Palliative medicine family conferences and caregiver psychological distress during prolonged mechanical ventilation

Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.We read with great interest the recent paper ‘Palliative medicine family conferences and caregiver psychological distress during prolonged mechanical ventilation’.1 It explored caregiver perspectives on the role of palliative care and quality of dying and death (QODD) after prolonged mechanical ventilation, to understand the psychological symptoms of caregivers. Several studies have shown that the primary caregiver and other family members of critically ill patients experience significant psychological and physical issues.2 For this reason, effective communication with patients and their family caregivers is central to high-quality palliative care. However, it appears that most family conferences occur without any protocol or formal structure. The absence of a framework in family conferences results in a greater risk of missed opportunities to provide medical information and appropriate support for family caregivers.3 The diversity of patient and family caregiver reactions to end-of-life issues can be understood (from a psychological standpoint) based on a transactional model of coping, where cognitive assessments help establish the possible effect of a potentially stressful event. This model has been widely used in other interventions that help family caregivers feel more trained and better informed about assisting a dying relative …info:eu-repo/semantics/publishedVersio

Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.info:eu-repo/semantics/publishedVersio

Editorial: Social cognition and mental health among children and youth

This editorial comment on 'Social cognition and mental health among children and youth' aims to provide a forum to improve research in this field and its contribution to health psychology, the understanding of risk and protective factors, and the exploration of innovative psychosocial interventions to benefit children and youth's health and wellbeing. People's feelings and social experiences are very influenced by their social, cultural, educational and autobiographical contexts

Avaliação do impacte de fogos florestais em recursos hídricos subterrâneos

Comunicação apresentada no Seminário sobre Águas Subterrâneas, organizado pela Associação Portuguesa de Recursos Hídricos, que decorreu de 1 a 2 de Março de 2007 em Lisboa.Apresentam-se os objectivos, as tarefas e os primeiros resultados obtidos do Projecto actualmente em curso “Avaliação do impacte de fogos florestais nos recursos hídricos subterrâneos” (POCI/AGR/59180/2004). Os objectivos principais deste Projecto são estudar o impacte dos fogos nas quantidades de água envolvidas nos diversos processos do ciclo hidrológico e estudar o impacte das substâncias poluentes existentes nas cinzas florestais, no solo e no meio hídrico subterrâneo. Criou-se uma rede de monitorização da piezometria e da qualidade da água, e seleccionaram-se pontos de amostragem de solos e de cinzas em quatro áreas ardidas e não ardidas no concelho de Mação, para caracterizar e avaliar a influência que os fogos florestais têm na potencial degradação das Associação Portuguesa dos Recursos Hídricos 2 águas de superfície e subterrâneas. As áreas seleccionadas foram: bacia do Caratão, bacia do Carvoeiro, Bacia da Quebrada e Penhascoso. Para estas áreas estuda-se o coberto vegetal, os solos, a hidrogeologia, o clima e as condições de escoamento. Tem sido feita a monitorização dos níveis de água em furos e poços, assim como a amostragem de água para análise físico-química dos iões maiores e dos hidrocarbonetos aromáticos policíclicos (HAP). Para os solos, cinzas e lixiviados são analisados os seguintes elementos: Al, Ca, Fe, K, Na, Mg, Cd, Cu, Cr, Mn, Ni, Pb, Zn, Hg, S, C, H, N, e HAP. Para as bacias do Caratão e do Carvoeiro foi feito o inventário fitosociológico, comportando os aspectos fisiográficos, de geologia, de hidrologia e de vegetação (considerando 23 espécies), tendo-se desenvolvido a análise estatística dos dados, e foi feita a caracterização pedológica quanto aos parâmetros pH, matéria orgânica, P e K. Nas mesmas bacias foi feita a recolha de material vegetal para incineração em instalação de combustão, existindo já resultados analíticos para cinzas de arbustos e respectivos lixiviados

Encerramento Percutâneo de um Volumoso Pseudoaneurisma da Aorta Ascendente

Pseudoaneurysm of the ascending aorta is a rare complication, usually after thoracic surgery or trauma. Since surgical repair is associated with very high morbidity and mortality, percutaneous closure has been described as an alternative. In this regard, we present a case in which a symptomatic large pseudoaneurysm of the ascending aorta was treated percutaneously due to the high surgical risk. Despite the technical difficulties, this procedure had a good final result followed by clinical success.info:eu-repo/semantics/publishedVersio

Desenvolvimento de uma metodologia para avaliação de impactos qualitativos dos fogos nas águas subterrâneas : aplicação aos casos de estudo do Vale de Manteigas e de Mação

No Projecto POCI/AGR/59180/2004, concluído em 2009 (cf. Lobo-Ferreira et al., 2009), apresenta-se uma metodologia para avaliação quantitativa dos impactos dos fogos florestais na quantidade e qualidade das águas superficiais e subterrâneas. Nesta metodologia procura-se avaliar as alterações que possam ter ocorrido após o fogo: (A) em volumes de recarga, (B) volumes de escoamento superficial, (C) qualidade das águas superficiais e subterrâneas. Esta metodologia considera: (1) tipo e densidade de coberto vegetal à data do incêndio; (2) tipos de poluentes que podem ser libertados pelas diferentes comunidades vegetais afectadas pelo fogo; (3) extensão e volume do aquífero e sua porosidade eficaz, para aferir dos volumes de reservas de água; (4) recarga média anual; (5) tempo de permanência das águas no sistema subterrâneo. Para a avaliação do tipo e densidade de coberto vegetal e consequente biomassa combustível à data do incêndio usou-se a inventariação fitossociológica, cartografia da vegetação, análise estatística multivariada e estimativa da biomassa florestal ardida, realizada pelo Instituto Politécnico de Castelo Branco-Escola Superior Agrária. Os tipos e cargas poluentes libertados calcularam-se com base nos valores de biomassa ardida e estudos (realizados por INETI – Departamento de Engenharia Energética e Controlo Ambiental) de cinzas de ensaios de combustão de espécies florestais e arbustivas representativas do coberto vegetal ardido, e ensaios de lixiviação de solos e cinzas. A avaliação das variações na recarga baseou-se na informação recolhida nos estudos quantitativos realizados na bacia de Manteigas, associada a modelos hidrológicos conceptuais e cenários de variação de escoamento e evapotranspiração quando a informação não era suficiente para colmatar as lacunas de conhecimento. Com base na biomassa ardida, características composicionais das suas cinzas e potenciais de lixiviação, calculou-se a quantidade e tipo de poluentes em fase sólida e dissolvida passíveis de entrar nas águas superficiais e subterrânea. As características hidráulicas dos meios geológicos afectados deram os volumes de armazenamento e as prováveis velocidades de circulação nestes materiais, o que serviu para prever espaços temporais de contaminação da área. Da avaliação dos volumes de carga poluente calculados e dos dados de campo de decaimento destas cargas poluentes nas águas superficiais e subterrâneas em zonas de coberto vegetal similar estabeleceram-se cenários possíveis do tempo de desaparição do poluente na área ardida. Nesta comunicação realçam-se os aspectos relacionados com a qualidade das águas subterrâneas

Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

Background: Genetic heterogeneity and compound heterozygosis give rise to a continuous spectrum of phenylalanine hydroxylase deficiency and metabolic phenotypes in phenylketonuria (PKU). The most used parameters for evaluating phenotype in PKU are pretreatment phenylalanine (Phe) levels, tolerance for dietary Phe, and Phe overloading test. Phenotype can vary from a "classic" (severe) form to mild hyperphenylalaninemia, which does not require dietary treatment. A subset of patients is responsive to treatment by the cofactor tetrahydrobiopterin (BH4 ). Genotypes of PKU patients from Rio de Janeiro, Brazil, were compared to predicted and observed phenotypes. Genotype-based estimations of responsiveness to BH4 were also conducted. Methods: Phenotype was defined by pretreatment Phe levels. A standard prediction system based on arbitrary assigned values was employed to measure genotype-phenotype concordance. Patients were also estimated as BH4 -responders according to the responsiveness previously reported for their mutations and genotypes. Results: A 48.3% concordance rate between genotype-predicted and observed phenotypes was found. When the predicted phenotypes included those reported at the BIOPKU database, the concordance rate reached 77%. A total of 18 genotypes from 30 patients (29.4%) were estimated as of potential or probable BH4 responsiveness. Inconsistencies were observed in genotypic combinations including the common "moderate" mutations p.R261Q, p.V388M, and p.I65T and the mild mutations p.L48S, p.R68S, and p.L249F. Conclusion: The high discordance rate between genotype-predicted and observed metabolic phenotypes in this study seems to be due partially to the high frequency of the so-called "moderate" common mutations, p.R261Q, p.V388M, and p.I65T, which are reported to be associated to erratic or more severe than expected metabolic phenotypes. Although our results of BH4 estimated responsiveness must be regarded as tentative, it should be emphasized that genotyping and genotype-phenotype association studies are important in selecting patients to be offered a BH4 overload test, especially in low-resource settings like Brazil.Dr. Vieira Neto reports two public grants from Coordination for the Improvement of Higher Level Personnel (Capes) of the Ministry of Education, Brazil, and private grants from FBM Pharmaceutical Industry Ltd., Anápolis, Goiás, Brazil, and from Danone Ltd., São Paulo, Brazil, during the conduct of the study.info:eu-repo/semantics/publishedVersio

SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?

Unlike most lysosomal proteins, β-glucocerebrosidase (GCase), the hydrolase defective in Gaucher disease (GD), is delivered to lysosomes through its interaction with the transmembrane protein LIMP2. A few years ago, mutations in its coding gene, SCARB2, were reported to modify the severity of GD phenotype. The existence of a great variety of GD phenotypes is well-known, with numerous patients who carry identical genotypes presenting remarkable phenotypic variability. Over the years, that variability has been attributed to other genetic, epigenetic and/or environmental factors. Still, there is still much to learn on this subject. Recently, an association between Parkinson's disease (PD) and the presence of mutations in the GBA gene has been demonstrated. Moreover, there are also studies suggesting that genetic variants in the SCARB2 gene may also be risk factors for PD. We analysed the SCARB2 gene in the Portuguese cohort of 91 GD patients, having identified 3 different SCARB2 coding variants. Of those, 2 were known polymorphisms with high prevalence in the normal population (p.M159V and p.V396I) and the third was a novel coding variant, p.T398M, present in heterozigousity in a single patient. Our study demonstrated that, at least for the Portuguese population, genetic variability at SCARB2 does not account much to the GD phenotypic spectrum. Nevertheless, in vitro analyses of the novel p.T398M are envisaged, in order to further characterize the effect of this variant on the levels and sub-cellular location of GCase. The clinical presentation of the patient harbouring this coding variant will also be discussed.FCT PTDC/SAU-GMG/102889/2008; SFRH/BD/124372/2016N/