Quality-of-life

生活质量
  • 文章类型: Journal Article
    目的是评估睾丸激素补充治疗相关性腺功能减退的睾丸癌幸存者的疗效和安全性。
    此系统评价是根据系统评价和荟萃分析(PRISMA)的首选报告项目标准进行的,并使用Embase,PubMed/MEDLINE,CochraneCentral,WebofScience核心合集,韩国期刊索引,SciELO,和全球指数Medicus将于2024年6月获取数据。
    包括对治疗诱导性腺功能减退的睾丸癌幸存者补充睾酮的评估分析。不评估该人群中的补充或被认为无法恢复的任何分析被排除。
    包括十个分析用于分析。总共对332名受治疗影响的性腺功能减退症的双侧或单侧睾丸癌幸存者进行了回顾。238名患者接受睾酮替代治疗。10项分析中有8项评估了没有不良生活质量(QOL)指标的参与者,代谢因素,和基线时的骨矿物质密度(BMD),仅发现补充睾酮对脂肪分布指标有显著益处。两项分析评估了基线时QOL指标或BMD较差的参与者,并显示补充睾酮后QOL或BMD的改善。
    关于睾酮替代在性腺功能减退个体中的疗效和安全性,有确凿的证据,但有限的证据专门评估在受治疗影响的性腺功能减退的睾丸癌幸存者中的补充。
    结果表明,睾酮替代可能对生活质量指标受损的患者有益,代谢因素,和BMD在基线;结果还表明,该患者群体中所有个体的常规补充缺乏疗效。
    UNASSIGNED: The objective is to evaluate the efficacy and safety of testosterone supplementation in testicular cancer survivors with treatment-related hypogonadism.
    UNASSIGNED: This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards and used Embase, PubMed/MEDLINE, Cochrane Central, Web of Science Core Collection, Korean Journal Index, SciELO, and Global Index Medicus to obtain data in June of 2024.
    UNASSIGNED: Analyses evaluating testosterone supplementation in testicular cancer survivors with treatment-induced hypogonadism were included. Any analyses not assessing supplementation in this population or deemed unretrievable were excluded.
    UNASSIGNED: Ten analyses were included for analysis. A total of 332 bilateral or unilateral testicular cancer survivors with treatment-influenced hypogonadism were reviewed, with 238 patients receiving testosterone replacement. Eight of the 10 analyses assessed participants without poor quality-of-life (QOL) metrics, metabolic factors, and bone mineral density (BMD) at baseline and only found a significant benefit in fat distribution metrics with testosterone supplementation. Two analyses evaluated participants with poor QOL metrics or BMD at baseline and showed improvements in QOL or BMD with testosterone supplementation.
    UNASSIGNED: There is robust evidence regarding the efficacy and safety of testosterone replacement in hypogonadal individuals but limited evidence specifically evaluating supplementation in testicular cancer survivors with treatment-influenced hypogonadism.
    UNASSIGNED: The results suggest testosterone replacement may be beneficial in patients with impaired QOL metrics, metabolic factors, and BMD at baseline; the results also suggest that routine supplementation for all individuals in this patient population lacks efficacy.
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  • 文章类型: Journal Article
    背景:运动是乳腺癌患者的康复策略;然而,最佳运动类型仍然不确定。本研究旨在比较5种运动类型对乳腺癌患者生活质量的影响,为乳腺癌患者的运动康复提供依据。
    方法:截至2024年5月,我们搜索了四个数据库:Embase,PubMed,WebofScience,和Cochrane图书馆,纳入随机对照试验,分析运动对乳腺癌患者生活质量的影响。使用基于频率的框架进行网络荟萃分析。
    结果:纳入了45篇论文,涉及4092名参与者。纳入的五种运动类型与对照组直接比较均有显著性,除了瑜伽和身心锻炼。有氧运动,阻力,和组合锻炼与生活质量相关。然而,在间接比较中,只有身心锻炼与抵抗运动有显著的效果.运动对乳腺癌患者生活质量(总体健康状况)的影响根据累积排序曲线(SUCRA)值和效应大小进行排序:有氧运动(SUCRA=84.1)>联合运动(SUCRA=78.8)>阻力运动(SUCRA=66.4)>瑜伽(SUCRA=39.3)>身心锻炼(CRSUA=27.2)>常规护理(4.1)。
    结论:运动可以恢复乳腺癌患者的生活质量,有氧运动可能是改善其生活质量(总体健康状况)的最佳运动类型。
    BACKGROUND: Exercise is a rehabilitation strategy for patients with breast cancer; however, the optimal type of exercise remains uncertain. This study aimed to compare the effects of five exercise types on the quality of life of patients with breast cancer and provide a basis for their exercise rehabilitation.
    METHODS: As of May 2024, we searched four databases: Embase, PubMed, Web of Science, and Cochrane Library, and included randomized controlled trials that analyzed the effect of exercise on the quality of life of patients with breast cancer. A network meta-analysis was performed using a frequency-based framework.
    RESULTS: Forty-five papers involving 4092 participants were included. The five types of exercises included were all significant in the direct comparison with the control group, except yoga and mind-body exercises. Aerobic, resistance, and combination exercises were associated with quality of life. However, in indirect comparisons, only mind-body exercise versus resistance exercise had a significant effect. The effect of exercise on the quality of life(total health status) of patients with breast cancer was ranked based on surface under the cumulative ranking curve (SUCRA) values combined with effect sizes as follows: aerobic exercise (SUCRA = 84.1) > combined exercise (SUCRA = 78.8) > resistance exercise (SUCRA = 66.4) > yoga (SUCRA = 39.3) > mind-body exercise (SUCRA = 27.2) > usual care (SUCRA = 4.1).
    CONCLUSIONS: Exercise can rehabilitate the quality of life of patients with breast cancer, and aerobic exercise may be the best type of exercise to improve their quality of life(total health status).
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  • 文章类型: Journal Article
    目的:本研究旨在通过Missoula-Vitas生活质量指数-15(MVQOLI-15)评估维持性血液透析的终末期肾病(ESRD)患者的生活质量(QoL),以确定影响其健康的因素。
    方法:在肾内科透析室进行了一项横断面研究,尼什塔尔医院木尔坦。超过六个月,140名符合条件的患者采用非概率连续抽样。使用MVQOLI-15问卷评估症状,评估年龄在18-80岁的维持性血液透析至少六个月的参与者,函数,人际关系,幸福,和QoL的超越维度。使用IBMSPSSStatisticsforWindows分析数据,版本26(2019年发布;IBMCorp.,Armonk,纽约)。推断性统计检验,包括比较两组的t检验和比较多组的方差分析(ANOVA),用于确定不同人口统计学和临床类别之间QoL评分差异的显著性。P值小于0.05被认为具有统计学意义。
    结果:该研究分析了140名血液透析患者,平均年龄52.41±16.31岁,平均血液透析时间4.55±2.46年。大多数参与者年龄在61-80岁(35.7%),受过中等教育(44.3%),已婚(67.1%)。QoL分数,使用MVQOLI测量,显示症状的平均值为4.51±10.71,功能为5.77±8.04,人际关系为7.49±13.67,幸福感为-13.60±7.11,超越为8.24±13.12,总分为16.24±2.75。重要的发现包括:女性的症状评分较高(p=0.001),幸福感评分较低(p=0.000);年轻患者(<30岁)的功能评分较高(p=0.054);每周接受三次血液透析的患者的功能评分较高(p=0.006);每天服用1至3粒药丸的患者的超越评分较高(p=0.000);未婚患者的症状评分较高(p=0.064)在总分中,每周接受一次血液透析的患者的评分明显较好(p=0.011).
    结论:这项研究强调了血液透析患者的不同QoL经历,超越得分最高和幸福,最低的。人口因素,如年龄,性别,教育水平显著影响QoL维度。了解这些发现可以指导个性化干预措施,以改善血液透析患者的幸福感。
    OBJECTIVE: This study aimed to evaluate the quality of life (QoL) in end-stage kidney disease (ESRD) patients on maintenance hemodialysis through the Missoula-Vitas Quality of Life Index-15 (MVQOLI-15) to identify factors affecting their well-being.
    METHODS: A cross-sectional study was conducted at the Dialysis Unit of the Nephrology Department, Nishtar Hospital Multan. Over six months, 140 eligible patients were enrolled using non-probability consecutive sampling. Participants aged 18-80 years on maintenance hemodialysis for at least six months were evaluated using the MVQOLI-15 questionnaire assessing symptoms, function, interpersonal, well-being, and transcendence dimensions of QoL. Data were analyzed using the IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, New York). Inferential statistical tests, including the t-test for comparing two groups and analysis of variance (ANOVA) for comparing multiple groups, were utilized to determine the significance of differences in QoL scores among different demographic and clinical categories. P-values less than 0.05 were considered statistically significant.
    RESULTS: The study analyzed 140 hemodialysis patients, with a mean age of 52.41 ± 16.31 years and an average hemodialysis duration of 4.55 ± 2.46 years. Most participants were aged 61-80 years (35.7%), had secondary education (44.3%), and were married (67.1%). QoL scores, measured using the MVQOLI, indicated mean values for symptoms at 4.51 ± 10.71, function at 5.77 ± 8.04, interpersonal at 7.49 ± 13.67, well-being at -13.60 ± 7.11, transcendence at 8.24 ± 13.12, and a total score of 16.24 ± 2.75. Significant findings include the following: females had higher symptom scores (p=0.001) and lower well-being scores (p=0.000); younger patients (<30 years) had higher function scores (p=0.054); patients on hemodialysis three times per week had higher function scores (p=0.006); patients taking 1 to 3 pills per day had higher transcendence scores (p=0.000); unmarried patients had higher symptoms scores (p=0.064) and lower well-being scores (p=0.004); and illiterate patients had higher symptoms (p=0.005) and transcendence scores (p=0.034). In total score, patients on hemodialysis once per week reported significantly better scores (p=0.011).
    CONCLUSIONS: This study highlights varied QoL experiences among hemodialysis patients, with transcendence scoring the highest and well-being, the lowest. Demographic factors such as age, gender, and education level significantly impact the QoL dimensions. Understanding these findings can guide personalized interventions to improve the well-being of hemodialysis patients.
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  • 文章类型: Journal Article
    治疗后莱姆病(PTLD)的患者报告对护理的负面看法以及医疗专业人员的严重无效。然而,尚未检查无效与疾病严重程度的关系,也没有发现无效的危险因素。这项横断面研究招募了80名符合PTLD严格标准的患者。我们检查了疾病无效清单和症状严重程度的测量之间的相关性,生活质量,相信医生。为了研究无效与潜在的人口统计学和临床因素之间的关系,我们生成了简单的未调整线性回归模型和多变量调整线性回归模型.我们发现,疾病无效清单的较高的“缺乏理解”和“折扣”子量表得分与较高的症状严重程度显着正相关,生活质量较低,对医生的信任度较低。在调整后的线性回归模型中,年龄较大(缺乏理解力:β=-0.17,p=0.008,折现:β=-0.19,p=0.001,每10年)和男性(缺乏理解力:β=-0.49,p=0.016,折现:β=-0.51,p=0.006)与较少无效相关。我们还确定接受PTLD的替代诊断是性别与无效之间关系的中介。根据我们的发现,我们假设,在临床治疗期间减少患者的无效性可对PTLD患者的疾病负担和生活质量产生积极影响.
    Patients with post-treatment Lyme disease (PTLD) report negative perceptions of care and significant invalidation from medical professionals. However, the relationship of invalidation to illness severity has not been examined, nor have risk factors for invalidation been identified. This cross-sectional study enrolled 80 patients who met stringent criteria for PTLD. We examined correlations between the Illness Invalidation Inventory and measures of symptom severity, quality of life, and trust in physicians. To study the relationship between invalidation and potential demographic and clinical factors, we generated simple unadjusted and multivariate adjusted linear regression models. We found that higher \'lack of understanding\' and \'discounting\' subscale scores of the Illness Invalidation Inventory were significantly positively correlated with higher symptom severity, lower quality of life, and lower trust in physicians. In adjusted linear regression models, older age (lack of understanding: β = - 0.17, p = 0.008, discounting: β = - 0.19, p = 0.001, every 10 years) and male gender (lack of understanding: β = - 0.49, p = 0.016, discounting: β = - 0.51, p = 0.006) were associated with less invalidation. We also identified receiving an alternative diagnosis for PTLD as a mediator in the relationship between gender and invalidation. Based on our findings, we hypothesize that reducing invalidation within the clinical encounter could positively affect illness burden and quality of life for patients with PTLD.
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  • 文章类型: Journal Article
    帕金森病(PD)是一种进行性、慢性神经退行性疾病,代表着巨大的经济和社会负担。它通常由运动症状(MS)定义,然而,这并不能反映患者的全部负担。非运动症状(NMS)越来越被认为是PD的主要特征。尽管最近的事态发展,NMS在患者和临床医生的研究中仍然缺乏认可,可能导致错误的诊断和治疗.因此,这项研究采用了范围审查来确定相关的NMS,他们的患病率,以及它们对生活质量(QoL)和疾病成本(COI)的影响。其次,这项研究旨在确定当前围绕PDNMS的知识体系中的差距,并提出未来研究可以弥合这些差距的可能方法。
    此范围审查确定了60条记录,使用PubMed和WebofScience。它包括来自西班牙或意大利的研究,包括帕金森病患者的数据。使用MicrosoftExcel进行比较分析。
    它表明与NMS相关的证据,他们的患病率,QoL,和COI是有限的,或者估计在解释困难的程度上有所不同。
    大多数研究都受到泛化的影响,representation,和标准化问题,源于他们的设计和方法决策。尽管由于范围审查设计,本研究的结果应谨慎解释,对未来的研究提出了一些建议,以产生更可靠的数据。
    UNASSIGNED: Parkinson\'s Disease (PD) is a progressive, chronic neurodegenerative disease, representing significant economic and social burdens. It is typically defined by motor symptoms (MSs), however, this does not reflect the full patient burden. Non-motor symptoms (NMSs) are increasingly recognized as central characteristics of PD. However, they still lack recognition in research. Therefore, this study aims to identify relevant NMSs, their prevalence, and the effect they have on Quality-of-Life (QoL) and Cost-of-Illness (COI). Secondly, it aims to identify gaps in the current body of knowledge and propose possible ways future research could bridge those gaps.
    UNASSIGNED: The study employed a scoping review, identifying 60 records for inclusion, using PubMed and Web of Science. It included studies from Spain or Italy, including data on People with Parkinson\'s Disease. A comparative analysis was performed using Microsoft Excel.
    UNASSIGNED: It showed that the body of evidence relevant to NMSs, their prevalence, QoL, and COI is limited, or that estimates vary to an extent where interpretation is difficult.
    UNASSIGNED: Most studies suffer from generalization, representation, and standardization issues, stemming from their designs and methodological decisions. Although the findings of this study should be interpreted with caution, several recommendations are made for future research.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Journal Article
    低甲基化药物(HMA)是指南推荐的治疗高危骨髓增生异常综合征/肿瘤(MDS)的方法。然而,先前对MDS患者的调查报告了静脉内(IV)和皮下(SC)HMA疗法的挑战,包括与治疗管理相关的疼痛和对日常活动的干扰;大多数患者还表示,如果有口服治疗,则倾向于改用口服治疗。
    本研究评估了美国MDS患者接受口服地西他滨/西达尿苷(DEC-C)的观点,IV/SCHMA的替代方案。
    在美国(2022年11月10日至2022年12月5日)的MDS成年患者中进行了一项在线调查,这些患者在2021年至2022年之间服用了口服DEC-C的处方。
    共有150名患者完成了调查;61%的患者年龄为60岁,63%为男性。其中,123(82%)仍在接受口服DEC-C,27人(18%)停止口服DEC-C治疗。一半(50%)的患者接受口服DEC-C治疗6个月。大多数报告说,治疗是方便的(83%),他们对治疗感到满意(86%)。大多数患者也报告很少/没有干扰规律的日常活动(82%),社交活动(78%),和生产率(78%)。当被问及对生活质量(QOL)的负面影响时,治疗副作用是最常见的报告(30%的受访者).在先前接受过IV/SCHMA的患者中(n=91),大多数人认为口服DEC-C对日常生活的干扰较少(91%),与以前的治疗相比,QOL有所改善(85%);91%报告口服DEC-C减少了前往医疗机构所需的次数.
    调查结果表明,口服DEC-C相对于IV/SCHMA,对日常活动的影响很小/没有影响,生活质量得到改善,强调口服DEC-C减轻与肠胃外HMA治疗相关的治疗负担的潜力。
    UNASSIGNED: Hypomethylating agents (HMAs) are guideline-recommended treatment for higher-risk myelodysplastic syndromes/neoplasms (MDS). However, a prior survey of patients with MDS reported challenges with intravenous (IV) and subcutaneous (SC) HMA therapies, including pain related to treatment administration and interference with daily activities; most patients also indicated a preference to switch to an oral therapy if one were available.
    UNASSIGNED: This study evaluated the perspectives of US patients with MDS receiving oral decitabine/cedazuridine (DEC-C), an alternative to IV/SC HMAs.
    UNASSIGNED: An online survey was conducted among adult patients with MDS in the United States (10 November 2022 to 5 December 2022) who had filled a prescription for oral DEC-C between 2021 and 2022.
    UNASSIGNED: A total of 150 patients completed the survey; 61% were aged ⩾60 years and 63% were male. Of these, 123 (82%) were still receiving oral DEC-C, and 27 (18%) had stopped oral DEC-C treatment. Half (50%) of patients had received oral DEC-C for ⩾6 months. The majority reported that treatment was convenient (83%) and that they were satisfied with treatment (86%). Most patients also reported very little/no interference with regular daily activities (82%), social activities (78%), and productivity (78%). When queried about negative impacts on quality of life (QOL), treatment side effects were the most commonly reported (30% of respondents). Among patients who had previously received IV/SC HMAs (n = 91), most agreed that oral DEC-C interfered less with daily life (91%) and had experienced improvement in QOL (85%) compared with previous treatment; 91% reported that oral DEC-C reduced the number of times they needed to travel to a healthcare facility.
    UNASSIGNED: Survey results suggest very little/no impact on regular daily activities and improved QOL with oral DEC-C relative to IV/SC HMAs, highlighting the potential for oral DEC-C to reduce the treatment burden associated with parenteral HMA therapy.
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  • 文章类型: Journal Article
    生活质量(QOL)对于预后不良的癌症患者很重要。然而,对患者进行QOL调查很困难。因此,我们与医生进行了QOL调查。具体来说,本研究旨在通过开展一项调查并比较医师与公众的结果,阐明医师如何评估胰腺癌患者的生活质量.
    通过采访医生对复发/转移性胰腺癌患者进行化疗进行调查。这种方法类似于在公众中进行的QOL调查。使用11种胰腺癌状态情景(调查情景)的复合时间权衡(cTTO)和视觉模拟量表(VAS)评估反应。这些情景包括患者的健康状况以及不良事件(AE)的类型和等级。健康状况分为两类:稳定疾病(SD)和进行性疾病(PD)。此外,我们使用EuroQol5Dimensions5-Level(EQ-5D-5l)作为参考值进行了调查。
    20位医生回答了这项调查。两种评估方法的SD平均QOL值最高(医师:0.78,公众:0.63),而PD的平均生活质量值最低(医师:0.15,公众:-0.12)。在所有调查方案中,医生在VAS和cTTO上分配的QOL值均高于普通公众。
    从医生那里获得的QOL值与任何评估方案中的状态程度一致。根据医生和普通公众的QOL调查结果的差异,在cTTO和VAS评估中,医生倾向于赋予比一般公众更高的QOL值.
    UNASSIGNED: Quality-of-life (QOL) is important for cancer patients with poor prognosis. However, conducting a QOL survey with patients is difficult. Therefore, we conducted a QOL survey with physicians. Specifically, this study aimed to clarify how physicians assess QOL in patients with pancreatic cancer by conducting a survey and comparing the results between physicians and the general public.
    UNASSIGNED: A survey was conducted by interviewing physicians administering chemotherapy to patients for recurrent/metastatic pancreatic cancer. This method is similar to that of the QOL survey conducted among the general public. Responses were evaluated using the composite time trade-off (cTTO) and the visual analog scale (VAS) for 11 pancreatic cancer status scenarios (survey scenarios). These scenarios consisted of patients\' health states as well as the types and grades of adverse events (AEs). Health status was classified into two categories: Stable disease (SD) and Progressive disease (PD). In addition, we conducted a survey using the EuroQol 5 Dimensions 5-Level (EQ-5D-5l) as reference values.
    UNASSIGNED: Twenty physicians responded to the survey. SD had the highest mean QOL value for both assessment methods (Physicians: 0.78, General public: 0.63), whereas PD had the lowest mean QOL value (Physicians: 0.15, General public: -0.12). The physicians assigned higher QOL values on both the VAS and cTTO than the general public did in all survey scenarios.
    UNASSIGNED: The QOL values obtained from physicians were consistent with the degree of status in any assessment scenarios. Based on the differences in the QOL survey results between physicians and the general public, physicians tended to assign higher QOL values than the general public in cTTO and VAS assessments.
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    背景:DNA甲基化将环境信号与转录程序整合在一起。COVID-19感染诱导宿主甲基化改变。虽然COVID-19急性后遗症(PASC)是急性疾病的长期并发症,其与DNA甲基化的关联尚不清楚。没有通用的PASC血液标记,取代单器官功能障碍,尚未确定。
    方法:在这项单中心前瞻性队列研究中,PASC,没有PASC的COVID后,健康参与者被纳入研究他们的症状与外周血DNA甲基化数据的相关性,这些数据是通过最先进的全基因组测序产生的.使用经过验证的仪器对PASC引起的生活质量恶化进行评分,SF-36.进行了分析,以确定差异甲基化基因座的潜在功能作用,和机器学习算法用于解决PASC严重程度。
    结果:103例PASC患者(22.3%男性,77.7%女性),15例既往有COVID-19感染但无PASC的患者(40.0%男性,60.0%女性),和27名健康志愿者(48.1%的男性,51.9%为女性)。全基因组甲基化测序显示了39个PASC特异性的差异甲基化区域(DMRs),每个人平均拥有15个连续职位,将PASC患者与两个对照组区分开来。PASC调节的DMRs的基序分析确定了调节昼夜节律的转录因子的结合域和其他。一些蛋白质编码基因的DMRs与RNA表达的变化有关。机器学习支持向量算法和随机森林层次聚类揭示了基因组中28个独特的差异甲基化位置(DMP),可区分生活质量更好和更差的患者。
    结论:血液DNA甲基化水平鉴定PASC,对PASC严重程度进行分层,并表明PASC中的昼夜节律调节途径靶向DNA基序。
    背景:该项目由以下机构资助:NIH-AI173035(A.Jaitovich和R.Alisch);和NIH-AG066179(R.阿里施)。
    BACKGROUND: DNA methylation integrates environmental signals with transcriptional programs. COVID-19 infection induces changes in the host methylome. While post-acute sequelae of COVID-19 (PASC) is a long-term complication of acute illness, its association with DNA methylation is unknown. No universal blood marker of PASC, superseding single organ dysfunctions, has yet been identified.
    METHODS: In this single centre prospective cohort study, PASC, post-COVID without PASC, and healthy participants were enrolled to investigate their symptoms association with peripheral blood DNA methylation data generated with state-of-the-art whole genome sequencing. PASC-induced quality-of-life deterioration was scored with a validated instrument, SF-36. Analyses were conducted to identify potential functional roles of differentially methylated loci, and machine learning algorithms were used to resolve PASC severity.
    RESULTS: 103 patients with PASC (22.3% male, 77.7% female), 15 patients with previous COVID-19 infection but no PASC (40.0% male, 60.0% female), and 27 healthy volunteers (48.1% male, 51.9% female) were enrolled. Whole genome methylation sequencing revealed 39 differentially methylated regions (DMRs) specific to PASC, each harbouring an average of 15 consecutive positions, that differentiate patients with PASC from the two control groups. Motif analyses of PASC-regulated DMRs identify binding domains for transcription factors regulating circadian rhythm and others. Some DMRs annotated to protein coding genes were associated with changes of RNA expression. Machine learning support vector algorithm and random forest hierarchical clustering reveal 28 unique differentially methylated positions (DMPs) in the genome discriminating patients with better and worse quality of life.
    CONCLUSIONS: Blood DNA methylation levels identify PASC, stratify PASC severity, and suggest that DNA motifs are targeted by circadian rhythm-regulating pathways in PASC.
    BACKGROUND: This project has been funded by the following agencies: NIH-AI173035 (A. Jaitovich and R. Alisch); and NIH-AG066179 (R. Alisch).
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  • 文章类型: Journal Article
    肠易激综合征(IBS),一种肠-脑相互作用的障碍,通常与躯体疼痛和心理障碍并存。脑源性神经营养因子(BDNF)及其受体的异常信号调节,原肌球蛋白相关激酶B(TrkB),与IBS患者的躯体心理症状有关。我们研究了NTRK2(TrkB)激酶结构域缺陷型截短同种型(TrkB)的调节3'非翻译区(UTR)中10个单核苷酸多态性(SNP)的关联。T1)和BDNFVal66MetSNP具有躯体和心理症状以及来自美国(U.S.)的队列中的生活质量(IBSn=464;健康对照n=156)。我们发现,在IBS患者中rs2013566的纯合隐性基因型(G/G)与躯体症状恶化有关,包括头痛,背痛,关节痛,肌肉疼痛,躯体化以及睡眠质量下降,能量水平和整体生活质量。使用英国BioBank(UKBB)数据进行的验证证实了rs2013566与头痛可能性增加的关联。在我们的美国队列中,一些SNP(rs1627784,rs1624327,rs1147198)显示出与肌肉疼痛的显着关联。这4个SNP主要位于H3K4Me1富集区域,提示它们的增强子和/或转录调节潜力。我们的发现表明,TrkB的3'UTR区域内存在遗传变异。T1同工型可能导致IBS患者的合并症,导致一系列躯体和心理症状影响他们的生活质量。这些发现促进了我们对BDNF/TrkB通路与IBS躯体心理症状之间的遗传相互作用的理解。强调进一步探索这种相互作用对潜在临床应用的重要性。透视:本研究旨在了解对IBS相关症状的遗传影响,心理,和生活质量领域,由UKBB数据验证。rs2013566纯合隐性基因型与躯体症状恶化和生活质量下降相关。强调其临床意义。
    Irritable bowel syndrome (IBS), a disorder of gut-brain interaction, is often comorbid with somatic pain and psychological disorders. Dysregulated signaling of brain-derived neurotrophic factor (BDNF) and its receptor, tropomyosin-related kinase B (TrkB), has been implicated in somatic-psychological symptoms in individuals with IBS. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the regulatory 3\' untranslated region of neurotrophic receptor tyrosine kinase-2 (NTRK2) kinase domain-deficient truncated isoform (TrkB.T1) and BDNF Val66Met SNP with somatic and psychological symptoms and quality-of-life (QoL) in a cohort from the United States (IBS, n = 464; healthy controls, n = 156). We found that the homozygous recessive genotype (G/G) of rs2013566 in individuals with IBS is associated with worsened somatic symptoms, including headache, back pain, joint pain, muscle pain, and somatization as well as diminished sleep quality, energy level, and overall QoL. Validation using United Kingdom BioBank data confirmed the association of rs2013566 with an increased likelihood of headache. Several SNPs (rs1627784, rs1624327, and rs1147198) showed significant associations with muscle pain in our U.S. cohort. These 4 SNPs are predominantly located in H3K4Me1-enriched regions, suggesting their enhancer and/or transcription regulation potential. Our findings suggest that genetic variation within the 3\' untranslated region region of the TrkB.T1 isoform may contribute to comorbid conditions in individuals with IBS, resulting in a spectrum of somatic and psychological symptoms impacting their QoL. These findings advance our understanding of the genetic interaction between BDNF/TrkB pathways and somatic-psychological symptoms in IBS, highlighting the importance of further exploring this interaction for potential clinical applications. PERSPECTIVE: This study aims to understand the genetic effects on IBS-related symptoms across somatic, psychological, and quality-of-life (QoL) domains, validated by United Kingdom BioBank data. The rs2013566 homozygous recessive genotype correlates with worsened somatic symptoms and reduced QoL, emphasizing its clinical significance.
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