Personalized approach

  • 文章类型: Journal Article
    生活简单7分(LS7)促进心血管健康(CVH)。尽管如此,一些具有最佳LS7的人发展为心血管疾病(CVD),而其他CVH较差的人则没有,被称为“CVH悖论”。“本文探讨了解释这一悖论的途径。
    我们研究了方法学方面:1)自我报告的生活方式因素(吸烟,身体活动,饮食);2)终生累积暴露于危险因素,影响了CVH悖论。准时的风险因素评估对于预测结果是次优的。我们提出了个性化预防使用“新”元素来完善CVH评估:1)亚临床血管疾病标志物,2)血液和尿液中的代谢生物标志物,3)新兴风险因素,4)多基因风险评分(PRS),5)表观遗传学,和6)曝光。
    解决CVH悖论需要多方面的方法,减少误分类偏差,考虑到累积风险敞口,并结合了新颖的个性化预防元素。
    整体,CVH评估和CVD预防的个体化方法可以更好地降低心血管结局并改善人群健康.研究人员之间的合作,医疗保健提供者,政策制定者,和社区对于有效实施和实现这些战略至关重要。
    UNASSIGNED: The Life\'s Simple 7 score (LS7) promotes cardiovascular health (CVH). Despite this, some with optimal LS7 develop cardiovascular disease (CVD), while others with poor CVH do not, termed the \"CVH paradox.\" This paper explores pathways explaining this paradox.
    UNASSIGNED: We examined methodological aspects: 1) misclassification bias in self-reported lifestyle factors (smoking, physical activity, diet); 2) cumulative exposure to risk factors over a lifetime, impacting the CVH paradox. Punctual risk factor assessments are suboptimal for predicting outcomes. We proposed personalized prevention using \"novel\" elements to refine CVH assessment: 1) subclinical vascular disease markers, 2) metabolic biomarkers in blood and urine, 3) emerging risk factors, 4) polygenic risk scores (PRS), 5) epigenetics, and 6) the exposome.
    UNASSIGNED: Addressing the CVH paradox requires a multifaceted approach, reducing misclassification bias, considering cumulative risk exposure, and incorporating novel personalized prevention elements.
    UNASSIGNED: A holistic, individualized approach to CVH assessment and CVD prevention can better reduce cardiovascular outcomes and improve population health. Collaboration among researchers, healthcare providers, policymakers, and communities is essential for effective implementation and realization of these strategies.
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  • 文章类型: Journal Article
    不断上升的肥胖流行需要有效和可持续的减肥干预策略,同时考虑个人偏好和环境影响。这项研究旨在开发和评估一种创新的数字生物黑客方法在促进可持续减肥和减少碳足迹影响方面的效果。进行了一项试点研究,涉及四名监测体重的参与者,饮食,和一年的活动。食品消费数据,碳足迹影响,卡路里摄入量,大量营养素组成,体重,并收集了能量消耗。基于营养信息的新陈代谢的数字复制品,个性化代谢头像(PMA),用来模拟体重变化,plan,并执行数字生物黑客方法来进行饮食干预。数字生物黑客方法建议的饮食调整导致每位参与者的平均每日卡路里减少236.78kcal(14.24%),碳足迹影响减少15.12%(-736.48gCO2eq)。使用PMA的数字生物黑客模拟显示,与实际记录的数据相比,体重变化存在显着差异。表明数字生物黑客饮食有效减轻体重。此外,对真实数据的线性回归分析显示,坚持建议饮食与体重减轻之间存在显着相关性。总之,数字生物黑客建议提供了一种个性化和可持续的减肥方法,同时减少卡路里摄入量并最大程度地减少碳足迹影响。这种方法在考虑个人偏好和环境可持续性的同时,在对抗肥胖方面显示出希望。
    The rising obesity epidemic requires effective and sustainable weight loss intervention strategies that take into account both of individual preferences and environmental impact. This study aims to develop and evaluate the effectiveness of an innovative digital biohacking approach for dietary modifications in promoting sustainable weight loss and reducing carbon footprint impact. A pilot study was conducted involving four participants who monitored their weight, diet, and activities over the course of a year. Data on food consumption, carbon footprint impact, calorie intake, macronutrient composition, weight, and energy expenditure were collected. A digital replica of the metabolism based on nutritional information, the Personalized Metabolic Avatar (PMA), was used to simulate weight changes, plan, and execute the digital biohacking approach to dietary interventions. The dietary modifications suggested by the digital biohacking approach resulted in an average daily calorie reduction of 236.78 kcal (14.24%) and a 15.12% reduction in carbon footprint impact (-736.48 gCO2eq) per participant. Digital biohacking simulations using PMA showed significant differences in weight change compared to actual recorded data, indicating effective weight reduction with the digital biohacking diet. Additionally, linear regression analysis on real data revealed a significant correlation between adherence to the suggested diet and weight loss. In conclusion, the digital biohacking recommendations provide a personalized and sustainable approach to weight loss, simultaneously reducing calorie intake and minimizing the carbon footprint impact. This approach shows promise in combating obesity while considering both individual preferences and environmental sustainability.
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  • 文章类型: Journal Article
    慢性阻塞性肺疾病(ECOPD)的恶化,特别是如果导致住院,增加死亡风险。我们的范围审查旨在确定短期和长期更新的死亡风险因素。
    全面搜索,本研究涵盖2013年1月至2024年2月这段时间,目的是确定考虑ECOPD住院患者死亡相关因素的符合条件的研究.我们考虑了短期死亡率,长达一年(包括住院死亡率,IHM)和一年以上的长期死亡率,没有时间限制。我们排除了有关重症监护领域的研究。
    我们考虑了38项研究,32和8报告了有关短期和长期死亡率的数据,分别。两项研究考虑了这两个时期。几个因素,有些人已经知道,其他新发现的,进行了评估和讨论。其中一些与COPD的特征和严重程度有关(年龄,身体质量指数,肺损伤),一些人考虑了对ECOPD的回应。在最后一个背景下,我们专注于生物标志物在预测患者死亡率方面的作用日益增强,尤其是IHM。我们与预后较差相关的因素可能有助于在临床实践中识别有风险的患者,随后,确定个性化的方法。
    UNASSIGNED: The Exacerbation of Chronic Obstructive Pulmonary Disease (ECOPD), especially if leading to hospitalization, increases the risk of death. Our scoping review aims to identify updated mortality risk factors for both short- and long-term periods.
    UNASSIGNED: A comprehensive search, covering the period from January 2013 to February 2024, was performed to identify eligible studies that consider factors associated with death in hospitalized ECOPD. We considered short-term mortality, up to one year (including in-hospital mortality, IHM) and long-term mortality over one year, without time limits. We excluded studies concerning the intensive care area.
    UNASSIGNED: We considered 38 studies, 32 and 8 reporting data about short- and long-term mortality, respectively. Two studies consider both periods. Several factors, some already known, others newly identified, have been evaluated and discussed. Some of these were related to the characteristics and severity of COPD (age, body mass index, lung impairment), and some considered the response to ECOPD. In this last context, we focused on the increasing role of biomarkers in predicting the mortality of patients, particularly IHM. Our factors associated with a worse prognosis may be helpful in clinical practice to identify patients at risk and, subsequently, determine a personalized approach.
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  • 文章类型: Journal Article
    精神药品使用的安全性,广泛用于神经和精神病学实践,是个性化医疗中一个亟待解决的问题。这篇叙述性综述表明,不同种族/种族的肝脏中编码丙戊酸P氧化关键同工酶的基因中,低功能和非功能单核苷酸变体的等位基因频率存在差异。通过优先考虑特定人群(国家)最常见的风险等位基因特征,可以提高药物遗传学测试小组预测P-氧化丙戊酸代谢率的敏感性和特异性。
    The safety of the use of psychotropic drugs, widely used in neurological and psychiatric practice, is an urgent problem in personalized medicine. This narrative review demonstrated the variability in allelic frequencies of low-functioning and non-functional single nucleotide variants in genes encoding key isoenzymes of valproic acid P-oxidation in the liver across different ethnic/racial groups. The sensitivity and specificity of pharmacogenetic testing panels for predicting the rate of metabolism of valproic acid by P-oxidation can be increased by prioritizing the inclusion of the most common risk allele characteristic of a particular population (country).
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  • 文章类型: Journal Article
    马凡氏综合征(MIM:#154700;MFS)是代表遗传性结缔组织疾病的最常见形式的常染色体显性疾病。该条件呈现可变的多器官表达,通常涉及心血管三合会,眼睛,和骨骼表现。其他多系统特征通常未被诊断。此外,这种疾病的特征是与年龄有关的外显率。成人MFS的诊断和管理在文献中有很好的描述。很少有研究关注儿科人群的MFS,使这些病例的临床方法(心脏和多器官)在诊断和连续随访方面都具有挑战性。在这次审查中,我们提供了儿童MFS表现的概述,主要器官受累(心血管眼和骨骼)的广泛修订。我们试图阐明MFS的次要方面,这些方面可能对受影响儿童的健康产生重大的渐进影响。MFS是一种综合症的例子,在这种综合症中,早期的个性化方法可以解决动态的问题,遗传决定的条件可以对结果产生影响。对MFS病例应用早期多学科临床方法可预防急慢性并发症,提供量身定制的管理,提高患者的生活质量。
    Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.
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  • 文章类型: Journal Article
    数学模型在研究复杂的生物系统中起着至关重要的作用,能够全面了解各个组成部分之间的相互作用,并促进干预策略的计算机模拟测试。阿尔茨海默病(AD)的特点是多因素的原因和复杂的生物实体之间的相互作用,由于缺乏有效的治疗方法,因此需要个性化的方法。因此,数学模型有望成为抗击AD不可或缺的工具。然而,这个新兴领域的现有模型通常会受到局限性的影响,例如验证不足或对单个蛋白质或途径的关注范围狭窄。
    在本文中,我们提出了一个多尺度数学模型,通过19个常微分方程组描述了AD的发展。这些方程式描述了蛋白质的进化(纳米级),细胞群(微型),和器官水平的结构(宏观尺度)超过50年的寿命,因为它们与淀粉样蛋白和tau积累有关,炎症,和神经元死亡。
    区分我们的模型是生物学原理的坚实基础,确保对包含的方程进行改进的证明,以及从已发表的实验文献中得出的严格的参数证明。
    该模型代表了构建预测框架的重要第一步,这对于识别对抗AD的有效治疗靶标具有重要的潜力。
    UNASSIGNED: Mathematical models play a crucial role in investigating complex biological systems, enabling a comprehensive understanding of interactions among various components and facilitating in silico testing of intervention strategies. Alzheimer\'s disease (AD) is characterized by multifactorial causes and intricate interactions among biological entities, necessitating a personalized approach due to the lack of effective treatments. Therefore, mathematical models offer promise as indispensable tools in combating AD. However, existing models in this emerging field often suffer from limitations such as inadequate validation or a narrow focus on single proteins or pathways.
    UNASSIGNED: In this paper, we present a multiscale mathematical model that describes the progression of AD through a system of 19 ordinary differential equations. The equations describe the evolution of proteins (nanoscale), cell populations (microscale), and organ-level structures (macroscale) over a 50-year lifespan, as they relate to amyloid and tau accumulation, inflammation, and neuronal death.
    UNASSIGNED: Distinguishing our model is a robust foundation in biological principles, ensuring improved justification for the included equations, and rigorous parameter justification derived from published experimental literature.
    UNASSIGNED: This model represents an essential initial step toward constructing a predictive framework, which holds significant potential for identifying effective therapeutic targets in the fight against AD.
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  • 文章类型: Journal Article
    背景:癌症生物标志物通过提供对肿瘤变化的有价值的见解并帮助筛查,彻底改变了肿瘤学领域。诊断,预后,治疗预测,和风险评估。“组学”技术的出现使生物标志物成为癌症治疗期间结果的可靠和准确的预测因子。
    背景:在这篇综述中,我们强调了生物标志物在癌症鉴定中的临床应用,并激励研究人员在肿瘤学中建立个性化/精确的方法.通过扩展基于多学科技术的方法,生物标志物提供了传统技术的替代方案,实现癌症治疗的目标是在大海捞针。
    我们针对不同形式的癌症,以建立生物标志物在了解恶性肿瘤及其生化和分子特征方面的动态作用,强调他们对癌症筛查的前瞻性贡献。生物标志物为早期发现人类癌症和探索预测疾病严重程度的新技术提供了有希望的途径。促进最高生存率和最低死亡率。这篇综述全面概述了生物标志物在肿瘤学中的潜力,并强调了它们在推进癌症诊断和治疗方面的前景。
    BACKGROUND: Cancer biomarkers have revolutionized the field of oncology by providing valuable insights into tumor changes and aiding in screening, diagnosis, prognosis, treatment prediction, and risk assessment. The emergence of \"omic\" technologies has enabled biomarkers to become reliable and accurate predictors of outcomes during cancer treatment.
    BACKGROUND: In this review, we highlight the clinical utility of biomarkers in cancer identification and motivate researchers to establish a personalized/precision approach in oncology. By extending a multidisciplinary technology-based approach, biomarkers offer an alternative to traditional techniques, fulfilling the goal of cancer therapeutics to find a needle in a haystack.
    UNASSIGNED: We target different forms of cancer to establish a dynamic role of biomarkers in understanding the spectrum of malignancies and their biochemical and molecular characterization, emphasizing their prospective contribution to cancer screening. Biomarkers offer a promising avenue for the early detection of human cancers and the exploration of novel technologies to predict disease severity, facilitating maximum survival and minimum mortality rates. This review provides a comprehensive overview of the potential of biomarkers in oncology and highlights their prospects in advancing cancer diagnosis and treatment.
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  • 文章类型: Journal Article
    鉴于其多基因性质,有必要对精神分裂症的个性化方法。这项研究的目的是从血液中选择实验室生物标志物,脑成像,和临床评估,重点是患者自我报告问卷。51例患者和45例健康志愿者血清样本的代谢组学研究,基于液相色谱-电喷雾电离质谱(LC-ESI-MS/MS),导致3个生化指标(皮质醇,谷氨酸,精神分裂症的乳酸)。这些代谢物与实验室测试结果依次相关,成像结果,和临床评估结果,包括患者自我报告结果。对主成分(HCPC)进行层次聚类分析,以确定最均匀的临床组。血液乳酸盐与11个临床和10个神经影像学参数之间存在显着相关性。乳酸和皮质醇的增加与免疫学参数的降低显着相关,尤其是反应性淋巴细胞的水平。脑谷氨酸与血乳酸和皮质醇水平的相关性最强,N-乙酰天冬氨酸和谷氨酸和谷氨酰胺的浓度,前额叶皮质中的肌酸和磷酸肌酸。代谢组学研究以及与大脑参数和自我报告结果相关的搜索可能为特定精神分裂症表型提供新的诊断证据。
    Given its polygenic nature, there is a need for a personalized approach to schizophrenia. The aim of the study was to select laboratory biomarkers from blood, brain imaging, and clinical assessment, with an emphasis on patients\' self-report questionnaires. Metabolomics studies of serum samples from 51 patients and 45 healthy volunteers, based on the liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS/MS), led to the identification of 3 biochemical indicators (cortisol, glutamate, lactate) of schizophrenia. These metabolites were sequentially correlated with laboratory tests results, imaging results, and clinical assessment outcomes, including patient self-report outcomes. The hierarchical cluster analysis on the principal components (HCPC) was performed to identify the most homogeneous clinical groups. Significant correlations were noted between blood lactates and 11 clinical and 10 neuroimaging parameters. The increase in lactate and cortisol were significantly associated with a decrease in immunological parameters, especially with the level of reactive lymphocytes. The strongest correlations with the level of blood lactate and cortisol were demonstrated by brain glutamate, N-acetylaspartate and the concentrations of glutamate and glutamine, creatine and phosphocreatine in the prefrontal cortex. Metabolomics studies and the search for associations with brain parameters and self-reported outcomes may provide new diagnostic evidence to specific schizophrenia phenotypes.
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  • 文章类型: Review
    Thyroid cancer (TC) is the most common malignant tumor of the endocrine glands and accounts to 3% of the total structure of oncological morbidity. Papillary thyroid cancer (PTC) is the most common histological variant of thyroid malignancies. It accounts for about 85% of all cases of thyroid cancer. Despite good postoperative results and excellent survival compared to many other malignancies, tumor metastases to the paratracheal lymph nodes are quite common. This review of the literature considers the current personalized approach to patients with papillary thyroid cancer and current aspects influencing the management of patients with PTC.
    Рак щитовидной железы (РЩЖ) является наиболее частой злокачественной опухолью эндокринных желез и составляет до 3% в общей структуре онкологической заболеваемости. Папиллярный рак щитовидной железы (ПРЩЖ) является наиболее частым гистологическим вариантом злокачественных новообразований щитовидной железы, на его долю приходится около 85% всех случаев РЩЖ. Несмотря на благоприятные послеоперационные результаты и высокую выживаемость по сравнению со многими другими злокачественными заболеваниями, метастазы опухоли в паратрахеальные лимфатические узлы встречаются довольно часто. В обзоре литературы рассмотрен современный персонализированный подход к пациентам с ПРЩЖ и аспекты, влияющие на тактику ведения.
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  • 文章类型: Case Reports
    背景:肝移植后的妊娠对患者和移植团队都构成了重大挑战。
    方法:我们介绍了一名19岁的欧洲患者,该患者在5年前因自身免疫性肝炎接受了肝移植。患者首次妊娠期间对免疫抑制治疗的依从性差和错过随访可能导致肝功能恶化。住院治疗,怀孕失败。由于患者的复杂病史,联合免疫抑制治疗,和胎儿的风险,她第二次怀孕的风险很高。然而,密切的门诊监测和对治疗的坚持导致了成功的,平安无事,足月妊娠和健康分娩。
    结论:希望怀孕的肝移植受者需要仔细的计划和管理,以确保母亲和胎儿的最佳结局。有必要采取个性化策略来平衡肝移植后分娩的潜在益处与妊娠风险。
    BACKGROUND: Pregnancy after liver transplantation poses a significant challenge to both the patient and the transplant team.
    METHODS: We present the case of a 19-year-old European patient who underwent liver transplantation 5 years previously owing to autoimmune hepatitis. Poor compliance with immunosuppressive therapy and missed follow-up visits during the patient\'s first pregnancy likely contributed to her liver function deterioration, hospitalization, and failed pregnancy. Owing to the patient\'s complex medical history, combined immunosuppressive treatment, and risks to the fetus, her second pregnancy was high risk. However, close outpatient monitoring and adherence to treatment led to a successful, uneventful, full-term pregnancy and healthy delivery.
    CONCLUSIONS: Liver transplant recipients who desire to become pregnant require careful planning and management to ensure optimal outcomes for both the mother and the fetus. A personalized strategy is necessary to balance the potential benefits of childbirth with the risks involved in pregnancy after liver transplantation.
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