Association of stress-related neural activity and baseline interleukin-6 plasma levels in healthy adults.

Several studies suggest a link between acute changes in inflammatory parameters due to an endotoxin or (psychological) stressor and the brain's stress response. The extent to which basal circulating levels of inflammatory markers are associated with the brain's stress response has been hardly investigated so far. In the present study, baseline plasma levels of the cytokine interleukin (IL)-6 were obtained and linked to neural markers of psychosocial stress using a modified version of the Montreal Imaging Stress Task in a sample of N = 65 healthy subjects (N = 39 female). Of three a-priori defined regions of interest - the amygdala, anterior insula, and anterior cingulate cortex - baseline IL-6 was significantly and negatively associated with stress-related neural activation in the right amygdala and left anterior insula. Our results suggest that baseline cytokines might be related to differences in the neural stress response and that this relationship could be inverse to that previously reported for induced acute changes in inflammation markers.

A Multi-center Genome-wide Association Study of Cervical Dystonia.

BACKGROUND: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility. OBJECTIVE: To identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome-wide approach. METHODS: We performed a genome-wide association study using cervical dystonia samples from the Dystonia Coalition. Logistic and linear regressions, including age, sex, and population structure as covariates, were employed to assess variant- and gene-based genetic associations with disease status and age at onset. We also performed a replication study for an identified genome-wide significant signal. RESULTS: After quality control, 919 cervical dystonia patients compared with 1491 controls of European ancestry were included in the analyses. We identified one genome-wide significant variant (rs2219975, chromosome 3, upstream of COL8A1, P-value 3.04 × 10-8 ). The association was not replicated in a newly genotyped sample of 473 cervical dystonia cases and 481 controls. Gene-based analysis identified DENND1A to be significantly associated with cervical dystonia (P-value 1.23 × 10-6 ). One low-frequency variant was associated with lower age-at-onset (16.4 ± 2.9 years, P-value = 3.07 × 10-8 , minor allele frequency = 0.01), located within the GABBR2 gene on chromosome 9 (rs147331823). CONCLUSION: The genetic underpinnings of cervical dystonia are complex and likely consist of multiple distinct variants of small effect sizes. Larger sample sizes may be needed to provide sufficient statistical power to address the presumably multi-genic etiology of cervical dystonia. © 2021 International Parkinson and Movement Disorder Society.

The experience of families in face of the finiteness of their children in the process of adopting palliative care.

OBJECTIVE: To reveal the experience of family members after learning their child would adopt palliative care. METHOD: Phenomenological research on Heidegger's perspective. The participants were eleven family members of children who were recommended palliative care in the Pediatric Intensive Care Unit from a university hospital in southern Brazil. The statements were obtained in a semi-structured interview, from January to November/2017, and submitted to Heidegger's theoretical-philosophical analysis. Research approved by the institution's Ethical Committee. RESULTS: The communication of palliative care triggers the perception of the child's existencial facticity in the Family, revealing reactions explained in the thematic dimensions: "Coping with the finiteness of the child when confronted with the proposal of adopting palliative care" and "The need for compassionate and attentive care". FINAL CONSIDERATIONS: Phenomenology allows us to understand the parent's existential purpose. An understanding perspective can help interdisciplinary teams to communicate the adoption of palliative care in a sensitive and ethical way, focusing on the best interest of the child.

Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.

Idiopathic Parkinson's disease (PD) is a complex multifactorial disorder caused by the interplay of both genetic and non-genetic risk factors. Polygenic risk scores (PRSs) are one way to aggregate the effects of a large number of genetic variants upon the risk for a disease like PD in a single quantity. However, reassessment of the performance of a given PRS in independent data sets is a precondition for establishing the PRS as a valid tool to this end. We studied a previously proposed PRS for PD in a separate genetic data set, comprising 1914 PD cases and 4464 controls, and were able to replicate its ability to differentiate between cases and controls. We also assessed theoretically the prognostic value of the PD-PRS, i.e., its ability to predict the development of PD in later life for healthy individuals. As it turned out, the PD-PRS alone can be expected to perform poorly in this regard. Therefore, we conclude that the PD-PRS could serve as an important research tool, but that meaningful PRS-based prognosis of PD at an individual level is not feasible.

The experience of families in face of the finiteness of their children in the process of adopting palliative care / Experiencias familiares ante la finitud del niño en el proceso de adopción de cuidados paliativos / Vivências de familiares diante da finitude da criança no processo de adoção de cuidados paliativos

ABSTRACT Objective: To reveal the experience of family members after learning their child would adopt palliative care. Method: Phenomenological research on Heidegger's perspective. The participants were eleven family members of children who were recommended palliative care in the Pediatric Intensive Care Unit from a university hospital in southern Brazil. The statements were obtained in a semi-structured interview, from January to November/2017, and submitted to Heidegger's theoretical-philosophical analysis. Research approved by the institution's Ethical Committee. Results: The communication of palliative care triggers the perception of the child's existencial facticity in the Family, revealing reactions explained in the thematic dimensions: "Coping with the finiteness of the child when confronted with the proposal of adopting palliative care" and "The need for compassionate and attentive care". Final considerations: Phenomenology allows us to understand the parent's existential purpose. An understanding perspective can help interdisciplinary teams to communicate the adoption of palliative care in a sensitive and ethical way, focusing on the best interest of the child.

RESUMEN Objetivo: Revelar la experiencia de familiares después de descubrir que sus niños serían sometidos a paliativos del niño. Método: Investigación fenomenológica em la perspectiva de Heidegger. Participaron once familiares de niños internados en Unidad de Cuidados Intensivos Pediátricos de hospital universitario del sur de Brasil con indicación de cuidados paliativos. Los discursos fueron obtenidos en entrevista semiestructurada, de enero a noviembre/2017, y sometidos al análisis teórico-filosófico Heideggeriano. Investigación aprobada por el Comité de Ética de la institución. Resultados: La comunicación de cuidados paliativos dispara la percepción de la facticidad existencial del niño en la Familia, revelando reacciones explicadas en las dimensiones temáticas: Enfrentando la finitud del niño frente a propuesta de cuidados paliativos y La necesidad de cuidado compasivo y solícito. Consideraciones finales: La fenomenología permite comprender el propósito existencial de los padres. La perspectiva integral puede ayudar el equipo a comunicar la adopción de cuidados paliativos, de una manera sensible y ética, centrándose en el interés superior del niño.

RESUMO Objetivo: Desvelar a vivência de familiares após notícia da adoção de cuidados paliativos para a criança. Método: Pesquisa fenomenológica na perspectiva de Heidegger. Participaram onze familiares de crianças na Unidade de Terapia Intensiva Pediátrica de hospital universitário do sul do Brasil com indicação de cuidados paliativos. Os depoimentos foram obtidos em entrevista semi-estruturada, de janeiro a novembro/2017, submetidos à análise teórico-filosófica de Heidegger. Pesquisa aprovada pelo Comitê de Ética da instituição. Resultados: A comunicação de cuidados paliativos desencadeia no familiar a percepção da facticidade existencial da criança, descortinando reações explicitadas nas dimensões temáticas: Enfrentando a finitude da criança diante da proposta de cuidados paliativos e Necessidade de cuidado compassivo e solícito. Considerações finais: A fenomenologia permitiu compreender o familiar em seu propósito existencial. A perspectiva compreensiva pode auxiliar a equipe interdisciplinar na comunicação da decisão de cuidados paliativos, de modo sensível e ético, focalizando o melhor interesse da criança.

Percepções e vivências da equipe de enfermagem frente ao paciente pediátrico em cuidados paliativos / Percepciones y experiencias del equipo de enfermería hacia el paciente pediátrico en cuidados paliativos / Perceptions and experiences of the nursing team before the pediatric patient in palliative care

RESUMO Introdução: a proposta dos Cuidados Paliativos é implementada para pacientes em situações de vulnerabilidade ante uma doença grave, limitante e que pode, inevitavelmente, se encaminhar para a terminalidade. Objetivo: conhecer as percepções e vivências dos profissionais de enfermagem frente ao cuidado à criança em cuidados paliativos em unidades pediátricas. Metodologia: estudo qualitativo, exploratório e descritivo, realizado em unidades pediátricas de um hospital universitário de grande porte do Sul do Brasil. Os dados foram obtidos mediante entrevistas semiestruturadas com nove participantes, enfermeiros e técnicos de enfermagem, submetidas à análise de conteúdo temática. Resultados: a partir da análise temática emergiram quatro temas: Criança em cuidados paliativos: olhar da enfermagem; Cuidado centrado na família; Vivências, sentimentos e percepções da equipe de enfermagem; e Enfrentamento da equipe de enfermagem: desafios para o cuidado. O estabelecimento dos princípios de cuidados paliativos pediátricos é fundamental para subsidiar o cuidado qualificado. Os profissionais de enfermagem revelam a necessidade de serem incluídos nas reuniões multidisciplinares realizadas para decidir condutas em relação ao paciente e sentem necessidade de apoio psicológico. Considerações finais: desvela-se a compreensão de que a filosofia de Cuidados Paliativos precisa ser ampliada para uma rede integrada de atenção e respeito às decisões para o final da vida.

RESUMEN Introducción: la propuesta de los Cuidados Paliativos es implementada para pacientes en situaciones de vulnerabilidad ante una enfermedad grave, limitante y que puede, inevitablemente, encaminarse para el fallecimiento. Objetivo: conocer las percepciones y experiencias de los profesionales de enfermería ante al cuidado al niño en cuidados paliativos en unidades pediátricas. Metodología: estudio cualitativo, exploratorio y descriptivo, realizado en unidades pediátricas de un hospital universitario de gran tamaño del Sur de Brasil. Los datos fueron obtenidos mediante entrevistas semiestructuradas con nueve participantes, enfermeros y técnicos de enfermería, sometidas al análisis de contenido temático. Resultados: a partir del análisis temático surgieron cuatro temas: Niño en cuidados paliativos: percepción de la enfermería; Cuidado centrado en la familia; Experiencias, sentimientos y percepciones del equipo de enfermería; y Enfrentamiento del equipo de enfermería: desafíos para el cuidado. El establecimiento de los principios de cuidados paliativos pediátricos es fundamental para fomentar el cuidado calificado. Los profesionales de enfermería revelan la necesidad de ser incluidos en las reuniones multidisciplinares realizadas para decidir conductas en relación al paciente y sienten la necesidad de apoyo psicológico. Consideraciones finales: se demuestra que la filosofía de Cuidados Paliativos necesita ser ampliada para una red integradora de atención y respeto a las decisiones para el final de la vida.

ABSTRACT Introduction: the proposal of Palliative Care is implemented for patients in situations of vulnerability to a serious, limiting disease that can inevitably lead to terminality. Objective: to know the perceptions and experiences of nursing professionals regarding the care of children in palliative care in pediatric units. Methodology: exploratory descriptive qualitative study conducted in pediatric units of a large university hospital in southern Brazil. Data were obtained through semi-structured interviews with nine participants, nurses and nursing technicians. Thematic content analysis was performed. Results: from the thematic analysis, four themes emerged: Child in palliative care: nursing view; Family-centered care; Experiences, feelings and perceptions of the nursing team; and Nursing team coping: challenges for care. The establishment of the principles of pediatric palliative care is fundamental to support qualified care. Nursing professionals reveal the need to be included in multidisciplinary meetings held to decide on conduct towards the patient, and feel the need for psychological support. Final considerations: the understanding that the philosophy of Palliative Care needs to be extended to an integrated network of care and respect for end-of-life decisions was revealed.

Percepções e vivências da equipe de enfermagem frente ao paciente pediátrico em cuidados paliativos / Perceptions and experiences of the nursing team before the pediatric patient in palliative care

Introduction:the proposal of Palliative Care is implemented for patients in situations of vulnerability to a serious, limiting disease that can inevitably lead to terminality. Objective: to know the perceptions and experiences of nursing professionals regarding the care of children in palliative care in pediatric units.Methodology:exploratory descriptive qualitative study conducted in pediatric units of a large university hospital in southern Brazil. Data were obtained through semi-structured interviews with nine participants, nurses and nursing technicians. Thematic content analysis was performed. Results: from the thematic analysis, four themes emerged: Child in palliative care: nursing view; Family-centered care; Experiences, feelings and perceptions of the nursing team; and Nursing team coping: challenges for care. The establishment of the principles of pediatric palliative care is fundamental to support qualified care. Nursing professionals reveal the need to be included in multidisciplinary meetings held to decide on conduct towards the patient, and feel the need for psychological support. Final considerations: the understanding that the philosophy of Palliative Care needs to be extended to an integrated network of care and respect for end-of-life decisions was revealed.

Introdução: a proposta dos Cuidados Paliativos é implementada para pacientes em situações de vulnerabilidade ante uma doença grave, limitante e que pode, inevitavelmente, se encaminhar para a terminalidade. Objetivo: conhecer as percepções e vivências dos profissionais de enfermagem frente ao cuidado à criança em cuidados paliativos em unidades pediátricas. Metodologia: estudo qualitativo, exploratório e descritivo, realizado em unidades pediátricas de um hospital universitário de grande porte do Sul do Brasil. Os dados foram obtidos mediante entrevistas semiestruturadas com nove participantes, enfermeiros e técnicos de enfermagem, submetidas à análise de conteúdo temática. Resultados: a partir da análise temática emergiram quatro temas: Criança em cuidados paliativos: olhar da enfermagem; Cuidado centrado na família; Vivências, sentimentos e percepções da equipe de enfermagem; e Enfrentamento da equipe de enfermagem: desafios para o cuidado. O estabelecimento dos princípios de cuidados paliativos pediátricos é fundamental para subsidiar o cuidado qualificado. Os profissionais de enfermagem revelam a necessidade de serem incluídos nas reuniões multidisciplinares realizadas para decidir condutas em relação ao paciente e sentem necessidade de apoio psicológico. Considerações finais: desvela-se a compreensão de que a filosofia de Cuidados Paliativos precisa ser ampliada para uma rede integrada de atenção e respeito às decisões para o final da vida.