthood. We also investigated the stability of positive family relationships into adulthood as one possible pathway underlying this long-term association. Data were from the Fullerton Longitudinal Study (FLS) an ongoing investigation in the United States initiated in 1979 when children were aged 1 year with the most recent data collected in 2017. A cross-informant methodology was employed in which mothers and children independently completed the Positive Family Relationships (PFR) scale annually when children were of ages 9-17 years. When study children reached age 38, they reported on their current PFR, global health, and comprehensive happiness. Structural equation models revealed that children's perceptions of the family during childhood and adolescence predicted both their health and happiness at age 38. Mothers' perspectives of PFR predicted greater adult children's health, but did not predict their happiness. Associations were independent of family socioeconomic status, gender, intelligence, and extraversion. Moreover, while controlling for behavior problems (proxy for health) and happiness at age 17, both children's and mothers' early PFR related to PFR at 38 years, which in turn, predicted increased health and happiness at age 38, thus providing evidence for a pathway underlying this long-term connection. Our prospective findings revealed that families in which members get along well and support each other during the childhood and adolescent years furnish a foundation for positive family relationships in adulthood, which are associated with greater health and happiness. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

É irrefutável que existe uma lacuna no que tange às informações acerca do Programa de Educação Tutorial (PET) em todo o país. Frente a isso, o grupo PET Mentor Aprendiz, que atua na Universidade Federal de Pernambuco (UFPE), criou um recenseamento para agregar conhecimento e explorar os programas a nível nacional. O trabalho consiste em apresentar uma pesquisa censitária de integrantes ativos dos PETs no Brasil, tendo em vista a atualização de informações insuficientes existentes no Ministério da Educação (MEC). Dessa forma, é possível ampliar a visão do impacto gerado pelo PET na vida dos estudantes nas Instituições de Ensino Superior (IES) em todo o país e salientar como o programa é capaz de proporcionar experiências teóricas e práticas sob o princípio da indissociabilidade que contribuem para o campo acadêmico e profissional. A avaliação no final do questionário reúne o ponto de vista de cada envolvido nos grupos PETs em todo o Brasil.

Risk variants in the apolipoprotein L1 (APOL1 [OMIM 603743]) gene on chromosome 22 are common in individuals of West African ancestry and confer increased risk of kidney failure for people with African ancestry and hypertension. Whether disclosing APOL1 genetic testing results to patients of African ancestry and their clinicians affects blood pressure, kidney disease screening, or patient behaviors is unknown.To determine the effects of testing and disclosing APOL1 genetic results to patients of African ancestry with hypertension and their clinicians.This pragmatic randomized clinical trial randomly assigned 2050 adults of African ancestry with hypertension and without existing chronic kidney disease in 2 US health care systems from November 1, 2014, through November 28, 2016; the final date of follow-up was January 16, 2018. Patients were randomly assigned to undergo immediate (intervention) or delayed (waiting list control group) APOL1 testing in a 7:1 ratio. Statistical analysis was performed from May 1, 2018, to July 31, 2020.Patients randomly assigned to the intervention group received APOL1 genetic testing results from trained staff; their clinicians received results through clinical decision support in electronic health records. Waiting list control patients received the results after their 12-month follow-up visit.Coprimary outcomes were the change in 3-month systolic blood pressure and 12-month urine kidney disease screening comparing intervention patients with high-risk APOL1 genotypes and those with low-risk APOL1 genotypes. Secondary outcomes compared these outcomes between intervention group patients with high-risk APOL1 genotypes and controls. Exploratory analyses included psychobehavioral factors.Among 2050 randomly assigned patients (1360 women [66%]; mean [SD] age, 53 [10] years), the baseline mean (SD) systolic blood pressure was significantly higher in patients with high-risk APOL1 genotypes vs those with low-risk APOL1 genotypes and controls (137 [21] vs 134 [19] vs 133 [19] mm Hg; P = .003 for high-risk vs low-risk APOL1 genotypes; P = .001 for high-risk APOL1 genotypes vs controls). At 3 months, the mean (SD) change in systolic blood pressure was significantly greater in patients with high-risk APOL1 genotypes vs those with low-risk APOL1 genotypes (6 [18] vs 3 [18] mm Hg; P = .004) and controls (6 [18] vs 3 [19] mm Hg; P = .01). At 12 months, there was a 12% increase in urine kidney disease testing among patients with high-risk APOL1 genotypes (from 39 of 234 [17%] to 68 of 234 [29%]) vs a 6% increase among those with low-risk APOL1 genotypes (from 278 of 1561 [18%] to 377 of 1561 [24%]; P = .10) and a 7% increase among controls (from 33 of 255 [13%] to 50 of 255 [20%]; P = .01). In response to testing, patients with high-risk APOL1 genotypes reported more changes in lifestyle (a subjective measure that included better dietary and exercise habits; 129 of 218 [59%] vs 547 of 1468 [37%]; P .001) and increased blood pressure medication use (21 of 218 [10%] vs 68 of 1468 [5%]; P = .005) vs those with low-risk APOL1 genotypes; 1631 of 1686 (97%) declared they would get tested again.In this randomized clinical trial, disclosing APOL1 genetic testing results to patients of African ancestry with hypertension and their clinicians was associated with a greater reduction in systolic blood pressure, increased kidney disease screening, and positive self-reported behavior changes in those with high-risk genotypes.ClinicalTrials.gov Identifier: NCT02234063.

Introduction: Hypoxic-ischemic encephalopathy(HIE) is a major cause of morbidity, mortality, and severe neurodevelopmental disability in term neonates. The development of a treatment strategy that could provide neuroprotection is still required. We have shown that agonism of endothelin B(ETB) receptors mediated through sovateltide provides neuroprotection and enhances neurovascular remodeling in several neuropathological conditions. Hypothesis: We hypothesize that administering sovateltide alone or as an adjuvant therapy with hypothermia could provide neuroprotection by reducing oxidative stress and promoting cell survival post-HIE brain injury. Methods: Sprague-Dawley male and female rat pups were grouped separately and were divided into 5 different subgroups (1) Control; (2) HIE+Vehicle; (3) HIE+Hypothermia; (4) HIE+sovateltide; and (5) HIE+sovateltide+hypothermia. HIE was induced by ligating the right carotid artery on a postnatal day (PND) 7, followed by hypoxia for 120 min and hypothermia (32-34°C) for 5 h. On PND 7, sovateltide (5 μg/kg, ICV) was injected after hypoxic-ischemic injury. Pups were euthanized on PND 10. Brains were isolated, and ETB receptors, VEGF, NGF, cell death and oxidative stress makers - malondialdehyde (MDA), glutathione (GSH), and superoxide dismutase (SOD) were assessed. Results: Animals receiving sovateltide showed a significant (p Conclusion: Sovateltide alone or as an adjunct to hypothermia exerts neuroprotective effects in HIE-induced brain injury in rat pups, suggesting sovateltide could be a potential therapeutic agent for neonatal HIE.

Aim: To increase Spanish speakers' representation in genomics research, accessible study materials on genetic topics must be made available in Spanish. Materials & methods: The Clinical Sequencing Evidence-Generating Research consortium is evaluating genome sequencing for underserved populations. All sites needed Spanish translation of recruitment materials, surveys and return of results. Results: We describe our process for translating site-specific materials, as well as shared measures across sites, to inform future efforts to engage Spanish speakers in research. Conclusion: In translating and adapting study materials for roughly 1000 Spanish speakers across the USA, and harmonizing translated measures across diverse sites, we overcame numerous challenges. Translation should be performed by professionals. Studies must allocate sufficient time, effort and budget to translate and adapt participant materials.

Therapeutic hypothermia with modest results is the only treatment currently available for neonatal Hypoxic ischemic encephalopathy (HIE). Endothelin B (ETB) receptors in the brain are shown to have neural restorative capacity. ETB receptors agonist sovateltide alone or as an adjuvant therapy may enhance neurovascular remodeling in HIE. Sprague-Dawley rat pups were grouped based on treatments into (1) Control; (2) HIE + Vehicle; (3) HIE + Hypothermia; (4) HIE + sovateltide; and (5) HIE + sovateltide + hypothermia. HIE was induced on postnatal day (PND) 7, followed by sovateltide (5 µg/kg) intracerebroventricular injection and/or hypothermia. On PND 10, brains were analyzed for the expression of vascular endothelial growth factor (VEGF), nerve growth factor (NGF), ETB receptors, oxidative stress and cellular damage markers. Vehicle-treated animals had high oxidative stress level as indicated by an increase in lipid peroxidation factor, malondialdehyde, and decreased antioxidants, reduced glutathione and superoxide dismutase, compared to control. These effects were reversed in sovateltide alone (p

This study investigated bidirectional associations between observed parent-youth coalitions-wherein one parent and a child align themselves against the other parent-and family hostilities as they evolved in real-time during triadic family conflict discussions. Participants were 102 families with an adolescent child (50% girls, MEn este estudio se investigaron las asociaciones bidireccionales entre las alianzas observadas entre padres y adolescentes -en las cuales un padre y un hijo se alinean contra el otro padre- y las hostilidades familiares a medida que se desarrollaban en tiempo real durante discusiones triádicas por conflictos familiares. Los participantes fueron 102 familias con un hijo adolescente (el 50% niñas, edad promedio = 15.3 años, desviación típica = 0.8). Utilizando modelos multinivel con tiempo de retardo, evaluamos las influencias inmediatas y temporales de la hostilidad (dentro de las relaciones conyugales y de las relaciones entre madre y adolescente y padre y adolescente) en las alianzas entre padres y adolescentes y viceversa. Guiados por las teorías de sensibilización, también investigamos si los antecedentes de agresión conyugal moderaron estas asociaciones. Los resultados indicaron varias asociaciones simultáneas que respaldaron la interconexión de las alianzas intergeneracionales y los intercambios agresivos y críticos dentro de las relaciones de varias familias. Además, los efectos asociados con el tiempo demostraron que la hostilidad dentro del área conyugal y de padres y adolescentes precedió a alianzas posteriores, y también que las alianzas precedieron a la hostilidad, particularmente en el área de padres y adolescentes. Los resultados también demostraron que la agresión conyugal modera las asociaciones temporales entre la hostilidad conyugal de los padres y las alianzas entre los padres y los jóvenes. Estos patrones destacan las asociaciones dinámicas entre las hostilidades y las alianzas, las maneras en la que dichos patrones se desbordan entre los subsistemas familiares, y cómo estas dos influencias insidiosas en las interacciones de los padres con sus hijos adolescentes pueden reforzarse mutuamente. Este estudio sirve como base para los esfuerzos de intervención, ya que identifica los patrones y las secuencias de las hostilidades familiares que rodean a las alianzas entre los padres y los adolescentes durante la adolescencia.

The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data, however, it is not yet clear which strategies are best suited for this purpose. In this study, we used implementation science to identify common strategies for applying provider-based CDS interventions across six genomic medicine clinical research projects funded by an NIH consortium. Each project’s strategies were elicited via a structured survey derived from a typology of implementation strategies, the Expert Recommendations for Implementing Change (ERIC), and follow-up interviews guided by both implementation strategy reporting criteria and a planning framework, RE-AIM, to obtain more detail about implementation strategies and desired outcomes. We found that, on average, the three pharmacogenomics implementation projects used more strategies than the disease-focused projects. Overall, projects had four implementation strategies in common, however, operationalization of each differed in accordance with each study’s implementation outcomes. These four common strategies may be important for precision medicine program implementation, and pharmacogenomics may require more integration into clinical care. Understanding how and why these strategies were successfully employed could be useful for others implementing genomic or precision medicine programs in different contexts.

The error-related negativity (ERN), a well-established neural marker of anxiety, reflects enhanced attention to internal threat signals. While attention to threat plays a crucial role in the development and maintenance of anxiety, it is unclear how attentional control influences the ERN-anxiety association. To address this, 37 youths (M(age) = 10.89 years) completed self-report measures of attentional control and anxiety symptoms. To obtain ERN amplitude, youth completed a flanker task while simultaneous EEG was collected. Attentional control, specifically attentional shifting rather than focusing, moderated the relation between ERN amplitude and anxiety. Youth who displayed smaller neural responses to making an error and higher ability to shift attention experienced lower levels of anxiety, relative to those who exhibited larger neural responses to making an error or lower attention-shifting ability. These findings highlight that response magnitude to internal threat and ability to flexibly shift attention may jointly contribute to anxiety in youth.

Objective: Report on the threshold between accessibility and lack of privacy for nurses based on experience in treating complex wounds in person with the help of telemedicine.

Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populations. The latter is a particularly pernicious problem due to the historical lack of inclusion of racially and ethnically diverse populations in genomic research and genomic medicine. A further challenge is the rapidly changing landscape of genetic tests and considerations of cost, interpretation, and diagnostic yield for emerging modalities like whole-genome sequencing. Methods The NYCKidSeq project is a randomized controlled trial recruiting 1130 children and young adults predominantly from Harlem and the Bronx with suspected genetic disorders in three disease categories: neurologic, cardiovascular, and immunologic. Two clinical genetic tests will be performed for each participant, either proband, duo, or trio whole-genome sequencing (depending on sample availability) and proband targeted gene panels. Clinical utility, cost, and diagnostic yield of both testing modalities will be assessed. This study will evaluate the use of a novel, digital platform (GUÍA) to digitize the return of genomic results experience and improve participant understanding for English- and Spanish-speaking families. Surveys will collect data at three study visits: baseline (0 months), result disclosure visit (ROR1, + 3 months), and follow-up visit (ROR2, + 9 months). Outcomes will assess parental understanding of and attitudes toward receiving genomic results for their child and behavioral, psychological, and social impact of results. We will also conduct a pilot study to assess a digital tool called GenomeDiver designed to enhance communication between clinicians and genetic testing labs. We will evaluate GenomeDiver’s ability to increase the diagnostic yield compared to standard practices, improve clinician’s ability to perform targeted reverse phenotyping, and increase the efficiency of genetic testing lab personnel. Discussion The NYCKidSeq project will contribute to the innovations and best practices in communicating genomic test results to diverse populations. This work will inform strategies for implementing genomic medicine in health systems serving diverse populations using methods that are clinically useful, technologically savvy, culturally sensitive, and ethically sound. Trial registration ClinicalTrials.govNCT03738098. Registered on November 13, 2018 Trial Sponsor: Icahn School of Medicine at Mount Sinai Contact Name: Eimear Kenny, PhD (Principal Investigator) Address: Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Pl., Box 1003, New York, NY 10029 Email: eimear.kenny@mssm.edu

Background Translating pharmacogenetic research findings that have shown clinical efficacy into sustainable, routine clinical care at the institutional level requires strong evidence of improved patient outcomes bolstered by equitable reimbursement and a sound financial analysis. Although extensive research on the clinical value of pharmacogenetics has been completed, adoption into clinical practice lags due to a lack of evidence of clinical effectiveness and limited reimbursement. Methods The Sustainability Working Group within the NHGRI IGNITE I Network conducted an online survey of funded and non-funded IGNITE members to determine which genes they are researching, which have been translated into clinical practice, and how tests are billed. Data from the online surveys was consolidated and analyzed with results being tabulated for key findings. Due to the limited sample size, statistical analysis was forgone and results should be considered directional in nature. Results Fifteen out of twenty (75%) online survey responses were received and analyzed from IGNITE member sites delivering clinical care. Forty different genes were identified as being used for either research or clinical care. Thirty-two different genes were reported as being used clinically, an average of 6.9 genes were reported per site. Twenty-two and twenty-one genes were reported as being billed to third party payers or patients respectively. Although the survey did not ask whether sites submitting for reimbursement received payment, Medicare and Medicaid only reimburse for 6 of the 40 (15%) genes being tested. Of the 40 genes, 18 are rated by CPIC as having A/B level of evidence with the remainder being rated as C/D or having no rating. Approximately 32% more A/B rated genes were being reported clinically than non-A/B. Conclusion Adoption of pharmacogenetic testing continues to lag even at sites where leading experts conduct research and have the capability to report tests clinically. Clinical research that supports CPIC A level of evidence is important for provider and payer support. Adoption of pharmacogentic testing must also be justified financially, reimbursement is one key factor, and more health economic studies are needed in order to capture the value created by preventing drug-gene adverse events, emergency room visits, and hospitalizations.

Introduction:Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential results, results interpretation and delivery require expertise and coordination across multiple medical specialties, clinical utility may be uncertain, and there may be broader familial or societal implications beyond the individual participant. Transdisciplinary consortia and collaborative team science are well poised to address these challenges. However, understanding the complex web of organizational, institutional, physical, environmental, technologic, and other political and societal factors that influence the effectiveness of consortia is understudied. We describe our experience working in the Clinical Sequencing Evidence-Generating Research (CSER) consortium, a multi-institutional translational genomics consortium.Methods:A key aspect of the CSER consortium was the juxtaposition of site-specific measures with the need to identify consensus measures related to clinical utility and to create a core set of harmonized measures. During this harmonization process, we sought to minimize participant burden, accommodate project-specific choices, and use validated measures that allow data sharing.Results:Identifying platforms to ensure swift communication between teams and management of materials and data were essential to our harmonization efforts. Funding agencies can help consortia by clarifying key study design elements across projects during the proposal preparation phase and by providing a framework for data sharing data across participating projects.Conclusions:In summary, time and resources must be devoted to developing and implementing collaborative practices as preparatory work at the beginning of project timelines to improve the effectiveness of research consortia.

Mirtazapine (MIRT) is a multi-target antidepressant used in treatment of severe depression with promising efficacy, but also with important side effects, mainly sedation and weight gain. Thus, the present study aimed to test the effects of the neuroprotective antioxidant lipoic acid (ALA) in the reversal of weight and metabolic changes induced by MIRT in corticosterone-induced depression model in mice, as well as proposed mechanisms for their association antidepressant and pro-cognitive effects. To do these male Swiss mice received Tween 80 (control), corticosterone (CORT 20 mg / kg), MIRT (3 mg / kg) and ALA (100 or 200 mg / kg), alone or associated for 21 days. After this, the animals were subjected to behavioral tests for affective and cognitive domains. Daily weight changes, blood cholesterol fractions and corticosterone were measured. Also, hippocampus (HC) protein expression of the serotonin transporter (SERT), synaptophysin, protein kinase B-Akt (total and phosphorylated) and the cytokines IL-4 and IL-6 were investigated. CORT induced a marked depression-like behavior, memory deficits, metabolic changes (total cholesterol and LDL) and increased serum corticosterone. Also, CORT increased SERT expression in the HC. MIRT alone or combined with ALA sustained its antidepressant-like effect, as well as reversed CORT-induced impairment in spatial recognition memory. Additionally, the association MIRT+ALA200 reversed the weight gain induced by the former antidepressant, as well as reduced serum corticosterone levels and SERT expression in the HC. ALA alone induced significant weight loss and reduced total cholesterol and HDL fraction. Our findings provide promising evidence about the ALA potential to prevent metabolic and weight changes associated to MIRT, without impair its antidepressant and pro-cognition actions. Therefore, ALA+MIRT combination could represent a new therapeutic strategy for treating depression with less side effects.

Electronic dating aggression among emerging adults is prevalent and has adverse consequences, yet factors that increase or decrease the risk for perpetrating electronic aggression against a romantic partner are understudied. This investigation advances the literature in two novel ways. First, based on intergenerational transmission of violence theories, we tested the link between family-of-origin aggression (FOA) history and electronic aggression toward romantic partners, using a diverse sample of emerging adults. Second, we examined whether perspective-taking and empathy each moderated the association between FOA and electronic dating aggression and explored the moderating role of gender. Participants included 359 undergraduate students (50% female; 42% White) from an urban university. Results indicated that greater FOA during childhood was associated with perpetrating greater electronic aggression against romantic partners. Furthermore, significant interactions indicated that perspective-taking and empathy separately buffered these associations. Youth from aggressive families did not exhibit increased electronic dating perpetration when they had higher perspective-taking or empathy. Males were especially sensitive to the protective effects of perspective-taking. Findings highlight potential points of intervention (i.e., cognitive and affective empathy training) to decrease electronic aggression in romantic relationships and break intergenerational cycles of aggression.

Objetivo: Relatar a experiência de acadêmicos de enfermagem durante a aplicação do processo de enfermagem a um recém-nascido com sífilis congênita. Relato de experiência: As aulas práticas hospitalares aconteceram em um serviço de referência de uma cidade da macrorregião no Centro-Sul piauiense, no segundo semestre de 2019. Dentre as atividades desenvolvidas na disciplina destaca-se o acompanhamento detalhado de um caso, de acordo com a sistematização da assistência de enfermagem. Foi implementado o processo de enfermagem, seguindo as cinco etapas, fazendo uso das taxonomias NANDA, NIC e NOC. O caso relatado trata-se da condição de Sífilis Congênita diagnosticada em uma recém-nascido, foram realizadas três visitas, para identificação, implementação, acompanhamento e avaliação dos cuidados de enfermagem. Considerações finais: A sistematização da assistência de enfermagem contribui de forma considerável na qualidade da assistência, permitindo a implementação e avaliação de intervenções nos indivíduos de forma integral. Os acadêmicos vivenciaram a aplicação do processo de enfermagem em indivíduos em situação de hospitalização, essas experiências contribuem diretamente na qualidade da formação desses profissionais.

Little is known about factors influencing adolescents' justice attitudes. This online study investigates perspective-taking and experiences with discrimination for their associations with adolescents' beliefs about how justice is best served. Participants included 179 ethnically/racially diverse high school students (Mage = 16.67 years; SD = 1.02). Higher perspective-taking was associated with less punitive and more restorative attitudes. Youth reporting more personal and ethnic/racial discrimination experiences endorsed more restorative justice attitudes. Perspective-taking also moderated the associations between reports of family, personal, and religious discrimination and punitive justice attitudes: adolescents reporting higher discrimination showed a stronger inverse relationship between perspective-taking and punitive attitudes. Findings have implications for school and community programs aiming to implement restorative policies, and for adolescents' civic participation.

In 2009, the city of Rio de Janeiro was announced as the host city of the 2016 Olympic Games (Rio 2016). For this event, the Brazilian government, in partnership with the International Olympic Committee (IOC), undertook the task of monitoring the air quality in the city. This study discusses the PM₁₀, PM₂.₅, and O₃ profiles at ten sampling sites located near the arenas in 2016, including during the Olympic Games period. At all sampling stations, the annual mean values of PM₁₀ and PM₂.₅ were below either Brazilian air quality standards or United States Environmental Protection Agency (U.S. EPA) guidelines. In addition, no violations lasting 24 h were observed for particulate matter in 2016. Only two ozone episodes occurred in 2016, both in Campos dos Afonsos (163 and 195 μg m⁻³) near the extreme sports arena. However, during the pre-Olympic period (2013–2015), in the same area were registered 16, 81, and 18 violations per year, respectively. The results showed an improvement in air quality in Rio de Janeiro in 2016. The reduction in pollutant levels, especially O₃ and PM₂.₅, is probably due to the conclusion of the structural construction of the Olympic arenas and efforts to improve urban mobility.

This paper describes the multilevel factors that contribute to hypertension disparities in 2052 hypertensive African Americans (mean age 52.9 ± 9.9 years; 66.3% female) who participated in a clinical trial. At the family level, participants reported average levels of life chaos and high social support. However, at the individual level, participants exhibited several adverse clinical and behavioral factors including poor blood pressure control (45% of population), obesity (61%), medication non-adherence (48%), smoking (32%), physical inactivity (45%), and poor diet (71%). While participants rated their provider as trustworthy, they reported high levels of discrimination in the health care system. Finally, community-level data indicate that participants reside in areas characterized by poor socio-economic and neighborhood conditions (eg, segregation). In the context of our trial, hypertensive African Americans exhibited several adverse risks and protective factors at multiple levels of influence. Future research should evaluate the impact of these factors on cardiovascular outcomes using a longitudinal design.

Em busca de crescimento industrial, o mercado lácteo busca inovações como a combinação de alimentos alternativos, resultando em novos produtos, que atualmente conquistam a aceitação dos consumidores. Nesse contexto objetivou-se a elaboração de um queijo Minas Padrão, onde houve adição do café na superfície dos queijos, durante o processo de maturação. O queijo foi submetido a quatro tratamentos com café e água (Q2: 180g p/3L; Q3: 210g p/3L; Q4: 240g p/3L; Q5: Borra 200g p/½L) e um controle (Q1), por um período de 4 dias com temperatura controlada (4°C ± 1). Após o período de imersão os queijos foram retirados dos tratamentos e a maturação mantida até completar 20 dias e, posteriormente, foram analisados sensorialmente por 80 consumidores que avaliaram a aceitação e a atitude de compra dos novos produtos. Fazendo uso de uma escala hedônica de 9 pontos os queijos apresentaram boa aceitação, sem diferença significativa (p< 0,05) para os atributos aroma, cor, consistência, sabor e aspecto global, exceto pela aparência, com índices de aceitabilidade (IA%) superior a 70 %, sendo o Q2 com as maiores aceitações. Utilizado uma escala de atitude de 5 pontos para avaliar a intenção de compra, não verificou-se diferenças significativas (p

In May 2018, there was a road freight transport standstill in Brazil that lasted 11 days. During this period, several impacts on Rio de Janeiro’s daily life were reported, such as the reduction of road passenger transport services and lack of fuels. This study aimed to evaluate the impact on the air quality of the metropolitan region of Rio de Janeiro (MRRJ) of the reduction of heavy-duty vehicles on the streets and roads. For this purpose, the reductions of PM10, NOx, SOx and CO emissions, due to low circulation of buses and trucks, were estimated in order to assess the levels of air pollution indirectly. Besides, air quality data (PM10, NO2, SO2, and CO) monitored before and during the strike were used. The results showed a reduction in total emissions of local air pollutants, harmful to human health from 22 % to 43 % during strike days. However, the air quality reflexes were not observed in the same proportion, on the contrary, increases were observed in pollutant concentrations in the atmosphere during traffic stoppage in the study areas, due to different weather conditions in the two periods, which directly influenced air pollutants dispersion.

Purpose African ancestry (AA) individuals are inadequately included in translational genomics research, limiting generalizability of findings and benefits of genomic discoveries for populations already facing disproportionately poor health outcomes. We aimed to determine the impact of stakeholder-engaged strategies on recruitment and retention oF.A.A adult patients into a clinical trial testing them for renal risk variants nearly exclusive to AAs. Methods Our academic–clinical–community team developed ten key strategies that recognize AAs' barriers and facilitators for participation. Using electronic health records (EHRs), we identified potentially eligible patients. Recruiters reached out through letters, phone calls, and at medical visits. Results Of 5481 AA patients reached, 51% were ineligible, 37% enrolled, 4% declined, 7% were undecided when enrollment finished. We retained 93% at 3-month and 88% at 12-month follow-up. Those enrolled are more likely female, seen at community sites, and reached through active strategies, than those who declined. Those retained are more likely female, health-literate, and older. While many patients have low income, low clinician trust, and perceive racism in health care, none of these attributes correlate with retention. Conclusion With robust stakeholder engagement, recruiters from patients' communities, and active approaches, we successfully recruited and retained AA patients into a genomic clinical trial.

This article addresses an innovative approach to connecting an urban university with the surrounding neighborhoods comprised of Latino immigrants, who represent potential new students or current students’ family members. The National Latino Research Center (NLRC) uses popular education, culturally informed, and linguistically relevant strategies to engage diverse Latino communities in the northern region of San Diego County in California. Methods of engaging the Latino community include cultivating long-term relationships, responding to time-sensitive community crises, facilitating inter-generational connections, presenting material in a culturally informed and relevant way, providing hands-on experiences with civic engagement, and growing partnerships within the university and among non-profits. Preliminary findings described a two-year study on civic engagement testing the effectiveness of a Spanish-language curriculum based on popular education offered (free) to members of urban and rural low-resourced Latino communities. The Center statistically correlated Latino community members’ experiential learning, participating in social media, and voting with gains in civic engagement knowledge.