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1.
Int J Neurosci ; : 1-8, 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38441501

RESUMO

PURPOSE: This study examines the independent and interactive effects of age and multiple sclerosis (MS) on health-related quality of life (HRQOL). MATERIALS AND METHODS: The sample included persons with MS (n = 207) and healthy controls (HCs; n = 99) divided into three age groups (young, middle-aged, and older adults) who completed a battery of questionnaires, including the 36-item Short-Form Health Survey (SF-36) as a measure of HRQOL. The SF-36 yielded scores for the Physical Component Summary (PCS) (i.e. physical HRQOL) and Mental Component Summary (MCS) (i.e. mental HRQOL). The data were analyzed using two-way MANOVA. RESULTS: There was no interaction between age and disease status on HRQOL, but there were significant main effects of age and disease status on HRQOL. HRQOL was significantly lower in participants with MS than HCs, regardless of age. Physical HRQOL was lower, whereas mental HRQOL was higher across age groups. CONCLUSION: The findings suggest that future research should develop behavioral and rehabilitation approaches that are applicable for improving HRQOL across the lifespan in persons with MS, particularly for physical HRQOL in older adults with MS.

2.
Community Ment Health J ; 60(4): 813-825, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38319528

RESUMO

The conceptualization of mental disorders varies among professionals, impacting diagnosis, treatment, and research. This cross-disciplinary study aimed to understand how various professionals, including psychiatrists, psychologists, medical students, philosophers, and social sciences experts, perceive mental disorders, their attitudes towards the disease status of certain mental states, and their emphasis on biological versus social explanatory attributions. A survey of 371 participants assessed their agreement on a variety of conceptual statements and the relative influence of biological or social explanatory attribution for different mental states. Our findings revealed a consensus on the need for multiple explanatory perspectives in understanding psychiatric conditions and the influence of social, cultural, moral, and political values on diagnosis and classification. Psychiatrists demonstrated balanced bio-social explanatory attributions for various mental conditions, indicating a potential shift from the biological attribution predominantly observed among medical students and residents in psychiatry. Further research into factors influencing these differing perspectives is necessary.


Assuntos
Transtornos Mentais , Psiquiatria , Transtornos Psicóticos , Estudantes de Medicina , Humanos , Formação de Conceito , Transtornos Mentais/diagnóstico , Transtornos Mentais/terapia , Transtornos Mentais/psicologia , Psiquiatria/educação
3.
Br J Haematol ; 201(4): 747-756, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36786154

RESUMO

Patients with acute megakaryoblastic leukaemia of Down syndrome (DS-AMKL) have an excellent survival rate; however, patients with non-DS-AMKL experience poor outcomes. Therefore, this study retrospectively analysed 203 children with non-DS-AMKL who underwent their first haematopoietic cell transplantation (HCT) from 1986 to 2015 using a nationwide Japanese HCT registry data to assess HCT outcomes for non-DS-AMKL. The 5-year overall survival (OS) and event-free survival (EFS) rates were 43% and 38% respectively. The 5-year OS rate was significantly higher for patients who underwent HCT in the first complete remission (CR1, 72%) than for those in the second CR (CR2, 23%) and non-CR (16%) (p < 0.001), and for those from a human leukocyte antigen (HLA)-matched (52%) than for those from an HLA-mismatched donor (27%) (p < 0.001). Multivariate analysis for OS revealed that HCT in CR2 and non-CR was a significant risk factor (hazard ratio, 5.86; 95% confidence interval, 3.56-9.53; p < 0.001). The 3-year EFS in patients who received HCT in CR1 using reduced-intensity conditioning (RIC, 35%) was significantly lower than in those using myeloablative conditioning (busulfan-based, 71%; total body irradiation-based, 58%) (p < 0.001). Risk stratification in patients with non-DS-AMKL should be established to determine HCT indication in CR1.


Assuntos
Síndrome de Down , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Leucemia Megacarioblástica Aguda , Leucemia Mieloide Aguda , Humanos , Criança , Leucemia Megacarioblástica Aguda/terapia , Síndrome de Down/complicações , Estudos Retrospectivos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Bussulfano , Condicionamento Pré-Transplante/efeitos adversos , Doença Enxerto-Hospedeiro/etiologia
4.
Respir Res ; 24(1): 63, 2023 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-36842969

RESUMO

BACKGROUND: Asthma is a heterogeneous disease with high morbidity. Advancement in high-throughput multi-omics approaches has enabled the collection of molecular assessments at different layers, providing a complementary perspective of complex diseases. Numerous computational methods have been developed for the omics-based patient classification or disease outcome prediction. Yet, a systematic benchmarking of those methods using various combinations of omics data for the prediction of asthma development is still lacking. OBJECTIVE: We aimed to investigate the computational methods in disease status prediction using multi-omics data. METHOD: We systematically benchmarked 18 computational methods using all the 63 combinations of six omics data (GWAS, miRNA, mRNA, microbiome, metabolome, DNA methylation) collected in The Vitamin D Antenatal Asthma Reduction Trial (VDAART) cohort. We evaluated each method using standard performance metrics for each of the 63 omics combinations. RESULTS: Our results indicate that overall Logistic Regression, Multi-Layer Perceptron, and MOGONET display superior performance, and the combination of transcriptional, genomic and microbiome data achieves the best prediction. Moreover, we find that including the clinical data can further improve the prediction performance for some but not all the omics combinations. CONCLUSIONS: Specific omics combinations can reach the optimal prediction of asthma development in children. And certain computational methods showed superior performance than other methods.


Assuntos
Asma , MicroRNAs , Gravidez , Humanos , Feminino , Criança , Benchmarking , Genômica/métodos , Asma/diagnóstico , Asma/epidemiologia , Asma/genética , Prognóstico
5.
Exp Dermatol ; 32(12): 2149-2159, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37909736

RESUMO

Bullous pemphigoid (BP) is a severe autoimmune blistering disease affecting patients' quality of life. Gut microbiota (GM) dysbiosis have been investigated to be associated with multiple autoimmune diseases. However, the relationship between GM and BP onset and remission remains to be established by a systematic study. We conducted a study that enrolled 24 patients with BP onset (BP group), 24 patients under remission stage (BP-R group) and 24 healthy controls (HC group). We applied 16S rRNA sequencing on faecal samples and revealed a separation of the microbiota structure. At the family level, Lachnospiraceae, Prevotellaceae and Veillonellaceae were more abundant in the HC and BP-R groups, while Bacteroidaceae, Ruminococcaceae and Enterobacteriaceae were more abundant in the BP group. Bugbase analysis revealed the potentially pathogenic bacteria had an increasing trend in the BP group compared with the HC group and this variation vanished in the BP-R group. At the amplicon sequence variants (ASV) level, Bacteroides ovatus (ASV40) and Veillonella dispar (ASV140) significantly decreased, while Prevotella copri (ASV54) increased in the BP group compared to the HC and BP-R groups. The HC group and BP-R group shared similar abundance. Furthermore, by correlation analysis, we investigated key ASVs correlated with clinical parameters and found some discriminate biomarkers between the BP and BP-R groups. Our study established a dynamic GM profile in BP patients under different disease activity, providing a new direction to understand the role of GM in BP pathogenesis and therapeutic effects.


Assuntos
Doenças Autoimunes , Microbioma Gastrointestinal , Penfigoide Bolhoso , Humanos , Penfigoide Bolhoso/patologia , Microbioma Gastrointestinal/genética , Disbiose/microbiologia , RNA Ribossômico 16S/genética , Qualidade de Vida
6.
Value Health ; 26(6): 909-917, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36738785

RESUMO

OBJECTIVES: To examine how disease status and current health state influence treatment preferences of patients with multiple myeloma (MM). METHODS: Participants with MM from France, Germany, and the United Kingdom completed a web-based survey that included a discrete choice experiment (DCE) and EQ-5D assessment. The DCE elicited preferences for 8 attributes: increased life expectancy, increased time to relapse, pain, fatigue, risk of infection, administration (route and duration), frequency of administration, and monitoring. Multinomial logit models were used to analyze DCE preference data and to calculate life expectancy trade-offs. RESULTS: Three hundred participants with MM (newly diagnosed, transplant eligible, n = 108; newly diagnosed, transplant ineligible, n = 105; relapsed-refractory, n = 87) completed the survey. The most valued attributes were pain, fatigue, and increased life expectancy. Participants would want an additional 2.7 years of life expectancy (95% confidence interval [CI] 2.4-3.1 years) to tolerate extreme pain and an additional 2.0 years of life expectancy (95% CI 1.6-2.3 years) to tolerate constant fatigue. Participants in a better health state (third EQ-5D score quartile [0.897]) required less additional life expectancy than participants with a worse health state (first EQ-5D score quartile [0.662]) to tolerate extreme pain (2.3 years [95% CI 1.9-2.6 years] vs 3.0 years [95% CI 2.6-3.4 years]; P = .007). There was little difference in treatment preferences between newly diagnosed and relapsed-refractory patients for pain, fatigue, and increased life expectancy. CONCLUSIONS: Current health state influenced treatment preferences of patients with MM more than disease status and should be considered when making treatment decisions.


Assuntos
Mieloma Múltiplo , Preferência do Paciente , Humanos , Mieloma Múltiplo/terapia , Recidiva Local de Neoplasia , Tomada de Decisões , Expectativa de Vida , Inquéritos e Questionários , Comportamento de Escolha , Qualidade de Vida
7.
BMC Public Health ; 23(1): 2083, 2023 10 24.
Artigo em Inglês | MEDLINE | ID: mdl-37875861

RESUMO

BACKGROUND: Living in hilly neighbourhoods can be associated with sedentary behaviour, but no study has compared sedentary behaviour and its associations with frailty, chronic diseases, and poor health between flat and hilly neighbourhoods among older adults. This study, therefore, compared older adults' sedentary behaviour and its association with frailty, poor health, and chronic disease status between low and hilly neighbourhoods. METHODS: This study utilised a STROBE-compliant cross-sectional design with sensitivity analyses and a common methods bias assessment. The participants were 1,209 people aged 50+ years who resided in flat (Ablekuma North, n = 704) and hilly (Kwahu East, n = 505) neighbourhoods in Ghana. The data were analysed with the independent samples t-test and hierarchical linear regression. RESULTS: Older adults in the hilly neighbourhood were more sedentary than those in the flat neighbourhood. The association between sedentary behaviour and chronic disease status was significant in both neighbourhoods, but this relationship was stronger in the hilly neighbourhood. Older adults in the flat neighbourhood reported lower sedentary behaviour at higher frailty (ß = -0.18; t = -3.2, p < 0.001), but those in the hilly neighbourhood reported higher sedentary behaviour at higher frailty (ß = 0.16; t = 3.54, p < 0.001). CONCLUSIONS: Older adults living in the hilly neighbourhood reported higher sedentary behaviour. In the hilly neighbourhood, sedentary behaviour was more strongly associated with frailty and chronic disease status. Older adults in hilly neighbourhoods may need extra support to avoid sedentary behaviour.


Assuntos
Fragilidade , Humanos , Idoso , Fragilidade/epidemiologia , Comportamento Sedentário , Estudos Transversais , Características de Residência , Doença Crônica
8.
Rev Sci Tech ; 42: 242-251, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37232300

RESUMO

The World Animal Health Information System (WAHIS) collects and publishes a wealth of information gathered by individual countries' Veterinary Services, including detailed country-specific information on outbreaks of diseases listed by the World Organisation for Animal Health (WOAH, founded as OIE), including emerging diseases, in domestic animals and wildlife, and non-listed diseases in wildlife. The data set is one of the most comprehensive in the world, with 182 Members obliged to report this information to WOAH in a timely manner. As such, the data provide invaluable input for Veterinary Services, animal health researchers and stakeholders to gain insight into risk from infectious diseases, for example through the development of predictive models and risk assessments to address the risk from trade of animal products, globalisation, or movement of wildlife or vectors across country borders. This paper reviews previous analyses that have been conducted using WAHIS data and outlines ways in which these data can be used for preparedness and risk assessment.


Le Système mondial d'information zoosanitaire (WAHIS) collecte et publie une grande quantité d'informations recueillies auprès des Services vétérinaires nationaux, parmi lesquelles des données détaillées spécifiques aux pays sur les foyers de maladies listées par l'Organisation mondiale de la santé animale (OMSA, fondée en tant qu'OIE), dont les maladies émergentes, chez les animaux domestiques et dans la faune sauvage, ainsi que de maladies non listées affectant la faune sauvage. Cet ensemble de données est l'un des plus exhaustifs du monde puisque les 182 Membres de l'OMSA ont l'obligation de lui faire remonter ces informations dans WAHIS dans des délais spécifiés. Ces données sont précieuses pour les Services vétérinaires, les chercheurs travaillant dans le domaine de la santé animale et les parties prenantes car elles permettent de mieux comprendre les risques relatifs aux maladies infectieuses, notamment grâce aux modèles prédictifs et aux évaluations de risques pour traiter le risque lié au commerce de produits d'origine animale, à la mondialisation, aux mouvements de la faune sauvage ou aux vecteurs entre les pays. Les auteurs font le point sur des analyses antérieures qui ont été menées en utilisant les données de WAHIS et soulignent comment ces données peuvent être utilisées dans le cadre d'un travail de préparation et d'évaluation des risques.


El Sistema Mundial de Información Zoosanitaria (WAHIS) colecta y publica una gran cantidad de datos recogidos por los Servicios Veterinarios de cada país, en particular detallada información sobre brotes de enfermedades listadas por la Organización Mundial de Sanidad Animal (OMSA, fundada como OIE), incluidas las enfermedades emergentes, que hayan afectado a los animales domésticos o la fauna silvestre, así como enfermedades no listadas que afectan a la fauna silvestre. Se trata de uno de los conjuntos de datos más completos del mundo, ya que los 182 Miembros tienen la obligación de comunicar esta información a la OMSA dentro de plazos determinados. Estos datos son una fuente de información de gran utilidad para los Servicios Veterinarios, los investigadores que trabajan en sanidad animal y demás partes interesadas porque permiten mejorar la comprensión de los riesgos derivados de las enfermedades infecciosas, por ejemplo elaborando modelos predictivos y evaluaciones de riesgo que ayuden a manejar los riesgos ligados al comercio de productos de origen animal, la globalización o al movimiento transfronterizo de animales salvajes o vectores de enfermedad. Los autores repasan una serie de análisis previamente realizados con datos de WAHIS y explican en síntesis cómo pueden utilizarse estos datos con fines de preparación y evaluación de riesgos.


Assuntos
Doenças dos Animais , Sistemas de Informação em Saúde , Medicina Veterinária , Animais , Doenças dos Animais/epidemiologia , Doenças dos Animais/prevenção & controle , Cooperação Internacional , Internacionalidade , Animais Selvagens , Saúde Global
9.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 45(4): 556-562, 2023 Aug.
Artigo em Zh | MEDLINE | ID: mdl-37533316

RESUMO

Objective To analyze the prevalence of coronary heart disease among community residents over 18 years old in Jinjiang district of Chengdu city,Sichuan province,and explore its associated factors,so as to provide a reference for the prevention and control of coronary heart disease in communities.Methods From October 15 to November 10 in 2021,a total of 5220 adult residents from 33 communities in Jinjiang were selected by multi-stage stratified random sampling for face-to-face questionnaire survey,physical examination,and laboratory blood test.Binary Logistic regression was employed to predict the factors associated with coronary heart disease among adult residents in Jinjiang.Results The crude and standard prevalence rates of coronary heart disease among 5220 adult residents were 3.39% and 2.11%,respectively.Logistic regression analysis showed that age (OR=1.068,95%CI=1.051-1.086,P<0.001),depressive symptoms (OR=1.639,95%CI=1.037-2.591,P=0.034),regular exercise (OR=0.584,95%CI=0.378-0.902,P=0.015),elevated blood pressure (OR=3.529,95%CI=2.344-5.312,P<0.001),dyslipidemia (OR=2.152,95%CI=1.291-3.587,P=0.003),and core knowledge score of chronic diseases (OR=1.144,95%CI=1.066-1.228,P<0.001) were associated with coronary heart disease among adult residents in Jinjiang.Conclusions The prevalence of coronary heart disease is high among adult residents in Jinjiang district of Chengdu.The urban residents who are older,have depressive symptoms,lack of exercise,elevated blood pressure,dyslipidemia,and score higher on core knowledge of chronic diseases are prone to coronary heart disease.


Assuntos
Doença das Coronárias , Dislipidemias , Hipertensão , Adulto , Humanos , Adolescente , Fatores de Risco , Doença das Coronárias/epidemiologia , Inquéritos e Questionários , China/epidemiologia , Prevalência
10.
Cell Immunol ; 378: 104572, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35772315

RESUMO

We have previously demonstrated that Mucosal-Associated Invariant T (MAIT) cells secrete multiple cytokines after exposure to Salmonella enterica serovar Typhi (S. Typhi), the causative agent of typhoid fever in humans. However, whether cytokine secreting MAIT cells can enhance or attenuate the clinical severity of bacterial infections remain debatable. This study characterizes human MAIT cell functions in subjects participating in a wild-type S. Typhi human challenge model. Here, we found that MAIT cells exhibit distinct functional signatures associated with protection against typhoid fever. We also observed that the cytokine patterns of MAIT cell responses, rather than the average number of cytokines expressed, are more predictive of typhoid fever outcomes. These results might enable us to objectively, based on functional parameters, identify cytokine patterns that may serve as predictive biomarkers during natural infection and vaccination.


Assuntos
Células T Invariantes Associadas à Mucosa , Febre Tifoide , Citocinas , Humanos , Salmonella typhi/fisiologia , Febre Tifoide/microbiologia , Febre Tifoide/prevenção & controle , Vacinação
11.
Neuroimmunomodulation ; 29(4): 296-305, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34903694

RESUMO

OBJECTIVE: At present, studies on lymphocytes are mostly conducted on CD19+ B cells and CD27+ B cells in neuromyelitis optica spectrum disorders (NMOSDs), but the exact changes in lymphocyte subsets (CD19+ B cells, CD3+ T cells, CD4+ Th cells, CD8+ Ts cells, the CD4+/CD8+ ratio, and NK [CD56+ CD16] cells) have rarely been studied. This study aimed to assess lymphocyte subset changes in patients with NMOSD. METHODS: We performed a cross-sectional study of consecutive patients with acute NMOSD (n = 41), chronic NMOSD (n = 21), and healthy individuals (n = 44). Peripheral blood samples were obtained upon admission, and lymphocyte subsets were analyzed by flow cytometry. Levels of lymphocyte subsets among 3 groups were compared and its correlation with the length of spinal cord lesions was analyzed. RESULTS: The levels of peripheral blood CD19+ B cells were significantly higher in patients with acute and chronic NMOSD than in healthy controls (HCs) (17.91 ± 8.7%, 13.08 ± 7.562%, and 12.48 ± 3.575%, respectively; p < 0.001) and were positively correlated with the length of spinal cord lesions in acute NMOSD (r = 0.433, p < 0.05). The peripheral blood CD4+/CD8+ ratio was significantly lower in patients with acute NMOSD and chronic NMOSD than in HCs (1.497 ± 0.6387, 1.33 ± 0.5574, and 1.753 ± 0.659, respectively; p < 0.05), and the levels of peripheral blood NK (CD56+ CD16) cells were significantly lower in patients with acute and chronic NMOSD than in HCs (13.6 ± 10.13, 11.11 ± 7.057, and 14.7 [interquartile range = 9.28], respectively; p < 0.01). CONCLUSIONS: The levels of certain subsets of peripheral blood lymphocytes are associated with disease status in NMOSD.


Assuntos
Neuromielite Óptica , Humanos , Estudos Transversais , Subpopulações de Linfócitos/patologia , Contagem de Linfócitos , Antígenos CD19
12.
Endocr Pract ; 28(7): 678-683, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35421593

RESUMO

OBJECTIVE: We aimed to assess treatment outcomes and disease control status in patients with acromegaly using patient- and clinician-reported outcome tools and to analyze correlations among different components of both tools. METHODS: This cross-sectional study included 72 patients from a national referral center with a median follow-up of 8 (5-12) years. The baseline SAGIT score at diagnosis was determined retrospectively, whereas the follow-up SAGIT and acromegaly quality of life questionnaire (AcroQoL) results were assessed at the most recent visit and by additional telephone interviews. RESULTS: All SAGIT subscores decreased significantly from baseline to follow-up (global score from 14 to 4 [P < .001]). The SAGIT scores at baseline did not discriminate the current disease control status. However, a higher baseline SAGIT score and subscore T were associated with uncontrolled disease after the first-line treatment. Diagnostic delay was correlated with baseline S, A, G, and global SAGIT scores. At the follow-up, the global SAGIT score discriminated between cured/controlled and uncontrolled groups (4 vs 6 [P = .007]). The AcroQoL score was 69.3, with the personal relations subscale being the least affected and the physical scale being the most affected. There was no difference in the AcroQoL score between patients classified as uncontrolled or cured/controlled. At baseline and follow-up, there were significant negative correlations between S and A subscores and AcroQoL score. A higher body mass index, the presence of swelling, joint symptoms, headaches, sleep apnea, and hypertension significantly impaired quality of life. CONCLUSION: Our results emphasize the complementary nature of the patient- and clinician-reported outcome tools in acromegaly management. We identified modifiable signs, symptoms, and comorbidities as treatment targets that might help clinicians improve quality of life in this population.


Assuntos
Acromegalia , Acromegalia/tratamento farmacológico , Acromegalia/terapia , Estudos Transversais , Diagnóstico Tardio , Humanos , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Estudos Retrospectivos , Inquéritos e Questionários
13.
Ann Hematol ; 100(12): 3017-3027, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34477952

RESUMO

This study aimed to compare the effect of disease status at the time of allogeneic hematopoietic cell transplantation (HCT) on post-transplant outcomes between acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). Japanese nationwide registry data for 6901 patients with AML and 2469 patients with ALL were analyzed. In this study, 2850 (41%), 937 (14%), 62 (1%), and 3052 (44%) AML patients and 1751 (71%), 265 (11%), 23 (1%), and 430 (17%) ALL patients underwent transplantation in first complete remission (CR1), second CR (CR2), third or subsequent CR (CR3 +), and non-CR, respectively. The probabilities of overall survival at 5 years for patients transplanted in CR1, CR2, CR3 + , and non-CR were 58%, 61%, 41%, and 26% for AML patients and 67%, 45%, 20%, and 21% for ALL patients, respectively. Multivariate analyses revealed that the risks of relapse and overall mortality were similar for AML patients transplanted in CR1 and CR2 (P = 0.672 and P = 0.703), whereas they were higher for ALL patients transplanted in CR2 than for those transplanted in CR1 (P < 0.001 for both). The risks of relapse and overall mortality for those transplanted in CR3 + and non-CR increased in a stepwise manner for both diseases, with the relevance being stronger for ALL than for AML patients. These results suggest a significant difference in the effect of disease status at HCT on post-transplant outcomes in AML and ALL. Further investigation to incorporate measurable residual disease data is warranted.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Adulto , Feminino , Humanos , Leucemia Mieloide Aguda/diagnóstico , Masculino , Pessoa de Meia-Idade , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Indução de Remissão , Análise de Sobrevida , Transplante Homólogo , Resultado do Tratamento , Adulto Jovem
14.
Genet Epidemiol ; 43(5): 522-531, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30888715

RESUMO

Case-control genome-wide association studies (CC-GWAS) might provide valuable clues to the underlying pathophysiologic mechanisms of complex diseases, such as neurodegenerative disease and cancer. A commonly overlooked complication is that multiple distinct disease states might present with the same set of symptoms and hence share a clinical diagnosis. These disease states can only be distinguished based on a biomarker evaluation that might not be feasible in the whole set of cases in the large number of samples that are typically needed for CC-GWAS. Instead, the biomarkers are measured on a subset of cases. Or an external reliability study estimates the frequencies of the disease states of interest within the clinically diagnosed set of cases. These frequencies often vary by the genetic and/or nongenetic variables. We derive a simple approximation that relates the genetic effect estimates obtained in a traditional logistic regression model with the clinical diagnosis as the outcome variable to the genetic effect estimates in the relationship to the true disease state of interest. We performed simulation studies to assess the accuracy of the approximation that we have derived. We next applied the derived approximation to the analysis of the genetic basis of the innate immune system of Alzheimer's disease.


Assuntos
Doença/genética , Modelos Genéticos , Doença de Alzheimer/genética , Doença de Alzheimer/imunologia , Viés , Estudos de Casos e Controles , Simulação por Computador , Estudo de Associação Genômica Ampla , Humanos , Imunidade Inata/genética , Polimorfismo de Nucleotídeo Único/genética
15.
Rev Sci Tech ; 39(1): 119-130, 2020 Apr.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-32729573

RESUMO

According to the World Organisation for Animal Health (OIE), zoning is a risk management strategy for achieving the progressive control and eradication of animal diseases, and for providing guarantees for international trade. The implementation and effectiveness of zoning relies on the quality of Veterinary Services. Eradicating a disease and securing trading partners' recognition of this disease-free status demands resources, and promotes economic and fruitful development. It also guarantees the sanitary safety of trade, provided that OIE standards are applied and the World Trade Organization (WTO) Agreement on the Application of Sanitary and Phytosanitary Measures (SPS Agreement) is complied with. The OIE international standards and the SPS Agreement lay down provisions for the effective implementation of zoning and the recognition of disease-free zones. Although animal-disease-free statuses place such zones in a favourable position with regard to exporting their products to the international market, they can create internal restrictions between regions of the same country with differing statuses. As a general rule, each importing country implements its own evaluation procedure, independent of OIE official recognition. While this usually provides for information evaluation and an on-site inspection mission, there is no harmonisation between countries regarding the methodology or the information required for risk assessment. Recognition of a disease-free zone does not imply automatic permission to export any product from that zone. Firstly, it is necessary to request that the market be opened for each product in question, guaranteeing the conditions demanded by the target market (risk analysis and animal health certification). To benefit from external markets, there are ways of speeding up bilateral recognition of disease-free zones, such as bilateral veterinary agreements or free trade agreements that establish clear areas and procedures to be implemented by trading partner countries. The ongoing exchange of information among countries builds trust among their Veterinary Services and authorities, which leads to expedited recognition procedures. The work of the OIE (Pathway for the Evaluation of Performance of Veterinary Services [PVS Pathway], OIE Observatory) and the WTO Committee on Sanitary and Phytosanitary Measures (SPS Committee) (enforcement mechanisms) should be strengthened to assist countries in implementing zoning.


D'après l'Organisation mondiale de la santé animale (OIE), le « zonage ¼ est une stratégie de gestion du risque permettant d'avancer sur la voie du contrôle progressif des maladies animales et de leur éradication tout en fournissant des garanties dans le cadre des échanges internationaux. Sa mise en oeuvre et son efficacité sont tributaires de la qualité des Services vétérinaires. Si l'éradication réussie d'une maladie et la reconnaissance du statut indemne par les partenaires commerciaux mobilisent des ressources, elles constituent également une incitation majeure au développement productif et économique. En outre, elles garantissent la sécurité sanitaire des échanges internationaux, à condition d'appliquer les normes de l'OIE et de respecter les dispositions de l'Accord sur l'application des sanitaires et phytosanitaires (Accord SPS) de l'Organisation mondiale du commerce (OMC). L'OIE et l'Accord SPS établissent des dispositions pour la mise en oeuvre effective du « zonage ¼ et la reconnaissance des zones indemnes de maladies. Ce statut sanitaire place les zones qui en bénéficient en position favorable pour exporter leurs produits vers les marchés internationaux, mais il peut aussi entraîner des restrictions au niveau national par rapport aux zones du pays dotées d'un statut différent. Il est d'usage que chaque pays applique ses propres procédures indépendamment de la reconnaissance par l'OIE. Cela passe généralement par une évaluation de l'information fournie et par une mission d'inspection in situ, mais ni la méthodologie ni les informations requises pour mener à bien l'évaluation du risque n'ont fait l'objet d'une harmonisation de la part des pays. La reconnaissance d'une zone indemne ne vaut pas autorisation automatique d'exporter tout produit à partir de cette zone, car il faut encore, pour chaque produit, solliciter l'ouverture du marché et présenter des garanties démontrant que les conditions imposées par le marché de destination sont satisfaites (analyse du risque et certification sanitaire). Des méthodes existent pour bénéficier des marchés extérieurs en accélérant les reconnaissances bilatérales des zones indemnes de maladies ; il s'agit notamment des accords vétérinaires bilatéraux ou des accords de libre-échange, qui définissent clairement les cadres d'application et les procédures à mettre en place par les pays partenaires commerciaux. L'échange permanent d'informations entre les pays partenaires favorise la confiance entre leurs Services et Autorités vétérinaires respectifs, ce qui facilite d'autant ces procédures. Il convient de renforcer les travaux de l'OIE (Processus d'évaluation des performances des Services vétérinaires [Processus PVS], Observatoire des normes de l'OMC) et du Comité SPS de l'OMC (mécanismes d'évaluation de la conformité) afin d'aider les pays à mettre en oeuvre le « zonage ¼.


Según la Organización Mundial de Sanidad Animal (OIE), la «zonificación¼ es una estrategia de gestión del riesgo para avanzar en el control progresivo y la erradicación de enfermedades animales y para dar garantías al comercio internacional. Su implementación y eficacia dependen de la calidad de los Servicios Veterinarios. Erradicar una enfermedad y lograr el reconocimiento de tal situación por parte de socios comerciales implica recursos e incentiva el desarrollo productivo y económico. También garantiza la seguridad sanitaria del comercio siempre que se apliquen las normas de la OIE y se respete el Acuerdo sobre la Aplicación de Medidas Sanitarias y Fitosanitarias de la Organización Mundial del Comercio (OMC) (Acuerdo MSF). Las normas internacionales de la OIE y el Acuerdo MSF establecen disposiciones para una implementación efectiva de la «zonificación¼ y el reconocimiento de zonas libres de enfermedades. Este estatus sanitario posiciona favorablemente a dichas zonas para exportar sus productos al mercado internacional, pero puede generar restricciones internas respecto a regiones del mismo país con estatus diferentes. Lo habitual es que cada país aplique un proceso propio, independientemente del reconocimiento de la OIE. En general, contemplan una evaluación de la información y una misión de inspección in situ, pero no existe una armonización entre países ni respecto a la metodología ni respecto a la información requerida para la evaluación de riesgos. Este reconocimiento no implica el permiso automático para exportar cualquier producto desde esa zona, sino que se debe solicitar la apertura del mercado para cada producto en cuestión garantizando las condiciones exigidas por el mercado de destino (análisis del riesgo y certificación sanitaria). Para beneficiarse de los mercados externos, existen formas de agilizar los reconocimientos bilaterales de las zonas libres de enfermedades, como los acuerdos bilaterales veterinarios o los Acuerdos de Libre Comercio, mediante los cuales se establecen ámbitos y procedimientos claros a implementar por parte de los países socios comerciales. El intercambio de información permanente entre los países genera confianza entre sus Servicios y Autoridades Veterinarias, lo cual redunda en la agilización de estos procesos. Se debe reforzar el trabajo de la OIE (Proceso de Prestaciones de los Servicios Veterinarios [Proceso PVS], Observatorio de la OIE) y del Comité MSF de la OMC (mecanismos de observancia) para ayudar a los países a implementar la «zonificación¼.


Assuntos
Doenças dos Animais/prevenção & controle , Medicina Veterinária , Animais , Comércio , Cooperação Internacional , Internacionalidade , América do Sul
16.
Epidemiol Infect ; 147: e16, 2018 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-30264683

RESUMO

When assessing hepatitis B virus (HBV) status in clinical settings, it is unclear whether self-reports on vaccination history and previous HBV-test results have any diagnostic capacity. Of 3997 participants in a multi-centre HBV-screening study in Paris, France, 1090 were asked questions on their last HBV-test result and vaccination history. Discordance between self-reported history compared with infection status (determined by serology) was calculated for participants claiming 'negative', 'effective vaccine', 'past infection', or 'chronic infection' HBV-status. Serological testing revealed that 320 (29.4%) were non-immunised, 576 (52.8%) were vaccinated, 173 (15.9%) had resolved the infection and 21 (1.9%) were hepatitis B surface antigen positive. In total 208/426 (48.8%) participants with a self-reported history of 'negative' infection had a discordant serological result, in whom 128 (61.5%) were vaccinated and 74 (35.6%) had resolved infections. A total of 153/599 (25.5%) participants self-reporting 'effective vaccine' had a discordant serological result, in whom 100 (65.4%) were non-immunised and 50 (32.7%) were resolved infections. Discordance for declaring 'past' or 'chronic infection' occurred in 9/55 (16.4%) and 3/10 (30.0%) individuals, respectively. In conclusion, self-reported HBV-status based on participant history is partially inadequate for determining serological HBV-status, especially between negative/vaccinated individuals. More adapted patient education about HBV-status might be helpful for certain key populations.

17.
Rheumatol Int ; 38(Suppl 1): 211-218, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637325

RESUMO

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the German language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. The participating centres were asked to collect demographic and clinical data along the JAMAR questionnaire in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 319 JIA patients (2.8% systemic, 36.7% oligoarticular, 23.5% RF negative polyarthritis, and 37% other categories) and 100 healthy children were enrolled in eight centres. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the German version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and in clinical research.


Assuntos
Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Alemanha , Nível de Saúde , Humanos , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Tradução
18.
Rheumatol Int ; 38(Suppl 1): 219-226, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637326

RESUMO

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Greek language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographics, clinical data, and the JAMAR from 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). The Greek JAMAR was fully cross-culturally adapted with two forward and three backward translations. A total of 272 JIA patients (5.9% systemic, 57.7% oligoarticular, 21.3% RF negative poly-arthritis, 15.1% other categories), and 100 healthy children were enrolled in all centres. The JAMAR components discriminated well-healthy subjects from JIA patients; notably, there was no significant difference between healthy subjects and their affected peers in psychosocial quality of life and school-related items. All JAMAR components revealed good psychometric performances. In conclusion, the Greek version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and in clinical research.


Assuntos
Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Grécia , Nível de Saúde , Humanos , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Tradução
19.
Rheumatol Int ; 38(Suppl 1): 291-298, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637327

RESUMO

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Norwegian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic and clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 301 JIA patients (3.3% systemic, 41.2% oligoarticular, 25.9% RF negative polyarthritis, and 29.6% other categories) and 74 healthy children were enrolled in three centres. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Norwegian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.


Assuntos
Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Nível de Saúde , Humanos , Masculino , Noruega , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Tradução
20.
Rheumatol Int ; 38(Suppl 1): 235-242, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637330

RESUMO

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Hindi language. The reading comprehension of the questionnaire was tested in ten JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 275 JIA patients (28.4% systemic, 10.9% oligoarticular, 13.8% RF negative polyarthritis, 46.9% other categories) and 98 healthy children were enrolled in three centres. The JAMAR components discriminated well healthy subjects from JIA patients. Notably, there is no significant difference between the healthy subjects and their affected peers in the school-related problems variable. All JAMAR components revealed good psychometric performances. In conclusion, the Hindi version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.


Assuntos
Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Nível de Saúde , Humanos , Índia , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Tradução
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