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1.
JMIR Res Protoc ; 12: e43756, 2023 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-36693628

RESUMO

BACKGROUND: Death of a child in the pediatric intensive care unit is a rare event that can occur after failed cardiopulmonary resuscitation efforts, after a brain death diagnosis, or after a decision to limit therapeutic efforts. Nevertheless, even in the case of children with terminal and progressive illnesses, death is a crisis that comes as a surprise to parents and is perceived as unexpected. In the final stage of a child's life, health care staff play a key role in sharing feelings and experiences with the family and in supporting them throughout the process in order to facilitate the grieving process. OBJECTIVE: The aim of this study is to explore the experiences of parents whose children have died in a pediatric intensive care unit. METHODS: To address the study aims, a qualitative phenomenological study based on the van Manen proposal will be carried out. The study will be conducted in the pediatric intensive care unit of a tertiary care hospital. The study population will be parents or guardians (older than 18 years) of children who have died in the unit at least 6 months prior to potential participation in the study. Purposive sampling will be used to ensure sample diversity in relation to experiential variables. Families will be initially contacted by letter sent alongside the standard letter of condolences from the hospital, and then recruited in a subsequent telephone call. The sample size will be determined by data saturation. In-depth interviews will be conducted individually or in pairs. Parents will decide when, how, and where to conduct the interviews, which will be transcribed verbatim and examined using thematic discourse analysis. RESULTS: This study was awarded a grant in December 2020 and was approved by the Medical and Health Research Ethics Committee on December 21, 2020. Data collection started in April 2021, and the results are expected to be published in 2023. CONCLUSIONS: This project is intended to maintain, strengthen, and build on a particular line of research on end-of-life care with a focus on effective coping, spiritual well-being, and the adaptive grieving process. The results will contribute to establishing action guidelines that are both based on the discourses of parents who have experienced the death of a child and geared toward high-quality end-of-life care through dignified death and adaptive grief management. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/43756.

2.
BMJ Lead ; 6(3): 186-191, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-36170481

RESUMO

AIM: To explore the views of an international sample of nursing and midwifery managers concerning attributes that they associate with compassionate management. METHOD: A cross-sectional online survey. Using a snowballing sampling method, 1217 responses were collected from nursing and midwifery managers in 17 countries. A total of complete 933 responses to a question related to which actions and behaviours indicated that a manager was exercising compassionate leadership were analysed for this paper. First, content analysis of the responses was conducted, and second, a relative distribution of the identified themes for the overall sample and for each participating country was calculated. RESULTS: Six main themes were identified describing the attributes of a compassionate leader: (1) Virtuous support, (2) Communication, (3) Personal virtues of the manager, (4) Participatory communication, (5) Growth/flourishing/ nurturing and (6) Team cohesion. The first three themes mentioned above collectively accounted for 63% of the responses, and can therefore be considered to be the most important characteristics of compassionate management behaviour. CONCLUSION: The key indicators of compassionate management in nursing and midwifery which were identified emphasise approachability, active and sensitive listening, sympathetic responses to staff members' difficulties (especially concerning child and other caring responsibilities), active support of and advocacy for the staff team and active problem solving and conflict resolution. While there were differences between the countries' views on compassionate healthcare management, some themes were widely represented among different countries' responses, which suggest key indicators of compassionate management that apply across cultures.


Assuntos
Liderança , Tocologia , Estudos Transversais , Empatia , Feminino , Humanos , Gravidez , Inquéritos e Questionários
3.
Rev Panam Salud Publica ; 46: e27, 2022.
Artigo em Espanhol | MEDLINE | ID: mdl-35432499

RESUMO

Objective: Identify mechanisms reported in primary health care (PHC) interventions in rural and marginal urban populations from 1997 to 2019. Methods: A scoping review was used to identify the literature. The literature search was conducted using the Medline (PubMed and Ovid), Global Health, Embase, Web of Science, Scopus, and Lilacs databases. Inclusion criteria considered literature on primary intervention and observational studies using qualitative, quantitative, or mixed methods. Articles in English, Portuguese, and Spanish published from 1997 to 2019 were included. Rayyan QCRI was used for definitive document selection; sources of information from gray literature or research in progress were excluded. Results: At the individual level, three groups of mechanisms were identified: levels of relationships between interventions and subjects, transformations that can occur in individuals, and reciprocal relationships. At the institutional level, mechanisms were related to temporality, money, power relations, trust relations, the health system, expectations, and administrative conditions. Conclusions: Individual mechanisms are similar in different contexts. Institutional mechanisms are susceptible to variations in context and are expressed in terms of temporality, economic resources, power and trust relations, the health system, expectations, and administrative conditions.


Objetivo: Identificar os mecanismos relatados nas intervenções de atenção primária à saúde (APS) em populações rurais e urbanas periféricas entre 1997 e 2019. Métodos: Foi utilizado o método de revisão sistemática exploratória para identificar a literatura. A busca bibliográfica foi feita nas bases de dados Medline (Pubmed e Ovid), Global Health, Embase, Web of Science, Scopus e Lilacs. A inclusão da literatura considerou estudos de intervenção primária, observacionais, com metodologias qualitativas, quantitativas ou mistas. Foram incluídos artigos em inglês, português e espanhol publicados entre 1997 e 2019. Para a seleção dos documentos definitivos foi utilizado o Rayyan QCRI e foram excluídas fontes de informação da literatura cinzenta ou de pesquisas em andamento. Resultados: No nível individual, foram identificados três grupos de mecanismos: níveis de relações entre as intervenções e os sujeitos, transformações que podem ocorrer nos indivíduos e relações recíprocas. No nível institucional, se relacionaram a temporalidade, dinheiro, relações de poder, relações de confiança, sistema de saúde, expectativas e condições administrativas. Conclusões: Os mecanismos individuais são semelhantes nos diferentes contextos. Os mecanismos institucionais são suscetíveis à variação do contexto e estão representados na temporalidade, nos recursos econômicos, nas relações de poder e confiança, no sistema de saúde, nas expectativas e nas condições administrativas.

4.
Rev. panam. salud pública ; 46: e27, 2022. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1431969

RESUMO

RESUMEN Objetivo. Identificar los mecanismos reportados en intervenciones de atención primaria en salud (APS) en poblaciones rurales y urbanas marginales entre los años 1997 y 2019. Métodos. Se utilizó el método de revisión sistemática exploratoria para identificar la literatura. La búsqueda de literatura fue realizada en las bases de datos Medline (Pubmed y Ovid), Global health, Embase, Web of science, Scopus y Lilacs. La inclusión de literatura consideró estudios de intervención primaria, observacionales con metodologías cualitativas, cuantitativas o mixtas. Se incluyeron artículos en inglés, portugués y español publicados entre 1997 y 2019. Para la selección de documentos definitivos se utilizó Rayyan QCRI, se excluyeron fuentes de información de literatura gris o investigación en progreso. Resultados. A nivel individual se identificaron tres grupos de mecanismos: niveles de relaciones entre las intervenciones y los sujetos, transformaciones que pueden generar en los individuos y las relaciones recíprocas. A nivel institucional se relacionaron con la temporalidad, el dinero, relaciones de poder, relaciones de confianza, el sistema de salud, las expectativas y las condiciones administrativas. Conclusiones. Los mecanismos individuales son similares en los diferentes contextos, los mecanismos institucionales son susceptibles a la variación del contexto, se representan en la temporalidad, recursos económicos, relaciones de poder y de confianza, el sistema de salud, las expectativas y condiciones administrativas.


ABSTRACT Objective. Identify mechanisms reported in primary health care (PHC) interventions in rural and marginal urban populations from 1997 to 2019. Methods. A scoping review was used to identify the literature. The literature search was conducted using the Medline (PubMed and Ovid), Global Health, Embase, Web of Science, Scopus, and Lilacs databases. Inclusion criteria considered literature on primary intervention and observational studies using qualitative, quantitative, or mixed methods. Articles in English, Portuguese, and Spanish published from 1997 to 2019 were included. Rayyan QCRI was used for definitive document selection; sources of information from gray literature or research in progress were excluded. Results. At the individual level, three groups of mechanisms were identified: levels of relationships between interventions and subjects, transformations that can occur in individuals, and reciprocal relationships. At the institutional level, mechanisms were related to temporality, money, power relations, trust relations, the health system, expectations, and administrative conditions. Conclusions. Individual mechanisms are similar in different contexts. Institutional mechanisms are susceptible to variations in context and are expressed in terms of temporality, economic resources, power and trust relations, the health system, expectations, and administrative conditions.


RESUMO Objetivo. Identificar os mecanismos relatados nas intervenções de atenção primária à saúde (APS) em populações rurais e urbanas periféricas entre 1997 e 2019. Métodos. Foi utilizado o método de revisão sistemática exploratória para identificar a literatura. A busca bibliográfica foi feita nas bases de dados Medline (Pubmed e Ovid), Global Health, Embase, Web of Science, Scopus e Lilacs. A inclusão da literatura considerou estudos de intervenção primária, observacionais, com metodologias qualitativas, quantitativas ou mistas. Foram incluídos artigos em inglês, português e espanhol publicados entre 1997 e 2019. Para a seleção dos documentos definitivos foi utilizado o Rayyan QCRI e foram excluídas fontes de informação da literatura cinzenta ou de pesquisas em andamento. Resultados. No nível individual, foram identificados três grupos de mecanismos: níveis de relações entre as intervenções e os sujeitos, transformações que podem ocorrer nos indivíduos e relações recíprocas. No nível institucional, se relacionaram a temporalidade, dinheiro, relações de poder, relações de confiança, sistema de saúde, expectativas e condições administrativas. Conclusões. Os mecanismos individuais são semelhantes nos diferentes contextos. Os mecanismos institucionais são suscetíveis à variação do contexto e estão representados na temporalidade, nos recursos econômicos, nas relações de poder e confiança, no sistema de saúde, nas expectativas e nas condições administrativas.

5.
Artigo em Inglês | MEDLINE | ID: mdl-34831583

RESUMO

AIM: The general aim of this study was to explore the decision-making process followed by Intensive Care Unit (ICU) health professionals with respect to physical restraint (PR) administration and management, along with the factors that influence it. METHOD: A qual-quant multimethod design was sequenced in two stages: an initial stage following a qualitative methodology; and second, quantitative with a predominant descriptive approach. The multicenter study was undertaken at 17 ICUs belonging to 11 public hospitals in the Madrid region (Spain) across the period 2015 through 2019. The qualitative stage was performed from an interpretative phenomenological perspective. A total of eight discussion groups (DG) were held, with the participation of 23 nurses, 12 patient care nursing assistants, and seven physicians. Intentional purposive sampling was carried out. DG were tape-recorded and transcribed. A thematic analysis of the latent content was performed. In the quantitative stage, we maintained a 96-h observation period at each ICU. Variables pertaining to general descriptive elements of each ICU, institutional pain-agitation/sedation-delirium (PAD) monitoring policies and elements linked to quality of PR use were recorded. A descriptive analysis was performed, and the relationship between the variables was analyzed. The level of significance was set at p ≤ 0.05. FINDINGS: A total of 1070 patients were observed, amounting to a median prevalence of PR use of 19.11% (min: 0%-max: 44.44%). The differences observed between ICUs could be explained by a difference in restraint conceptualization. The various actors involved jointly build up a health care culture and a conceptualization of the terms "safety-risk", which determine decision-making about the use of restraints at each ICU. These shared meanings are the germ of beliefs, values, and rituals which, in this case, determine the greater or lesser use of restraints. There were different profiles of PR use among the units studied: preventive restraints versus "Zero" restraints. The differences corresponded to aspects such as: systematic use of tools for assessment of PAD; interpretation of patient behavior; the decision-making process, the significance attributed to patient safety and restraints; and the feelings generated by PR use. The restraint-free model requires an approach to safety from a holistic perspective, with the involvement of all team members and the family.


Assuntos
Médicos , Restrição Física , Humanos , Unidades de Terapia Intensiva , Espanha
6.
BMC Womens Health ; 21(1): 216, 2021 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-34022870

RESUMO

BACKGROUND: Violence against women places them in a vulnerable position with regard to homelessness. Although sometimes invisible, women's homelessness is a complex reality shrouded in dramatic biographies that should be sensitively addressed to avoid revictimization. METHODS: With the aim of understanding the chaotic discourse of homeless women's experiences of violence, a qualitative single-case study was conducted using the photo-elicitation technique. Data were analyzed in accordance with grounded theory. RESULTS: The participant's discourse could be summarized in the following categories: "Living in a spiral of violence", "Confronting vulnerability and violence", "Being a strong woman", "New family networks", "Re-building mother-child relationships", and "Nurturing spiritual wellbeing". CONCLUSIONS: Supporting homelessness women requires an approach that focuses on the prevention of re-victimization and the consequences of violence in terms of physical and mental health. Shelters are spaces of care for recovery and represent referential elements for the re-construction of self.


Assuntos
Vítimas de Crime , Pessoas Mal Alojadas , Criança , Feminino , Humanos , Saúde Mental , Problemas Sociais , Violência
7.
J Transcult Nurs ; 32(6): 765-777, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33899614

RESUMO

INTRODUCTION: Despite the importance of compassionate leadership in health care, many of the existing publications do not account for the effect of culture. The aim of this study is to explore the views of nursing and midwifery managers from different countries in relation to the definition, advantages, and importance of compassion. METHODOLOGY: A cross-sectional, descriptive, exploratory online survey was conducted across 17 countries, containing both closed and open-ended questions. Data from N = 1,217 respondents were analyzed using a directed hybrid approach focusing only on qualitative questions related to compassion-giving. RESULTS: Four overarching themes capture the study's results: (1) definition of compassion, (2) advantages and importance of compassion for managers, (3) advantages and importance of compassion for staff and the workplace, and (4) culturally competent and compassionate leadership. DISCUSSION: Innovative research agendas should pursue further local qualitative empirical research to inform models of culturally competent and compassionate leadership helping mangers navigate multiple pressures and be able to transculturally resonate with their staff and patients.


Assuntos
Empatia , Tocologia , Estudos Transversais , Atenção à Saúde , Feminino , Humanos , Liderança , Gravidez
9.
Intensive Crit Care Nurs ; 62: 102966, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33172732

RESUMO

BACKGROUND: The COVID-19 pandemic is a public health challenge that puts health systems in a highly vulnerable situation. Nurses in critical care units (CCUs) and hospital emergency services (HESs) have provided care to patients with COVID-19 under pressure and uncertainty. OBJECTIVE: To identify needs related to safety, organisation, decision-making, communication and psycho-socio-emotional needs perceived by critical care and emergency nurses in the region of Madrid, Spain, during the acute phase of the epidemic crisis. METHODS: This is a cross-sectional study (the first phase of a mixed methods study) with critical care and emergency nurses from 26 public hospitals in Madrid using an online questionnaire. RESULTS: The response rate was 557, with 37.5% reporting working with the fear of becoming infected and its consequences, 28.2% reported elevated workloads, high patient-nurse ratios and shifts that did not allow them to disconnect or rest, while taking on more responsibilities when managing patients with COVID-19 (23.9%). They also reported deficiencies in communication with middle management (21.2%), inability to provide psycho-social care to patients and families and being emotionally exhausted (53.5%), with difficulty in venting emotions (44.9%). CONCLUSIONS: Critical care and emegency nurses may be categorised as a vulnerable population. It is thus necessary to delve deeper into further aspects of their experiences of the pandemic.


Assuntos
Atitude do Pessoal de Saúde , Esgotamento Profissional/psicologia , COVID-19/enfermagem , Enfermagem de Cuidados Críticos , Enfermagem em Emergência , Enfermeiras e Enfermeiros , Carga de Trabalho , Adulto , Comunicação , Cuidados Críticos , Estudos Transversais , Atenção à Saúde , Serviço Hospitalar de Emergência , Família , Feminino , Administradores Hospitalares , Hospitais Públicos , Humanos , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Avaliação das Necessidades , Enfermeiros Administradores , Enfermeiras e Enfermeiros/psicologia , Gestão de Recursos Humanos , Descanso/psicologia , SARS-CoV-2 , Espanha , Adulto Jovem
11.
Rev. Fac. Odontol. Univ. Antioq ; 31(1): 91-101, July-Dec. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1115193

RESUMO

Abstract Introduction: the PICO mnemonic is an evidence-based medicine tool that helps formulate the research questions needed to conduct the right search for scientific information. To properly classify this information, controlled languages or thesauruses are used for information retrieval. The aim was to identify whether the PICO search strategy in evidence-based medicine using the MeSH, Emtree and DeCS thesauruses answers a research question in the field of dentistry. Methods: to carry out the PICO strategy, a research question was formulated, identifying the natural language terms for each component of the PICO acronym, which were normalized into the three thesauruses to create the search equations. Results: 43 results were found on Medline through PubMed, 5 on Embase, and 0 on LILACS. There were 4 original articles that answer the research question, proving to be an effective strategy for finding clinical evidence. Conclusion: this study shows that the strategy helps obtain results to answer the question posed. It should be noted that, in order to successfully search and retrieve information, researchers should use the PICO strategy and get familiar with the thesauruses that help structure search equations in the various bibliographic databases.


Resumen Introducción: la mnemotecnia PICO es una herramienta de la medicina basada en la evidencia que facilita la formulación de preguntas de investigación necesarias para realizar una correcta búsqueda de información científica. Para clasificar adecuadamente esta información se utilizan lenguajes controlados o tesauros que permiten ubicar dicha información. El objetivo del presente estudio consistió en identificar si la estrategia de búsqueda PICO de la medicina basada en la evidencia, utilizando los tesauros MeSH, Emtree y DeCS, responde a una pregunta de investigación en el campo de la odontología. Métodos: para llevar a cabo la estrategia PICO, se elaboró una pregunta de investigación, se identificaron los términos en lenguaje natural para cada componente del acrónimo PICO, posteriormente se normalizaron en los tres tesauros y se construyeron las ecuaciones de búsqueda. Resultados: se encontraron 43 resultados en Medline a través de la plataforma PubMed, 5 en Embase y 0 en LILACS. Se identificaron 4 artículos originales que responden la pregunta de investigación, demostrando ser una estrategia eficaz para la búsqueda de evidencia clínica. Conclusión: el ejercicio realizado en el presente trabajo logró demostrar que la estrategia permite obtener resultados que responden a la pregunta planteada. Cabe resaltar que, para tener éxito en la búsqueda y obtención de información, los investigadores deberían utilizar la estrategia PICO y conocer los diferentes tesauros que facilitan la construcción de las ecuaciones de búsqueda en las diferentes bases de datos bibliográficas.


Assuntos
Odontologia Baseada em Evidências
12.
PLoS One ; 14(4): e0214503, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30939151

RESUMO

The validation of Five Facets Mindfulness Questionnaire (FFMQ)-short version was performed in a general population of a city in a region of Galicia (Spain), the sample was composed of randomly selected Spanish Health Care patients (N = 845). The results on the goodness of fit of the non-hierarchical, five-dimensional factorial model met the criteria for good and acceptable model adjustment (after eliminating item 18 and despite the correlations detected among the errors included in the model), explaining a 55.5%.of the variance. As the second objective has been analysed the association between the scores obtained in the different facets of the FFMQ-SF and the risk of suffering an episode of depression. (The Odd Ratio, the Hosmer-Lemeshow test and the ROC curve were calculated.) Participants who were currently suffering from an episode of depression were more likely to have low scores in "describing" facet of Mindfulness (adjusted OR = 1.58, 95% CI = 1.04-2.40, linear trend: χ2 = 3.74, df = 1, p = 0.053) as well as low scores on "acting with awareness" (adjusted OR = 2.19, 95% CI = 1.461-3.30, linear trend: χ2 = 9.52, df = 1; = 0.002) and "non judging" (adjusted OR = 2.05, 95% CI = 1.36-3.09, linear trend: χ2 = 143.21, df = 1; p <0.001). Participants with a previous episode of depression were more likely to have low scores on the subscale "acting with awareness" (adjusted OR = 2.37, 95% CI = 1.43-3.93, linear trend: χ2 = 9.62, df = 1, p = 0.002) and "non-reactivity" (adjusted OR = 2.14, 95% CI = 1.28-3.56, linear trend: χ2 = 8.30; df = 1; p = 0.004. Questionnaire FFMQ-SF is an adequate questionnaire for the evaluation of mindfulness in non-clinical multi- occupational population.


Assuntos
Depressão/diagnóstico , Atenção Plena , Psicometria/métodos , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Conscientização , Análise Fatorial , Feminino , Humanos , Idioma , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Razão de Chances , Curva ROC , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Espanha , Adulto Jovem
13.
Intensive Crit Care Nurs ; 44: 110-114, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28869145

RESUMO

Delirium represents a serious problem that impacts the physical and cognitive prognosis of patients admitted to intensive care units and requires prompt diagnosis and management. This article describes the case and progress of a patient placed on Extracorporeal Membrane Oxygenation with difficult sedation criteria and an early diagnosis of mixed delirium. During the case report, we reflect on the pharmacological and non-pharmacological strategies employed to cope with delirium paying special attention to the non-use of physical restraint measures in order to preserve vital support devices (endotracheal tube or Extracorporeal Membrane Oxygenation cannula). The multimodal and multidisciplinary approach, focused on nursing interventions, strict Pain/Agitation/Delirium monitoring and pharmacological measures, as well as the implementation of measures according to the eCASH (early Comfort using Analgesia, minimal Sedatives and maximal Human Care) concept, were effective, resulting in a relatively short admission considering the severity of the patient's condition and the associated complications. Early independent ambulation was achieved prior to transfer to a hospitalisation unit.


Assuntos
Sedação Profunda/métodos , Delírio/diagnóstico , Delírio/enfermagem , Oxigenação por Membrana Extracorpórea/efeitos adversos , Hipnóticos e Sedativos/farmacologia , Sedação Profunda/enfermagem , Delírio/classificação , Nutrição Enteral/métodos , Oxigenação por Membrana Extracorpórea/psicologia , Humanos , Hipnóticos e Sedativos/uso terapêutico , Unidades de Terapia Intensiva/organização & administração , Masculino , Pessoa de Meia-Idade , Manejo da Dor/métodos , Manejo da Dor/normas , Conforto do Paciente/métodos , Estimulação Luminosa/métodos
14.
Rev. Fac. Med. (Bogotá) ; 64(1): 159-164, ene.-mar. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-779679

RESUMO

Antecedentes. La distrofia muscular cintura-cadera tipo 1B es una enfermedad con herencia autosómica dominante y secundaria a una mutación en el gen LMNA. Esta enfermedad se caracteriza por su afectación a nivel neuromuscular y cardiaco. Objetivo. Realizar diagnóstico clínico y confirmatorio molecular en una paciente con debilidad muscular proximal y sintomatología cardíaca a través de secuenciación exómica. Materiales y métodos. Se presenta el caso de una paciente de 57 años de edad con cuadro de debilidad muscular proximal progresiva principalmente en extremidades y posterior afectación cardíaca; adicionalmente, la paciente tiene múltiples familiares con la misma sintomatología. Se realizó estudio de secuenciación exómica con confirmación, por método de Sanger, de la mutación hallada y posteriormente el análisis bioinformático de esta. Resultados. La detección de la mutación R377L en el gen LMNA por secuenciación exómica con confirmación por Sanger, junto con la sintomatología clínica de la paciente y el análisis bioinformático de la mutación hallada, permitió realizar diagnóstico confirmatorio de distrofia muscular cintura-cadera tipo 1B. Conclusión. Es difícil realizar un diagnóstico clínico debido a la heterogeneidad genética del fenotipo de distrofias musculares cintura-cadera. La aproximación diagnóstica es compleja y requiere clasificar las distrofias musculares según el patrón de afectación y el patrón de herencia de la enfermedad. Adicionalmente, debido a los múltiples genes que pueden generar clínica semejante a las diferentes distrofias musculares, se recomienda realizar secuenciación exómica solicitando especial énfasis en los genes candidatos de distrofias musculares cintura-cadera.


Background. Limb-girdle muscular dystrophy type 1B has a dominant autosomal inheritance pattern and is caused by a mutation in the LMNA gene. This disease has a major neuromuscular and cardiac compromise; furthermore, it belongs to the limb-girdle muscular dystrophies. Objective. To make a clinical and molecular confirmatory diagnosis in a patient with proximal muscular weakness and cardiac symptoms using whole exome sequencing. Materials and Methods. This is the case of a 57 year old patient with a slowly progressive proximal muscular weakness and cardiac compromise; furthermore, the patient has many relatives with the same clinical history. Whole exome sequencing with Sanger confirmation and bioinformatics analysis was performed on the found mutation. Results. The detection of mutation R377L in the LMNA gen by whole exome sequencing with Sanger confirmation, the bioinformatic analysis of the mutation and the symptoms exhibited by the patient allowed the confirmatory diagnosis of limb-girdle muscular dystrophy type 1b. Conclusion. Due to genetic heterogeneity in the phenotype of limb-girdle muscular dystrophies it is difficult to make a clinical diagnosis. The diagnostic approach is complex and requires classification of the muscular dystrophies according to the pattern of muscular weakness and to identify the disease inheritance pattern. Additionally, due to the multiple genes that can generate similar symptoms in the different muscular dystrophies, the authors recommend the use of whole exome sequencing with a special emphasis on the candidate genes for limb-girdle muscular dystrophies.

15.
Anesth Analg ; 119(4): 815-828, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25036372

RESUMO

BACKGROUND: Lung resection surgery is associated with an inflammatory reaction. The use of 1-lung ventilation (OLV) seems to increase the likelihood of this reaction. Different prophylactic and therapeutic measures have been investigated to prevent lung injury secondary to OLV. Lidocaine, a commonly used local anesthetic drug, has antiinflammatory activity. Our main goal in this study was to investigate the effect of IV lidocaine on tumor necrosis factor α (TNF-α) lung expression during lung resection surgery with OLV. METHODS: Eighteen pigs underwent left caudal lobectomy. The animals were divided into 3 groups: control, lidocaine, and sham. All animals received general anesthesia. In addition, animals in the lidocaine group received a continuous IV infusion of lidocaine during surgery (1.5 mg/kg/h). Animals in the sham group only underwent thoracotomy. Samples of bronchoalveolar lavage (BAL) fluid and plasma were collected before initiation of OLV, at the end of OLV, at the end of surgery, and 24 hours after surgery. Lung biopsy specimens were collected from the left caudal lobe (baseline) before surgery and from the mediastinal lobe and the left cranial lobe 24 hours after surgery. Samples were flash-frozen and stored to measure levels of the following inflammatory markers: interleukin (IL) 1ß, IL-2, IL-10, TNF-α, nuclear factor κB, monocyte chemoattractant protein-1, inducible nitric oxide synthase, and endothelial nitric oxide synthase. Markers of apoptosis (caspase 3, caspase 9, Bad, Bax, and Bcl-2) were also measured. In addition, levels of metalloproteinases and nitric oxide metabolites were determined in BAL fluid and in plasma samples. A nonparametric test was used to examine statistical significance. RESULTS: OLV caused lung damage with increased TNF-α expression in BAL, plasma, and lung samples. Other inflammatory (IL-1ß, nuclear factor κB, monocyte chemoattractant protein-1) and apoptosis (caspase 3, caspase 9, and BAX) markers were also increased. With the use of IV lidocaine there was a significant decrease in the levels of TNF-α in the same samples compared with the control group. Lidocaine administration also reduced the inflammatory and apoptotic changes observed in the control group. Hemodynamic values, blood gas values, and airway pressure were similar in all groups. CONCLUSIONS: Our results suggest that lidocaine can prevent OLV-induced lung injury through reduced expression of proinflammatory cytokines and lung apoptosis. Administration of lidocaine may help to prevent lung injury during lung surgery with OLV.


Assuntos
Anestésicos Locais/administração & dosagem , Regulação da Expressão Gênica , Lidocaína/administração & dosagem , Pulmão/metabolismo , Pulmão/cirurgia , Fator de Necrose Tumoral alfa/biossíntese , Animais , Infusões Intravenosas , Pulmão/efeitos dos fármacos , Distribuição Aleatória , Suínos , Fator de Necrose Tumoral alfa/antagonistas & inibidores
17.
J Clin Endocrinol Metab ; 98(4): 1718-25, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23463658

RESUMO

CONTEXT: Cinacalcet induces immediate changes in serum PTH levels, but the pharmacodynamic effect throughout the daily dosing interval in controlled patients is unknown. Also, in patients with reduced PTH, it is unknown what happens in the first 24 hours after withdrawal. OBJECTIVE: Our aim was to describe the effect over 48 hours of cinacalcet in hemodialysis patients with controlled secondary hyperparathyroidism. DESIGN: This was a phase 4, open-label, single-arm, single-dose, single-center clinical trial. SETTING: The study was conducted at a public hospital (Hospital Perpetuo Socorro, Alicante, Spain). PATIENTS: We included 10 patients on cinacalcet for 6 months or longer with intact PTH (iPTH) levels 100-400 pg/mL [8 men, mean age of 66 years (range 39-82 years)], chronically treated with 30 mg (n = 6), 60 mg (n = 3), or 90 mg (n = 1) of cinacalcet. INTERVENTION: A single dose (30-90 mg) was administered at baseline. MAIN OUTCOME MEASURES: iPTH (Duo Kit Scantibodies and Elecsys Roche), PTH 1-84, ionized calcium, phosphorus (P), and calcitonin were determined at baseline and at 1, 3, 6, 12, 24, and 48 hours. RESULTS: There was a significant reduction in iPTH between 1 and 6 hours, and values returned to baseline at 24 hours [maximum mean (95% confidence interval) percent change from baseline: -50%(-34; -66) at 3 hours]. A transient increase in calcitonin and a decrease in P were also observed, with no changes in calcium. At 48 hours, there was a significant increase in iPTH [+51% (26; 76)] and P. Changes in PTH were similar with the 3 determination methods. CONCLUSIONS: In hemodialysis patients with secondary hyperparathyroidism controlled by cinacalcet, a transient (1-6 hours) reduction in PTH and P and an increase in calcitonin are observed after each daily dose, with return to baseline at 24 hours. After calcimimetics discontinuation, PTH was significantly increased at 48 hours. The assay used to measure PTH does not influence relative changes induced by cinacalcet.


Assuntos
Hiperparatireoidismo Secundário/metabolismo , Naftalenos/farmacocinética , Adulto , Idoso , Idoso de 80 Anos ou mais , Calcimiméticos/administração & dosagem , Calcimiméticos/farmacocinética , Cinacalcete , Esquema de Medicação , Feminino , Humanos , Hiperparatireoidismo Secundário/sangue , Hiperparatireoidismo Secundário/tratamento farmacológico , Hiperparatireoidismo Secundário/terapia , Masculino , Pessoa de Meia-Idade , Naftalenos/administração & dosagem , Hormônio Paratireóideo/sangue , Prática Profissional , Diálise Renal , Fatores de Tempo
18.
J Nephrol ; 23(5): 525-34, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20119931

RESUMO

OBJECTIVE: Few studies have investigated nonadherence to phosphate binders. The aim of this study was to evaluate the degree of adherence of our hemodialysis (HD) patients to phosphate binders and to determine which variables were related to nonadherence to treatment. METHODS: In 165 HD patients, the degree of adherence to the drugs prescribed was studied using the Simplified Medication Adherence Questionnaire. RESULTS: Of patients, 40% were nonadherent. Specific nonadherence to phosphate binder and hypotensive medication was admitted by 21% and 13% of patients, respectively. Nonadherent patients had significantly higher mean serum phosphorus (P) (4.7 ± 0.9 mg/dL vs. 4.4 ± 0.7 mg/dL; p=0.007) and potassium levels (6.3 ± 4.4 mEq/L vs. 5.3 ± 1.4 mEq/L; p=0.04). There was a statistically significant association between mean P levels >5.5 mg/dL in the last 6 months and nonadherence to treatment (X2=4.8; 95% confidence interval [95% CI], 1.0-6.6; p=0.02). No relationship was found between patients with blood pressure levels >140/90 mm Hg and nonadherence to hypotensive medication (X2=0.02; 95% CI, 0.2-4.1; p=0.88). Patients specifically nonadherent to phosphate binders were more likely to have P levels >5.5 mg/dL (X2=4.7; 95% CI, 1.07-6.5; p=0.03). No statistically significant association was found between patients noncompliant with hypotensive agents and those noncompliant with phosphate binders (X2=0.39; 95% CI, 0.4-4.7; p=0.53). There were no significant differences between adherent and nonadherent patients in terms of age, time on hemodialysis, Charlson Comorbidity Index, number of drugs prescribed and number of tablets per day (p>0.05). CONCLUSION: Nonadherence to pharmacological treatment in dialysis patients is high. Nonadherence to phosphate binders was greater than for hypotensive agents, did not coexist in the same patients and had a greater impact on target achievement.


Assuntos
Adesão à Medicação , Fósforo/metabolismo , Diálise Renal , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
19.
J Nephrol ; 20(3): 304-10, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17557263

RESUMO

BACKGROUND: A significant percentage of patients on hemodialysis (HD) present with affective disorders such as anxiety and/or depression. The purpose of this study was to explore adaptive mixed affective disorders of patients on HD and to analyze the clinical value of a brief health-related quality-of-life (HRQoL) instrument, the COOP-WONCA charts, in our population of HD patient. METHODS: Seventy-five patients (mean age 49.2 years; range 20.1-64.9), who had been on HD for a mean 110 months (range 6.1-364.5 months) were studied. The Beck Depression Inventory (BDI), Hamilton Scale of Depression (HDRS) and Hamilton Scale of Anxiety (HARS) were used. To evaluate patient HRQoL, we used the validated Spanish version of the COOP-WONCA charts. RESULTS: Of the 75 patients studied, 44.0% (BDI) and 53.4% (HDRS) had some depressive symptoms which were moderate-severe in 14.7% (BDI) and in 22.7% (HDRS). Anxiety symptoms were observed in 46.6% of the patients (13.3% were of moderate-severe degree). There was a high level of association between both depression scales (BDI and HDRS) (r=0.70; p<0.001), as well as between both scales and the HARS (HDRS, r=0.82; p<0.001; BDI, r=0.53; p<0.001). The most affected dimensions of the COOP-WONCA charts were "Physical fitness" and "Overall health," whereas the least affected were "Social activities" and "Daily activities." The global score of the COOP-WONCA charts was associated with the presence of depressive (BDI, r=0.64, and HDRS, r=0.75; p<0.001) and anxiety symptoms (HARS, r=0.52; p<0.001). A score of >or= 3 corresponding to the dimension "Feelings" on the COOP-WONCA charts allowed the detection of 81.8% of the patients with clinically significant depressive symptoms (BDI >18), with a sensitivity of 96.8% and a specificity of 75% for this cutoff point. CONCLUSIONS: A high percentage of patients on HD present with mixed emotional disorders (anxiety and/or depression); a good correlation is observed between HRQoL and the levels of anxiety and depression in these patients; and measuring HRQoL with the COOP-WONCA charts may help diagnose such problems.


Assuntos
Qualidade de Vida , Diálise Renal/psicologia , Estresse Psicológico/diagnóstico , Inquéritos e Questionários , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estresse Psicológico/epidemiologia
20.
Nephrol Dial Transplant ; 22(6): 1639-44, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17277339

RESUMO

BACKGROUND: The purpose of the present study was to evaluate the impact of cinacalcet administration on the attainment of Kidney Disease Outcomes Quality Initiative of the National Kidney Foundation (NFK-K/DOQI) targets, in a group of dialysis patients with secondary hyperparathyroidism that were not controlled with vitamin D metabolites due to inadequate elevations in serum calcium and/or phosphorus. METHODS: Twenty-eight patients undergoing haemodialysis that presented secondary hyperparathyroidism (PTH > 300 pg/ml) with difficulty to use vitamin D either because of hypercalcaemia (>10.2 mg/dl) and/or hyperphosphoraemia (>5.5 mg/dl) were included in this study. The follow-up period was 9 months before and after the introduction of cinacalcet. We started by adding 30 mg of cinacalcet orally once daily to their previous vitamin D metabolite treatment. The following variables were calculated and recorded: the mean of all measurements of serum Ca, P and parathyroid hormones (PTH), and Ca x P in each patient; calcium in dialysate (mEq/l); doses of vitamin D administered; doses of cinacalcet used, and the average prescription of calcium-based phosphate binders, sevelamer hydrochloride and aluminum binders, corresponding to two periods according to the introduction of cinacalcet. The proportions of patients with different serum Ca levels as well as serum P levels; serum PTH levels and CaxP at the beginning and at the end of the nine month period of treatment with cinacalcet were calculated. RESULTS: Serum PTH (826.9 +/- 325 vs 248.1 +/- 77.3, P < 0.001), serum calcium (9.9 +/- 0.6 vs 8.6 +/- 0.4, P < 0.001) and the Ca x P product (94.7 +/- 7.3 vs 43.6 +/- 8.5; P < 0.001) diminished significantly whereas serum phosphorus remained unchanged (4.8 +/- 1.5 vs 4.3 +/- 1.1; P = NS). Before cinacalcet, 23 patients had severe hyperparathyroidism (serum PTH > 500) and 15 patients hypercalcaemia (serum calcium >10.2 mg/dl). After 9 months of treatment, all 28 patients showed serum PTH < 500 pg/ml and serum calcium <10.2 mg/dl; 64.7% of the patients achieved Ca, P, Ca x P and PTH objectives simultaneously. While the mean dose of cinacalcet increased along the 9 months of treatment (P < 0.001), there were no significant changes in vitamin D metabolites (P = 0.5), neither in the mean doses of calcium-containing agents, nor in the mean prescribed doses of sevelamer (P < 0.01), and aluminium-containing agents diminished significantly (P < 0.05). CONCLUSIONS: In summary, the combination of cinacalcet and low doses of vitamin D improved significantly the control of PTH and Ca x P in patients with severe secondary hyperparathyroidism on chronic haemodialysis, without adverse effects and with lower doses of phosphate binders.


Assuntos
Doenças Ósseas Metabólicas/tratamento farmacológico , Osso e Ossos/metabolismo , Nefropatias/tratamento farmacológico , Naftalenos/uso terapêutico , Guias de Prática Clínica como Assunto , Diálise Renal/normas , Doenças Ósseas Metabólicas/metabolismo , Doença Crônica , Cinacalcete , Feminino , Humanos , Hiperparatireoidismo/tratamento farmacológico , Hiperparatireoidismo/terapia , Masculino , Pessoa de Meia-Idade , Vitamina D/uso terapêutico
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