RESUMO
Physical activity (PA) offers many benefits for human health. However, beginners often feel discouraged when introduced to basic exercise routines. Due to lack of experience and personal guidance, they might abandon efforts or experience musculoskeletal injuries. Additionally, due to phenomena such as pandemics and limited access to supervised exercise spaces, especially for the elderly, the need to develop personalized systems has become apparent. In this work, we develop a monitored physical exercise system that offers real-time guidance and recommendations during exercise, designed to assist users in their home environment. For this purpose, we used posture estimation interfaces that recognize body movement using a computer or smartphone camera. The chosen pose estimation model was BlazePose. Machine learning and signal processing techniques were used to identify the exercise currently being performed. The performances of three machine learning classifiers were evaluated for the exercise recognition task, achieving test-set accuracy between 94.76% and 100%. The research methodology included kinematic analysis (KA) of five selected exercises and statistical studies on performance and range of motion (ROM), which enabled the identification of deviations from the expected exercise execution to support guidance. To this end, data was collected from 57 volunteers, contributing to a comprehensive understanding of exercise performance. By leveraging the capabilities of the BlazePose model, an interactive tool for patients is proposed that could support rehabilitation programs remotely.
Assuntos
Terapia por Exercício , Exercício Físico , Idoso , Humanos , Emoções , Aprendizado de Máquina , MovimentoRESUMO
BACKGROUND: The association between blood pressure (BP) levels and BP variability (BPV) following acute ischaemic stroke (AIS) and outcome remains controversial. AIMS: To investigate the predictive value of systolic BP (SBP) and diastolic BP (DBP) and BPV measured using 24-h ambulatory blood pressure monitoring (ABPM) methods during AIS regarding outcome. METHODS: A total of 228 AIS patients (175 without prior disability) underwent ABPM every 20 min within 48 h from onset using an automated oscillometric device (TM 2430, A&D Company Ltd) during day time (7:00-22:59) and night time (23:00-6:59). Risk factors, stroke subtypes, clinical and laboratory findings were recorded. Mean BP parameters and several BPV indices were calculated. End-points were death and unfavourable functional outcome (disability/death) at 3 months. RESULTS: A total of 61 (26.7%) patients eventually died. Multivariate logistic regression analysis revealed that only mean night-time DBP (hazard ratio (HR): 1.04; 95% confidence interval (CI): 1.00-1.07) was an independent prognostic factor of death. Of the 175 patients without prior disability, 79 (45.1%) finally met the end-point of unfavourable functional outcome. Mean 24-h SBP (HR: 1.03; 95% CI: 1.00-1.05), day-time SBP (HR: 1.02; 95% CI: 1.00-1.05) and night-time SBP (HR: 1.03; 95% CI: 1.01-1.05), SBP nocturnal decline (HR: 0.93; 95% CI: 0.88-0.99), mean 24-h DBP (HR: 1.08; 95% CI: 1.03-1.13), day-time DBP (HR: 1.07; 95% CI: 1.03-1.12) and night-time DBP (HR: 1.06; 95% CI: 1.02-1.10) were independent prognostic factors of an unfavourable functional outcome. CONCLUSIONS: In contrast with BPV indices, ABPM-derived BP levels and lower or absence of BP nocturnal decline in the acute phase are prognostic factors of outcome in AIS patients.
Assuntos
Isquemia Encefálica , Hipertensão , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Pressão Sanguínea , Prognóstico , Monitorização Ambulatorial da Pressão Arterial/métodos , Isquemia Encefálica/diagnóstico , Acidente Vascular Cerebral/diagnóstico , Hipertensão/epidemiologiaRESUMO
The purpose of the present study was to examine whether a visual stimuli program during soccer training can affect reaction time (RT), cognitive function, and physical fitness in adolescent soccer players. Thirty-eight male soccer players aged 10−15 were randomly assigned to either the intervention (Group A) or the control group (Group B). At baseline and at the end of the 6-month study FITLIGHT Trainer, the Cognitive Function Scanner Mobile Test Suite, a Virtual Reality (VR) game, and the ALPHAFitness and the Eurofit test batteries were used to measure participants' abilities. After the baseline assessment, Group A followed their regular soccer training combined with a visual stimuli program, while Group B continued their regular soccer training program alone for 6 months. At the end of the 6-month study, Group A showed statistically significant improvements in simple RT by 11.8% (p = 0.002), repeated sprints by 13.4% (p ≤ 0.001), and Pen-to-Point Cognitive Function by 71.62% (p < 0.001) and 72.51% for dominant and non-dominant hands, respectively. However, a between-groups analysis showed that there was no statistically significant difference between the two groups in most of the measurements studied. In conclusion, a visual stimuli training program does not seem to add any value to the traditional soccer training program for adolescents. Nevertheless, this study helps to underline the potential of newly emerging technology as a tool for the assessment of RT.
Assuntos
Desempenho Atlético , Futebol , Adolescente , Cognição , Humanos , Masculino , Aptidão Física , Tempo de ReaçãoRESUMO
BACKGROUND: Despite the production of clinical practice guidelines (CPGs) in many medical areas, their use is not sufficiently adopted in clinical practice. Incorporation of CPGs in knowledge tools (KnowT) or decision support systems (DSS) for routine use can improve healthcare providers' compliance to CPGs. MATERIALS AND METHODS: Clinical practice guidelines for gestational diabetes mellitus (GDM) were searched for, collected and compared. The CPG that met pre-specified criteria ([a] published by a European or American organization between 2010 and 2018, [b] being developed a systematic way and [c] having statements of "level of evidence" and "strength of recommendation") was chosen for implementation (Endocrine Society, 2013). Its recommendations were deconstructed, re-organized and reconstructed as an algorithm (in the form of a flowchart), which was integrated into a KnowT. Content completeness and evaluation of CPG by the Guideline Implementability Appraisal tool (GLIA) were performed as well. The primary objective was the development of a clinical algorithm in the field of GDM and its integration into a KnowT. The secondary objective was to demonstrate the completeness of the CPG content and evaluate its implementability in the KnowT. RESULTS: Endocrine Society 2013 CPG was restructured as a flowchart, and a KnowT was constructed with the use of the "Openlabyrinth" software. The completeness of the content was confirmed, and GLIA appraisal demonstrated its implementability. CONCLUSION: Endocrine Society 2013 CPG for GDM is a complete set of recommendations. Its structure makes possible the design of a clinical algorithm and its implementation into a KnowT.
Assuntos
Algoritmos , Diabetes Gestacional/terapia , Fidelidade a Diretrizes , Ciência da Implementação , Guias de Prática Clínica como Assunto , Gravidez em Diabéticas/terapia , Diabetes Gestacional/diagnóstico , Gerenciamento Clínico , Feminino , Humanos , Programas de Rastreamento , Cuidado Pós-Natal , Cuidado Pré-Concepcional , Gravidez , Gravidez em Diabéticas/diagnóstico , Cuidado Pré-Natal , Diagnóstico Pré-Natal , Sociedades MédicasRESUMO
BACKGROUND: Telehealth (TH) was introduced as a promising tool to support integrated care for the management of chronic obstructive pulmonary disease (COPD). It aims at improving self-management and providing remote support for continuous disease management. However, it is often not clear how TH-supported services fit into existing pathways for COPD management. The objective of this study is to uncover where TH can successfully contribute to providing care for COPD patients exemplified in a Greek care pathway. The secondary objective is to identify what conditions need to be considered for successful implementation of TH services. METHODS: Building on a single case study, we used a two-phase approach to identify areas in a Greek COPD care pathway where care services that are recommended in clinical guidelines are currently not implemented (challenges) and areas that are not explicitly recommended in the guidelines but that would benefit from TH services (opportunities). In phase I, we used the care delivery value chain framework to identify the divergence between the clinical guidelines and the actual practice captured by a survey with COPD healthcare professionals. In phase II, we conducted in-depth interviews with the same healthcare professionals based on the discovered divergences. The responses were analyzed with respect to identified opportunities for TH and care pathway challenges. RESULTS: Our results reveal insights in two areas. First, several areas with challenges were identified: patient education, self-management, medication adherence, physical activity, and comorbidity management. TH opportunities were perceived as offering better bi-directional communication and a tool for reassuring patients. Second, considering the identified challenges and opportunities together with other case context details a set of conditions was extracted that should be fulfilled to implement TH successfully. CONCLUSIONS: The results of this case study provide detailed insights into a care pathway for COPD in Greece. Addressing the identified challenges and opportunities in this pathway is crucial for adopting and implementing service innovations. Therefore, this study contributes to a better understanding of requirements for the successful implementation of integrated TH services in the field of COPD management. Consequently, it may encourage healthcare professionals to implement TH-supported services as part of routine COPD management.
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Prestação Integrada de Cuidados de Saúde/métodos , Pessoal de Saúde/psicologia , Doença Pulmonar Obstrutiva Crônica/terapia , Telemedicina/organização & administração , Grécia , Humanos , Entrevistas como Assunto , Equipe de Assistência ao Paciente , Pesquisa Qualitativa , AutogestãoRESUMO
In this paper we present the methodology and decisions behind an implementation of a telehealth data management framework, aiming to support integrated care services for chronic and multimorbid patients. The framework leverages an OWL ontology, built upon HL7 FHIR resources, to provide storage and representation of semantically enriched EHR data following Linked Data principles. This is presented along with the realization of the persistent storage solution and communication web services that allow the management of EHR data, ensuring the validity and integrity of the exchanged patient data as self-describing ontology instances. The framework concentrates on flexibility and reusability, which is addressed by regarding the aforementioned ontology as a single point of change. This solution has been implemented in the scope of the EU project WELCOME for managing data in a telemonitoring system for patients with COPD and co-morbidities and was also successfully deployed for the INLIFE EU project with minimal effort. The results of the two applications suggest it can be adopted and properly adapted in a series of integrated care scenarios with minimal effort.
Assuntos
Gerenciamento de Dados , Prestação Integrada de Cuidados de Saúde/organização & administração , Humanos , Armazenamento e Recuperação da Informação , Internet , Semântica , Integração de Sistemas , TelemedicinaRESUMO
BACKGROUND: Connected health (CH) technologies have resulted in a paradigm shift, moving health care steadily toward a more patient-centered delivery approach. CH requires a broad range of disciplinary expertise from across the spectrum to work in a cohesive and productive way. Building this interdisciplinary relationship at an earlier stage of career development may nurture and accelerate the CH developments and innovations required for future health care. OBJECTIVE: This study aimed to explore the perceptions of interdisciplinary CH researchers regarding the design and delivery of an interdisciplinary education (IDE) module for disciplines currently engaged in CH research (engineers, computer scientists, health care practitioners, and policy makers). This study also investigated whether this module should be delivered as a taught component of an undergraduate, master's, or doctoral program to facilitate the development of interdisciplinary learning. METHODS: A qualitative, cross-institutional, multistage research approach was adopted, which involved a background study of fundamental concepts, individual interviews with CH researchers in Greece (n=9), and two structured group feedback sessions with CH researchers in Ireland (n=10/16). Thematic analysis was used to identify the themes emerging from the interviews and structured group feedback sessions. RESULTS: A total of two sets of findings emerged from the data. In the first instance, challenges to interdisciplinary work were identified, including communication challenges, divergent awareness of state-of-the-art CH technologies across disciplines, and cultural resistance to interdisciplinarity. The second set of findings were related to the design for interdisciplinarity. In this regard, the need to link research and education with real-world practice emerged as a key design concern. Positioning within the program context was also considered to be important with a need to balance early intervention to embed integration with later repeat interventions that maximize opportunities to share skills and experiences. CONCLUSIONS: The authors raise and address challenges to interdisciplinary program design for CH based on an abductive approach combining interdisciplinary and interprofessional education literature and the collection of qualitative data. This recipe approach for interdisciplinary design offers guidelines for policy makers, educators, and innovators in the CH space. Gaining insight from CH researchers regarding the development of an IDE module has offered the designers a novel insight regarding the curriculum, timing, delivery, and potential challenges that may be encountered.
Assuntos
Educação/métodos , Estudos Interdisciplinares/tendências , Idoso , Europa (Continente) , Feminino , Humanos , Masculino , Pesquisa QualitativaRESUMO
BACKGROUND: Wearable sensing and information and communication technologies are key enablers driving the transformation of health care delivery toward a new model of connected health (CH) care. The advances in wearable technologies in the last decade are evidenced in a plethora of original articles, patent documentation, and focused systematic reviews. Although technological innovations continuously respond to emerging challenges and technology availability further supports the evolution of CH solutions, the widespread adoption of wearables remains hindered. OBJECTIVE: This study aimed to scope the scientific literature in the field of pervasive wearable health monitoring in the time interval from January 2010 to February 2019 with respect to four important pillars: technology, safety and security, prescriptive insight, and user-related concerns. The purpose of this study was multifold: identification of (1) trends and milestones that have driven research in wearable technology in the last decade, (2) concerns and barriers from technology and user perspective, and (3) trends in the research literature addressing these issues. METHODS: This study followed the scoping review methodology to identify and process the available literature. As the scope surpasses the possibilities of manual search, we relied on the natural language processing tool kit to ensure an efficient and exhaustive search of the literature corpus in three large digital libraries: Institute of Electrical and Electronics Engineers, PubMed, and Springer. The search was based on the keywords and properties to be found in articles using the search engines of the digital libraries. RESULTS: The annual number of publications in all segments of research on wearable technology shows an increasing trend from 2010 to February 2019. The technology-related topics dominated in the number of contributions, followed by research on information delivery, safety, and security, whereas user-related concerns were the topic least addressed. The literature corpus evidences milestones in sensor technology (miniaturization and placement), communication architectures and fifth generation (5G) cellular network technology, data analytics, and evolution of cloud and edge computing architectures. The research lag in battery technology makes energy efficiency a relevant consideration in the design of both sensors and network architectures with computational offloading. The most addressed user-related concerns were (technology) acceptance and privacy, whereas research gaps indicate that more efforts should be invested into formalizing clear use cases with timely and valuable feedback and prescriptive recommendations. CONCLUSIONS: This study confirms that applications of wearable technology in the CH domain are becoming mature and established as a scientific domain. The current research should bring progress to sustainable delivery of valuable recommendations, enforcement of privacy by design, energy-efficient pervasive sensing, seamless monitoring, and low-latency 5G communications. To complement technology achievements, future work involving all stakeholders providing research evidence on improved care pathways and cost-effectiveness of the CH model is needed.
Assuntos
Tecnologia de Sensoriamento Remoto/métodos , Telemedicina/normas , Dispositivos Eletrônicos Vestíveis/normas , Humanos , TecnologiaRESUMO
BACKGROUND: Connected health (CH), as a new paradigm, manages individual and community health in a holistic manner by leveraging a variety of technologies and has the potential for the incorporation of telehealth and integrated care services, covering the whole spectrum of health-related services addressing healthy subjects and chronic patients. The reorganization of services around the person or citizen has been expected to bring high impact in the health care domain. There are a series of concerns (eg, contextual factors influencing the impact of care models, the cost savings associated with CH solutions, and the sustainability of the CH ecosystem) that should be better addressed for CH technologies to reach stakeholders more successfully. Overall, there is a need to effectively establish an understanding of the concepts of CH impact. As services based on CH technologies go beyond standard clinical interventions and assessments of medical devices or medical treatments, the need for standardization and for new ways of measurements and assessments emerges when studying CH impact. OBJECTIVE: This study aimed to introduce the CH impact framework (CHIF) that serves as an approach to assess the impact of CH services. METHODS: This study focused on the subset of CH comprising services that directly address patients and citizens on the management of disease or health and wellness. The CHIF was developed through a multistep procedure and various activities. These included, as initial steps, a literature review and workshop focusing on knowledge elicitation around CH concepts. Then followed the development of the initial version of the framework, refining of the framework with the experts as a result of the second workshop, and, finally, composition and deployment of a questionnaire for preliminary feedback from early-stage researchers in the relevant domains. RESULTS: The framework contributes to a better understanding of what is CH impact and analyzes the factors toward achieving it. CHIF elaborates on how to assess impact in CH services. These aspects can contribute to an impact-aware design of CH services. It can also contribute to a comparison of CH services and further knowledge of the domain. The CHIF is based on 4 concepts, including CH system and service outline, CH system end users, CH outcomes, and factors toward achieving CH impact. The framework is visualized as an ontological model. CONCLUSIONS: The CHIF is an initial step toward identifying methodologies to objectively measure CH impact while recognizing its multiple dimensions and scales.
Assuntos
Prestação Integrada de Cuidados de Saúde , Modelos Organizacionais , Telemedicina , Europa (Continente) , HumanosRESUMO
BACKGROUND: This study examines the development of the connected health (CH) research landscape with a view to providing an overview of the existing CH research. The research field of CH has experienced rapid growth coinciding with increasing pressure on health care systems to become more proactive and patient centered. OBJECTIVE: This study aimed to assess the extent and coverage of the current body of knowledge in CH. In doing so, we sought to identify specific topics that have drawn the attention of CH researchers and to identify research gaps, in particular those offering opportunities for further interdisciplinary research. METHODS: A systematic mapping study that combined scientific contributions from research in the disciplines of medicine, business, computer science, and engineering was used. Overall, seven classification criteria were used to analyze the papers, including publication source, publication year, research type, empirical type, contribution type, research topic, and the medical condition studied. RESULTS: The search resulted in 208 papers that were analyzed by a multidisciplinary group of researchers. The results indicated a slow start for CH research but showed a more recent steady upswing since 2013. The majority of papers proposed health care solutions (77/208, 37.0%) or evaluated CH approaches (49/208, 23.5%). Case studies (59/208, 28.3%) and experiments (55/208, 26.4%) were the most popular forms of scientific validation used. Diabetes, cancer, multiple sclerosis, and heart conditions were among the most prevalent medical conditions studied. CONCLUSIONS: We conclude that CH research has become an established field of research that has grown over the last five years. The results of this study indicate a focus on technology-driven research with a strong contribution from medicine, whereas the business aspects of CH have received less research attention.
Assuntos
Bibliometria , Atenção à Saúde , Pesquisa sobre Serviços de Saúde , Aplicações da Informática Médica , Acesso à Informação , Sistemas de Informação em Saúde , Humanos , TelemedicinaRESUMO
BACKGROUND: Maintaining physical fitness is a crucial component of the therapeutic process for patients with cardiovascular disease (CVD). Despite the known importance of being physically active, patient adherence to exercise, both in daily life and during cardiac rehabilitation (CR), is low. Patient adherence is frequently composed of numerous determinants associated with different patient aspects (e.g., psychological, clinical, etc.). Understanding the influence of such determinants is a central component of developing personalized interventions to improve or maintain patient adherence. Medical research produced evidence regarding factors affecting patients' adherence to physical activity regimen. However, the heterogeneity of the available data is a significant challenge for knowledge reusability. Ontologies constitute one of the methods applied for efficient knowledge sharing and reuse. In this paper, we are proposing an ontology called OPTImAL, focusing on CVD patient adherence to physical activity and exercise training. METHODS: OPTImAL was developed following the Ontology Development 101 methodology and refined based on the NeOn framework. First, we defined the ontology specification (i.e., purpose, scope, target users, etc.). Then, we elicited domain knowledge based on the published studies. Further, the model was conceptualized, formalized and implemented, while the developed ontology was validated for its consistency. An independent cardiologist and three CR trainers evaluated the ontology for its appropriateness and usefulness. RESULTS: We developed a formal model that includes 142 classes, ten object properties, and 371 individuals, that describes the relations of different factors of CVD patient profile to adherence and adherence quality, as well as the associated types and dimensions of physical activity and exercise. 2637 logical axioms were constructed to comprise the overall concepts that the ontology defines. The ontology was successfully validated for its consistency and preliminary evaluated for its appropriateness and usefulness in medical practice. CONCLUSIONS: OPTImAL describes relations of 320 factors originated from 60 multidimensional aspects (e.g., social, clinical, psychological, etc.) affecting CVD patient adherence to physical activity and exercise. The formal model is evidence-based and can serve as a knowledge tool in the practice of cardiac rehabilitation experts, supporting the process of activity regimen recommendation for better patient adherence.
Assuntos
Exercício Físico , Modelos Teóricos , Cooperação do Paciente , Reabilitação Cardíaca , Doenças Cardiovasculares , Feminino , Comportamentos Relacionados com a Saúde , Humanos , MasculinoRESUMO
BACKGROUND: The study of the huge diversity of immune receptors, often referred to as immune repertoire profiling, is a prerequisite for diagnosis, prognostication and monitoring of hematological disorders. In the era of high-throughput sequencing (HTS), the abundance of immunogenetic data has revealed unprecedented opportunities for the thorough profiling of T-cell receptors (TR) and B-cell receptors (BcR). However, the volume of the data to be analyzed mandates for efficient and ease-to-use immune repertoire profiling software applications. RESULTS: This work introduces Immune Repertoire Profiler (IRProfiler), a novel software pipeline that delivers a number of core receptor repertoire quantification and comparison functionalities on high-throughput TR and BcR sequencing data. Adopting 5 alternative clonotype definitions, IRProfiler implements a series of algorithms for 1) data filtering, 2) calculation of clonotype diversity and expression, 3) calculation of gene usage for the V and J subgroups, 4) detection of shared and exclusive clonotypes among multiple repertoires, and 5) comparison of gene usage for V and J subgroups among multiple repertoires. IRProfiler has been implemented as a toolbox of the Galaxy bioinformatics platform, comprising 6 tools. Theoretical and experimental evaluation has shown that the tools of IRProfiler are able to scale well with respect to the size of input dataset(s). IRProfiler has been utilized by a number of recently published studies concerning hematological disorders. CONCLUSION: IRProfiler is made freely available via 3 distribution channels, including the Galaxy Tool Shed. Despite being a new entry in a crowded ecosystem of immune repertoire profiling software, IRProfiler founds its added value on its support for alternative clonotype definitions in conjunction with a combination of properties stemming from its user-centric design, namely ease-of-use, ease-of-access, exploitability of the output data, and analysis flexibility.
Assuntos
Receptores de Antígenos de Linfócitos B/genética , Receptores de Antígenos de Linfócitos T/genética , Software , Algoritmos , Doenças Hematológicas/diagnóstico , Doenças Hematológicas/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Receptores de Antígenos de Linfócitos B/imunologia , Receptores de Antígenos de Linfócitos T/imunologia , Análise de Sequência de DNARESUMO
OBJECTIVE: The objective of this study is to investigate the alterations caused by smoking on the features of fetal heart rate (FHR) tracings as well as to make a comparison between pregnant smokers and pregnant women with intrauterine growth restriction (IUGR). STUDY DESIGN: A number of established features derived from linear and nonlinear fields were employed to study the possible influence of maternal smoking on FHR tracings. Moreover, correlation and measures of complexity of the FHR were explored, in order to get closer to the core of information that the signal of FHR tracings conveys. Data included FHR tracings from 61 uncomplicated singleton pregnancies, 16 pregnant smoker cases, and 15 pregnancies of women with IUGR. RESULTS: The analysis of FHR indicated that some parameters, such as mutual information (P=0.0025), multiscale entropy (P=0.01), and algorithmic complexity (P=0.024) appeared decreased in the group of pregnant smokers, while kurtosis (P=0.0011) increased. The comparison between pregnant smokers and pregnant women with IUGR indicated a reduction in Hjorth complexity (P=0.039) for the former. CONCLUSION: Smoking during pregnancy seems to induce differences in several linear and nonlinear indices in recordings of FHR tracings. This may be the consequence of an altered neurodevelopmental maturation possibly resulting from chronic fetal hypoxemia in cigarette-exposed fetuses.
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Frequência Cardíaca Fetal , Fumar/efeitos adversos , Adulto , Estudos de Casos e Controles , Feminino , Retardo do Crescimento Fetal/fisiopatologia , Humanos , Gravidez , Adulto JovemRESUMO
BACKGROUND: Somatic Hypermutation (SHM) refers to the introduction of mutations within rearranged V(D)J genes, a process that increases the diversity of Immunoglobulins (IGs). The analysis of SHM has offered critical insight into the physiology and pathology of B cells, leading to strong prognostication markers for clinical outcome in chronic lymphocytic leukaemia (CLL), the most frequent adult B-cell malignancy. In this paper we present a methodology for integrating multiple immunogenetic and clinocobiological data sources in order to extract features and create high quality datasets for SHM analysis in IG receptors of CLL patients. This dataset is used as the basis for a higher level integration procedure, inspired form social choice theory. This is applied in the Towards Analysis, our attempt to investigate the potential ontogenetic transformation of genes belonging to specific stereotyped CLL subsets towards other genes or gene families, through SHM. RESULTS: The data integration process, followed by feature extraction, resulted in the generation of a dataset containing information about mutations occurring through SHM. The Towards analysis performed on the integrated dataset applying voting techniques, revealed the distinct behaviour of subset #201 compared to other subsets, as regards SHM related movements among gene clans, both in allele-conserved and non-conserved gene areas. With respect to movement between genes, a high percentage movement towards pseudo genes was found in all CLL subsets. CONCLUSIONS: This data integration and feature extraction process can set the basis for exploratory analysis or a fully automated computational data mining approach on many as yet unanswered, clinically relevant biological questions.
Assuntos
Imunogenética/métodos , Leucemia Linfocítica Crônica de Células B/genética , Hipermutação Somática de Imunoglobulina/genética , Adulto , Bases de Dados Genéticas , Feminino , Mutação em Linhagem Germinativa , Humanos , Região Variável de Imunoglobulina/genética , Imunoglobulinas/genética , Leucemia Linfocítica Crônica de Células B/patologiaRESUMO
Νext generation sequencing studies in Homo sapiens have identified novel immunoglobulin heavy variable (IGHV) genes and alleles necessitating changes in the international ImMunoGeneTics information system (IMGT) GENE-DB and reference directories of IMGT/V-QUEST. In chronic lymphocytic leukaemia (CLL), the somatic hypermutation (SHM) status of the clonotypic rearranged IGHV gene is strongly associated with patient outcome. Correct determination of this parameter strictly depends on the comparison of the nucleotide sequence of the clonotypic rearranged IGHV gene with that of the closest germline counterpart. Consequently, changes in the reference directories could, in principle, affect the correct interpretation of the IGHV mutational status in CLL. To this end, we analyzed 8066 productive IG heavy chain (IGH) rearrangement sequences from our consortium both before and after the latest update of the IMGT/V-QUEST reference directory. Differences were identified in 405 cases (5 % of the cohort). In 291/405 sequences (71.9 %), changes concerned only the IGHV gene or allele name, whereas a change in the percent germline identity (%GI) was noted in 114/405 (28.1 %) sequences; in 50/114 (43.8 %) sequences, changes in the %GI led to a change in the mutational set. In conclusion, recent changes in the IMGT reference directories affected the interpretation of SHM in a sizeable number of IGH rearrangement sequences from CLL patients. This indicates that both physicians and researchers should consider a re-evaluation of IG sequence data, especially for those IGH rearrangement sequences that, up to date, have a GI close to 98 %, where caution is warranted.
Assuntos
Regiões Determinantes de Complementaridade/genética , Leucemia Linfocítica Crônica de Células B/genética , Leucemia Linfocítica Crônica de Células B/imunologia , Prognóstico , Alelos , Sequência de Aminoácidos/genética , Humanos , Leucemia Linfocítica Crônica de Células B/patologia , Mutação , Alinhamento de SequênciaRESUMO
AIMS: Hypertension is a major risk factor for atrial fibrillation (AF); however, reliable non-invasive tools to assess AF risk in hypertensive patients are lacking. We sought to evaluate the efficacy of P wave wavelet analysis in predicting AF risk recurrence in a hypertensive cohort. METHODS: We studied 37 hypertensive patients who presented with an AF episode for the first time and 37 age- and sex-matched hypertensive controls without AF. P wave duration and energy variables were measured for each subject [i.e. mean and max P wave energy along horizontal (x), coronal (y) and sagittal (z) axes in low, intermediate and high frequency bands]. AF-free survival was assessed over a follow-up of 12.1±0.4months. RESULTS: P wave duration (Pdurz) and mean P wave energy in the intermediate frequency band across sagittal axis (mean2z) were independently associated with baseline AF status (p=0.008 and p=0.001, respectively). Based on optimal cut-off points, four groups were formed: Pdurz<83.2ms/mean2z<6.2µV(2) (n=23), Pdurz<83.2ms/mean2z≥6.2µV(2) (n=10), Pdurz≥83.2ms/mean2z<6.2µV(2) (n=22) and Pdurz≥83.2ms/mean2z≥6.2µV(2) (n=19). AF-free survival decreased (Log Rank p<0.0001) from low risk (Pdurz<83.2ms/mean2z<6.2µV(2)) to high-risk group (Pdurz≥83.2ms/mean2z≥6.2µV(2)). Patients presenting with longer and higher energy P waves were at 18 times higher AF risk compared to those with neither (OR: 17.6, 95% CI: 3.7-84.3) even after adjustment for age, sex, hypertension duration, left atrial size, beta-blocker, ACEi/ARBs and statin therapy. CONCLUSIONS: P wave temporal and energy characteristics extracted using wavelet analysis can potentially serve as screening tool to identify hypertensive patients at risk of AF recurrence.
Assuntos
Fibrilação Atrial/diagnóstico , Fibrilação Atrial/epidemiologia , Eletrocardiografia/métodos , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Análise de Ondaletas , Estudos de Casos e Controles , Causalidade , Comorbidade , Diagnóstico por Computador/métodos , Diagnóstico por Computador/estatística & dados numéricos , Intervalo Livre de Doença , Eletrocardiografia/estatística & dados numéricos , Feminino , Grécia/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recidiva , Reprodutibilidade dos Testes , Medição de Risco/métodos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Wider QRS and left bundle branch block morphology are related to response to cardiac resynchronization therapy (CRT). A novel time-frequency analysis of the QRS complex may provide additional information in predicting response to CRT. METHODS: Signal-averaged electrocardiograms were prospectively recorded, before CRT, in orthogonal leads and QRS decomposition in three frequency bands was performed using the Morlet wavelet transformation. RESULTS: Thirty eight patients (age 65±10years, 31 males) were studied. CRT responders (n=28) had wider baseline QRS compared to non-responders and lower QRS energies in all frequency bands. The combination of QRS duration and mean energy in the high frequency band had the best predicting ability (AUC 0.833, 95%CI 0.705-0.962, p=0.002) followed by the maximum energy in the high frequency band (AUC 0.811, 95%CI 0.663-0.960, p=0.004). CONCLUSIONS: Wavelet transformation of the QRS complex is useful in predicting response to CRT.
Assuntos
Algoritmos , Terapia de Ressincronização Cardíaca/métodos , Diagnóstico por Computador/métodos , Eletrocardiografia/métodos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/prevenção & controle , Análise de Ondaletas , Idoso , Feminino , Humanos , Masculino , Projetos Piloto , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Resultado do TratamentoRESUMO
The P wave, representing the electrical fingerprint of atrial depolarization, contains information regarding spatial and temporal aspects of atrial electrical-and potentially structural-properties. However, technical and biological reasons, including-but not limited to-the low amplitude of the P wave and large interindividual variations in normal or pathologic atrial electrical activity, make gathering and utilizing this information for clinical purposes a rather cumbersome task. However, even crude ECG descriptors, such as P-wave dispersion, have been shown to be of predictive value for assessing the probability that a patient already has or will shortly present with AF. More sophisticated methods of analyzing the ECG signal, on a single- or multi- beat basis, along with novel approaches to data handling, namely machine learning, seem to be leading up to more accurate and robust ways to obtain clinically useful information from the humble P wave.
Assuntos
Fibrilação Atrial , Humanos , Fibrilação Atrial/diagnóstico , Eletrocardiografia , Átrios do Coração , Valor Preditivo dos TestesRESUMO
OBJECTIVES: The management of blood pressure (BP) and the role of antihypertensive medications (AHT) in acute ischemic stroke (AIS) remain uncertain. This study aimed to investigate the impact of pre- and intra-stroke AHT use on systolic (SBP), diastolic (DBP), and blood pressure variability (BPV). MATERIALS AND METHODS: A post-hoc analysis was conducted on 228 AIS patients from the PREVISE study. All patients underwent 24-hour ambulatory blood pressure monitoring within 48 h of symptom onset. Clinical and laboratory data, as well as AHT details, were recorded. Mean BP parameters and BPV for SBP and DBP were computed. The study endpoint was 3-month mortality. RESULTS: The majority of stroke patients (84.2%) were already taking AHTs. Beta blockers and ACE inhibitors use before and after stroke were linked to higher DBP variability. Prior angiotensin receptor blockers (ARBs) and vasodilators use correlated with increased SBP variability and lower daytime SBP/DBP levels, respectively. The continuation, discontinuation, or change of AHTs after stroke onset did not significantly affect outcomes. Patients under AHTs during AIS exhibited reduced mortality, with those previously using calcium channel blockers experiencing less severe strokes, and those previously using ARBs showing better outcomes at three months. CONCLUSIONS: These findings advocate for personalized BP management in AIS, based on a patient's antihypertensive history. These insights could enhance treatment efficacy, guide research, and improve care for acute ischemic stroke patients.
Assuntos
Anti-Hipertensivos , Pressão Sanguínea , AVC Isquêmico , Humanos , Masculino , Feminino , AVC Isquêmico/tratamento farmacológico , AVC Isquêmico/mortalidade , AVC Isquêmico/fisiopatologia , Anti-Hipertensivos/uso terapêutico , Idoso , Pressão Sanguínea/efeitos dos fármacos , Pressão Sanguínea/fisiologia , Pessoa de Meia-Idade , Hipertensão/tratamento farmacológico , Hipertensão/fisiopatologia , Resultado do Tratamento , Monitorização Ambulatorial da Pressão Arterial/métodos , Índice de Gravidade de Doença , Idoso de 80 Anos ou maisRESUMO
BACKGROUND: Left atrial (LA) fibrosis has been shown to be associated with atrial fibrillation (AF) recurrence. Beat-to-beat (B2B) index is a non-invasive classifier, based on B2B P-wave morphological and wavelet analysis, shown to be associated with AF incidence and recurrence. In this study, we tested the hypothesis that the B2B index is associated with the extent of LA low-voltage areas (LVAs) on electroanatomical mapping. METHODS: Patients with paroxysmal AF scheduled for pulmonary vein isolation, without evident structural remodeling, were included. Pre-ablation electroanatomical voltage maps were used to calculate the surface of LVAs (<0.5 mV). B2B index was compared between patients with small versus large LVAs. RESULTS: 35 patients were included (87% male, median age 62). The median surface area of LVAs was 7.7 (4.4-15.8) cm2 corresponding to 5.6 (3.3-12.1) % of LA endocardial surface. B2B index was 0.57 (0.52-0.59) in patients with small LVAs (below the median) compared to 0.65 (0.56-0.77) in those with large LVAs (above the median) (p = 0.009). In the receiver operator characteristic curve analysis for predicting large LVAs, the c-statistic was 0.75 (p = 0.006) for B2B index and 0.81 for the multivariable model including B2B index (multivariable p = 0.04) and P-wave duration. CONCLUSION: In patients with paroxysmal AF without overt atrial myopathy, B2B P-wave analysis appears to be a useful non-invasive correlate of low-voltage areas-and thus fibrosis-in the LA. This finding establishes a pathophysiological basis for B2B index and its potential usefulness in the selection process of patients who are likely to benefit most from further invasive treatment.