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1.
Appetite ; 196: 107285, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38423301

RESUMO

According to the definition adopted in the European Union, novel foods are foods that were not consumed to a significant degree within the Union before May 15, 1997. This includes cultivated meat and insects. Novel foods are meant to play a critical role in the transition towards sustainable food systems. However, their success depends on whether and to what extent they will be incorporated into the diets at the population level. This review investigates consumers' perception of novel food products by narratively synthesising results on the influence of heuristics and biases triggered by emotions, personality traits, and socio-cultural factors. Empirical studies conducted in Western countries and published in English after 1997 were eligible, which led to 182 studies being included. Notably, most included studies focused on insects and cultivated meat. Disgust and fear are shown to be the main emotions driving rejection of novel foods, together with food neophobia and specific cultural norms common across countries included in the scope of the review. Familiarity with novel foods and curiosity both led to higher acceptance. Despite being investigated directly in a minority of studies, heuristics and related biases mostly fell under the "affect," the "natural-is-better," and the "trust" heuristics. The review also discusses to what extent consumers' perception reflects in the regulatory framework applicable to novel foods in the European Union, how it influences the regulation of insects and cultivated meat and which lessons can be drawn for the future of the regulatory framework.

2.
Aging Clin Exp Res ; 33(10): 2899-2907, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34319512

RESUMO

BACKGROUND: Policies to combat the COVID-19 pandemic have disrupted the screening, diagnosis, treatment, and monitoring of noncommunicable (NCD) patients while affecting NCD prevention and risk factor control. AIMS: To discuss how the first wave of the COVID-19 pandemic affected the health management of NCD patients, identify which aspects should be carried forward into future NCD management, and propose collaborative efforts among public-private institutions to effectively shape NCD care models. METHODS: The NCD Partnership, a collaboration between Upjohn and the European Innovation Partnership on Active and Healthy Ageing, held a virtual Advisory Board in July 2020 with multiple stakeholders; healthcare professionals (HCPs), policymakers, researchers, patient and informal carer advocacy groups, patient empowerment organizations, and industry experts. RESULTS: The Advisory Board identified barriers to NCD care during the COVID-19 pandemic in four areas: lack of NCD management guidelines; disruption to integrated care and shift from hospital-based NCD care to more community and primary level care; infodemics and a lack of reliable health information for patients and HCPs on how to manage NCDs; lack of availability, training, standardization, and regulation of digital health tools. CONCLUSIONS: Multistakeholder partnerships can promote swift changes to NCD prevention and patient care. Intra- and inter-communication between all stakeholders should be facilitated involving all players in the development of clinical guidelines and digital health tools, health and social care restructuring, and patient support in the short-, medium- and long-term future. A comprehensive response to NCDs should be delivered to improve patient outcomes by providing strategic, scientific, and economic support.


Assuntos
COVID-19 , Doenças não Transmissíveis , Cuidadores , Humanos , Doenças não Transmissíveis/epidemiologia , Doenças não Transmissíveis/prevenção & controle , Pandemias/prevenção & controle , SARS-CoV-2
3.
J Med Internet Res ; 23(1): e25652, 2021 01 29.
Artigo em Inglês | MEDLINE | ID: mdl-33464206

RESUMO

BACKGROUND: A reduction in the number of face-to-face medical examinations conducted for patients with noncommunicable diseases (NCDs) during the first wave of the COVID-19 pandemic has led to health care professionals quickly adopting different strategies to communicate with and monitor their patients. Such strategies include the increased use of digital health tools. However, patient preferences, privacy concerns, a lack of regulations, overregulation, and insufficient evidence on the efficacy of digital health tools may have hampered the potential positive benefits of using such tools to manage NCDs. OBJECTIVE: This viewpoint aims to discuss the views of an advisory board of patient and caregiver association members. Specifically, we aim to present this advisory board's view on the role of digital health tools in managing patients with NCDs during and after the COVID-19 pandemic, and to identify future directions based on patients' perspectives. METHODS: As an initiative under the NCD Partnership (PARTners in Ncds Engage foR building Strategies to improve Healthy ageing In Patients) model of Upjohn, a web-based advisory board of patient and caregiver advocates was held on July 28, 2020, to bring together key stakeholders from public and private sectors. RESULTS: The following key themes emerged: (1) technology developers should understand that the goals of patients may differ from those of health care professionals and other stakeholders; (2) patients, health care professionals, caregivers, and other end users need to be involved in the development of digital health tools at the earliest phase possible, to guarantee usability, efficacy, and adoption; (3) digital health tools must be better tailored to people with complex conditions, such as multimorbidity, older age, and cognitive or sensory impairment; and (4) some patients do not want or are unable to use digital health care tools, so adequate alternatives should always be available. CONCLUSIONS: There was consensus that public-private partnership models, such as the Upjohn NCD Partnership, can be effective models that foster innovation by integrating multiple perspectives (eg, patients' perspectives) into the design, development, and implementation of digital and nondigital health tools, with the main overall objective of improving the life of patients with NCDs.


Assuntos
COVID-19/epidemiologia , Cuidadores/psicologia , Atenção à Saúde/métodos , Gerenciamento Clínico , Doenças não Transmissíveis/terapia , Satisfação do Paciente/estatística & dados numéricos , Telemedicina/métodos , Fatores Etários , Idoso , Humanos , Pessoa de Meia-Idade , Pandemias , Privacidade , SARS-CoV-2
4.
Aging Clin Exp Res ; 32(7): 1353-1358, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32277438

RESUMO

Due to the increase in the older population in Europe and associated rise in the absolute number of persons with Non-Communicable Diseases (NCDs), it is becoming increasingly important to find ways to promote healthy ageing, which is defined as the process of developing and maintaining the functional ability that enables well-being in older age. Older persons with NCDs can have complex care needs due to the increased risk of frailty, multimorbidity, and polypharmacy. However, current health systems in Europe often provide fragmented care for older people with NCDs; many receive disjointed care from numerous specialists or via different levels of care. In the current article, we discuss barriers and challenges in implementing integrated care models in European settings for older NCD patients. Specifically, we discuss the need for greater use of case managers in the care and treatment persons with complex care needs as well as the lack of training and education in healthcare professionals on topics related to multimorbidity, frailty, and polypharmacy. We discuss the limitations that arise from the current focus on disease-specific guidelines and care models that do not take comorbid conditions into account, and the lack of good quality evidence that evaluates the effectiveness of integrated care interventions, especially in European health settings. We highlight the importance of evaluating and monitoring mental health in conjunction with somatic symptoms in NCD patients and discuss the integral role of information and communication technology in healthcare to streamline integrated care processes and help to achieve better outcomes for patients.


Assuntos
Prestação Integrada de Cuidados de Saúde , Doenças não Transmissíveis , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Fragilidade , Humanos , Multimorbidade , Doenças não Transmissíveis/epidemiologia , Polimedicação
5.
Aging Clin Exp Res ; 32(7): 1189-1194, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32458356

RESUMO

The early stages of the COVID-19 pandemic have focused on containing SARS-CoV-2 infection and identifying treatment strategies. While controlling this communicable disease is of utmost importance, the long-term effect on individuals with non-communicable diseases (NCD) is significant. Although certain NCDs appear to increase the severity of COVID-19 and mortality risk, SARS-CoV-2 infection in survivors with NCDs may also affect the progression of their pre-existing clinical conditions. Infection containment measures will have substantial short- and long-term consequences; social distancing and quarantine restrictions will reduce physical activity and increase other unhealthy lifestyles, thus increasing NCD risk factors and worsening clinical symptoms. Vitamin D levels might decrease and there might be a rise in mental health disorders. Many countries have made changes to routine management of NCD patients, e.g., cancelling non-urgent outpatient visits, which will have important implications for NCD management, diagnosis of new-onset NCDs, medication adherence, and NCD progression. We may have opportunities to learn from this unprecedented crisis on how to leverage healthcare technologies and improve procedures to optimize healthcare service provision. This article discusses how the COVID-19 outbreak and related infection control measures could hit the most frail individuals, worsening the condition of NCD patients, while further jeopardizing the sustainability of the healthcare systems. We suggest ways to define an integrated strategy that could involve both public institutional entities and the private sector to safeguard frail individuals and mitigate the impact of the outbreak.


Assuntos
Infecções por Coronavirus/complicações , Idoso Fragilizado/psicologia , Fragilidade/complicações , Envelhecimento Saudável , Doenças não Transmissíveis/epidemiologia , Pneumonia Viral/complicações , Idoso , Betacoronavirus , COVID-19 , Doença Crônica/epidemiologia , Infecções por Coronavirus/mortalidade , Infecções por Coronavirus/prevenção & controle , Atenção à Saúde , Surtos de Doenças , Progressão da Doença , Europa (Continente)/epidemiologia , Fragilidade/psicologia , Humanos , Controle de Infecções , Solidão , Pandemias/prevenção & controle , Pneumonia Viral/mortalidade , Pneumonia Viral/prevenção & controle , Prevalência , Quarentena , SARS-CoV-2
6.
Aging Clin Exp Res ; 31(11): 1689-1693, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31317518

RESUMO

Information and communication technology (ICT) within healthcare covers a range of technologies that aim to improve disease management or help modify health behaviors. We discuss clinical practice and system-related ICT challenges in Europe in relation to healthy ageing in people with non-communicable diseases (NCD). Although ICT use within healthcare is increasing, several challenges remain, including: (i) variations in ICT use within Europe; (ii) under-use of electronic health records; (iii) frequent use of single domain outcomes; (iv) shortage of clinical trials on current technologies; (v) lack of involvement of patients in ICT development; (vii) need to develop and adapt ICTs for people with cognitive or sensory impairment; and (viii) need to use longitudinal big data better. Close collaboration between key stakeholders (academia, biopharmaceutical and technology industries, healthcare, policy makers, patients, and caregivers) should foster both technological innovation and innovative models to facilitate more cost-effective approaches, ultimately leading to increased healthy ageing.


Assuntos
Atenção à Saúde/normas , Envelhecimento Saudável , Tecnologia da Informação , Europa (Continente) , Humanos , Doenças não Transmissíveis/terapia
7.
Aging Clin Exp Res ; 28(3): 371-81, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26630945

RESUMO

Nonadherence to medication regimens is a worldwide challenge; adherence rates range from 38 to 57 % in older populations with an average rate of less than 45 % and nonadherence contributes to adverse drug events, increased emergency visits and hospitalisations. Accurate measurement of medication adherence is important in terms of both research and clinical practice. However, the identification of an objective approach to measure nonadherence is still an ongoing challenge. The aim of this Position Paper is to describe the advantages and disadvantages of the known medication adherence tools (self-report, pill count, medication event monitoring system (MEMS) and electronic monitoring devices, therapeutic drug monitoring, pharmacy records based on pharmacy refill and pharmacy claims databases) to provide the appropriate criteria to assess medication adherence in older persons. To the best of our knowledge, no gold standard has been identified in adherence measurement and no single method is sufficiently reliable and accurate. A combination of methods appears to be the most suitable. Secondly, adherence assessment should always consider tools enabling polypharmacy adherence assessment. Moreover, it is increasingly evident that adherence, as a process, has to be assessed over time and not just at one evaluation time point (drug discontinuation). When cognitive deficits or functional impairments may impair reliability of adherence assessment, a comprehensive geriatric assessment should be performed and the caregiver involved. Finally, studies considering the possible implementation in clinical practice of adherence assessment tools validated in research are needed.


Assuntos
Avaliação Geriátrica/métodos , Adesão à Medicação/psicologia , Sistemas de Notificação de Reações Adversas a Medicamentos/estatística & dados numéricos , Idoso , Bases de Dados de Produtos Farmacêuticos/estatística & dados numéricos , Monitoramento de Medicamentos/métodos , Serviços de Saúde para Idosos , Humanos , Reprodutibilidade dos Testes
8.
Hepatology ; 56(1): 86-94, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22331649

RESUMO

UNLABELLED: In patients with chronic hepatitis C, the hepatitis C virus (HCV) RNA level is an important predictor of treatment response. To explore the relationship of HCV RNA with viral and demographic factors, as well as IL28B genotype, we examined viral levels in an ethnically diverse group of injection drug users (IDUs). Between 1998 and 2000, the Urban Health Study (UHS) recruited IDUs from street settings in San Francisco Bay area neighborhoods. Participants who were positive by HCV enzyme immunoassay were tested for HCV viremia by a branched-chain DNA assay. HCV genotype was determined by sequencing the HCV nonstructural 5B protein region. For a subset of participants, IL28B rs12979860 genotype was determined by Taqman. Among 1,701 participants with HCV viremia, median age was 46 years and median duration of injection drug use was 26 years; 56.0% were African American and 34.0% were of European ancestry (non-Hispanic). Human immunodeficiency virus type 1 (HIV-1) prevalence was 13.9%. The overall median HCV RNA level was 6.45 log(10) copies/mL. In unadjusted analyses, higher levels were found with older age, male gender, African-American ancestry, hepatitis B virus infection, HIV-1 infection, and IL28B rs12979860-CC genotype; compared to participants infected with HCV genotype 1, HCV RNA was lower in participants with genotypes 3 or 4. In an adjusted analysis, age, gender, racial ancestry, HIV-1 infection, HCV genotype, and IL28B rs12979860 genotype were all independently associated with HCV RNA. CONCLUSION: The level of HCV viremia is influenced by a large number of demographic, viral, and human genetic factors.


Assuntos
Hepacivirus/genética , Hepatite C Crônica/genética , Interleucinas/genética , RNA Viral/genética , Abuso de Substâncias por Via Intravenosa/virologia , Adulto , Fatores Etários , Estudos de Coortes , Feminino , Genótipo , Infecções por HIV/etnologia , Infecções por HIV/genética , Hepatite C Crônica/etnologia , Humanos , Interferons , Interleucinas/metabolismo , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Reação em Cadeia da Polimerase/métodos , Valor Preditivo dos Testes , Prevalência , Medição de Risco , Fatores Sexuais , Estatísticas não Paramétricas , Abuso de Substâncias por Via Intravenosa/etnologia , Abuso de Substâncias por Via Intravenosa/fisiopatologia , População Urbana , Carga Viral , Viremia/etnologia , Viremia/genética , Viremia/virologia , Adulto Jovem
9.
Proc Natl Acad Sci U S A ; 107(2): 803-8, 2010 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-20080756

RESUMO

Limited responsiveness to IFN-alpha in hepatitis C virus (HCV)-infected African-Americans compared to European Americans (AAs vs. EAs) hinders the management of HCV. Here, we studied healthy non-HCV-infected AA and EA subjects to test whether immune cell response to IFN-alpha is determined directly by race. We compared baseline and IFN-alpha-induced signal transducer and activator of transcription (STAT)-1, STAT-2, STAT-3, STAT-4, and STAT-5 protein and phosphorylation levels in purified T cells, global transcription, and a genomewide single-nucleotide polymorphism (SNP) profile of healthy AA and EA blood donors. In contrast to HCV-infected individuals, healthy AAs displayed no evidence of reduced STAT activation or IFN-alpha-stimulated gene expression compared to EAs. Although >200 genes reacted to IFN-alpha treatment, race had no impact on any of them. The only gene differentially expressed by the two races (NUDT3, P < 10(-7)) was not affected by IFN-alpha and bears no known relationship to IFN-alpha signaling or HCV pathogenesis. Genomewide analysis confirmed the self-proclaimed racial attribution of most donors, and numerous race-associated SNPs were identified within loci involved in IFN-alpha signaling, although they clearly did not affect responsiveness in the absence of HCV. We conclude that racial differences observed in HCV-infected patients in the responsiveness to IFN-alpha are unrelated to inherent racial differences in IFN-alpha signaling and more likely due to polymorphisms affecting the hosts' response to HCV, which in turn may lead to a distinct disease pathophysiology responsible for altered IFN signaling and treatment response.


Assuntos
Hepatite C/genética , Interferon-alfa/genética , Grupos Raciais/genética , Adulto , População Negra/genética , Sequência Conservada , Feminino , Citometria de Fluxo , Amplificação de Genes , Perfilação da Expressão Gênica , Genoma Humano , Hepacivirus/genética , Hepacivirus/imunologia , Humanos , Interferon-alfa/fisiologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , RNA Viral/genética , Valores de Referência , Transdução de Sinais/genética , População Branca/genética
10.
Nat Plants ; 9(12): 1958-1961, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-38052952

RESUMO

Which option for regulating plants derived from new genomic techniques in European Union law is feasible and justifiable scientifically? The European Commission has proposed a new regulation on plants obtained by specific new genomic techniques, which is now subject to discussion in the legislative process. From the perspective of the European Commission's envisaged legal reforms of European Union law towards the integration of greater sustainability, we conclude that the option focusing on plant traits delivering sustainability benefits should be chosen, which is most fitting to facilitate a contribution to climate action, the transition towards climate neutrality, and promptly integrate sustainability into all food-related policies. To assist the decision-making in the legislative process, we outline six regulatory options resulting from regulatory research involving interdisciplinary teams.


Assuntos
Genômica , União Europeia
11.
J Clin Med ; 12(17)2023 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-37685750

RESUMO

BACKGROUND: Bleeding is one of the most fearsome and life-threatening complications after thyroid surgery. Several medical devices and haemostatic agents have been proposed to improve haemostasis during total and hemi-thyroidectomy. Resorbable polysaccharide powder (HaemoCer™) is a plant-based polymer that is helpful in terms of the coagulation cascade becoming a gel and forming a barrier to prevent further bleeding, having tested for haemostasis in different districts. The aim of the current study was the evaluation of drain output, the presence of significant postoperative blood loss and complications in patients treated with or without resorbable polysaccharide powder during thyroid surgery. METHODS: From January to December 2022, postoperative bleeding, drainage output and the postoperative wound events of patients undergoing thyroid surgery, in a tertiary centre, with haemostasis completion with resorbable polysaccharide powder (Group A) or not (Group B), were retrospectively analysed. RESULTS: Eighty-one patients in Group A received a haemostasis improvement with the use of reabsorbable polysaccharide powder, and 96 patients in Group B received thyroid surgery alone. Patients in Group A presented lower drainage output (0.005), lower incidence of neck haematoma (0.005) and seroma (0.021), confirmed also by multivariate analysis. CONCLUSIONS: The resorbable polysaccharide powder, in the current series, appeared to be an effective agent in achieving haemostasis in thyroidectomies, reducing the postoperative drainage output, and also neck events such as neck haematoma and seroma, improving the postoperative comfort of the patients. Further larger comparative studies are needed to address this issue.

12.
Blood ; 116(15): 2836-8, 2010 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-20644109

RESUMO

African individuals harbor molecular RH variants, which permit alloantibody formation to high-prevalence Rh antigens after transfusions. Genotyping identifies such RH variants, which are often missed by serologic blood group typing. Comprehensive molecular blood group analysis using 3 genotyping platforms, nucleotide sequencing, and serologic evaluation was performed on a 7-year-old African male with sickle cell disease who developed an "e-like" antibody shortly after initiating monthly red blood cell (RBC) transfusions for silent stroke. Genotyping of the RH variant predicted a severe shortage of compatible RBCs for long-term transfusion support, which contributed to the decision for hematopoetic stem cell transplantation. RH genotyping confirmed the RH variant in the human leukocyte antigen-matched sibling donor. The patient's (C)ce(s) type 1 haplotype occurs in up to 11% of African American sickle cell disease patients; however, haplotype-matched RBCs were serologically incompatible. This case documents that blood unit selection should be based on genotype rather than one matching haplotype.


Assuntos
Anemia Falciforme/genética , Anemia Falciforme/terapia , Transplante de Células-Tronco Hematopoéticas , Sistema do Grupo Sanguíneo Rh-Hr/genética , Negro ou Afro-Americano/genética , Anemia Falciforme/sangue , Criança , Seleção do Doador , Transfusão de Eritrócitos , Genótipo , Humanos , Masculino , Polimorfismo Genético
13.
Front Digit Health ; 3: 669869, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34713142

RESUMO

Artificial intelligence (AI) tools are increasingly being used within healthcare for various purposes, including helping patients to adhere to drug regimens. The aim of this narrative review was to describe: (1) studies on AI tools that can be used to measure and increase medication adherence in patients with non-communicable diseases (NCDs); (2) the benefits of using AI for these purposes; (3) challenges of the use of AI in healthcare; and (4) priorities for future research. We discuss the current AI technologies, including mobile phone applications, reminder systems, tools for patient empowerment, instruments that can be used in integrated care, and machine learning. The use of AI may be key to understanding the complex interplay of factors that underly medication non-adherence in NCD patients. AI-assisted interventions aiming to improve communication between patients and physicians, monitor drug consumption, empower patients, and ultimately, increase adherence levels may lead to better clinical outcomes and increase the quality of life of NCD patients. However, the use of AI in healthcare is challenged by numerous factors; the characteristics of users can impact the effectiveness of an AI tool, which may lead to further inequalities in healthcare, and there may be concerns that it could depersonalize medicine. The success and widespread use of AI technologies will depend on data storage capacity, processing power, and other infrastructure capacities within healthcare systems. Research is needed to evaluate the effectiveness of AI solutions in different patient groups and establish the barriers to widespread adoption, especially in light of the COVID-19 pandemic, which has led to a rapid increase in the use and development of digital health technologies.

14.
BMC Genomics ; 10: 301, 2009 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-19583830

RESUMO

BACKGROUND: GLV-1h68 is an attenuated recombinant vaccinia virus (VACV) that selectively colonizes established human xenografts inducing their complete regression. RESULTS: Here, we explored xenograft/VACV/host interactions in vivo adopting organism-specific expression arrays and tumor cell/VACV in vitro comparing VACV replication patterns. There were no clear-cut differences in vitro among responding and non-responding tumors, however, tumor rejection was associated in vivo with activation of interferon-stimulated genes (ISGs) and innate immune host's effector functions (IEFs) correlating with VACV colonization of the xenografts. These signatures precisely reproduce those observed in humans during immune-mediated tissue-specific destruction (TSD) that causes tumor or allograft rejection, autoimmunity or clearance of pathogens. We recently defined these common pathways in the "immunologic constant of rejection" hypothesis (ICR). CONCLUSION: This study provides the first prospective validation of a universal mechanism associated with TSD. Thus, xenograft infection by oncolytic VACV, beyond offering a promising therapy of established cancers, may represent a reliable pre-clinical model to test therapeutic strategies aimed at modulating the central pathways leading to TSD; this information may lead to the identification of principles that could refine the treatment of cancer and chronic infection by immune stimulation or autoimmunity and allograft rejection through immune tolerance.


Assuntos
Terapia Viral Oncolítica , Vírus Oncolíticos/imunologia , Vaccinia virus/imunologia , Ensaios Antitumorais Modelo de Xenoenxerto , Animais , Linhagem Celular Tumoral , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Humanos , Camundongos , Camundongos Nus , Análise de Sequência com Séries de Oligonucleotídeos , Análise de Sequência de DNA
15.
J Transl Med ; 7: 85, 2009 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-19821982

RESUMO

BACKGROUND: Hepatitis C virus (HCV) infection is a major cause of hepatocellular carcinoma (HCC) worldwide. The molecular mechanisms of HCV-induced hepatocarcinogenesis are not yet fully elucidated. Besides indirect effects as tissue inflammation and regeneration, a more direct oncogenic activity of HCV can be postulated leading to an altered expression of cellular genes by early HCV viral proteins. In the present study, a comparison of gene expression patterns has been performed by microarray analysis on liver biopsies from HCV-positive HCC patients and HCV-negative controls. METHODS: Gene expression profiling of liver tissues has been performed using a high-density microarray containing 36'000 oligos, representing 90% of the human genes. Samples were obtained from 14 patients affected by HCV-related HCC and 7 HCV-negative non-liver-cancer patients, enrolled at INT in Naples. Transcriptional profiles identified in liver biopsies from HCC nodules and paired non-adjacent non-HCC liver tissue of the same HCV-positive patients were compared to those from HCV-negative controls by the Cluster program. The pathway analysis was performed using the BRB-Array- Tools based on the "Ingenuity System Database". Significance threshold of t-test was set at 0.001. RESULTS: Significant differences were found between the expression patterns of several genes falling into different metabolic and inflammation/immunity pathways in HCV-related HCC tissues as well as the non-HCC counterpart compared to normal liver tissues. Only few genes were found differentially expressed between HCV-related HCC tissues and paired non-HCC counterpart. CONCLUSION: In this study, informative data on the global gene expression pattern of HCV-related HCC and non-HCC counterpart, as well as on their difference with the one observed in normal liver tissues have been obtained. These results may lead to the identification of specific biomarkers relevant to develop tools for detection, diagnosis, and classification of HCV-related HCC.


Assuntos
Biomarcadores , Carcinoma Hepatocelular , Perfilação da Expressão Gênica , Hepacivirus/genética , Hepatite C/genética , Neoplasias Hepáticas , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/virologia , Análise por Conglomerados , Regulação Neoplásica da Expressão Gênica , Humanos , Fígado/fisiologia , Fígado/virologia , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/virologia , Análise de Sequência com Séries de Oligonucleotídeos
16.
BMC Bioinformatics ; 9 Suppl 2: S5, 2008 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-18387207

RESUMO

BACKGROUND: Baculovirus-expressed HIV-1 Pr55gag Virus-Like Particles (HIV-VLPs) induce maturation and activation of monocyte-derived dendritic cells (MDDCs) with a production of Th1- and Th2-specific cytokines. RESULTS: The analysis of genomic transcriptional profile of MDDCs, obtained from normal healthy donors and activated by HIV-VLPs, show the modulation of genes involved in the morphological and functional changes characterizing the MDDCs activation and maturation. Similar data are obtained using peripheral blood mononuclear cells (PBMCs), without further selection, showing the feasibility of a direct and "simplified" experimental procedure. CONCLUSIONS: The results here described show that the maturation pattern induced by HIV-VLPs in ex vivo generated MDDCs, can be observed also in CD14-expressing freshly derived PBMCs, with the possible identification of genetic predictors of individual response to immunogens.


Assuntos
Proteínas Sanguíneas/metabolismo , Perfilação da Expressão Gênica/métodos , HIV/metabolismo , Proteínas do Vírus da Imunodeficiência Humana/farmacologia , Leucócitos Mononucleares/efeitos dos fármacos , Leucócitos Mononucleares/metabolismo , Vírion/metabolismo , Algoritmos , Células Cultivadas , Regulação da Expressão Gênica/efeitos dos fármacos , Regulação da Expressão Gênica/fisiologia , Humanos
17.
J Transl Med ; 6: 64, 2008 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-18973698

RESUMO

The need for fast, efficient, and less costly means to screen genetic variants associated with disease predisposition led us to develop an oligo-nucleotide array-based process for gene-specific single nucleotide polymorphism (SNP) genotyping. This cost-effective, high-throughput strategy has high sensitivity and the same degree of accuracy as direct sequencing, the current gold standard for genetic screening. We used the BRCA1 breast and ovarian cancer predisposing gene model for the validation of the accuracy and efficiency of our strategy. This process could detect point mutations, insertions or deletions of any length, of known and unknown variants even in heterozygous conditions without affecting sensitivity and specificity. The system could be applied to other disorders and can also be custom-designed to include a number of genes related to specific clinical conditions. This system is particularly useful for the screening of long genomic regions with relatively infrequent but clinically relevant variants, while drastically cutting time and costs in comparison to high-throughput sequencing.


Assuntos
Proteína BRCA1/genética , Análise Mutacional de DNA/métodos , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Polimorfismo de Nucleotídeo Único/genética , Sequência de Bases , Neoplasias da Mama/genética , Cromossomos Humanos/genética , Feminino , Genoma Humano/genética , Humanos , Neoplasias Ovarianas/genética , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
18.
Mutat Res ; 644(1-2): 64-70, 2008 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-18694767

RESUMO

Germline mutations of high penetrant BRCA1 and BRCA2 genes have been associated to hereditary breast cancer risk, while polymorphic variants of the two genes still have an unknown role in breast pathogenesis. The aim of our study was to characterize BRCA1 and BRCA2 genes polymorphic variants in familial breast cancer. 110 patients affected by familial breast and/or ovarian cancer have been consecutively enrolled according to family history and BRCA mutation risk. All of them have been screened for BRCA1 and BRCA2 pathogenetic mutations, SNPs and intronic variants. In silico analysis have been also performed using different computational methods to individualize genetic variations that can alter the two genes expression and function. BRCA1 resulted mutated in 14% while BRCA2 in 3% of cases, while 80% of patients presented at least one polymorphism. A neural network splicing prediction model individualized one BRCA1 and one BRCA2 intronic variants able to determine alternative splicing. Furthermore, Q356R BRCA1 and N289H BRCA2 appear to show a possible harmful role also due to their location in functional regions of the two genes. However, in silico data are not always consistent with biological evidences. In conclusion, SNPs profile provides a basis for DNA-based cancer risk classification and help to define the gene alterations that could influence biochemistry activity protein or could modify drug sensitivity.


Assuntos
Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Variação Genética , Adulto , Sequência de Bases , Análise Mutacional de DNA , Feminino , Mutação em Linhagem Germinativa , Humanos , Íntrons , Masculino , Pessoa de Meia-Idade , Neoplasias Ovarianas/genética , Polimorfismo de Nucleotídeo Único , Sítios de Splice de RNA
19.
J Pharm Biomed Anal ; 46(1): 157-64, 2008 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-18035512

RESUMO

The low molecular weight (LMW) serum proteome (<15 kDa) is the most generally informative from a medical point of view. Different sample pre-treatment approaches and devices for serum depletion in high-abundant proteins were tested in order to analyze, by MALDI-TOF-MS (both in "linear" and "reflectron" acquisition mode), the serum low molecular weight proteins/peptides. The best results in terms of detected ions number and abundance were obtained by using ultrafiltration of serum on 30 kDa molecular weight cut off membranes followed by miniaturized reverse-phase solid-phase extraction (mu-SPE) as sample pre-treatment; this procedure yielded also satisfactory within-sample and sample-to-sample repeatability (on both m/z values and peak intensity of the main observable ions). The procedure was finally applied to serum samples of breast cancer patients, and the relevant results compared to "normal" samples seem to be promising for the individuation of different profiles ("linear" and "reflectron" mode) and/or peptides capable of differentiating for malignancies ("reflectron" mode).


Assuntos
Proteínas Sanguíneas/análise , Proteínas Sanguíneas/isolamento & purificação , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Biomarcadores/sangue , Biomarcadores/química , Biomarcadores/metabolismo , Proteínas Sanguíneas/química , Neoplasias da Mama/sangue , Feminino , Humanos , Peso Molecular , Processamento de Proteína Pós-Traducional , Reprodutibilidade dos Testes , Albumina Sérica/análise , Albumina Sérica/química , Albumina Sérica/isolamento & purificação , Microextração em Fase Sólida/métodos , Ultrafiltração/métodos
20.
J Transl Med ; 5: 22, 2007 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-17480220

RESUMO

The high prevalence of nasopharyngeal cancer (NPC) in Southern Asia and Mediterranean Northern Africa suggests genetic predisposition among other factors. While Human Leukocyte Antigen (HLA) haplotypes have been conclusively associated with NPC predisposition in Asians, Northern African Maghrebians have been less intensely studied. However, low resolution serological methods identified weak positive associations with HLA-B5, B13 and B18 and a negative with HLA-B14. Using sequence based typing (SBT), we performed a direct comparison of HLA class I frequencies in a cohort of 136 Tunisian patients with NPC matched for gender, age and geographical residence to 148 normal Tunisians. The bimodal age distribution of NPC in Maghrebians was also taken into account. HLA frequencies in normal Tunisians were also compared with those of Northern Moroccan Berbers (ME) to evaluate whether the Tunisian population in this study could be considered representative of other Maghrebian populations. HLA-B14 and -Cw08 were negatively associated with NPC (odd ratio = 0.09 and 0.18 respectively, Fisher p(2)-value = 0.0001 and = 0.003). Moreover, positive associations were observed for HLA-B-18, -B51 (split of -B5) and -B57 (p(2)-value < 0.025 in all) confirming previous findings in Maghrebs. The HLA-B14/Cw*08 haplotype frequency (HF) was 0.007 in NPC patients compared to 0.057 in both Tunisian (OR = 0.12; p(2)-value = 0.001) and Moroccan controls. This study confirms several previous associations noted by serologic typing between HLA class I alleles and the prevalence of NPC in Maghrebians populations. In addition, we identified a putative haplotype rare in Tunisian patients with NPC that may serve as a genetic marker for further susceptibility studies.


Assuntos
Alelos , População Negra/genética , Predisposição Genética para Doença , Antígenos de Histocompatibilidade Classe I/genética , Antígenos de Histocompatibilidade Classe I/imunologia , Neoplasias Nasofaríngeas/epidemiologia , Neoplasias Nasofaríngeas/genética , Adulto , Distribuição por Idade , Estudos de Casos e Controles , Frequência do Gene , Loci Gênicos , Antígenos HLA-A/genética , Antígenos HLA-A/imunologia , Antígenos HLA-B/genética , Antígenos HLA-B/imunologia , Antígenos HLA-C/genética , Antígenos HLA-C/imunologia , Haplótipos , Saúde , Humanos , Neoplasias Nasofaríngeas/imunologia , Prevalência , Tunísia/epidemiologia
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