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1. Acolhimento com classificação de risco em serviço de emergência na perspectiva do idoso

Author: Fundo de Incentivo à Pesquisa e Eventos (FIPE) do Hospital de Clínicas de Porto Alegre (HCPA), Furquim Gonçalves, Ana Valéria; Hospital de Clínicas de Porto Alegre (HCPA), Becker Kottwitz Bierhals, Carla Cristiane; Universidade Federal do Rio Grande do Sul (UFRGS), Manganelli Girardi Paskulin, Lisiane; Universidade Federal do Rio Grande do Sul (UFRGS), Fundo de Incentivo à Pesquisa e Eventos (FIPE) do Hospital de Clínicas de Porto Alegre (HCPA), Furquim Gonçalves, Ana Valéria; Hospital de Clínicas de Porto Alegre (HCPA), Becker Kottwitz Bierhals, Carla Cristiane; Universidade Federal do Rio Grande do Sul (UFRGS), and Manganelli Girardi Paskulin, Lisiane; Universidade Federal do Rio Grande do Sul (UFRGS)
Abstract: Objetivo: Avaliar as práticas de Acolhimento na Classificação de Risco do Serviço de Emergência do Hospital de Clínicas de Porto Alegre na perspectiva do idoso.Métodos: Pesquisa qualitativa do tipo estudo de caso, realizada com 30 idosos, por meio de entrevista semiestruturada, no período de julho a novembro de 2010. As informações foram analisadas por análise temática com apoio do software Nvivo.Resultados: As respostas centraram-se no tempo de atendimento e no processo de trabalho. A prática do acolhimento com classificação de risco melhorou o processo de trabalho e destacou a atuação do enfermeiro de modo direto com o usuário.Considerações finais: O atendimento de necessidades do idoso, o respeito ao tempo previsto pelo protocolo e o trabalho em rede interna e externa podem ser melhorados a fim de qualificar a atenção a esses usuários.Palavras-chave: Acolhimento. Enfermagem geriátrica. Serviço hospitalar de emergência. Enfermagem. Idoso.
Published: 2015

2. Ecocardiografia em pacientes com apneia do sono grave com e sem pressão arterial controlada: Estudo transversal

Author: Martinez, Denis; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil. Serviço de Cardiologia, Hospital de Clínicas de Porto Alegre (HCPA), RS, Brasil. Programa de Pós Graduação em Medicina: Ciências da Médicas, UFRGS, Porto Alegre, RS, Brasil., Pedroso, Martina Madalena; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., Montanari, Carolina Caruccio; Programa de Pós Graduação em Medicina: Ciências da Médicas, UFRGS, Porto Alegre, RS, Brasil., Fagundes, Micheli; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., da Silva, Roberto Pacheco; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., Fiori, Cintia Zappe; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., Martinez, Denis; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil. Serviço de Cardiologia, Hospital de Clínicas de Porto Alegre (HCPA), RS, Brasil. Programa de Pós Graduação em Medicina: Ciências da Médicas, UFRGS, Porto Alegre, RS, Brasil., Pedroso, Martina Madalena; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., Montanari, Carolina Caruccio; Programa de Pós Graduação em Medicina: Ciências da Médicas, UFRGS, Porto Alegre, RS, Brasil., Fagundes, Micheli; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., da Silva, Roberto Pacheco; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil., and Fiori, Cintia Zappe; Programa de Pós Graduação em Ciências da Saúde: Cardiologia e Ciências Cardiovasculares, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil.
Abstract: Introdução: A apneia obstrutiva do sono (AOS) afeta a anatomia e função do coração. Ocorre hipertensão arterial em metade dos casos de AOS, dificultando atribuir a etiologia dessas alterações separadamente à hipertensão arterial ou à apneia do sono.Métodos: Estudo transversal de pacientes com índice de apneia-hipopneia maior que 50 eventos por hora. As variáveis ecocardiográficas comparadas em indivíduos com hipertensão arterial controlada e não controlada foram: 1) fração de ejeção, 2) diâmetro da aorta, 3) diâmetro do átrio esquerdo, 4) diâmetro de ventrículo direito, 5) diâmetros do ventrículo esquerdo diastólico e sistólico, 6) percentagem delta, 7) espessura do septo, 8) espessura da parede posterior.Resultados: Foram incluídos 83 voluntários, 50 com pressão arterial não controlada. Em média, a idade era 47±9,5 anos, o índice de massa corporal 34±5,4 Kg/m2, o índice de apneia-hipopneia 86±18 eventos/hora. Sessenta pacientes apresentaram anormalidade no ecocardiograma. A hipertrofia de ventrículo esquerdo foi o achado mais comum, sem diferença de frequência em controles (39%) e em hipertensos (48%), seguida por disfunção diastólica em controles (27%) e em hipertensos (32%).Conclusões: Indivíduos com apneia do sono grave e pressão arterial controlada apresentam alterações no ecocardiograma de tipo e frequência semelhantes aos com hipertensão não controlada. Isso sugere que a apneia do sono pode causar dano cardíaco independentemente de hipertensão. Quando não explicáveis por hipertensão arterial, achados como hipertrofia de ventrículo esquerdo podem ser provocados por apneia do sono. Introduction: Obstructive sleep apnea (OSA) affects the cardiac anatomy and function. Hypertension occurs in half the OSA cases, making it difficult to attribute the cause of these changes separately to arterial hypertension or sleep apnea.Methods: Prospective cross-sectional study of volunteers with apnea-hypopnea index >50 events per hour. The echocardiographic variables were a
Published: 2016

3. Percepção de enfermeiros sobre utilização do protocolo do sistema de classificação de risco manchester/ Nurses’ perception on the use of the manchester risk classification system protocol

Author: Bohn, Marcia Luciane da Silva; Enfermeira, Residente em Adulto Crítico - Residência Integrada Multiprofissional em Saúde do Hospital de Clínicas de Porto Alegre (HCPA), RS., Lima, Maria Alice Dias da Silva, Duro, Carmen Lúcia Mottin, Abreu, Kelly Piacheski de, Bohn, Marcia Luciane da Silva; Enfermeira, Residente em Adulto Crítico - Residência Integrada Multiprofissional em Saúde do Hospital de Clínicas de Porto Alegre (HCPA), RS., Lima, Maria Alice Dias da Silva, Duro, Carmen Lúcia Mottin, and Abreu, Kelly Piacheski de
Abstract: O estudo teve como objetivo analisar a percepção de enfermeiros sobre o protocolo do sistema de Classificação de Risco Manchester. Pesquisa qualitativa descritiva, realizada em outubro de 2012, por meio de entrevistas semiestruturadas com 15 enfermeiros do Serviço de Emergência de um hospital universitário da região sul do Brasil. Os dados foram submetidos à análise temática. Os resultados indicam que o protocolo do Sistema de Classificação de risco de Manchester padroniza a conduta dos profissionais, conferindo segurança para priorizar o risco de usuários que buscam atendimento em serviços de emergência. Além disso, propicia respaldo legal aos profissionais, baseando-se em critérios objetivos e previamente definidos. As dificuldades apontadas para a realização da atividade foram: o desconhecimento da população sobre o protocolo, a precariedade do fluxo de encaminhamento para a rede de serviços de saúde e a resistência da equipe médica a um trabalho conjunto. Conclui-se que a utilização do protocolo do sistema de classificação de Manchester propiciou melhoria na organização do fluxo de usuários no serviço de emergência e na qualidade do atendimento prestado.
Published: 2015

4. ADAPTAÇÃO TRANSCULTURAL E VALIDAÇÃO DE UM QUESTIONÁRIO DE CONHECIMENTO SOBRE INSUFICIÊNCIA CARDÍACA PARA ENFERMEIROS

Author: Klein, Cristini; Hospital de Clínicas de Porto Alegre, Linch, Graciele Fernanda da Costa; Universidade Federal do Rio Grande do Sul, Souza, Emiliane Nogueira de; Universidade Federal de Ciências da Saúde de Porto Alegre- RS, Brasil., Mantovani, Vanessa Monteiro; Universidade Federal do Rio Grande do Sul, Goldmeier, Silvia; Professora do Pós-Graduação Lato Sensu em Enfermagem em Cardiologia - Instituto de Cardiologia - Fundação Universitária de Cardiologia., Rabelo, Eneida Rejane; Universidade Federal do Rio Grande do Sul - Escola de Enfermagem e Hospital de Clínicas de Porto Alegre - HCPA, RS, Klein, Cristini; Hospital de Clínicas de Porto Alegre, Linch, Graciele Fernanda da Costa; Universidade Federal do Rio Grande do Sul, Souza, Emiliane Nogueira de; Universidade Federal de Ciências da Saúde de Porto Alegre- RS, Brasil., Mantovani, Vanessa Monteiro; Universidade Federal do Rio Grande do Sul, Goldmeier, Silvia; Professora do Pós-Graduação Lato Sensu em Enfermagem em Cardiologia - Instituto de Cardiologia - Fundação Universitária de Cardiologia., and Rabelo, Eneida Rejane; Universidade Federal do Rio Grande do Sul - Escola de Enfermagem e Hospital de Clínicas de Porto Alegre - HCPA, RS
Abstract: Estudo com objetivo de realizar a adaptação transcultural, assim como verificar a validade de conteúdo e a estabilidadedo Nurses’ Knowledge of Heart Failure Education Principles para avaliar o conhecimento de enfermeirosbrasileiros sobre insuficiência cardíaca. O processo de adaptação transcultural constituiu-se da tradução, síntese,retrotradução, revisão por um comitê e pré-teste. Foram avaliadas as propriedades psicométricas: validade deconteúdo (face), fidedignidade por meio da consistência interna (Alfa de Cronbach) e estabilidade (CoeficienteKappa). Após adaptação transcultural, o instrumento foi aplicado a 54 enfermeiros (27 de um hospital especializadoem cardiologia e 27 de hospital geral). O Alfa de Cronbach foi de 0,7. As questões de números 4, 5 e 11 apresentaramcoeficiente Kappa inferior ou igual a 0,4, e as demais questões apresentaram Kappa superior ou igual a 0,7.Este questionário foi validado e mostrou-se adequado para avaliar o conhecimento desse grupo de profissionais.
Published: 2012

5. Acolhimento dos alunos do curso de medicina: um relato de experiência

Author: FIPE/HCPA, Clausell, Nadine; Faculdade de Medicina/UFRGS Hospital de Clínicas de Porto Alegre/HCPA, Goldim, José Roberto; Hospital de Clínicas de Porto Alegre, RS, FIPE/HCPA, Clausell, Nadine; Faculdade de Medicina/UFRGS Hospital de Clínicas de Porto Alegre/HCPA, and Goldim, José Roberto; Hospital de Clínicas de Porto Alegre, RS
Abstract: A vida acadêmica dos alunos da Medicina é balizada por inúmeros momentos marcantes, desde a entrada no curso até a formatura. Celebrar a entrada em contato com o hospital e o início das atividades assistenciais é importante para o aluno sentir-se acolhido na comunidade acadêmica. A realização de cerimônias como a do recebimento do crachá de acesso ao hospital ou do jaleco branco são exemplos deste tipo de atividade.
Published: 2012

6. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia

Author: Yichi Zhang, Laura A. Lettice, Yin Shen, Elizabeth Lemos Silveira-Lucas, Aki Ushiki, Ilias Georgakopoulos-Soares, Michael J. Bamshad, Kirsty Jamieson, Florence Petit, Chenling Xiong, Jingjing Zhao, Nadav Ahituv, Lauren Kane, Deborah A. Nickerson, University of California [San Francisco] (UCSF), University of California, University of Edinburgh, University of Washington [Seattle], Hospital de Clínicas de Porto Alegre (HCPA), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Lille, CHU Lille, University of California [San Francisco] [UC San Francisco], Hospital de Clínicas de Porto Alegre [HCPA], Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, University of California [San Francisco] (UC San Francisco), and University of California (UC)
Subjects: 0301 basic medicine, Male, CCCTC-Binding Factor, Transcriptional regulatory elements, [SDV]Life Sciences [q-bio], genetic processes, General Physics and Astronomy, chemistry.chemical_compound, Mice, Congenital, 0302 clinical medicine, 2.1 Biological and endogenous factors, Developmental, Aetiology, Promoter Regions, Genetic, Sequence Deletion, Mice, Knockout, Multidisciplinary, Disease genetics, Gene Expression Regulation, Developmental, Exons, Phenotype, Chromatin, Cell biology, Enhancer Elements, Genetic, Embryo, Chromatin Immunoprecipitation Sequencing, Female, Hand Deformities, Congenital, Biotechnology, Foot Deformities, Foot Deformities, Congenital, Enhancer Elements, Science, Knockout, Locus (genetics), Development, Animals, Binding Sites, Disease Models, Animal, Embryo, Mammalian, Extremities, Genetic Loci, Genetic Testing, Hedgehog Proteins, Humans, Introns, Membrane Proteins, Species Specificity, Whole Genome Sequencing, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Promoter Regions, 03 medical and health sciences, Genetic, Animal disease models, Genetics, Limb development, natural sciences, Enhancer, University of Washington Center for Mendelian Genomics, Gene knockout, Animal, Mammalian, Human Genome, General Chemistry, Hand Deformities, 030104 developmental biology, chemistry, Gene Expression Regulation, CTCF, Disease Models, 030217 neurology & neurosurgery, Function (biology), DNA
Abstract: Acheiropodia, congenital limb truncation, is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development. How these deletions lead to this phenotype is unknown. Using whole-genome sequencing, we fine-mapped the acheiropodia-associated region to 12 kb and show that it does not function as an enhancer. CTCF and RAD21 ChIP-seq together with 4C-seq and DNA FISH identify three CTCF sites within the acheiropodia-deleted region that mediate the interaction between the ZRS and the SHH promoter. This interaction is substituted with other CTCF sites centromeric to the ZRS in the disease state. Mouse knockouts of the orthologous 12 kb sequence have no apparent abnormalities, showcasing the challenges in modelling CTCF alterations in animal models due to inherent motif differences between species. Our results show that alterations in CTCF motifs can lead to a Mendelian condition due to altered enhancer–promoter interactions., Acheiropodia is associated with homozygous deletions in the LMBR1 gene around ZRS, an enhancer regulating SHH during limb development, but how these deletions lead to this phenotype is unknown. Here the authors use whole-genome sequencing, ChIP-seq, 4C-seq and DNA FISH to show that alterations in CTCF motifs are responsible via altered enhancer–promoter interactions.
Published: 2021

7. The current state of clinical mycology in Africa: a European Confederation of Medical Mycology and International Society for Human and Animal Mycology survey

Author: Cândida Driemeyer, Diego R Falci, Rita O Oladele, Felix Bongomin, Bright K Ocansey, Nelesh P Govender, Martin Hoenigl, Jean Pierre Gangneux, Cornelia Lass-Flörl, Oliver A Cornely, Alexandre Alanio, Jesus Guinea, C Orla Morrissey, Riina Rautemaa-Richardson, Arunaloke Chakrabarti, Jacques F Meis, Caroline Bruns, Jannik Stemler, Alessandro C Pasqualotto, Federal University of Health Sciences of Porto Alegre = Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Hospital de Clínicas de Porto Alegre (HCPA), University of Lagos, Gulu University, Partenaires INRAE, University of Manchester [Manchester], University of the Witwatersrand [Johannesburg] (WITS), University of California [San Diego] (UC San Diego), University of California (UC), Medical University of Graz, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Leopold Franzens Universität Innsbruck - University of Innsbruck, German Center for Infection Research - Partner Site Bonn-Cologne (DZIF), Hôpitaux Universitaire Saint-Louis, Lariboisière, Fernand-Widal, Mycologie moléculaire - Molecular Mycology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Consejo Superior de Investigaciones Científicas [Spain] (CSIC), Monash university, CSIR-Institute of Microbial Technology [Chandigarh] (IMTech), Council of Scientific and Industrial Research [India] (CSIR), and Radboud University Medical Center [Nijmegen]
Subjects: MESH: Fungi, Microbiology (medical), Antifungal Agents, MESH: Humans, [SDV]Life Sciences [q-bio], Fungi, Nigeria, Mycology, MESH: Antifungal Agents, Microbiology, Infectious Diseases, Mycoses, Virology, Animals, Humans, MESH: Animals, MESH: Nigeria
Abstract: International audience; Africa, although not unique in this context, is a favourable environment for fungal infections, given the high burden of risk factors. An online survey was developed asking about laboratory infrastructure and antifungal drug availability. We received 40 responses (24.4% response rate) of 164 researchers contacted from 21 African countries. Only five institutions (12.5%) of 40 located in Cameroon, Kenya, Nigeria, Sudan, and Uganda potentially fulfilled the minimum laboratory requirements for European Confederation of Medical Mycology Excellence Centre blue status. Difficulties included low access to susceptibility testing for both yeasts and moulds (available in only 30% of institutions) and Aspergillus spp antigen detection (available in only 47.5% of institutions as an in-house or outsourced test), as well as access to mould-active antifungal drugs such as amphotericin B deoxycholate (available for 52.5% of institutions), itraconazole (52.5%), voriconazole (35.0%), and posaconazole (5.0%). United and targeted efforts are crucial to face the growing challenges in clinical mycology.
Published: 2022

8. Comparing patient-perceived and physician-perceived remission and low disease activity in psoriatic arthritis

Author: Uta Kiltz, Adeline Ruyssen-Witrand, Penelope Esther Palominos, Ennio Lubrano, Laura C. Coates, Martin Soubrier, Déborah Puyraimond-Zemmour, Maarten de Wit, Sibel Zehra Aydin, Andra Balanescu, Clémence Gorlier, Inna Gaydukova, Lihi Eder, Umut Kalyoncu, Laure Gossec, Emmanuelle Dernis, Juan D. Cañete, M. Elaine Husni, Sandra Tälli, Ying Ying Leung, Pascal Richette, Josef S Smolen, Ana Maria Orbai, Rossana Scrivo, Sorbonne Université (SU), Johns Hopkins University School of Medicine [Baltimore], University of Oxford [Oxford], Ruhr-Universität Bochum [Bochum], Hospital de Clínicas de Porto Alegre (HCPA), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Université de Médecine Carol Davila, Centre Hospitalier Le Mans (CH Le Mans), CHU Toulouse [Toulouse], Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Service de Rhumatologie [CHU Gabriel-Montpied], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Ottawa Hospital Research Institute [Ottawa] (OHRI), University of Ottawa [Ottawa], University of Toronto, University of Molise [Campobasso] (UNIMOL), University of Molise, Hacettepe University = Hacettepe Üniversitesi, Service de Rhumatologie [CHU Lariboisière], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cleveland Clinic, VU University Medical Center [Amsterdam], Medizinische Universität Wien = Medical University of Vienna, Service de rhumatologie [CHU Pitié Salpêtrière] (GRC-08 EEMOIS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Rhumatologie [CHU Pitié Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Ethics, Law & Medical humanities, and APH - Health Behaviors & Chronic Diseases
Subjects: Adult, Male, medicine.medical_specialty, Outcome Assessment, Cross-sectional study, Immunology, Psoriatic, disease activity, patient perspective, psoriatic arthritis, Severity of Illness Index, General Biochemistry, Genetics and Molecular Biology, Disease activity, Diagnostic Self Evaluation, 03 medical and health sciences, Psoriatic arthritis, 0302 clinical medicine, Rheumatology, Physicians, Internal medicine, Outcome Assessment, Health Care, Severity of illness, medicine, Humans, Immunology and Allergy, In patient, 030212 general & internal medicine, 030203 arthritis & rheumatology, Biological Products, Antirheumatic Agents, Arthritis, Psoriatic, Cross-Sectional Studies, Female, Middle Aged, Remission Induction, Reproducibility of Results, Treatment Outcome, business.industry, Arthritis, Mean age, medicine.disease, 3. Good health, Health Care, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Unselected population, business, Kappa
Abstract: BackgroundThe objective was to compare different definitions of remission and low disease activity (LDA) in patients with psoriatic arthritis (PsA), based on both patients’ and physicians’ perspectives.MethodsIn ReFlap (Remission/Flare in PsA; NCT03119805), adults with physician-confirmed PsA and >2 years of disease duration in 14 countries were included. Remission was defined as very low disease activity (VLDA), Disease Activity index for PSoriatic Arthritis (DAPSA) ≤4, and physician-perceived and patient-perceived remission (specific question yes/no), and LDA as minimal disease activity (MDA), DAPSA ResultsOf 410 patients, the mean age (SD) was 53.9 (12.5) years, 50.7% were male, disease duration was 11.2 (8.2) years, 56.8% were on biologics, and remission/LDA was frequently attained: respectively, for remission from 12.4% (VLDA) to 36.1% (physician-perceived remission), and for LDA from 25.4% (MDA) to 43.9% (patient-perceived LDA). Thus, patient-perceived remission/LDA was frequent (65.4%). Agreement between patient-perceived remission/LDA and composite scores was moderate to good (kappa range, 0.12–0.65). When patient-perceived remission or LDA status is used as reference, DAPSA-defined remission/LDA and VLDA/MDA had a sensitivity of 73.1% and 51.5%, respectively, and a specificity of 76.8% and 88.0%, respectively. Physician-perceived remission/LDA using a single question was frequent (67.6%) but performed poorly against other definitions.ConclusionIn this unselected population, remission/LDA was frequently attained. VLDA/MDA was a more stringent definition than DAPSA-based remission/LDA. DAPSA-based remission/LDA performed better than VLDA/MDA to detect patient-defined remission or remission/LDA. Further studies of long-term outcomes are needed.
Published: 2019

9. Reverse engineering of Ewing Sarcoma regulatory network uncovers PAX7 and RUNX3 as master regulators associated with good prognosis

Author: Rodrigo Juliani Siqueira Dalmolin, Matheus Gibeke Siqueira Dalmolin, Marcel da Câmara Ribeiro-Dantas, Mariane da Cunha Jaeger, Caroline Brunetto de Farias, Danilo Oliveira Imparato, Marialva Sinigaglia, Rafael Roesler, André T Brunetto, Universidade Federal do Rio Grande do Norte [Natal] (UFRN), Laboratoire Physico-Chimie Curie [Institut Curie] (PCC), Institut Curie [Paris]-Institut de Chimie du CNRS (INC)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Children's Cancer Institute, Hospital de Clínicas de Porto Alegre (HCPA), and Universidade Federal do Rio Grande do Sul [Porto Alegre] (UFRGS)
Subjects: 0301 basic medicine, Cancer Research, Pediatric cancer, [SDV]Life Sciences [q-bio], Fatores de transcrição, Regulome, Biology, lcsh:RC254-282, Article, Cancer of unknown primary, 03 medical and health sciences, 0302 clinical medicine, medicine, MEF2C, Gene, Transcription factor, transcription factor, Genetics, Genes reguladores, systems biology, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, cancer of unknown primary, 3. Good health, pediatric cancer, Sarcoma de Ewing, 030104 developmental biology, Regulon, Oncology, 030220 oncology & carcinogenesis, FLI1, regulome, Sarcoma, Redes reguladoras de genes, Systems biology
Abstract: Simple Summary Ewing Sarcoma is a rare cancer that, when localized, has an overall five-year survival rate of 70%. Patients with metastasis have a five-year survival rate of 15 to 30%. Early analysis of patient prognosis can be crucial to provide adequate treatment and increase chances of survival. Besides, it is a disease with several gaps in our understanding, including regulation of genes and which transcription factors are master regulators. This work addresses these two topics by inferring gene regulatory networks that allow us to identify putative master regulators to predict patient prognosis. We were able to identify two sets of master regulators that can predict good and bad patient outcomes. Abstract Ewing Sarcoma (ES) is a rare malignant tumor occurring most frequently in adolescents and young adults. The ES hallmark is a chromosomal translocation between the chromosomes 11 and 22 that results in an aberrant transcription factor (TF) through the fusion of genes from the FET and ETS families, commonly EWSR1 and FLI1. The regulatory mechanisms behind the ES transcriptional alterations remain poorly understood. Here, we reconstruct the ES regulatory network using public available transcriptional data. Seven TFs were identified as potential MRs and clustered into two groups: one composed by PAX7 and RUNX3, and another composed by ARNT2, CREB3L1, GLI3, MEF2C, and PBX3. The MRs within each cluster act as reciprocal agonists regarding the regulation of shared genes, regulon activity, and implications in clinical outcome, while the clusters counteract each other. The regulons of all the seven MRs were differentially methylated. PAX7 and RUNX3 regulon activity were associated with good prognosis while ARNT2, CREB3L1, GLI3, and PBX3 were associated with bad prognosis. PAX7 and RUNX3 appear as highly expressed in ES biopsies and ES cell lines. This work contributes to the understanding of the ES regulome, identifying candidate MRs, analyzing their methilome and pointing to potential prognostic factors.
Published: 2021

10. Analysis of referrals to the stomatology service in a Southern Brazilian hospital: a retrospective study

Author: Gisele Corrêa de Oliveira ZIGMUNDO, Tuany Rafaeli SCHMIDT, Felipe Martins SILVEIRA, Matheus NEVES, Marco Antônio Trevizani MARTINS, Vinicius Coelho CARRARD, Manoela Domingues MARTINS, ZIGMUNDO Gisele Corrêa de Oliveira, Universidade Federal do Rio Grande do Sul – UFRGS, School of Dentistry, Department of Oral Pathology, Porto Alegre, RS, Brazil., SCHMIDT Tuany Rafaeli, Universidade Federal do Rio Grande do Sul – UFRGS, School of Dentistry, Department of Oral Pathology, Porto Alegre, RS, Brazil., SILVEIRA Felipe Martins, Universidade Estadual de Campinas, Piracicaba Dental School, Department of Oral Diagnosis, Piracicaba, SP, Brazil., NEVES Matheus, Universidade Federal do Rio Grande do Sul – UFRGS, School of Dentistry, Department of Preventive Dentistry, Porto Alegre, RS, Brazil., MARTINS Marco Antônio Trevizani, Hospital de Clínicas de Porto Alegre – HCPA, Department of Stomatology, Porto Alegre, RS, Brazil., CARRARD Vinicius Coelho, Universidade Federal do Rio Grande do Sul – UFRGS, School of Dentistry, Department of Oral Pathology, Porto Alegre, RS, Brazil., and MARTINS Manoela Domingues, Universidade Federal do Rio Grande do Sul – UFRGS, School of Dentistry, Department of Oral Pathology, Porto Alegre, RS, Brazil.
Subjects: Adult, Male, medicine.medical_specialty, Oncologia, Adolescent, Hospitalized patients, Epidemiology, Stomatology, Oral Medicine, Specialty, DERIVACION Y CONSULTA, Medical Oncology, Medicina bucal, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, General Materials Science, 030212 general & internal medicine, Epidemiologia, Child, Referral and Consultation, MEDICINA ORAL, Retrospective Studies, ESTUDIOS TRANSVERSALES, Stomatitis, Estomatite, Descriptive statistics, business.industry, ESTUDIOS RETROSPECTIVOS, RK1-715, Mean age, Retrospective cohort study, 030206 dentistry, Middle Aged, Hospitals, Cross-Sectional Studies, HOSPITALES, Dentistry, Family medicine, business, Oral medicine, Brazil
Abstract: This paper intends to describe the demand for referrals to the stomatology service requested by the medical teams for inpatients in a reference hospital in the south of Brazil. This research is a retrospective cross-sectional descriptive study focusing on data collection and assessment of information about referrals to the stomatology unit carried out from January 2008 to December 2018. All information was obtained from the hospital management software database, then transferred and analyzed individually for descriptive statistics. A total of 4433 cases were referred to the stomatology team, with an average of 403 cases by year. Hematology/hemato-oncology (37.3%) was the specialty asking for the majority of the referrals, followed by Oncology (20.4%) and Pneumology (8.2%). The mean patients’ profile was males (55.5%), receiving a diagnosis of oral mucositis (43.5%), and with the first and second decades of life being the most prevalent ones (34.9%), with a mean age of 34.8±22.3 years. The most common treatment performed by the stomatology team was the photobiomodulation therapy (44.8%). This retrospective study demonstrated the important profile of the stomatological care in hospitalized patients from a specific hospital, especially referred by the hematology/hemato-oncology team. These results evidenced the importance of the stomatology specialty in the hospital environment.
Published: 2021

11. Determinants of Patient-Reported Psoriatic Arthritis Impact of Disease:An Analysis of the Association With Sex in 458 Patients From Fourteen Countries

Author: Uta Kiltz, Andra Balanescu, Ying Ying Leung, Lihi Eder, Sibel Zehra Aydin, Sandra Tälli, Penelope Esther Palominos, Rossana Scrivo, Clémence Gorlier, Ennio Lubrano, Juan D. Cañete, Maarten de Wit, Ana Maria Orbai, Inna Gaydukova, M. Elaine Husni, Adeline Ruyssen-Witrand, Pascal Richette, Laura C. Coates, Josef S Smolen, Laure Gossec, Emmanuelle Dernis, Martin Soubrier, Umut Kalyoncu, Jamie Perin, Gestionnaire, Hal Sorbonne Université, Johns Hopkins University (JHU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Oxford, Ruhr University Bochum (RUB), Singapore General Hospital, Hospital de Clínicas de Porto Alegre (HCPA), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Université de Médecine Carol Davila, Centre Hospitalier Le Mans (CH Le Mans), East Tallinn Central Hospital, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Ottawa Hospital Research Institute [Ottawa] (OHRI), University of Toronto, North-Western State Medical University [St Petersburg, Russia], Università degli Studi del Molise = University of Molise (UNIMOL), Hacettepe University = Hacettepe Üniversitesi, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Cleveland Clinic, Medizinische Universität Wien = Medical University of Vienna, Amsterdam UMC - Amsterdam University Medical Center, Service de Rhumatologie [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Ethics, Law & Medical humanities
Subjects: medicine.medical_specialty, [SDV]Life Sciences [q-bio], Disease, patient reported outcomes, 03 medical and health sciences, Psoriatic arthritis, 0302 clinical medicine, Treatment targets, Rheumatology, Rating scale, life impact, Internal medicine, gender, medicine, sex, treatment target, psoriatic arthritis, 030203 arthritis & rheumatology, Adult patients, business.industry, Enthesitis, Odds ratio, medicine.disease, [SDV] Life Sciences [q-bio], medicine.symptom, Antirheumatic drugs, business
Abstract: International audience; Objective: Sex differences may modify symptoms, disease expression, and treatment effects. The objective of this study was to evaluate the link between life impact and sex in psoriatic arthritis (PsA).Methods: Remission and Flare in Psoriatic Arthritis (ReFlaP; ClinicalTrials.gov identifier: NCT03119805) was a study in 14 countries of consecutive adult patients with definite PsA. Participants underwent comprehensive PsA assessment using the following measures: Disease Activity in Psoriatic Arthritis (DAPSA), Minimal Disease Activity (MDA), and Psoriatic Arthritis Impact of Disease (PsAID). Disease activity was compared by sex using t-tests or Wilcoxon tests. The association of PsAID with sex was analyzed using hierarchical generalized linear models.Results: Of 458 participants, 50.2% were male and the mean ± SD age was 53.1 ± 12.6 years. The mean ± SD PsA duration was 11 ± 8.2 years, and 51.5% of participants were being treated with biologic disease-modifying antirheumatic drugs. Women, compared to men, had worse mean ± SD Leeds Enthesitis Index scores (0.8 ± 1.7 versus 0.3 ± 0.9), pain on a numerical rating scale (NRS; range 0-10) (4.7 ± 2.7 versus 3.5 ± 2.7), HAQ DI scores (0.9 ± 0.7 versus 0.5 ± 0.6), fatigue on an NRS (5.2 ± 3 versus 3.3 ± 2.8), and PsAID scores (4.1 ± 2.4 versus 2.8 ± 2.3) (P < 0.001 for all). Women were also less frequently at treatment target compared to men according to DAPSA (cutoffs of ≤4 for remission and >4 and ≤14 for low disease activity; mean ± SD score 16.9 ± 14.9 in women versus 12.6 ± 16.6 in men) and MDA (25.7% versus 50.0%; P < 0.001 for all) scores. High life impact (PsAID score ≥4) was associated with female sex (odds ratio [OR] 2.3), enthesitis (OR 1.34), tender joints (OR 1.10)(P < 0.001 for all), and comorbidities (OR 1.22, P = 0.002).Conclusion: High life impact was independently associated with female sex, enthesitis, comorbidities, and tender joints. At treatment target, women had higher life impact compared to men. It is necessary for life impact to become a part of PsA treat-to-target strategies.
Published: 2020

12. Occupational socioeconomic risk associations for head and neck cancer in Europe and South America: individual participant data analysis of pooled case-control studies within the INHANCE Consortium

Author: Alexander W. Daudt, Kristina Kjærheim, Paolo Boffetta, Antonio Agudo, Leticia Fernandez, Peter Thomson, Cristina Canova, Alastair Ross, Isabelle Stücker, Diego Serraino, David I. Conway, Marta Vilensky, Rosalina Jorge Koifman, Paul Brennan, Lorenzo Richiardi, Gary J. Macfarlane, Mia Hashibe, Thomas Behrens, Pagona Lagiou, Simone Benhamou, Claire M. Healy, Amy Lee Yuan-Chin, Maria Paula Curado, Victor Wünsch-Filho, Wolfgang Ahrens, Alex D. McMahon, Gwenn Menvielle, Ariana Znaor, Ivana Holcatova, Heribert Ramroth, Jan Hovanec, Danièle Luce, Ana M. B. Menezes, University of Glasgow, Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Leibniz Institute for Prevention Research and Epidemiology - BIPS, Leibniz Association, First Faculty of Medicine Charles University [Prague], University of Athens Medical School [Athens], Universita degli Studi di Padova, University of Turin, Trinity College Dublin, Cancer Registry of Norway, University of Aberdeen, The University of Hong Kong (HKU), L’Hospitalet de Llobregat [Barcelona, Spain], Centre International de Recherche contre le Cancer - International Agency for Research on Cancer (CIRC - IARC), Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut Gustave Roussy (IGR), University of Heidelberg, Medical Faculty, Mount Sinai School of Medicine, Department of Psychiatry-Icahn School of Medicine at Mount Sinai [New York] (MSSM), University of Bologna, University of Buenos Aires [Argentina], Universidade Federal de Pelotas = Federal University of Pelotas (UFPel), Hospital de Clínicas de Porto Alegre (HCPA), Fundação Oswaldo Cruz (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP), University of São Paulo (USP), University of Utah School of Medicine [Salt Lake City], National Cancer Institute, NCI: R03CA113157, National Institute of Dental and Craniofacial Research, NIDCR: R03DE016611, European Commission, EC: IC18-CT97-0222, Agence Nationale de la Recherche, ANR, Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP: 01/01768-2, Bundesministerium für Bildung und Forschung, BMBF: 01GB9702/3, Fondation pour la Recherche Médicale, FRM, Fondation ARC pour la Recherche sur le Cancer, ARC, Fondation de France, Ministère des Affaires Sociales et de la Santé, Fifth Framework Programme, FP5: FOR381.88, KFS1069-09-2000, QLK1-CT-2001-00182, Institut National Du Cancer, INCa, Fondo para la Investigación Científica y Tecnológica, FonCyT, Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail, ANSES, Institut Gustave-Roussy: 88D28, Institut de Veille Sanitaire, InVS, Swiss Cancer Research Foundation: AKT 617, Conway D.I., Hovanec J., Ahrens W., Ross A., Holcatova I., Lagiou P., Serraino D., Canova C., Richiardi L., Healy C., Kjaerheim K., Macfarlane G.J., Thomson P., Agudo A., Znaor A., Brennan P., Luce D., Menvielle G., Stucker I., Benhamou S., Ramroth H., Boffetta P., Vilensky M., Fernandez L., Curado M.P., Menezes A., Daudt A., Koifman R., Wunsch-Filho V., Yuan-Chin A.L., Hashibe M., Behrens T., McMahon A.D., Università degli Studi di Padova = University of Padua (Unipd), Università degli studi di Torino = University of Turin (UNITO), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de biostatistique et d'épidémiologie (SBE), Direction de la recherche clinique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), University of Bologna/Università di Bologna, Universitad de Buenos Aires = University of Buenos Aires [Argentina], Universidade de São Paulo = University of São Paulo (USP), HAL UR1, Admin, and Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ)
Subjects: Data Analysis, medicine.medical_specialty, Epidemiology, Risk factors in diseases, Occupational prestige, [SDV]Life Sciences [q-bio], Socioeconomic Factor, Head cancer, socioeconomic, Cancer, Cancer Epidemiology, Occupational, Socioeconomic, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Epidemiology of cancer, medicine, Humans, 030212 general & internal medicine, Socioeconomic status, Càncer de cap, Original Research, business.industry, Factors de risc en les malalties, Prestige, Risk Factor, Head and neck cancer, Public Health, Environmental and Occupational Health, Case-control study, South America, medicine.disease, Neck cancer, Càncer de coll, [SDV] Life Sciences [q-bio], Europe, Data Analysi, Socioeconomic Factors, cancer: occupational, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Case-Control Studies, cancer epidemiology, business, Case-Control Studie, Psychosocial, Demography, Human
Abstract: BackgroundThe association between socioeconomic disadvantage (low education and/or income) and head and neck cancer is well established, with smoking and alcohol consumption explaining up to three-quarters of the risk. We aimed to investigate the nature of and explanations for head and neck cancer risk associated with occupational socioeconomic prestige (a perceptual measure of psychosocial status), occupational socioeconomic position and manual-work experience, and to assess the potential explanatory role of occupational exposures.MethodsPooled analysis included 5818 patients with head and neck cancer (and 7326 control participants) from five studies in Europe and South America. Lifetime job histories were coded to: (1) occupational social prestige—Treiman’s Standard International Occupational Prestige Scale (SIOPS); (2) occupational socioeconomic position—International Socio-Economic Index (ISEI); and (3) manual/non-manual jobs.ResultsFor the longest held job, adjusting for smoking, alcohol and nature of occupation, increased head and neck cancer risk estimates were observed for low SIOPS OR=1.88 (95% CI: 1.64 to 2.17), low ISEI OR=1.74 (95% CI: 1.51 to 1.99) and manual occupations OR=1.49 (95% CI: 1.35 to 1.64). Following mutual adjustment by socioeconomic exposures, risk associated with low SIOPS remained OR=1.59 (95% CI: 1.30 to 1.94).ConclusionsThese findings indicate that low occupational socioeconomic prestige, position and manual work are associated with head and neck cancer, and such risks are only partly explained by smoking, alcohol and occupational exposures. Perceptual occupational psychosocial status (SIOPS) appears to be the strongest socioeconomic factor, relative to socioeconomic position and manual/non-manual work.
Published: 2020

13. Clinical and molecular findings in a cohort of ANO5-related myopathy

Author: Laís Uyeda Aivazoglou, Edmar Zanoteli, Bruno de Mattos Lombardi Badia, Antônio R. Coimbra-Neto, André Macedo Serafim da Silva, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira, Pablo Brea Winckler, Vanessa C. Pereira, Umbertina Conti Reed, Wladimir Bocca Vieira de Rezende Pinto, Luiz H. Libardi, Paulo Victor Partezani Helito, Marcus Goncalves, Mario Emílio Teixeira Dourado-Júnior, Anamarli Nucci, Amaro J. S. D. Camargo, Marcondes Cavalcante França-Junior, Marcelo Maroco Cruzeiro, Leonardo Valente de Camargo, Marcela C. Machado-Costa, Mario Teruo Yanagiura, Eduardo de Paula Estephan, Jonas Alex Morales Saute, Hudson H. Gomes, Rodrigo de Holanda Mendonça, Eduardo B. U. Cavalcanti, Cláudia Ferreira da Rosa Sobreira, Clara Gontijo Camelo, Alzira Alves de Siqueira Carvalho, Universidade de São Paulo (USP), Universidade Estadual de Campinas (UNICAMP), Universidade Federal de São Paulo (UNIFESP), Hospital de Clínicas de Porto Alegre (HCPA), Universidade da Região de Joinville (UNIVILLE), Rede Sarah de Hospitais de Reabilitação, Faculdade de Medicina do ABC, Escola Bahiana de Medicina e Saúde Pública, Universidade Federal do Rio Grande do Norte, Universidade Estadual Paulista (Unesp), Universidade Federal de Juiz de Fora (UFJF), Pontifícia Universidade Católica do Paraná, and Universidade Federal do Rio Grande do Sul
Subjects: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Population, Anoctamins, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, Asymptomatic, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Internal medicine, Genotype, medicine, Humans, Muscular dystrophy, Child, Muscle, Skeletal, education, Myopathy, RC346-429, Research Articles, Aged, education.field_of_study, business.industry, General Neuroscience, Middle Aged, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Cohort, Female, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business, Brazil, 030217 neurology & neurosurgery, Research Article, Cohort study, RC321-571
Abstract: Made available in DSpace on 2019-10-06T16:41:11Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-07-01 Objective: ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods: A national cross-sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results: Thirty-seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes. Interpretation: We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype. Department of Neurology Faculdade de Medicina Universidade de São Paulo Department of Neurology Faculdade de Ciências Médicas Universidade Estadual de Campinas Division of Neuromuscular Diseases Department of Neurology and Neurosurgery Universidade Federal de São Paulo (UNIFESP) Neurology Service Hospital de Clínicas de Porto Alegre (HCPA) Universidade da Região de Joinville (UNIVILLE) Rede Sarah de Hospitais de Reabilitação Faculdade de Medicina do ABC Departamento de Neurociências e Ciências do Comportamentom Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo Escola Bahiana de Medicina e Saúde Pública Departamento de Medicina Integrada Universidade Federal do Rio Grande do Norte Department of Neurology Psychology and Psychiatry Botucatu School of Medicine Universidade Estadual Paulista Júlio Mesquita (UNESP) Division of Neuromuscular Diseases Department of Neurology and Neurosurgery Hospital Universitário Universidade Federal de Juiz de Fora (UFJF) Department of Radiology Faculdade de Medicina Universidade de São Paulo Department of Diagnostic Imaging Universidade Federal de São Paulo (UNIFESP) Pontifícia Universidade Católica do Paraná Orthopedic Institute Faculdade de Medicina Universidade de São Paulo Department of Internal Medicine Universidade Federal do Rio Grande do Sul Medical Genetics Service Hospital de Clínicas de Porto Alegre (HCPA) Department of Neurology Psychology and Psychiatry Botucatu School of Medicine Universidade Estadual Paulista Júlio Mesquita (UNESP)
Published: 2019

14. Privacidade relacional no Ambulatório de Oncogénetica do Hospital de Clínicas de Porto Alegre

Author: Márcia Santana Fernandes, Leonardo Stoll de Morais, José Roberto Goldim, Patricia Ashton-Prolla, (1) Hospital de Clínicas de Porto Alegre (HCPA), and (2) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
Subjects: Direito, Saúde, Bioética, Public Administration, Privacidade relacional, Aconselhamento genético, Informação genética, Decisões compartilhadas
Abstract: O artigo trata do direito à privacidade relacional no contexto do serviço multidisciplinar da Oncogenética. Em particular, objetiva-se no estudo problematizar a mudança empírica da privacidade individual, para a noção relacional, principalmente, em face dos desafios impostos pelo aconselhamento genético humano. A questão central do estudo é responder se a privacidade visa garantir uma fronteira exclusiva que separa o indivíduo dos demais; ou se ela, ao contrário, protege o relacionamento contínuo de confiança, permeado por decisões compartilhadas entre o indivíduo e outras pessoas. Para isso, realizou-se um estudo de caso institucional do Ambulatório de Oncogenética do Hospital de Clínicas de Porto Alegre, para avaliar se, nesse ambiente, a privacidade é consolidada por meio de narrativas que potencializam a noção de indivíduo detentor de um segredo; ou se ela é definida com base em processos dialéticos que traduzem a ideia relacional de pessoa receptora de uma informação compartilhável. A partir dos resultados obtidos, conclui-se que, no aconselhamento genético, o direito à privacidade é protegido por meio de processos narrativos estabelecidos entre o paciente que compartilha as informações e o profissional que atua como receptor e intérprete. Trata-se, portanto, de um cenário em que há uma relação de cooperação a fim de garantir benefícios aos envolvidos, sendo o dever do paciente informar os familiares em risco e o dever do profissional de saúde manter os dados e informações de forma confidencial.
Published: 2018

15. Analysis of shared heritability in common disorders of the brain

Author: Brainstorm Consortium, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John SK, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias, Ligthart, Lannie, Terwindt, Gisela M, Freilinger, Tobias, Ran, Caroline, Gordon, Scott D, Borck, Guntram, Adams, Hieab HH, Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E, Schürks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D, Belin, Andrea C, Van Den Maagdenberg, Arn MJM, Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell J, Catarino, Claudia B, Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N, French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer, Kälviäinen, Reetta, Kunz, Wolfram S, Lerche, Holger, Leu, Costin, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Møller, Rikke S, Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M, Smith, Philip, Sperling, Michael, Striano, Pasquale, Surges, Rainer, Thomas, G Neil, Visscher, Frank, Whelan, Christopher D, Zara, Federico, Heinzen, Erin L, Marson, Anthony, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter, Martinez, Maria, Morris, Huw R, Sharma, Manu, Ryten, Mina, Mok, Kin Y, Pulit, Sara, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, Boncoraglio, Giorgio, Thijs, Vincent, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie, Vicente, Astrid, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Boraska Perica, Vesna, Thornton, Laura M, Huckins, Laura M, William Rayner, N, Lewis, Cathryn M, Gratacos, Monica, Rybakowski, Filip, Keski-Rahkonen, Anna, Raevuori, Anu, Hudson, James I, Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H, O'Toole, Julie K, Trace, Sara E, Davis, Oliver SP, Helder, Sietske G, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N, Van Elburg, Annemarie A, Clementi, Maurizio, Forzan, Monica, Docampo, Elisa, Lissowska, Jolanta, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah, Herms, Stefan, Julià, Antonio, Rabionet, Raquel, Dick, Danielle M, Ripatti, Samuli, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri J, Steen, Vidar M, Pinto, Dalila, Scherer, Stephen W, Aschauer, Harald, Schosser, Alexandra, Alfredsson, Lars, Padyukov, Leonid, Halmi, Katherine A, Mitchell, James, Strober, Michael, Bergen, Andrew W, Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru, Ramos-Quiroga, Josep Antoni, Sánchez-Mora, Cristina, Ribasés, Marta, Casas, Miguel, Hervas, Amaia, Arranz, Maria Jesús, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan, Williams, Nigel, Dempfle, Astrid, Rothenberger, Aribert, Kuntsi, Jonna, Oades, Robert D, Banaschewski, Tobias, Franke, Barbara, Buitelaar, Jan K, Arias Vasquez, Alejandro, Doyle, Alysa E, Reif, Andreas, Lesch, Klaus-Peter, Freitag, Christine, Rivero, Olga, Palmason, Haukur, Romanos, Marcel, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H, Dalsgaard, Soeren, Børglum, Anders D, Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton HD, Crosbie, Jennifer, Schachar, Russell, Loo, Sandra K, McGough, James J, Grevet, Eugenio H, Medland, Sarah E, Robinson, Elise, Weiss, Lauren A, Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino, Betancur, Catalina, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patrícia, Dawson, Geraldine, De Rubeis, Silvia, Duque, Frederico, Green, Andrew, Klauck, Sabine M, Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, De-Luca, Daniel Moreno, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven, Vorstman, Jacob, Wassink, Thomas, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard, Rogé, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G, Thompson, Robert C, Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E, Schalling, Martin, Jamain, Stéphane, Maaser, Anna, Fischer, Sascha B, Reinbold, Céline S, Fullerton, Janice M, Guzman-Parra, José, Mayoral, Fermin, Schofield, Peter R, Cichon, Sven, Mühleisen, Thomas W, Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B, Gershon, Elliot S, Rice, John, Potash, James B, Zandi, Peter P, Craddock, Nick, Ferrier, I Nicol, Alda, Martin, Rouleau, Guy A, Turecki, Gustavo, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M, Cruceanu, Cristiana, Jones, Ian R, Posthuma, Danielle, Andlauer, Till FM, Forstner, Andreas J, Streit, Fabian, Baune, Bernhard T, Air, Tracy, Sinnamon, Grant, Wray, Naomi R, MacIntyre, Donald J, Porteous, David, Homuth, Georg, Rivera, Margarita, Grove, Jakob, Middeldorp, Christel M, Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H, Jansen, Rick, De Geus, Eco, Dunn, Erin, Li, Qingqin S, Nauck, Matthias, Schoevers, Robert A, Beekman, Aartjan Tf, Knowles, James A, Viktorin, Alexander, Arnold, Paul, Barr, Cathy L, Bedoya-Berrio, Gabriel, Bienvenu, O Joseph, Brentani, Helena, Burton, Christie, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M, Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn, Freimer, Nelson, Gerber, Gloria, Grados, Marco, Greenberg, Erica, Hanna, Gregory L, Hartmann, Andreas, Hirschtritt, Matthew E, Hoekstra, Pieter J, Huang, Alden, Huyser, Chaim, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J, Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A, Maras, Athanasios, McGrath, Lauren, Miguel, Eurípedes C, Mir, Pablo, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S, Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M, Reus, Victor, Richter, Margaret A, Riddle, Mark A, Robertson, Mary M, Roessner, Veit, Rosário, Maria, Samuels, Jack F, Sandor, Paul, Stein, Dan J, Tsetsos, Fotis, Van Nieuwerburgh, Filip, Weatherall, Sarah, Wendland, Jens R, Wolanczyk, Tomasz, Worbe, Yulia, Zai, Gwyneth, Goes, Fernando S, McLaughlin, Nicole, Nestadt, Paul S, Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria, Valencia-Duarte, Ana, Bramon, Elvira, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray, Chong, Siow A, Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kučinskas, Vaidutis, Lee Chee Keong, Jimmy, Limborska, Svetlana, Loughland, Carmel, Lönnqvist, Jouko, Maher, Brion, Mattheisen, Manuel, McDonald, Colm, Murphy, Kieran C, Nenadic, Igor, Van Os, Jim, Pantelis, Christos, Pato, Michele, Petryshen, Tracey, Quested, Digby, Roussos, Panos, Sanders, Alan R, Schall, Ulrich, Schwab, Sibylle G, Sim, Kang, So, Hon-Cheong, Stögmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V, Henskens, Frans, Mattingsdal, Morten, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M, Daly, Mark, Dichgans, Martin, Faraone, Stephen V, Guerreiro, Rita, Holmans, Peter, Kendler, Kenneth S, Koeleman, Bobby, Mathews, Carol A, Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie, Wood, Nicholas W, Cotsapas, Chris, Palotie, Aarno, Smoller, Jordan W, Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden, Neale, Benjamin M, Schott, Jonathan M, Anney, Richard, Elia, Josephine, Grigoroiu-Serbanescu, Maria, Edenberg, Howard J, Murray, Robin, Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], UK Dementia Research Institute (UK DRI), University College of London [London] (UCL), School of Psychology [Cardiff University], Cardiff University, Institute for Stroke and Dementia Research (ISD), Klinikum der Universität [München]-Ludwig Maximilian University [Munich] (LMU), New Jersey Institute of Technology [Newark] (NJIT), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), RIKEN Center for Integrative Medical Sciences [Yokohama] (RIKEN IMS), RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratoire de Biotechnologie et Microbiologie Appliquée (LBMA), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Gériatrie générale et aigüe [Paris], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Columbia University [New York], Dpt of Neuroscience [New York], Icahn School of Medicine at Mount Sinai [New York] (MSSM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Washington [Seattle], Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Children’s Hospital of Philadelphia (CHOP ), University of Kentucky (UK), School of medicine, Duke University [Durham], College of medicine, Brigham Young University (BYU), Oregon Health and Science University [Portland] (OHSU), Cleveland Clinic, Department of Neurology, Emory University [Atlanta, GA], Medical School, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Health sciences center, The University of New Mexico [Albuquerque], Institute for Memory Impairments and Neurological Disorders [Irvine], University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Keck School of Medicine [Los Angeles], University of Southern California (USC), University of South Florida [Tampa] (USF), University of Utah School of Medicine [Salt Lake City], Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Perelman School of Medicine, University of Pennsylvania, Dublin City University [Dublin] (DCU), Functional Genomics Center Zurich, Universität Zürich [Zürich] = University of Zurich (UZH)- Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Cambridge Institute for Medical Research (CIMR), University of Cambridge [UK] (CAM), Aristotle University of Thessaloniki, Maurice Wohl Clinical Neuroscience Institut, King‘s College London, Dementia Research Centre [London] (DRC), Groupe de recherche clinique Alzheimer Precision Medicine (GRC 21 - APM), Sorbonne Université (SU), MRC Centre for Neuropsychiatric Genetics and Genomics, Medical Research Council-Cardiff University, MRC Prion Unit [London], Queen's University [Belfast] (QUB), School of Life Sciences, University of Nottingham, UK (UON), Rheinische Friedrich-Wilhelms-Universität Bonn, Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), QIMR Berghofer Medical Research Institute, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), School of Medicine [Dublin], Trinity College Dublin, Department of Medicine, University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), School of Public Health [Boston], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Columbia University Medical Center (CUMC), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), Saarland University [Saarbrücken], Universität Leipzig, School of Medicine [Los Angeles], Johannes Kepler Universität Linz - Johannes Kepler University Linz [Autriche] (JKU), Department of Neurology [Boston], Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], School of Medecine, Washington University in Saint Louis (WUSTL), Oslo University Hospital [Oslo], Institute for Molecular Medicine Finland [Helsinki] (FIMM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, 23andMe Inc., Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Department of Biological Psychology [Amsterdam], Vrije Universiteit Amsterdam [Amsterdam] (VU), Leiden University Medical Center (LUMC), Universiteit Leiden, University-Hospital Munich-Großhadern [München], Karolinska Institutet [Stockholm], Universität Ulm - Ulm University [Ulm, Allemagne], Faculty of Medicine and Life Sciences [Tampere], University of Tampere [Finland], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Landspitali National University Hospital of Iceland, VU University Medical Center [Amsterdam], Boston VA Research Institute (BVARI), Department of Physiology, Anatomy and Genetics [Oxford], University of Oxford, Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Christian-Albrechts-Universität zu Kiel (CAU), Institute of Clinical Molecular Biology, Kiel University, National Institute for Health and Welfare [Helsinki], Harvard T.H. Chan School of Public Health, Universitat Autònoma de Barcelona (UAB), Vall d'Hebron University Hospital [Barcelona], University of Tartu, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Center for Human and Clinical Genetics, Universiteit Leiden-Universiteit Leiden, University of Copenhagen = Københavns Universitet (UCPH), Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology [Brisbane] (QUT), Discipline of Psychiatry [Dublin], Trinity College Dublin-Trinity College Dublin, Institute of Neurology [London], The University of Hong Kong (HKU), University of Melbourne, Cooper Medical School of Rowan University [Camden] (CMSRU), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM), University of Antwerp (UA), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), New York University School of Medicine (NYU), New York University School of Medicine, NYU System (NYU)-NYU System (NYU), University of Eastern Finland, Universitätsklinikum Bonn (UKB), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, University Medical Center [Utrecht], Ohio State University [Columbus] (OSU), University of California [San Francisco] (UC San Francisco), University of California (UC), Royal College of Surgeons in Ireland (RCSI), University of Southern Denmark (SDU), United Christian Hospital [Hong Kong] (UCH), University of Cincinnati (UC), University of Cologne, Inselspital Bern, University of Wales, Jefferson University Hospitals, University of Liverpool, Medizinische Universität Wien = Medical University of Vienna, National Institutes of Health [Bethesda] (NIH), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Institut de Recherche en Santé Digestive (IRSD ), Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Lincoln, University of Newcastle [Callaghan, Australia] (UoN), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Virginia, University of Maryland [Baltimore County] (UMBC), University of Maryland System, Royal Holloway [University of London] (RHUL), University of Edinburgh, Universidade de Lisboa = University of Lisbon (ULISBOA), Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), University of Split, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), McLean Hospital [Belmont, Ma.], Norwegian Institute of Public Health [Oslo] (NIPH), Università degli Studi di Salerno = University of Salerno (UNISA), University of Bristol [Bristol], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Utrecht University [Utrecht], Azienda Ospedaliera di Padova, Université de Liège, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology (MCMCC), Università degli Studi di Perugia = University of Perugia (UNIPG), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, National and Kapodistrian University of Athens (NKUA), Charles University [Prague] (CU), SURFACES, Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Flinders University [Adelaide, Australia], Virginia Commonwealth University (VCU), University of Oslo (UiO), University of Bergen (UiB), Weill Medical College of Cornell University [New York], University of North Dakota [Grand Forks] (UND), Oregon Research Institute (ORI), University of California [San Diego] (UC San Diego), Universitat de Barcelona (UB), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Hospital Universitario Mutua de Terrassa, School of Computer Science and Communication [Stockholm], Royal Institute of Technology [Stockholm] (KTH ), Jefferson (Philadelphia University + Thomas Jefferson University), University Medical Center Göttingen (UMG), Universität Heidelberg [Heidelberg] = Heidelberg University, Radboud University Medical Center [Nijmegen], Universitätsklinikum Frankfurt, Maastricht University [Maastricht], Institute of Psychological Medicine and Clinical Neurosciences, Aarhus University [Aarhus], University of Iowa [Iowa City], Universidade Federal do Rio Grande do Sul [Porto Alegre] (UFRGS), The Hospital for sick children [Toronto] (SickKids), Hospital de Clínicas de Porto Alegre (HCPA), Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), University of British Columbia (UBC), IRCCS Fondazione Stella Maris [Pisa], Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidade de Coimbra [Coimbra], Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Our Lady's Children's Hospital Crumlin (OLCHC), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Children’s Hospital Los Angeles [Los Angeles], Yale University [New Haven], Brown University, Institute of Neuroscience [Newcastle] (ION), Newcastle University [Newcastle], Department of Medical Epidemiology and Biostatistics (MEB), Division of Medical Genetics [Seattle], University of Illinois [Chicago] (UIC), University of Illinois System, Maine Medical Center Research Institute (MMCRI), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Centre d’Etudes et de Recherches en Psychopathologie et Psychologie de la Santé (CERPPS), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Toulouse Mind & Brain Institut (TMBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Johns Hopkins University School of Medicine [Baltimore], Ludwig Maximilian University [Munich] (LMU), University of Michigan System, Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg] = Heidelberg University-Central Institute of Mental Health Mannheim, University of Dundee, National University of Ireland [Galway] (NUI Galway), University Hospital Basel [Basel], Neuroscience Research Australia (NeuRA), Forschungszentrum Jülich GmbH | Centre de recherche de Juliers, Helmholtz-Gemeinschaft = Helmholtz Association, UNSW Faculty of Medicine [Sydney], University of New South Wales [Sydney] (UNSW), University of Chicago, Johns Hopkins University (JHU), Johns Hopkins Bloomberg School of Public Health [Baltimore], Dalhousie University [Halifax], Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], State University of New York (SUNY), University Hospital of Cologne [Cologne], University of Adelaide, James Cook University (JCU), Institute for Molecular Bioscience, University of Queensland [Brisbane], Greifswald University Hospital, The University of Sydney, University Medical Center Groningen [Groningen] (UMCG), University of Calgary, University Health Network, Universidad de Antioquia = University of Antioquia [Medellín, Colombia], Universidade de São Paulo = University of São Paulo (USP), Ospedale San Raffaele, University of Amsterdam [Amsterdam] (UvA), University of Groningen [Groningen], Yale School of Medicine [New Haven, Connecticut] (YSM), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Cape Town, Cold Spring Harbor Laboratory (CSHL), Universidad de Sevilla / University of Sevilla, University of Florida [Gainesville] (UF), University of Denver, Purdue University [West Lafayette], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Moscow Institute of Physics and Technology [Moscow] (MIPT), Sunnybrook Health Sciences Centre, Federal Institute of São Paulo (IFSP), Democritus University of Thrace (DUTH), Universiteit Gent = Ghent University (UGENT), Medical University of Warsaw - Poland, Sorbonne Université - Faculté de Médecine - Département d'Enseignement et de Recherche en Médecine Générale, Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], Institute of Mental Health [Singapore], Universidad de Cantabria [Santander], Tel Aviv University (TAU), University College Cork (UCC), University of Rochester [USA], Statens Serum Institut [Copenhagen], Софийски университет = Sofia University, Russian Academy of Sciences [Moscow] (RAS), Latvian Biomedical Research and Study Centre [Rīga], Vilnius University [Vilnius], Nanyang Technological University [Singapour], Department of Life Sciences, Imperial College London, Jena University Hospital [Jena], Oxford University Hospitals NHS Trust, Schizophrenia Research Institute [Sydney], Faculty of Science, Medicine and Health [Wollongong], University of Wollongong [Australia], City University of Hong Kong [Hong Kong] (CUHK), Lawrence Berkeley National Laboratory [Berkeley] (LBNL), This work was supported by grants 1R01MH10764901 and 5U01MH09443203 from the National Institute of Mental Health, as well as the Orion Farmos Research Foundation (V.A.) and the Fannie and John Hertz Foundation (H.K.F.). Consortium specific funding is detailed in the supplementary materials ('Study-specific acknowledgments')., Brainstorm Consortium, University of Kentucky, University of California [Irvine] (UCI), University of California-University of California, University of Pennsylvania [Philadelphia], Alzheimer Precision Medicine [CHU Pitié-Salpétriêre] (GRC 21 AMP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universität Leipzig [Leipzig], Johannes Kepler University Linz [Linz] (JKU), University of Helsinki-University of Helsinki, University of Helsinki, University of Oxford [Oxford], University of Copenhagen = Københavns Universitet (KU), University of California [San Francisco] (UCSF), University of California, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Newcastle [Australia] (UoN), University of Virginia [Charlottesville], Universidade de Lisboa (ULISBOA), Università degli Studi di Salerno (UNISA), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Università degli Studi di Perugia (UNIPG), Università degli studi della Campania 'Luigi Vanvitelli', Universität Heidelberg [Heidelberg], Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, VU University Amsterdam, Universidade de São Paulo (USP), Yale University School of Medicine, Universidad de Sevilla, Universiteit Gent = Ghent University [Belgium] (UGENT), Service de Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière] (SPEA), Tel Aviv University [Tel Aviv], University of Sofia, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-Françoi, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Ilyas Kamboh, M., Larson, Eric B., Rogaeva, Ekaterina, George-Hyslop, Peter St, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Yesim Demirci, F., Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S.K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M., Rossor, Martin, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johanne, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthia, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlo, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nichola, Kurth, Tobia, Ligthart, Lannie, Terwindt, Gisela M., Freilinger, Tobia, Ran, Caroline, Gordon, Scott D., Borck, Guntram, Adams, Hieab H.H., Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E., Schürks, Marku, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfon, Pozo-Rosich, Patricia, Hansen, Thoma, Werge, Thoma, Kaprio, Jaakko, Metspalu, Andre, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Van Den Maagdenberg, Arn M. 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Duque, F, Green, A, Klauck, S, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, T, Thompson, R, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, Mcintosh, A, Bergen, S, Schalling, M, Jamain, S, Maaser, A, Fischer, S, Reinbold, C, Fullerton, J, Guzman-Parra, J, Mayoral, F, Schofield, P, Cichon, S, Mühleisen, T, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, P, Gershon, E, Rice, J, Potash, J, Zandi, P, Craddock, N, Nicol Ferrier, I, Alda, M, Rouleau, G, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, P, Cruceanu, C, Jones, I, Posthuma, D, Andlauer, T, Forstner, A, Streit, F, Baune, B, Air, T, Sinnamon, G, Wray, N, Macintyre, D, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, C, Hickie, I, Pergadia, M, Mehta, D, Smit, J, Jansen, R, De Geus, E, Dunn, E, Li, Q, Nauck, M, Schoevers, R, Beekman, A, Knowles, J, Viktorin, A, Arnold, P, Barr, C, Bedoya-Berrio, G, Joseph Bienvenu, O, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, E, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, G, Hartmann, A, Hirschtritt, M, Hoekstra, P, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, G, Macciardi, F, Madruga-Garrido, M, Malaty, I, Maras, A, Mcgrath, L, Miguel, E, Mir, P, Nestadt, G, Nicolini, H, Okun, M, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, E, Reus, V, Richter, M, Riddle, M, Robertson, M, Roessner, V, Rosário, M, Samuels, J, Sandor, P, Stein, D, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, J, Wolanczyk, T, Worbe, Y, Zai, G, Goes, F, Mclaughlin, N, Nestadt, P, Grabe, H, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, S, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, Mcdonald, C, Murphy, K, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, A, Schall, U, Schwab, S, Sim, K, So, H, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, P, Henskens, F, Mattingsdal, M, Oh, S, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, C, Daly, M, Dichgans, M, Faraone, S, Guerreiro, R, Holmans, P, Kendler, K, Koeleman, B, Mathews, C, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, N, Cotsapas, C, Palotie, A, Smoller, J, Sullivan, P, Rosand, J, Corvin, A, Neale, B, Kauwe, John S. K., Mcquillin, Andrew, Adams, Hieab H. H., Mccormack, Mark, Bau, Claiton H. D., Mcgough, James J., Mcintosh, Andrew, Andlauer, Till F. M., Macintyre, Donald J., Mcgrath, Lauren, Mclaughlin, Nicole, Delisi, Lynn, Mcdonald, Colm, Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement (Inserm U1167 - RID-AGE - Institut Pasteur), RIKEN Center for Integrative Medical Science, Neuropsychiatrie : recherche épidémiologique et clinique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), University of South Florida (USF), University of Zürich [Zürich] (UZH)-Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology in Zürich [Zürich] (ETH Zürich), Alzheimer Precision Medicine GRC n°21 (APM), CHU Pitié-Salpêtrière [APHP], Cardiff University-Medical Research Council, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Johannes Kepler University Linz [linz] (JKU), Washington University in St Louis, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Universitat Autònoma de Barcelona [Barcelona] (UAB), Hôpital Erasme (Bruxelles), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Jagiellonian University [Krakow] (UJ), Technische Universität Dresden (TUD), National and Kapodistrian University of Athens = University of Athens (NKUA | UoA), Charles University [Prague], Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), University of Bergen (UIB), University Medicine Goettingen, Università di Bologna [Bologna] (UNIBO), Forschungszentrum Jülich GmbH, UNSW Medicine [Sydney], McGill University, Universidad de Antioquia, University of Florida [Gainesville], Universiteit Gent [Ghent], Service Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], University of Wollongong, Alzheimer Precision Medicine [CHU Pitié-Salpétriêre] (GRC 21 APM), Anttila, Verneri [0000-0002-0073-4675], Finucane, Hilary K [0000-0003-3864-9828], Walters, Raymond K [0000-0001-8422-6530], Duncan, Laramie [0000-0003-1131-661X], Escott-Price, Valentina [0000-0003-1784-5483], Falcone, Guido J [0000-0002-6407-0302], Gormley, Padhraig [0000-0002-8908-6968], Malik, Rainer [0000-0001-9212-2520], Ripke, Stephan [0000-0003-3622-835X], Wei, Zhi [0000-0001-6059-4267], Yu, Dongmei [0000-0001-7901-4365], Lee, Phil H [0000-0003-1770-3100], Breen, Gerome [0000-0003-2053-1792], Bulik, Cynthia M [0000-0001-7772-3264], Daly, Mark [0000-0002-0949-8752], Dichgans, Martin [0000-0002-0654-387X], Faraone, Stephen V [0000-0002-9217-3982], Holmans, Peter [0000-0003-0870-9412], Koeleman, Bobby [0000-0001-7749-182X], Mathews, Carol A [0000-0003-2208-7058], Sklar, Pamela [0000-0001-9715-4943], Williams, Julie [0000-0002-4069-0259], Wood, Nicholas W [0000-0002-9500-3348], Cotsapas, Chris [0000-0002-7772-5910], Smoller, Jordan W [0000-0002-0381-6334], Sullivan, Patrick [0000-0002-6619-873X], Rosand, Jonathan [0000-0002-1014-9138], Corvin, Aiden [0000-0001-6717-4089], Neale, Benjamin M [0000-0003-1513-6077], and Apollo - University of Cambridge Repository
Subjects: Etiology, [SDV]Life Sciences [q-bio], MESH: Brain Diseases, body-mass index, genetics [Mental Disorders], Disorders of the Brain, Risks factors, classification [Mental Disorders], MESH: Quantitative Trait, Heritable, MESH: Risk Factors, Risk Factors, MESH: Genetic Variation, alzheimers-disease, 610 Medicine & health, bipolar disorder, Brain Diseases, deficit hyperactivity disorder, Multidisciplinary, Mental Disorders, genetics [Brain Diseases], Brain Disease, Brain, Genetic Variation, Genome-Wide Association Study, Humans, Phenotype, Quantitative Trait, Heritable, Psychiatric Disorders, anorexia-nervosa, Mental Disorder, Psychiatric Genomics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], long-term survival, Engineering sciences. Technology, Human, General Science & Technology, population-based twin, diagnosis [Mental Disorders], MESH: Phenotype, Neurological Disorders, Quantitative Trait, MD Multidisciplinary, MESH: Mental Disorders, diagnosis [Brain Diseases], Heritable, genetic correlations, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, major depressive disorder, Risk Factor, Brain Diseases/classification, Brain Diseases/diagnosis, Brain Diseases/genetics, Mental Disorders/classification, Mental Disorders/diagnosis, Mental Disorders/genetics, classification [Brain Diseases], Perturbações do Desenvolvimento Infantil e Saúde Mental, ddc:320, MESH: Genome-Wide Association Study, genome-wide association, Brainstorm Consortium, Genetic Factors, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities’ assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer’s disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important “scaffolding” to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders.
Published: 2018

16. A state of the art review on optimal practices to prevent, recognize, and manage complications associated with intravascular devices in the critically ill

Author: Olivier Mimoz, Thiago Lisboa, Vineet Chopra, Jean-Jacques Parienti, Jean-François Timsit, Emilio Bouza, Kevin B. Laupland, Walter Zingg, Tarja J. Karpanen, Garyphalia Poulakou, Mark E. Rupp, Leonard A. Mermel, Bertrand Souweine, Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC), University of Nebraska Medical Center, University of Nebraska System, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Hospital General Universitario 'Gregorio Marañón' [Madrid], University of Michigan [Ann Arbor], University of Michigan System, Queens Elizabeth Hospital [Birmingham], Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospital de Clínicas de Porto Alegre (HCPA), Warren Alpert Medical School of Brown University, Pharmacologie des anti-infectieux (PHAR), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Université de Poitiers - Faculté de Médecine et de Pharmacie, Université de Poitiers, Unité de Biostatistique et de Recherche Clinique (UBRC), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Groupe de Recherche sur l'Adaptation Microbienne (GRAM 2.0), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Université d'Athènes (UOA), Laboratoire Microorganismes : Génome et Environnement (LMGE), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Centre National de la Recherche Scientifique (CNRS)-Université d'Auvergne - Clermont-Ferrand I (UdA), Hôpitaux Universitaires de Genève (HUG), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Microbiology and Infectious Diseases Department, Universidad Complutense de Madrid [Madrid] (UCM), Service d'anesthésie réanimation [Poitiers], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), and Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, medicine.medical_specialty, Catheterization, Central Venous, Critical Illness, Intravascular catheter, Critical Care and Intensive Care Medicine, Critical Care Nursing, 03 medical and health sciences, 0302 clinical medicine, Catheters, Indwelling, Multidisciplinary approach, Risk Factors, Anesthesiology, Sepsis, Catheterization, Peripheral, Medicine, Central Venous Catheters, Humans, 030212 general & internal medicine, Intensive care medicine, Pulmonary emboli, Critically ill, ComputingMilieux_MISCELLANEOUS, Aged, Aged, 80 and over, ddc:616, business.industry, 030208 emergency & critical care medicine, Thrombosis, State of the art review, Process of care, Middle Aged, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Practice Guidelines as Topic, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Female, business
Abstract: Intravascular catheters are inserted into almost all critically ill patients. This review provides up-to-date insight into available knowledge on epidemiology and diagnosis of complications of central vein and arterial catheters in ICU. It discusses the optimal therapy of catheter-related infections and thrombosis. Prevention of complications is a multidisciplinary task that combines both improvement of the process of care and introduction of new technologies. We emphasize the main component of the prevention strategies that should be used in critical care and propose areas of future investigation in this field.
Published: 2018

17. Emotional reactivity, functioning, and C-reactive protein alterations in remitted bipolar patients: Clinical relevance of a dimensional approach

Author: Ophélia Godin, Jean-Pierre Kahn, Katia M’Bailara, Thierry Bougerol, Marion Leboyer, Aroldo A. Dargél, Frank Bellivier, Bruno Etain, J.M. Azorin, Vânia Hirakata, Philippe Courtet, Chantal Henry, Valerie Aubin, Christine Passerieux, Université Pierre et Marie Curie - Paris 6 (UPMC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Pôle de psychiatrie, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud )-CHU Marseille, Neurobiologie et Psychiatrie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Psychiatrie, CHU Grenoble, Centre Hospitalier Universitaire [Grenoble] (CHU), Service de Psychiatrie et Psychologie Clinique, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Hôpital Jeanne-d'Arc, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Fondation FondaMental [Créteil], Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Psychiatrie Translationnelle (Equipe 15), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10-Réseau de coopération scientifique en santé mentale, Fondation FondaMental [Créteil]-Fondation FondaMental [Créteil], Perception et Mémoire, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Epidémiologie, stratégies thérapeutiques et virologie cliniques dans l'infection à VIH, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Groupe Henri Mondor-Albert Chenevier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Hospital de Clínicas de Porto Alegre (HCPA), Centre hospitalier Charles Perrens [Bordeaux], Laboratoire de Psychologie, santé et qualité de la vie (EA 4139), Université de Bordeaux (UB), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre Hospitalier de Versailles André Mignot (CHV), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre Hospitalier Princesse Grace, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cannard, Christine, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Réseau de coopération scientifique en santé mentale, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), and Hôpital Charles Perrens
Subjects: Adult, Male, Mood instability, Bipolar disorder, [SDV]Life Sciences [q-bio], emotional reactivity, C-reactive protein, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Clinical significance, Affective Symptoms, Reactivity (psychology), ComputingMilieux_MISCELLANEOUS, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, biology, business.industry, dimensional approach, General Medicine, Middle Aged, medicine.disease, 030227 psychiatry, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Cross-Sectional Studies, Disease Progression, biology.protein, Female, psychosocial functioning, business, Neuroscience, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Objectives: Inter-episode mood instability has increasingly been considered in bipolar disorder. This study aimed to investigate emotional reactivity as a major dimension for better characterizing remitted bipolar patients with subthreshold mood symptoms and functional status. This study also aimed to investigate whether high-sensitivity C-reactive protein, a marker of low-grade inflammation, could be a biological marker of emotional dysregulation in bipolar disorder (BD). Methods: Cross-sectional study of 613 subjects who met Diagnostic and Statistical Manual of Mental Disorders–Fourth Edition criteria for BD recruited from the FondaMental Advanced Centers of Expertise in Bipolar Disorders cohort from 2009 to 2014. All patients had been in remission for at least 3 months before assessment. Patients were classified into three groups according to levels of emotional reactivity. Emotional reactivity was assessed by using the Multidimensional Assessment of Thymic States, and functional status was assessed by the Functioning Assessment Short Test. Clinical characteristics and blood sample were collected from all patients. Results: In total, 415 (68%) patients had abnormal emotional reactivity. Independent of potential confounders, including age, gender and subthreshold mood symptoms, serum levels of high-sensitivity C-reactive protein were significantly higher in patients with emotional hyper-reactivity (median = 4.0 mg/L, interquartile range = 2.7–5.6), and with emotional hypo-reactivity (median = 3.0 mg/L, interquartile range = 1–4) compared with patients with normal emotional reactivity (median = 0.95 mg/L, interquartile range = 0.4–1.9, p Conclusions: Emotional reactivity appears to be a relevant dimension for better characterizing remitted bipolar patients with subthreshold mood symptoms. Levels of high-sensitivity C-reactive protein may be an objective marker of emotional dysregulation in BD. Further studies are needed to confirm our findings.
Published: 2017

18. What is the impact of local control in Ewing sarcoma: Analysis of the first Brazilian collaborative study group - EWING

Author: Becker, Ricardo G., Gregianin, Lauro J., Galia, Carlos R., Filho, Reynaldo Jesus-Garcia, Toller, Eduardo A., Badell, Gerardo, Nakagawa, Suely A., David, Alexandre, Baptista, André M., Yonamime, Eduardo S., Serafini, Osvaldo A., Penna, Valter [UNESP], Santos, Julie Francine C., Brunetto, Algemir L., Hospital de Clínicas de Porto Alegre (HCPA), Universidade Federal do Rio Grande do Sul (UFRGS), Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), HCPA, Universidade Federal de São Paulo (UNIFESP), Hospital de Câncer Infantojuvenil, Centro Hospitalario Pereira Rossell, Hospital A.C. Camargo Cancer Center, Santa Casa de Misericórdia de Porto Alegre, Universidade de São Paulo (USP), Santa Casa de Misericórdia de São Paulo (HSCSP), Universidade Estadual Paulista (Unesp), and Instituto do Câncer Infantil
Subjects: Orthopedics, Local control, Bone tumors, Surgery, Radiation oncology, Ewing sarcoma
Abstract: Made available in DSpace on 2018-12-11T17:14:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-01-01 Background: Relapse in localized Ewing sarcoma patients has been a matter of concern regarding poor prognosis. Therefore, we investigated the impact of local control modality (surgery, surgery plus radiotherapy, and radiotherapy) on clinical outcomes such as survival and recurrence in patients with non-metastatic Ewing sarcoma treated on the first Brazilian Collaborative Group Trial of the Ewing Family of Tumors (EWING1). Methods: Seventy-three patients with localized Ewing sarcoma of bone aged < 30 years were included. The treating physicians defined the modality of local control based on the recommendations of the coordinating center and the patient and tumor characteristics. Possible associations of local control modality with local failure (LF), disease-free survival (DFS), event-free survival (EFS), overall survival (OS), and clinical characteristics were analyzed. Results: Mean patient age was 12.8 years (range, 2 to 25 years) and median follow-up time was 4.5 years (range, 2. 3 to 6.7 years). Forty-seven patients underwent surgery, 13 received radiotherapy, and 13 received both. The 5-year EFS, OS, and DFS for all patients was 62.1%, 63.3%, and 73.1%, respectively. The 5-year cumulative incidence (CI) of LF was 7.6% for surgery, 11.1% for radiotherapy, and 0% for postoperative radiotherapy (PORT) (p = 0.61). The 5-year EFS was 71.7% for surgery, 30.8% for radiotherapy, and 64.1% for PORT (p = 0.009). Conclusions: There was a significant effect of local control modality on EFS and OS in the study. Surgery and PORT modalities yielded very close results. The group treated with radiotherapy alone had considerably worse outcomes. This may be confounded by greater risk factors in these patients. There was no significant effect of local control modality on the CI of LF and DFS. Service of Orthopedics and Traumatology Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos, 2350, Bairro Santa Cecilia Department of Pediatrics HCPA Universidade Federal do Rio Grande do Sul (UFRGS) Department of Pediatrics Hospital São Lucas Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) Service of Orthopedics and Traumatology HCPA Support Group for Children and Adolescents with Cancer (GRAACC) Universidade Federal de São Paulo (UNIFESP) Fundação Pio XII Hospital de Câncer Infantojuvenil Centro Hospitalario Pereira Rossell Orthopedics Service Hospital A.C. Camargo Cancer Center Service of Orthopedics and Traumatology Santa Casa de Misericórdia de Porto Alegre Orthopedic Trauma Institute Hospital das Clínicas de São Paulo School of Medicine Universidade de São Paulo (USP) Department of Orthopedics and Traumatology Santa Casa de Misericórdia de São Paulo (HSCSP) Service of Orthopedics and Traumatology Hospital São Lucas Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) Hospital das Clínicas deBotucatu School of Medicine Universidade Estadual Paulista (UNESP) Instituto do Câncer Infantil Hospital das Clínicas deBotucatu School of Medicine Universidade Estadual Paulista (UNESP)
Published: 2017

19. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

Author: Mathias Beck, Atul Mehta, Roberto Giugliani, Aleš Linhart, Perry M. Elliott, Gere Sunder-Plassmann, Jtr Clarke, Royal Free Hospital, London, Hospital for Sick Children, Toronto, Hospital de Clínicas de Porto Alegre (HCPA), The Heart Hospital [London], University College of London [London] (UCL), Charles University [Prague] (CU), University of Mainz, Johannes Gutenberg - Universität Mainz (JGU), and Medizinische Universität Wien = Medical University of Vienna
Subjects: Adult, Male, medicine.medical_specialty, Metabolic disorders, Cardiomyopathy, Disease, 030204 cardiovascular system & hematology, Cohort Studies, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Cause of Death, Internal medicine, Genetics, medicine, Humans, Lipid disorders, Genetic epidemiology, Child, Genetics (clinical), Cause of death, Chi-Square Distribution, Vascular disease, business.industry, Data Collection, Enzyme replacement therapy, medicine.disease, Fabry disease, 3. Good health, Cohort, Fabry Disease, Female, Kidney Diseases, business, 030217 neurology & neurosurgery, Cohort study
Abstract: Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men and women. Over the past 7 years, the Fabry Outcome Survey (FOS) has collected data on the natural history of Fabry disease, and the long-term efficacy and safety of enzyme-replacement therapy. This paper provides an update on the first analysis of FOS data. Design: Baseline data on clinical manifestations and causes of death in a cohort of 1453 patients (699 male, 754 female) from 19 countries worldwide were analysed. Causes of death of affected relatives were analysed separately. Results: The most frequently reported signs and symptoms of Fabry disease were neurological. Cardiac, ocular, gastrointestinal, dermatological, auditory and renal manifestations were also common. The principal causes of death among 181 affected relatives of patients in FOS (most of whom had died before 2001) were renal failure in males (42%) and cerebrovascular disease in females (25%). In contrast, of the 42 patients enrolled in FOS whose deaths were reported between 2001 and 2007, cardiac disease was the main cause of death in both male (34%) and female (57%) patients. Conclusion: These data suggest that the importance of renal disease as a cause of death in patients with Fabry disease is decreasing while the importance of cardiac disease is increasing. This pattern probably reflects improvements in the management of renal disease in patients with Fabry disease.
Published: 2009

20. A collaborative sequential meta-analysis of individual patient data from randomized trials of endovascular therapy and tPA vs. tPA alone for acute ischemic stroke: T h R omb E ctomy A nd t PA (TREAT) analysis: statistical analysis plan for a sequential meta-analysis performed within the VISTA-Endovascular collaboration

Author: Macisaac, Rachael, Khatri, Pooja, Bendszus, Martin, Bracard, Serge, Broderick, Joseph, Campbell, Bruce, Ciccone, Alfonso, Dávalos, Antoni, Davis, Stephen, Demchuk, Andrew, Diener, Hans-Christoph, Dippel, Diederik, Donnan, Geoffrey, Fiehler, Jens, Fiorella, David, Goyal, Mayank, Hacke, Werner, Hill, Michael, Jahan, Reza, Jauch, E, Jovin, Tudor, Kidwell, Chelsea, Liebeskind, David, Majoie, Charles, Martins, Sheila Cristina Ouriques, Mitchell, Peter, Mocco, J., Muir, Keith, Nogueira, Raul, Saver, Jeffrey, Schonewille, Wouter, Siddiqui, Adnan, Thomalla, Götz, Tomsick, Thomas, Turk, Aquilla, White, Philip, Zaidat, Osama, Lees, Kennedy, Institute of Cardiovascular and Medical Sciences [Glasgow], University of Glasgow, University of Cincinnati (UC), Heidelberg University Hospital [Heidelberg], Département de neuroradiologie diagnostique et thérapeutique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Imagerie Adaptative Diagnostique et Interventionnelle (IADI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), The Royal Melbourne Hospital, ASST Mantova, Hospital Universitario Germans Trias I Pujol, University of Calgary, Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Melbourne, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Stony Brook University [SUNY] (SBU), State University of New York (SUNY), Hotchkiss Brain Institute, Universität Heidelberg [Heidelberg], University of California [Los Angeles] (UCLA), University of California, Medical University of South Carolina [Charleston] (MUSC), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Arizona, Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Hospital de Clínicas de Porto Alegre (HCPA), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Institute of Neurosciences and Psychology [Glasgow], Southern General Hospital, Glasgow, Massachusetts General Hospital [Boston], St. Antonius Hospital [Nieuwegein], University at Buffalo [SUNY] (SUNY Buffalo), Newcastle University [Newcastle], Medical College of Wisconsin, Neurology, Amsterdam Cardiovascular Sciences, Amsterdam Neuroscience, and Radiology and Nuclear Medicine
Subjects: Male, Analysis of Variance, treatment, Endovascular Procedures, Medizin, acute, protocols, Stroke, meta-analysis, Treatment Outcome, Meta-Analysis as Topic, Tissue Plasminogen Activator, ischemic stroke, Humans, endovascular, Female, cardiovascular diseases, Cooperative Behavior, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Randomized Controlled Trials as Topic
Abstract: RationaleEndovascular treatment has been shown to restore blood flow effectively. Second-generation medical devices such as stent retrievers are now showing overwhelming efficacy in clinical trials, particularly in conjunction with intravenous recombinant tissue plasminogen activator. Aims and DesignThis statistical analysis plan utilizing a novel, sequential approach describes a prospective, individual patient data analysis of endovascular therapy in conjunction with intravenous recombinant tissue plasminogen activator agreed upon by the Thrombectomy and Tissue Plasminogen Activator Collaborative Group. Study OutcomesThis protocol will specify the primary outcome for efficacy, as favorable' outcome defined by the ordinal distribution of the modified Rankin Scale measured at three-months poststroke, but with modified Rankin Scales 5 and 6 collapsed into a single category. The primary analysis will aim to answer the questions: what is the treatment effect of endovascular therapy with intravenous recombinant tissue plasminogen activator compared to intravenous tissue plasminogen activator alone on full scale modified Rankin Scale at 3 months?' and to what extent do key patient characteristics influence the treatment effect of endovascular therapy?'. Key secondary outcomes include effect of endovascular therapy on death within 90 days; analyses of modified Rankin Scale using dichotomized methods; and effects of endovascular therapy on symptomatic intracranial hemorrhage. Several secondary analyses will be considered as well as expanding patient cohorts to intravenous recombinant tissue plasminogen activator-ineligible patients, should data allow. DiscussionThis collaborative meta-analysis of individual participant data from randomized trials of endovascular therapy vs. control in conjunction with intravenous thrombolysis will demonstrate the efficacy and generalizability of endovascular therapy with intravenous thrombolysis as a concomitant medication.
Published: 2015

21. Acolhimento com classificação de risco em serviço de emergência na perspectiva do idoso

Author: Furquim Gonçalves, Ana Valéria, Becker Kottwitz Bierhals, Carla Cristiane, Manganelli Girardi Paskulin, Lisiane, and Fundo de Incentivo à Pesquisa e Eventos (FIPE) do Hospital de Clínicas de Porto Alegre (HCPA)
Subjects: Serviço hospitalar de emergência, Enfermagem, Saúde do Idoso, Enfermagem geriátrica, Acolhimento, Idoso
Abstract: Objetivo: Avaliar as práticas de Acolhimento na Classificação de Risco do Serviço de Emergência do Hospital de Clínicas de Porto Alegre na perspectiva do idoso.Métodos: Pesquisa qualitativa do tipo estudo de caso, realizada com 30 idosos, por meio de entrevista semiestruturada, no período de julho a novembro de 2010. As informações foram analisadas por análise temática com apoio do software Nvivo.Resultados: As respostas centraram-se no tempo de atendimento e no processo de trabalho. A prática do acolhimento com classificação de risco melhorou o processo de trabalho e destacou a atuação do enfermeiro de modo direto com o usuário.Considerações finais: O atendimento de necessidades do idoso, o respeito ao tempo previsto pelo protocolo e o trabalho em rede interna e externa podem ser melhorados a fim de qualificar a atenção a esses usuários.Palavras-chave: Acolhimento. Enfermagem geriátrica. Serviço hospitalar de emergência. Enfermagem. Idoso.
Published: 2015

22. State of Acute Endovascular Therapy

Author: Khatri, Pooja, Hacke, Werner, Fiehler, Jens, Saver, Jeffrey, Diener, Hans-Christoph, Bendszus, Martin, Bracard, Serge, Broderick, Joseph, Campbell, Bruce, Ciccone, Alfonso, Dávalos, Antoni, Davis, Stephen, Demchuk, Andrew, Dippel, Diederik, Donnan, Geoffrey, Fiorella, David, Goyal, Mayank, Hill, Michael, Jauch, Edward, Jovin, Tudor, Kidwell, Chelsea, Majoie, Charles, Martins, Sheila Cristina Ouriques, Mitchell, Peter, Mocco, J., Muir, Keith, Nogueira, Raul, Schonewille, Wouter, Siddiqui, Adnan, Thomalla, Götz, Tomsick, Thomas, Turk, Aquilla, White, Philip, Zaidat, Osama, Liebeskind, David, Fulton, Rachel, Lees, Kennedy, Department of Neurology and Rehabilitation Medicine [Cincinnati], University of Cincinnati (UC), Department of Neurology [University of Heidelberg], Universität Heidelberg [Heidelberg]-Heidelberg University Hospital [Heidelberg], Departments of Diagnostic and Interventional Neuroradiology [MC Hamburg-Eppendorf], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Comprehensive Stroke Center, University of California [Los Angeles] (UCLA), University of California-University of California, Department of Neurology [UCLA], University of California-University of California-David Geffen School of Medicine [Los Angeles], Department of Neurology [Duisburg-Essen], Universität Duisburg-Essen [Essen], Department of Neuroradiology [Universität Heidelberg], Département de neuroradiologie diagnostique et thérapeutique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Imagerie Adaptative Diagnostique et Interventionnelle (IADI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Department of Medicine and Neurology [University of Melbourne], University of Melbourne, Carlo Poma Hospital Mantova (ASST Mantova ), Department of Neurosciences [Universitat Autònoma de Barcelona], Universitat Autònoma de Barcelona (UAB), Department of Clinical Neuroscience [University of Calgary], University of Calgary, Department of Neurology [University of Calgary], Erasmus University Medical Center [Rotterdam] (Erasmus MC), The Florey Institute of Neuroscience and Mental Health, Department of Neurosurgery [Stony Brook University], Stony Brook University [SUNY] (SBU), State University of New York (SUNY)-State University of New York (SUNY), Department of Diagnostic and Interventional Neuroradiology [University of Calgary], Departments of Clinical Neurosciences and Oncology [University of Calgary], Department of Emergency Medicine [Medical University of South Carolina], Medical University of South Carolina [Charleston] (MUSC), Department of Neurology [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Department of Neurology [University of Arizona], University of Arizona, Department of Medical Imaging [University of Arizona], Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Hospital de Clínicas de Porto Alegre (HCPA), Department of Radiology, Royal Melbourne Hospital, Melbourne University, VIC, Parkville, Australia, department of Radiology, Royal Melbourne Hospital-Royal Melbourne Hospital, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Institute of Neurosciences and Psychology [Glasgow], University of Glasgow, Emory University [Atlanta, GA], Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, University at Buffalo [SUNY] (SUNY Buffalo), State University of New York (SUNY), Department of Neurology [MC Hamburg-Eppendorf], Department of Radiology [Cincinnati], Departments of Radiology and Neurosurgery [Medical University of South Carolina], Institute of Neuroscience [Newcastle] (ION), Newcastle University [Newcastle], Medical College of Wisconsin, and Institute of Cardiovascular and Medical Sciences [Glasgow]
Subjects: thrombectomy, clinical trial, ComputingMilieux_MISCELLANEOUS, thrombolysis therapy, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience
Published: 2015

23. Assessing Mental Health During an Extreme Weather Event in Southern Brazil.

Author: Diefenthaeler SM, Cacilhas A, Hartmann ML, Prates-Baldez D, and Hauck S
Abstract: Objective: This study aimed to evaluate mental health factors in individuals affected by the floods in Rio Grande do Sul from May 10 to June 6, 2024., Methods: A real-time survey was conducted with 1,552 participants. The Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), and Acute Stress Disorder (ASD) symptom checklist were used to assess mental health outcomes. Sociodemographic factors, trauma exposure, rescue participation, and psychological support were evaluated. Statistical analyses included t-tests, ANOVA, linear regression, and MANCOVA., Results: High rates of depressive and anxious symptoms were found, with over half of the individuals with moderate to severe symptoms reporting no prior history of these conditions. Participants directly affected by the floods, and those with close ones affected, had higher PHQ-9, GAD-7, and ASD scores compared to the unaffected group. Moreover, younger age, female sex, lower family income, participation in rescues, and unmet psychological support needs were correlated with worse mental health outcomes. Individuals who participated in rescues had significantly higher rates of suicide ideation. Notably, psychological support had the largest effect size in mitigating mental health symptoms, regardless of trauma exposure status, when controlled for age, sex, and income according to MANCOVA., Conclusions: The findings highlight the critical role of psychological support in disaster response and the importance of community resilience. Real-time data collection during crises can inform targeted interventions, emphasizing the need for robust mental health services and community support networks. These efforts are essential to reduce long-term psychological morbidity and foster recovery in vulnerable populations., Competing Interests: No conflicts of interest declared concerning the publication of this article.
Published: 2024
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24. Psychometric properties of an online psychotherapy advantages and disadvantages instrument: Preliminary results of a multi-center pilot study.

Author: Santos JM, Fleck MPA, Teche SP, Passos IC, Costa MH, and Rocha NS
Abstract: We verified the need for instruments that could assess the perceptions of patients, therapists, and psychotherapy supervisors about online Psychotherapy., Objectives: to Build a scale of advantages and disadvantages of online psychotherapy., Method: A pilot cross-sectional multicenter sample collected from 2020 to 2021 of 129 patients, 20 therapists, and 35 supervisors. We used several analyses. The final scale contained 22 items divided into two domains: advantages and disadvantages., Results: Cronbach's alpha showed good internal consistency (0.88 and 0.85). The scale showed discriminative ability. Convergent validity showed significant correlations between WAI-SR domains (p 〈0,001). The scale showed a good data fit in the confirmatory factor analysis (X 2 = 255,859; DF = 197; p = .003; CFI = 0.95; RMSEA = 0.047; GFI = 0.84 TLI = 0.94)., Conclusion: This pilot study showed that the instrument proved preliminary good psychometric properties but needs to be evaluated in a larger sample., Competing Interests: Declaration of competing interest The authors do not have any conflicts of interest to report., (Copyright © 2024. Published by Elsevier B.V.)
Published: 2024
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25. The debate on antifibrinolytics in liver transplantation: always, never, or sometimes?

Author: Martinelli ES, McCluskey SA, Karkouti K, Luzzi CA, Bieze M, Malbouisson LMS, and Schmidt AP
Abstract: Competing Interests: Conflicts of interest The authors declare no conflicts of interest.
Published: 2024
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26. The efficacy of buprenorphine compared with dexmedetomidine in spinal anesthesia: a systematic review and meta-analysis.

Author: Cansian JM, D'Angelo Giampaoli AZ, Immich LC, Schmidt AP, and Dias AS
Subjects: Humans, Randomized Controlled Trials as Topic, Postoperative Nausea and Vomiting epidemiology, Dexmedetomidine administration & dosage, Anesthesia, Spinal methods, Buprenorphine administration & dosage, Analgesics, Opioid administration & dosage
Abstract: Background: This study compares dexmedetomidine and buprenorphine as potential adjuvants for spinal anesthesia. Dexmedetomidine enhances sensory block and minimizes the need for pain medication, while buprenorphine, a long-acting opioid, exhibits a favorable safety profile compared to traditional opioids., Methods: PubMed, Cochrane and EMBASE were systematically searched in December 2023., Eligibility Criteria: RCTs with patients scheduled for lower abdominal, pelvic, or lower limb surgeries; undergoing spinal anesthesia with a local anesthetic and buprenorphine or dexmedetomidine., Results: Eight RCTs involving 604 patients were included. Compared with dexmedetomidine, buprenorphine significantly reduced time for sensory regression to S1 (Risk Ratio [RR = -131.28]; 95% CI -187.47 to -75.08; I 2 = 99%) and motor block duration (RR = -118.58; 95% CI -170.08 to -67.09; I 2 = 99%). Moreover, buprenorphine increased the onset time of sensory block (RR = 0.42; 95% CI 0.03 to 0.81; I 2 = 93%) and increased the incidence of postoperative nausea and vomiting (RR = 4.06; 95% CI 1.80 to 9.18; I ² = 0%). No significant differences were observed in the duration of analgesia, onset time of motor block, time to achieve the highest sensory level, shivering, hypotension, or bradycardia., Conclusions: The intrathecal administration of buprenorphine, when compared to dexmedetomidine, is linked to reduction in the duration of both sensory and motor blocks following spinal anesthesia. Conversely, buprenorphine was associated with an increased risk of postoperative nausea and vomiting and a longer onset time of sensory block. Further high-quality RCTs are essential for a comprehensive understanding of buprenorphine's effects compared with dexmedetomidine in spinal anesthesia., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest., (Copyright © 2024 Sociedade Brasileira de Anestesiologia. Published by Elsevier España S.L.U. All rights reserved.)
Published: 2024
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27. Diffusion tensor metrics, motor and non-motor symptoms in de novo Parkinson's disease.

Author: Soares NM, da Silva PHR, Pereira GM, Leoni RF, Rieder CRM, and Alva TAP
Subjects: Humans, Male, Female, Middle Aged, Case-Control Studies, Anisotropy, White Matter diagnostic imaging, White Matter pathology, Aged, Parkinson Disease diagnostic imaging, Diffusion Tensor Imaging methods
Abstract: Introduction: Parkinson's disease (PD) is a neurodegenerative disorder characterized by dopaminergic neurons' degeneration of the substantia nigra, presenting with motor and non-motor symptoms. We hypothesized that altered diffusion metrics are associated with clinical symptoms in de novo PD patients., Methods: Fractional Anisotropy (FA) and Mean (MD), Axial (AD), and Radial Diffusivity (RD) were assessed in 55 de novo PD patients (58.62 ± 9.85 years, 37 men) and 55 age-matched healthy controls (59.92 ± 11.25 years, 34 men). Diffusion-weighted images and clinical variables were collected from the Parkinson's Progression Markers Initiative study. Tract-based spatial statistics were used to identify white matter (WM) changes, and fiber tracts were localized using the JHU-WM tractography atlas. Motor and non-motor symptoms were evaluated in patients., Results: We observed higher FA values and lower RD values in patients than controls in various fiber tracts (p-TFCE < 0.05). No significant MD or AD difference was observed between groups. Diffusion metrics of several regions significantly correlated with non-motor (state and trait anxiety and daytime sleepiness) and axial motor symptoms in the de novo PD group. No correlations were observed between diffusion metrics and other clinical symptoms evaluated., Conclusion: Our findings suggest microstructural changes in de novo PD fiber tracts; however, limited associations with clinical symptoms reveal the complexity of PD pathology. They may contribute to understanding the neurobiological changes underlying PD and have implications for developing targeted interventions. However, further longitudinal research with larger cohorts and consideration of confounding factors are necessary to elucidate the underlying mechanisms of these diffusion alterations in de novo PD., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Published: 2024
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28. Lactate administration causes long-term neuroprotective effects following neonatal hypoxia-ischemia.

Author: Tassinari ID, Zang J, Ribeiro NH, Martins BB, Tauffer JVM, Nunes RR, Sanches EF, Sizonenko S, Netto CA, Paz AH, and de Fraga LS
Subjects: Animals, Rats, Female, Male, Disease Models, Animal, Recognition, Psychology drug effects, Exploratory Behavior drug effects, Hypoxia-Ischemia, Brain pathology, Hypoxia-Ischemia, Brain metabolism, Animals, Newborn, Rats, Wistar, Neuroprotective Agents pharmacology, Neuroprotective Agents therapeutic use, Lactic Acid metabolism
Abstract: Neonatal hypoxia-ischemia (HI) is one of the main causes of mortality and long-term disabilities in newborns, and the only clinical approach to treat this condition is therapeutic hypothermia, which shows some limitations. Thus, putative neuroprotective agents have been tested in animal models of HI. Lactate is a preferential metabolic substrate of the neonatal brain and has already been shown to produce beneficial neuroprotective outcomes in neonatal animals exposed to HI. Here, we administered lactate as a treatment in neonatal rats previously exposed to HI and evaluated the impact of this treatment in adulthood. Seven-day-old (P7) male and female Wistar rats underwent permanent common right carotid occlusion combined with an exposition to a hypoxic atmosphere (8% oxygen) for 60 min. Animals were assigned to one of four experimental groups: HI, HI+LAC, SHAM, SHAM+LAC. Lactate was administered intraperitoneally 30 min and 2 h after hypoxia in HI+LAC and SHAM+LAC groups, whereas HI and SHAM groups received vehicle. Animals were tested in the behavioral tasks of negative geotaxis and righting reflex (P8), cylinder test (P24), and the modified neurological severity score was calculated (P25). Open field (OF), and novel object recognition (NOR) were evaluated in adulthood. Animals were killed at P60, and the brains were harvested and processed to evaluate the volume of brain injury. Our results showed that lactate administration reduced the volume of brain lesion and improved sensorimotor and cognitive behaviors in neonatal, juvenile, and adult life in HI animals from both sexes. Thus, lactate administration might be considered as a potential neuroprotective strategy for the treatment of neonatal HI, which is a prevalent disorder affecting newborns., Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)
Published: 2024
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29. Beyond the Pandemic: Longitudinal Lessons on Social Support, Sleep Quality, and Burnout Among Healthcare Workers.

Author: Moser CM, Tietbohl-Santos B, Laskoski PB, and Hauck S
Abstract: Objectives: To assess occupational burnout (OB) changes among Brazilian healthcare workers (HCWs) from COVID-19 onset to 6 months later (T1) and identify risk and protective factors., Methods: Using the Copenhagen Burnout Inventory and hierarchical multivariate linear regression in a two-stage online survey (initial n = 1054; T1 n = 316), this study examined the impact of various factors on OB., Results: Significant increases in personal and work-related OB were observed by T1. Psychiatric diagnosis and workload emerged as risk factors ( P < 0.01), while having a partner, good family relations, workplace well-being, and adequate sleep were protective ( P < 0.001)., Conclusions: OB levels among Brazilian HCWs increased during the COVID-19 pandemic. Interventions should target personal and organizational wellness to alleviate burnout, emphasizing the importance of strong relationships, workplace health, and good sleep practices., Competing Interests: Conflict of interest for all authors: none declared., (Copyright © 2024 American College of Occupational and Environmental Medicine.)
Published: 2024
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30. Efficacy and safety of a 0.05 % nanoencapsulated imiquimod hydrogel for the treatment of actinic cheilitis: Drug release analysis and clinical study.

Author: da Silva EL, Pedraça ES, Salgueiro AP, Gazzi RP, Nunes JS, Cavagni J, Martins MAT, Rados PV, Pohlmann AR, Guterres SS, Frank LA, and Visioli F
Subjects: Humans, Male, Female, Middle Aged, Nanocapsules chemistry, Chitosan chemistry, Drug Liberation, Adult, Treatment Outcome, Aged, Imiquimod administration & dosage, Cheilitis drug therapy, Cheilitis pathology, Hydrogels chemistry
Abstract: Actinic cheilitis (AC) is a lip disorder, with no standard treatment. Imiquimod (IMIQ) is an immunomodulator that treat precancerous lesions; however, its commercial form causes severe adverse effects. This study aimed to assess IMQ release from a chitosan hydrogel containing 0.05 % nanoencapsulated (NANO) imiquimod (IMIQ-0.05 %-NANO) and its efficacy in AC treatment. The hydrogels were prepared by incorporating chitosan into polymeric nanocapsules (NCimiq) loaded with IMQ, produced using the interfacial deposition of preformed polymer method. IMQ release was evaluated using automated Franz Cells. A triple-blind randomized controlled trial (49 subjects) compared the efficacy of: IMIQ-0.05 %-NANO, 5 % free imiquimod (IMIQ-5 %), 0.05 % free imiquimod (IMIQ-0.05 %), and placebo hydrogel. The IMIQ-NANO-0.05 % and IMIQ-5 % groups exhibited significantly higher rates of clinical improvement (p < 0.05); however, the IMIQ-5 % group experienced more adverse effects (92.3 % of subjects) compared to other groups (p < 0.05). In conclusion, in the studied sample, IMIQ-NANO-0.05 % was a safe and effective option to treat AC., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have influenced the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)
Published: 2024
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31. Association between type of feeding at hospital discharge and nutritional status of Brazilian very preterm infants: a multicenter study.

Author: Soldateli B, Silveira RC, Procianoy RS, Edwards EM, and Belfort MB
Subjects: Humans, Infant, Newborn, Brazil, Female, Male, Infant Formula, Gestational Age, Intensive Care Units, Neonatal, Infant, Premature growth & development, Infant, Very Low Birth Weight growth & development, Birth Weight physiology, Infant Nutritional Physiological Phenomena physiology, Infant, Extremely Premature growth & development, Patient Discharge statistics & numerical data, Nutritional Status physiology, Milk, Human
Abstract: Objectives: To examine trends over time in diet and size of very preterm infants, and associations of diet with size at hospital discharge/transfer., Methods: The authors studied 4062 surviving very preterm infants born < 32 weeks' gestational age and < 1500 g between January 2012 and December 2020 from 12 Brazilian Neonatal Intensive Care Units. Diet type at discharge/transfer was classified as exclusive human milk, exclusive formula, or mixed. Outcomes were weight and head circumference at hospital discharge and the change in each from birth to discharge. The authors used linear regression to estimate adjusted associations of diet type with infant size, overall, and stratified by fetal growth category (small vs. appropriate for gestational age). The authors also examined trends in diet and infant size at discharge over the years., Results: Infants' mean gestational age at birth was 29.3 weeks, and the mean birth weight was 1136 g. Diet at discharge/transfer was exclusive human milk for 22 %, mixed for 62 %, and exclusive formula for 16 %. Infant size in weight and head circumference were substantially below the growth chart reference for all diets. Infants fed human milk and mixed diets were lighter and had smaller heads at discharge/transfer than infants fed formula only (weight z: -2.0, -1.8, and -1.5; head z: -1.3, -1.2 and -1.1 for exclusive human milk, mixed and exclusive formula respectively)., Conclusion: Results suggest high human milk use but gaps in nutrient delivery among hospitalized Brazilian very preterm infants, with little evidence of improvement over time., Competing Interests: Conflicts of interest The authors declare no conflicts of interest., (Copyright © 2024 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)
Published: 2024
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32. Beyond the bite: understanding and managing post-arboviral pain.

Author: Kraychete DC, Alencar VB, Barreto ESR, Antunes Júnior CR, Lins-Kusterer LEF, de Barros GAM, and Schmidt AP
Abstract: Competing Interests: Conflicts of interest The authors declare no conflicts of interest.
Published: 2024
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33. Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

Author: Silva IMW, Tacla MA, Ribeiro EM, Lustosa-Mendes E, Fett-Conte AC, Félix TM, Xavier AC, Monlleó IL, and Gil-da-Silva-Lopes VL
Subjects: Humans, Brazil, Cross-Sectional Studies, Retrospective Studies, Female, Male, Child, Child, Preschool, Adolescent, Infant, Cleft Lip genetics, Cleft Palate genetics, Genetic Testing, Health Services Accessibility statistics & numerical data
Abstract: Objective: The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil., Methods: This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered., Results: Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581)., Conclusions: Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC., Competing Interests: Conflicts of interest The authors declare no conflict of interest., (Copyright © 2024 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)
Published: 2024
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34. The community food environment as an effect modifier of the relationship between racial discrimination and food insecurity among adults in Southern Brazil.

Author: de Vargas EB, da Silva Dias M, Schuch I, Rosa PBZ, Fanton M, and Canuto R
Subjects: Humans, Brazil, Adult, Middle Aged, Cross-Sectional Studies, Male, Female, Aged, Young Adult, Residence Characteristics, Food Supply statistics & numerical data, Socioeconomic Factors, Racism psychology, Racism statistics & numerical data, Food Insecurity
Abstract: Background: Racial discrimination is linked to unhealthy food environments and a higher prevalence of food insecurity. However, no study has explored their interrelated effects. We analyzed the relationship between racial discrimination, community food environment, and food insecurity in adults of different socioeconomic status. We also investigated the potential modifying effect of the food environment on the relationship between racism and food insecurity., Methods: This was a cross-sectional study of 400 adults aged 20-70 years residing in the central area of Porto Alegre, the capital of Rio Grande do Sul state. Race and racial discrimination were assessed by self-reported race/skin color using the Experiences of Discrimination scale (EOD), respectively. The food environment was assessed using the Nutrition Environment Measures Survey in Stores (NEMS-S) tool. Food insecurity was assessed using the short version of the Brazilian Food Insecurity Scale (EBIA for short, in Portuguese). Poisson regression with robust variance was employed for the multivariate analysis., Results: The prevalence of food insecurity was higher in areas with a poorer food environment (areas 1 and 3; 56.6% and 58.8%, respectively). Racial discrimination was associated with food insecurity, where every 1-point increase in the racial discrimination score increased the likelihood of food insecurity by 7% (prevalence ratio [PR] 1.07; 95% CI, 1.03-1.20). When stratifying the analyses by food environment, racial discrimination was associated with food insecurity only in areas with a poorer food environment (PR 1.06; 95% CI, 1.01-1.10)., Conclusions: Experiences of racial discrimination were associated with a higher prevalence of food insecurity in the study population. The community food environment was an effect modifier of this relationship, highlighting the relevance of interventions in the food environment focused on areas with a greater presence of Black people as a way of combating racism and food insecurity., (© 2024. The Author(s).)
Published: 2024
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35. Long-term enzyme replacement therapy in Fabry patients protects against oxidative and inflammatory process.

Author: Moura AP, Hammerschmidt TG, Guerreiro G, Aguilar C, Faverzani JL, Lopes FF, de Oliveira Poswar F, Giugliani R, Deon M, and Vargas CR
Abstract: Fabry disease (FD) is an X-linked recessive lysosomal storage disorder, characterized by a deficiency of α-galactosidase, which causes the progressive accumulation of glycosphingolipids, especially globotriaosylsphingosine (Gb3), in lysosomes across multiple organs. Substrate deposition, associated with tissue damage in FD, also contributes to the emergence of a pro-inflammatory state presented by some patients. We investigated pro- and anti-inflammatory cytokines, and the expression of inflammation-associated genes in treated FD patients, as well as oxidative parameters. We found a decrease in the production of cytokines IL-1β, IL-6, IL-10, and TNF-α in male FD patients and a normalization of redox status in male and female FD patients, once the levels of protein, lipid oxidation, and nitrite and nitrate content were like healthy individuals. Our results suggest that long-term ERT in men with FD contributes to the reduction of a pro-inflammatory scenario and a decrease of oxidative damage in patients, reflecting greater control throughout the disease and in the multisystemic changes characteristic of this disorder. These findings lead us to believe that long-term ERT can improve the redox status and protect these individuals against oxidative and nitrative stress, as well as the inflammatory process., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Published: 2024
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36. Oral mucositis assessment in pediatric and adolescent oncological patients: A systematic review.

Author: Soares JB, de Farias Gabriel A, Kirschnick LB, Carrard VC, Curra M, Schuch LF, Martins MAT, and Martins MD
Abstract: Oral mucositis (OM) is a prevalent acute adverse effect of various cancer treatments. Accurate assessment of OM is vital for effective prevention and treatment strategies. However, a lack of validated pediatric instruments for evaluating OM can lead to unreliable data, and hinder interventional and epidemiological research. This study aims to evaluate the methods used for assessing OM in pediatric oncology patients. A systematic review of four databases and a manual search yielded 113 articles. Nine different scales were identified, with the World Health Organization (WHO) scale being the most commonly used (61.9%). The Children's International Mucositis Evaluation Scale (ChIMES) was used in 7.9% of the studies. Of the 8155 pediatric patients evaluated, 47.7% had both hematological malignancies and malignant solid tumors, while 46% had solely hematological malignancies. Despite the prevalence of the WHO scale, it lacks pediatric-specific criteria. Future OM research should incorporate validated tools like ChIMES for improved pediatric assessment., (© 2024 Wiley Periodicals LLC.)
Published: 2024
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37. Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.

Author: de Albuquerque ALA, Chadanowicz JK, Bevilacqua IP, Staub ALP, Winckler PB, da Silva PZ, Fagondes SC, Ferrari RS, Trojahn CDO, Sacharuk VZ, Kowalski TW, Donis KC, Becker MM, and Saute JAM
Abstract: Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil., Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases., Results: Eighty-one patients were included, of whom 7 died during follow-up. Of the remaining 74 patients, 5.4 % were classified as pre-symptomatic, 24.3 % with SMA type 1, 28.4 % with type 2, 36.5 % with type 3, and 5.4 % with type 4. The mean follow-up time ranged from 1.8 years for pre-symptomatic cases to 8.7 years for SMA types 2 and 3. Approximately 42 % of these patients received specific disease-modifying therapy, of these, 96.8 % received Nusinersen, with 19.4 % transitioning to gene therapy using Onasemnogene Abeparvovec, and 6.4 % starting Risdiplam. Most patients with SMA type 1 were on disease-modifying treatment, whereas only slightly over a third of patients with type 2 and about 10 % of type 3 were receiving such treatments. Among treated patients, 80 % demonstrated improvement in motor performance during the follow-up, with a lesser therapeutic response being associated with late initiation of treatment and low motor function scores at baseline., Conclusion: This real-world study reinforces the effectiveness of disease-modifying therapies for SMA in Brazil within the context of low- and middle-income countries, which is greater the earlier and the better the patient's functional status., Competing Interests: Conflicts of interest AMS is the principal investigator in clinical trials conducted by both Biogen and Novartis, companies that have commercial treatments for spinal muscular atrophy. The other authors declare no conflicts of interest to disclose., (Copyright © 2024 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)
Published: 2024
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38. Effects of sildenafil on gas exchange, ventilatory, and sensory responses to exercise in subjects with mild-to-moderate COPD: A randomized cross-over trial.

Author: Gass R, Plachi F, Silva FOB, Nolasco T, Tonetto MS, Goelzer LS, Muller PT, Knorst MM, Neder JA, and Berton DC
Abstract: Excess exercise ventilation (high ventilation (V̇ E )/carbon dioxide output (V̇CO 2 )) contributes significantly to dyspnea and exercise intolerance since the earlier stages of chronic obstructive pulmonary disease (COPD). A selective pulmonary vasodilator (inhaled nitric oxide) has shown to increase exercise tolerance secondary to lower V̇ E /V̇CO 2 and dyspnea in this patient population. We aimed to assess whether a clinically more practical option - oral sildenafil - would be associated with similar beneficial effects. In a randomized, placebo-controlled study, twenty-four patients with mild-to-moderate COPD completed, on different days, two incremental cardiopulmonary exercise tests (CPET) one hour after sildenafil or placebo. Eleven healthy participants performed a CPET in a non-interventional visit for comparative purposes with patients when receiving placebo. Patients (FEV 1 = 69.4 ± 13.5 % predicted) showed higher ventilatory demands (V̇ E /V̇CO 2 ), worse pulmonary gas exchange, and higher dyspnea during exercise compared to controls (FEV 1 = 98.3 ±11.6 % predicted). Contrary to our expectations, however, sildenafil (50 mg; N= 15) did not change exertional V̇ E /V̇CO 2 , dead space/tidal volume ratio, operating lung volumes, dyspnea, or exercise tolerance compared to placebo (P>0.05). Due to the lack of significant beneficial effects, nine additional patients were trialed with a higher dose (100 mg). Similarly, active intervention was not associated with positive physiological or sensory effects. In conclusion, acute oral sildenafil (50 or 100 mg) failed to improve gas exchange efficiency or excess exercise ventilation in patients with predominantly moderate COPD. The current study does not endorse a therapeutic role for sildenafil to mitigate exertional dyspnea in this specific patient subpopulation. Clinical trial registry: https://ensaiosclinicos.gov.br/rg/RBR-4qhkf4 Web of Science Researcher ID: O-7665-2019., Competing Interests: Declaration of Competing Interest No authors declare conflicts of interest related to this work., (Copyright © 2024 Elsevier B.V. All rights reserved.)
Published: 2024
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39. Implementation of bedside medication preparation in intensive care: post-improvement cycle.

Author: Barcellos RA, Silva CK, Wegner W, Azzolin KO, Santana LB, and Santos MZD
Subjects: Humans, Brazil, Drug Compounding standards, Medication Errors prevention & control, Drug Storage standards, Patient Safety, Guideline Adherence, Hospitals, Public standards, Critical Care standards, Quality Improvement, Intensive Care Units
Abstract: Objective: To assess the implementation of the bedside medication preparation process in an Intensive Care Unit, following a quality improvement cycle., Method: A quasi-experimental study with non-paired samples, pre- and post-implementation, conducted in an Intensive Care Unit of a public hospital in southern Brazil, from September 2022 to April 2023, following the guidelines of the Standards for Quality Improvement Reporting Excellence 2.0. Adherence to bedside medication preparation, interruptions during preparation, adequate storage, identification and validity of multidose medications, and recording of storage refrigerator temperature were evaluated. Shapiro-Wilk and Mann-Whitney U tests were used for data analysis, and Carter's Positivity Index was used to determine compliance with observed practices., Results: Forty-five audits were conducted pre-intervention and 122 audits three months after the implementation of the improvement cycle. All variables showed significant improvements. Overall compliance increased from 46% to 80% in the pre- and post-implementation periods, respectively, indicating a transition from "undesirable" to "safe" care stratum., Conclusion: The study revealed a positive relationship between the implementation of a quality improvement cycle focused on medication preparation and improvements in patient safety.
Published: 2024
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40. A multicentre study of amphotericin B treatment for histoplasmosis: assessing mortality rates and adverse events.

Author: Sekiguchi WK, de Oliveira VF, Cavassin FB, Taborda M, Gonçalves Kono Magri AS, da Cruz ICLV, Vidal JE, Falci DR, Silva de Miranda Godoy C, de Bastos Ascenço Soares R, de Oliveira CS, Mendes AVA, Breda GL, Rego CM, Félix MA, Katopodis PP, da Silva do Ó JR, Abrão MPL, Baú-Carneiro JL, Pereira TTT, Queiroz-Telles F, and Mihailenko Chaves Magri M
Subjects: Humans, Male, Female, Retrospective Studies, Adult, Middle Aged, Brazil epidemiology, Deoxycholic Acid therapeutic use, Deoxycholic Acid adverse effects, Risk Factors, Drug Combinations, Young Adult, Hospitalization statistics & numerical data, HIV Infections drug therapy, HIV Infections complications, HIV Infections mortality, Aged, Hypokalemia chemically induced, Hypokalemia mortality, Amphotericin B therapeutic use, Amphotericin B adverse effects, Histoplasmosis drug therapy, Histoplasmosis mortality, Antifungal Agents therapeutic use, Antifungal Agents adverse effects
Abstract: Background: Progressive disseminated histoplasmosis is a significant issue in Latin America, particularly in Brazil, contributing to high mortality rates., Objectives: Our objectives were to comprehensively describe histoplasmosis treatment with various amphotericin B (AmB) formulations, including mortality rates, adverse effects and risk factors for mortality., Methods: This multicentre retrospective cohort study (January 2014-December 2019) evaluated medical records of patients with proven or probable histoplasmosis treated with at least two doses of AmB in seven tertiary medical centres in Brazil. We assessed risk factors associated with death during hospitalization using univariate and multivariate analyses., Results: The study included 215 patients, mostly male (n = 158, 73%) with HIV infection (n = 187, 87%), and a median age of 40 years. Only 11 (5%) patients initiated treatment with liposomal amphotericin B (L-AmB). Amphotericin B deoxycholate (D-AmB) was administered to 159 (74%) patients without changes in the treatment. The overall mortality during hospitalization was 23% (50/215). Variables independently associated with mortality were use of D-AmB (OR 4.93) and hospitalization in ICU (OR 9.46). There was a high incidence of anaemia (n = 19, 90%), acute kidney injury (n = 96, 59%), hypokalaemia (n = 73, 55%) and infusion reactions (n = 44, 20%) during treatment., Conclusions: We found that D-AmB was the main formulation, which was also associated with a higher mortality rate. Lipid formulations of AmB have become more readily available in the public health system in Brazil. Further studies to evaluate the effectiveness of L-AmB will likely show improvements in the treatment outcomes for patients with disseminated histoplasmosis., (© The Author(s) 2024. Published by Oxford University Press on behalf of British Society for Antimicrobial Chemotherapy. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Published: 2024
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41. Systematic Review and Meta-Synthesis: How Is Depression Experienced by Adolescents? A Synthesis of the Qualitative Literature.

Author: Viduani A, Arenas DL, Benetti S, Wahid SS, Kohrt BA, and Kieling C
Subjects: Adolescent, Child, Female, Humans, Male, Young Adult, Loneliness psychology, Qualitative Research, Depression psychology
Abstract: Objective: To systematically investigate how youth with lived experience report their experience of depression in terms of features of depression and in relation to themselves and their environment., Method: We conducted a systematic review of qualitative research around the world that explored the subjective experience of depression among youth (age range, 10-24 years) who had self-reported, screened positive for, or received a formal diagnosis of the disorder. We used multiple databases to search for relevant studies published in any language up until March 2023. Studies were coded regarding features of depression reported by adolescents. We also used thematic synthesis to extract and synthesize descriptions of the lived experience of depression, and to develop analytic themes. The study was registered with PROSPERO, CRD42021218300., Results: We identified a total of 23,424 unique records, and included 39 studies in the final review, representing the views of 884 adolescents with lived experience of depression. Most of the studies were conducted in high-income countries (72.8%), and the majority of participants were female (65%). The most frequently reported features of depression were sadness (present in 92.3% of the studies), social withdrawal (76.9%), and loneliness (69.2%). In addition, we constructed 3 themes that aimed to synthesize youths' accounts of their perceptions and experiences of depression: (1) making sense; (2) factoring in culture and contextual influences; and (3) accessing support and care., Conclusion: Some of the more commonly reported features of depression among youth are not explicitly included in the DSM/ICD diagnostic criteria but are highly relevant and closely connected to the experiences of adolescents. Moreover, contextual interpretations of depression may be more sensitive to capture representations and narratives of depression among youth. Thus, incorporating features of depression reported by adolescents could potentially increase accuracy of detection, promote collaborative work, and enhance therapeutic and care outcomes., Plain Language Summary: In this systematic review, the authors investigated the experience of adolescent depression across the globe. Drawing from 39 qualitative studies representing the views of 884 adolescents from 16 different countries, the authors found that sadness, social withdrawal, and loneliness were the most frequently reported features of depression. The authors argue that contextual interpretations of depression may be more sensitive to capturing representations and narratives of depression than focusing solely on DSM/ICD criteria. The authors suggest that understanding personal narratives can create greater depth of understanding of youth experiences of depression., Study Preregistration Information: The lived experience of depression in adolescence: a systematic review of the qualitative literature; https://www.crd.york.ac.uk/prospero/; CRD42021218300., (Copyright © 2024 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.)
Published: 2024
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42. Subjective sleep parameters: A marker to PTSD symptoms evolution? A 4-year longitudinal study.

Author: Bertolazi AN, Bertolazi LN, Pillonetto J, Lidtke G, Mann KC, Crestani Calegaro V, Loayza Hidalgo MP, and John ÂB
Subjects: Humans, Male, Female, Adult, Longitudinal Studies, Middle Aged, Brazil epidemiology, Young Adult, Disease Progression, Follow-Up Studies, Stress Disorders, Post-Traumatic physiopathology, Stress Disorders, Post-Traumatic epidemiology, Sleep Wake Disorders epidemiology, Sleep Wake Disorders physiopathology, Sleep Wake Disorders etiology
Abstract: Disturbed sleep is a common feature after exposure to a traumatic event, especially when PTSD develops. However, although there is evidence suggesting a potential role of sleep disturbance in the progression of PTSD symptoms, the interrelationship between sleep and PTSD symptoms has yet to be determined. In order to address this knowledge gap, we have investigated the influence of initial sleep characteristics on the evolution of post-traumatic stress disorder (PTSD) symptoms over 4 years of follow-up among individuals exposed to the Brazilian Kiss nightclub fire. Participants were individuals exposed to the 2013 Kiss nightclub fire in Brazil. Sleep characteristics and PTSD symptoms were measured within the 4 years following the fire by self-report questionnaires, such as The Pittsburgh Sleep Quality Index (PSQI), and PTSD Checklist - Civilian version (PCL-C). Generalized estimating equations (GEE) models were used to examine the longitudinal associations (by estimating the relative effects of initial sleep problems on PTSD symptoms after adjusting for covariates). Comprehensive information concerning socio-demographic factors, health status, and sleep complaints were obtained. A total of 232 individuals were included. In GEE models, no significant interactions were observed between sociodemographic variables and PTSD symptoms in the follow-up period, however, associations were found between PTSD at baseline and the following factors: the female gender, the victim individuals and the existence of prior psychiatric disease. Initial subjective sleep parameters were strongly associated with PTSD symptoms over 4 years, mainly the presence of disturbed dreams (p = 0.012), increased sleep latency (p = 0.029), and reduced sleep duration (p = 0.012). Sleep complaints and PTSD symptoms were common among individuals after the disaster. The current study has found that the presence of sleep complaints, especially increased sleep latency, presence of disturbed dreams and short sleep duration, in the initial presentation after the fire was consistently associated with the perpetration of PTSD symptoms in the next 4 years of follow-up. These findings suggest that interventions addressing these sleep complaints have the potential to reduce the persistence and/or severity of PTSD symptoms., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Published by Elsevier Ltd.)
Published: 2024
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43. A systematic review and meta-analysis of the prevalence of Parkinson's disease in lower to upper-middle-income countries.

Author: Pereira GM, Teixeira-Dos-Santos D, Soares NM, Marconi GA, Friedrich DC, Saffie Awad P, Santos-Lobato BL, Brandão PRP, Noyce AJ, Marras C, Mata IF, Rieder CRM, and Schuh AFS
Abstract: Parkinson's disease (PD) is a common neurodegenerative disease that is a growing public health challenge. Estimates of the burden of PD have focused on data from high-income countries, with lower-income countries poorly described. We reviewed and examined the prevalence of PD reported by studies in low- to upper-middle-income countries. A systematic literature search was performed in the Medline/PubMed, Embase, LILACS, and Web of Science databases. Age group, sex, and geographic region were considered when analyzing the data. Of the 4327 assessed articles, 57 met the inclusion criteria for qualitative review, and 36 were included in the meta-analysis. Heterogeneity measures were high both as a whole and in each geographic region. Data analysis by geographic region showed that reported prevalence differed across regions, ranging from 49 per 100,000 (Sub-Saharan Africa) to 1081 per 100,000 (Latin America and the Caribbean). There was an increasing prevalence of PD with advancing age (per 100,000): 7 in 40-49 years, 158 in 50-59 years, 603 in 60-69 years, 1251 in 70-79 years, and 2181 in over the age of 80. The prevalence of PD in men and women was similar. There was a greater PD prevalence in populations with a higher 5-year GDP per capita and a higher life expectancy. Our findings suggest a higher prevalence of PD in lower and upper-middle-income countries than previously reported. Comparisons between regions are difficult, as the sociocultural differences and lack of methodological standardization hinder understanding key epidemiological data in varied populations., (© 2024. The Author(s).)
Published: 2024
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44. Emotion Comprehension and Socio-cognitive Skills in Children with High Functioning Autism Spectrum Disorders.

Author: Santana VS, Marchezan J, Scheibe DB, and Bücker J
Abstract: Background and Objectives: This study aimed to compare socio-cognitive skills and emotion comprehension between children with Autism Spectrum Disorder (ASD) and children with neurotypical development., Methods: This quantitative, cross-sectional, controlled study involved 19 children in each group, matched by age (6-12 years) and sex. The assessments examined cognitive aspects (Intelligence Quotient was assessed using the Vocabulary and Matrix Reasoning subtests; working memory using the digit span and letter-number sequencing subtests; attention using the Continuous Performance Test - Identical Pairs; and executive functions using the Trail Making Test), social functions (Children's Social Skills, Behavior Problems, and Academic Competence Inventory), and emotion comprehension (language was assessed using the Strange Stories Test; emotional facial expressions using the digital emotion comprehension test; emotional/affective prosody using the Profiling Elements of Prosody in Speech-Communication - Brazilian Portuguese adapted version)., Results: The group with ASD exhibited better performance in executive functions (p=0.02). However, they lagged the control group in social skills (p=0.04), behavior problems (p=0.03), and emotion comprehension (language, facial expressions, and prosody) (all p<0.05)., Conclusion: The findings indicate that children with ASD have diminished performance in social skills and emotion comprehension compared to children with neurotypical development. Therefore, the development of technologies and/or therapeutic interventions that address these deficits among children with ASD is recommended., Competing Interests: No conflicts of interest declared concerning the publication of this article.
Published: 2024
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45. The burden of pre-operative anaemia and postoperative outcomes in 15 166 surgical patients from a public hospital in Brazil: A retrospective cohort study.

Author: Mendanha C, Neto PCS, Borges RB, Sirtoli I, Pando CS, Brandão M, Weber A, Sekini L, and Stefani LC
Abstract: Background: Preoperative anaemia is associated with poor postoperative outcomes; however, few studies have reported its prevalence in developing countries and its association with significant postoperative outcomes., Objective: We aimed to identify the prevalence of anaemia and its association with postoperative outcomes in a major public hospital in Brazil., Design: Retrospective cohort study., Setting: Single-centre, 860-bed, quaternary university-affiliated teaching hospital in Southern Brazil., Patients: We included adult patients who had undergone surgery between 2015 and 2019. Main outcome measures: The main outcome was the in-hospital 30-day postoperative mortality. According to the World Health Organisation, we defined anaemia and its sub-classification (mild, moderate, and severe). We developed Poisson regression models to examine the association between preoperative anaemia and outcomes., Results: We included 15 166 patients, of whom 6387 (42.1%) were anaemic. After adjustment for confounding factors, patients with anaemia had an increased risk of in-hospital 30-day postoperative mortality (relative risk (RR) 1.69, 95% confidence interval (CI) 1.44 to 1.99, P < 0.001). Mild [relative risk (RR) 1.38, 95% CI 1.12 to 1.71, P = 0.003], moderate (RR 1.73, 95% CI 1.43 to 2.10, P < 0.001), and severe anaemia (RR 2.43, 95% CI 1.92 to 3.07, P < 0.001) were associated with the primary outcome. Anaemia increased the transfusion risk (RR 4.44, 95% CI 3.90 to 5.06, P < 0.001) and postoperative intensive care unit (ICU) admission (RR 1.09, 95% CI 1.04 to 1.16, P = 0.001)., Conclusions: Four out of 10 patients had anaemia. These patients had an increased risk of adverse postoperative outcomes. Comprehension of the magnitude and impact of anaemia is essential to establish interventions in low-resource scenarios to optimise the patient's journey., Study Registration: Institutional Review Board Registration number 40522820000005327 (Brazilian CEP/CONEP System, available in https://plataformabrasil.saude.gov.br/)., (Copyright © 2024 European Society of Anaesthesiology and Intensive Care. Unauthorized reproduction of this article is prohibited.)
Published: 2024
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46. Long-lasting behavioral and neurochemical effects of early-life environmental enrichment in rats submitted to neonatal morphine administration.

Author: de Freitas Nascimento MG, de Castro JM, Medeiros LF, Fiuza KJ, de Oliveira TC, de Sousa Morais IT, Bosco TD, Caumo W, Stein DJ, and Torres ILS
Abstract: The present study examined the medium- and long-term effects of early environmental enrichment (EE) on neuromotor, nociceptive, cognitive, behavioral, and neurochemical parameters in newborn rats repeatedly exposed to morphine. The study employed 90 Wistar rats: 10 adult nulliparous females and 80 male pups. Litter was split into standard and EE housing. Following, half of each litter received saline (S) or morphine (M) injections, resulting in four groups: SC + S, EE + S, SC + M, and EE + M. EE was applied from PND1 to PND21, while morphine or saline was given daily (5 μg/s.c.) from PND8 to PND14. Neuromotor development was similar between groups. In the OF test, morphine reduced outer and total crossings, whereas EE increased inner crossings and rearings. Adult rats showed a decrease in outer and total crossings and grooming and an increase in rearing. EE increased the number of protected and unprotected head dipping. Adult rats showed an increase in protected head dipping. Adult rats showed a lower recognition index, and, when exposed to EE, a lower anxiety index and analgesia. EE increased brainstem and hippocampal BDNF levels. Adult rats had increased hypothalamus, spinal cord, and brainstem BDNF levels, an increase in the spinal cord, and decreased hypothalamus TNF-α levels. This study demonstrated that early-life EE raises BDNF levels in the brainstem and hippocampus of rats and modifies their behaviors (such as nociception, exploration, and anxiety) in a state-dependent manner (morphine and age)., (© 2024 International Society for Developmental Neuroscience.)
Published: 2024
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47. Evaluation of glial tumors: correlation between magnetic resonance imaging and histopathological analysis.

Author: Campos LG, de Oliveira FH, Antunes ÁCM, and Duarte JÁ
Abstract: Objective: To determine the correlation of conventional and diffusion-weighted imaging findings on magnetic resonance imaging (MRI) of the brain, based on Visually AcceSAble Rembrandt Images (VASARI) criteria, with the histopathological grading of gliomas: low-grade or high-grade., Materials and Methods: Preoperative MRI scans of 178 patients with brain gliomas and pathological confirmation were rated by two neuroradiologists for tumor size, location, and tumor morphology, using a standardized imaging feature set based on the VASARI criteria., Results: In the univariate analysis, more than half of the MRI characteristics evaluated showed a significant association with the tumor grade. The characteristics most significantly associated with the tumor grade were hemorrhage; restricted diffusion; pial invasion; enhancement; and a non-contrast-enhancing tumor crossing the midline. In a multivariable regression model, the presence of enhancement and hemorrhage maintained a significant association with high tumor grade. The absence of contrast enhancement and restricted diffusion were associated with the presence of an isocitrate dehydrogenase gene mutation., Conclusion: Our data illustrate that VASARI MRI features, especially intratumoral hemorrhage, contrast enhancement, and multicentricity, correlate strongly with glial tumor grade.
Published: 2024
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48. Knowledge, Attitudes, Practices, and Perceptions of Brazilian Dentists About Oral Cancer.

Author: Sangoi MGR, Dias YM, Katz N, Visioli F, Rados PV, Martins MD, de Campos Hildebrand L, and Carrard VC
Abstract: Dentists play a pivotal role in the early detection of oral cancer. Consequently, they are expected to possess the knowledge and the capability to recognize the features of this disease. The objective of the study is to evaluate dentists from different regions of Brazil regarding their level of knowledge and self-confidence regarding oral cancer. An online self-administered questionnaire was completed by dentists across Brazil registered on the TelessaúdeRS-UFRGS platform. This questionnaire encompassed inquiries related to knowledge, attitudes, and practices regarding oral cancer. A total of 1291 dentists from all regions of the country responded to the questionnaire. The majority of participants were females (75.5%), with an average age of 36.3 years, predominantly from the public sector (46.8%). A reasonable level of knowledge regarding oral cancer was observed among dentists, although 48.6% of these professionals felt uncertain about diagnosis procedures. Dentists less than 8 years since graduation perceived themselves as more prepared to perform oral cancer diagnoses than those with more experience. Around 55% of participants had never performed a biopsy. Based on the obtained results, it is concluded that continuous education activities focused on oral cancer and implementing practical training during undergraduate studies are imperative. These strategies can improve professionals' self-confidence and diagnostic accuracy, thereby facilitating early disease diagnosis and, consequently, a more favorable prognosis., (© 2024. The Author(s) under exclusive licence to American Association for Cancer Education.)
Published: 2024
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49. Breast Adiposity: Menopausal Status Impact and its Influence on Glycemic and Anthropometric Metabolic Parameters.

Author: Limberger Nedel B, Garcia Madure M, Guaresi S, Soares Machado ME, Madrid de Bittencourt M, Nobrega Chagas N, and Gerchman F
Subjects: Humans, Female, Middle Aged, Cross-Sectional Studies, Adult, Body Composition physiology, Body Mass Index, Insulin Resistance physiology, Anthropometry, Adipose Tissue metabolism, Adiposity physiology, Menopause physiology, Menopause blood, Menopause metabolism, Blood Glucose metabolism, Blood Glucose analysis, Breast diagnostic imaging, Breast metabolism, Metabolic Syndrome metabolism, Metabolic Syndrome blood
Abstract: Context: Ectopic fat depots are related to the deregulation of energy homeostasis, leading to diseases related to obesity and metabolic syndrome (MetS). Despite significant changes in body composition over women's lifespans, little is known about the role of breast adipose tissue (BrAT) and its possible utilization as an ectopic fat depot in women of different menopausal statuses., Objective: We aimed to assess the relationship between BrAT and metabolic glycemic and lipid profiles and body composition parameters in adult women., Methods: In this cross-sectional study, we enrolled adult women undergoing routine mammograms and performed history and physical examination, body composition assessment, semi-automated assessment of breast adiposity (BA) from mammograms, and fasting blood collection for biochemical analysis. Correlations and multivariate regression analysis were used to examine associations of BA with metabolic and body composition parameters., Results: Of the 101 participants included in the final analysis, 76.2% were in menopause, and 23.8% were in premenopause. The BA was positively related with fasting plasma glucose, glycated hemoglobin, homeostasis model assessment of insulin resistance, body mass index, waist circumference, body fat percentage, and abdominal visceral and subcutaneous fat when adjusted for age among women in postmenopause. Also, the BA was an independent predictor of hyperglycemia and MetS. These associations were not present among women in premenopause., Conclusion: The BA was related to different adverse body composition and metabolic factors in women in postmenopause. The results suggest that there might be a relevant BrAT endocrine role during menopause, with mechanisms yet to be clarified, thus opening up research perspectives on the subject and potential clinical implications., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Published: 2024
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50. Topiramate added to metformin for obesity control in women with polycystic ovary syndrome: a randomized clinical trial.

Author: Marchesan LB, da Silva TR, and Spritzer PM
Abstract: Context: Polycystic ovary syndrome (PCOS) is often linked with obesity, and weight management can improve endocrine and cardiometabolic features., Objective: To evaluate the effects of adding topiramate (TPM) to metformin (MTF) on weight control, hormonal and metabolic outcomes in women with PCOS., Methods: In a randomized, double-blind, placebo-controlled trial, participants with PCOS and body mass index ≥30 kg/m² or ≥27 kg/m² associated with hypertension, type 2 diabetes, or dyslipidemia followed a 20 kcal/kg diet in addition to 850 mg of MTF or a previous MTF regimen. They were randomized to receive either TPM or placebo (P) alongside MTF. Anthropometric measurements, blood pressure, modified Ferriman-Gallwey score (mFGS), and adverse events were assessed every 4 weeks for 6 months., Main Outcome Measures: The primary endpoint was the percent change in body weight from baseline in both groups. Secondary endpoints included changes in clinical, cardiometabolic, and hormonal parameters and psychosocial features., Results: Thirty-one participants were in the MTF+P group and 30 in the MTF+TPM group. The MTF+TPM group showed greater mean weight loss at 3 months (-3.4% vs. -1.6%, p=0.03) and 6 months (-4.5% vs. -1.4%, p=0.03). Both groups improved androgens, lipids, and psychosocial scores. Participants with ≥3% weight loss at 6 months improved mFGS (8.4 to 6.5, p=0.026). Paresthesia was more common in the MTF+TPM group (23.3% vs. 3.2%, p=0.026)., Conclusions: Combining TPM with MTF and a low-calorie diet may be an effective, low-cost, easy-to-use, and safe strategy for weight management in women with PCOS, with mild adverse effects., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. See the journal About page for additional terms.)
Published: 2024
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