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AI will not give us precision medicine. 人工智能不会给我们带来精准医疗。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_03
Lorenzo Farina

The completion of human DNA sequencing in the early 2000s initially generated widespread excitement and hope that it would revolutionize medicine. Over time, however, it revealed major limitations due to a lack of understanding of the highly complex genotype-phenotype pathway. Precision medicine has emerged as a response to these biotechnological innovations, tailoring treatments based on an array of new molecular and clinical "omics" data. However, the large volume and heterogeneity of data available today requires the use of dedicated and highly efficient computational analyses. Widely used today are artificial intelligence techniques (such as machine learning) based on artificial neural networks, i.e., a mathematical model of how biological neurons work. Here, we show that artificial neural networks have nothing to do with biology, although their popularity is largely due to their alleged ability to simulate the human brain. Furthermore, we argue that the analysis of large molecular datasets cannot be left to the computational side alone, i.e., to be exclusively data-driven, but on the contrary must meet the challenge of integrating data and expertise, of getting clinicians and data analysts to work together to take into account the absolute and ineradicable uniqueness of each patient's characteristics.

人类 DNA 测序工作于 2000 年代初完成,最初引起了广泛的关注,人们希望它能彻底改变医学。然而,随着时间的推移,由于缺乏对高度复杂的基因型-表型途径的了解,它暴露出了很大的局限性。作为对这些生物技术创新的回应,精准医疗应运而生,它根据一系列新的分子和临床 "omics "数据来定制治疗方案。然而,目前可用的数据量大、异质性强,需要使用专用的高效计算分析。目前广泛使用的人工智能技术(如机器学习)基于人工神经网络,即生物神经元如何工作的数学模型。在这里,我们要说明的是,人工神经网络与生物学毫无关系,尽管它们的流行在很大程度上是因为它们据称能够模拟人脑。此外,我们还认为,对大型分子数据集的分析不能只由计算一方来完成,即不能完全由数据驱动,相反,必须迎接将数据与专业知识相结合的挑战,让临床医生和数据分析师共同努力,考虑到每位患者的绝对和不可改变的独特性。
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引用次数: 0
From COVID-19 to a "new normal": could we support a "healthy renaissance" for our cities? 从 COVID-19 到 "新常态":我们能否支持城市的 "健康复兴"?
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_10
Laura Mancini, Ornella Punzo, Silvio Brusaferro

Background: At the beginning of 2020, worldwide public debate focused on the fight against the climate crisis. Many challenges are ahead of us, from health emergencies, with the pandemics underway, to the exhaustion of natural resources, to major climate change.

Discussion: Many cities face health threats related to urban and land use planning, while infectious diseases thrive in overcrowded cities: living in unhealthy environments killed 12,6 million people in 2012 and air pollution killed 7 million people in 2016. Urbanization is one of the major global trends of the 21st century and has a significant impact on health. Over 55% of the world's population lives in urban areas, a percentage that is expected to increase to 68% by 2050.

Conclusions: Developing new and more sustainable ways of living, moving, utilizing resources, and accessing services including healthcare and education, is crucial to preserve our future and the future of the next generations.

背景:2020 年初,全球公众辩论的焦点是如何应对气候危机。我们面临着许多挑战,从正在发生的大流行病带来的健康紧急状况,到自然资源的枯竭,再到重大的气候变化:许多城市面临着与城市和土地使用规划相关的健康威胁,而传染病则在过度拥挤的城市中肆虐:2012 年,生活在不健康环境中的 1260 万人死亡,2016 年,空气污染导致 700 万人死亡。城市化是 21 世纪全球的主要趋势之一,对健康有着重大影响。超过 55% 的世界人口生活在城市地区,预计到 2050 年,这一比例将增至 68%:开发新的、更可持续的生活方式、移动方式、资源利用方式以及获取包括医疗保健和教育在内的服务的方式,对于保护我们的未来和下一代的未来至关重要。
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引用次数: 0
Consequences of COVID-19 pandemic on weight gain and physical activity: a prospective cohort study from Italy. COVID-19 大流行对体重增加和体育锻炼的影响:意大利前瞻性队列研究。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_06
Chiara Stival, Alessandra Lugo, Giulia Carreras, Anna Odone, Piet A van den Brandt, Giuseppe Gorini, Sabrina Molinaro, Sonia Cerrai, Roberta Pacifici, Silvano Gallus

Introduction: It is crucial to monitor changes in body weight and physical activity (PA) to understand if short-term effects of COVID-19 pandemic have had implications over time.

Methods: This longitudinal study is based on data from 4,831 Italians aged 18-74 years interviewed during the first phase of COVID-19 pandemic (April-May 2020) and two years later (February-March 2022). Changes in body weight and PA were assessed through multivariable analyses in association with socio-demographic and psychological characteristics.

Results: Over the two years, 17.4% reported a weight gain of at least 5 kg and 32.8% a decreased PA by at least 4 hours per week. Weight gain and decreased PA were more frequent in participants from the less wealthy areas, with lower educational level and those who reported a worsening in mental health.

Conclusions: After two years from the start of the pandemic, in Italy we observed a trend toward a renormalization of body weight and PA. The segments of the population mostly affected by the pandemic are subjects with more disadvantaged socio-economic status and with an impaired mental health.

简介:监测体重和体力活动(PA)的变化至关重要:监测体重和身体活动(PA)的变化对于了解 COVID-19 大流行的短期影响是否会随着时间的推移而产生影响至关重要:这项纵向研究基于 COVID-19 大流行第一阶段(2020 年 4 月至 5 月)和两年后(2022 年 2 月至 3 月)采访的 4831 名 18-74 岁意大利人的数据。通过与社会人口和心理特征相关的多变量分析评估了体重和PA的变化:在这两年中,17.4%的人称体重增加了至少 5 公斤,32.8%的人称每周运动时间减少了至少 4 小时。来自较不富裕地区、受教育程度较低以及报告精神健康状况恶化的参与者的体重增加和运动量减少的频率更高:结论:大流行开始两年后,我们在意大利观察到了体重和运动量恢复正常的趋势。受大流行病影响最大的人群是社会经济地位较差和精神健康受损的人。
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引用次数: 0
Screening for antenatal maternal depression: comparative performance of the Edinburgh Postnatal Depression Scale and Patient Health Questionnaire-9. 产前产妇抑郁症筛查:爱丁堡产后抑郁量表和患者健康问卷-9 的比较结果。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_08
Alberto Stefana, Loredana Cena, Alice Trainini, Gabriella Palumbo, Antonella Gigantesco, Fiorino Mirabella

Background: Maternal antenatal depression affects 21-28% of expectants globally and negatively impacts both maternal and child health in the short and long term.

Objective: To compare the psychometric properties and clinical utility of the Edinburgh Postnatal Depression Scale (EPDS) and the Patient Health Questionnaire (PHQ-9) in pregnant individuals.

Methods: In this cross-sectional study, 953 third-trimester pregnant Italian individuals completed both the EPDS and the PHQ-9.

Results: Both scales demonstrated good internal consistency (EPDS ω=0.83, PHQ-9 ω=0.80) and a moderate correlation between their scores (r=0.59). Concordance at recommended cut-off points (≥14 for both) was moderate (k=0.55). Factor analyses indicated a bifactor solution for the EPDS (dimensions: "depression" and "anxiety") and for the PHQ-9 (dimensions: "depression", "pregnancy symptoms", "somatic"). Benchmarks for clinical change were also established.

Conclusions: The EPDS and PHQ-9 capture distinct aspects of perinatal depressive symptomatology. Clinically, these findings recommend using both scales in obstetric and gynaecologic settings to minimize false positives and negatives.

背景:产前抑郁症影响全球 21-28% 的孕妇,并对母婴健康造成短期和长期的负面影响:全球有 21-28% 的孕妇患有产前抑郁症,并对母婴健康造成短期和长期的负面影响:比较爱丁堡产后抑郁量表(EPDS)和患者健康问卷(PHQ-9)在孕妇中的心理测量特性和临床实用性:在这项横断面研究中,953 名怀孕三个月的意大利孕妇完成了 EPDS 和 PHQ-9:结果:两个量表均显示出良好的内部一致性(EPDS ω=0.83,PHQ-9 ω=0.80),得分之间的相关性适中(r=0.59)。推荐截断点(两者均≥14)的一致性为中等(k=0.55)。因素分析表明,EPDS(维度:"抑郁 "和 "焦虑")和 PHQ-9(维度:"抑郁"、"妊娠症状 "和 "躯体")采用了双因素解决方案。此外,还建立了临床变化基准:结论:EPDS 和 PHQ-9 可捕捉围产期抑郁症状的不同方面。在临床上,这些发现建议在妇产科环境中使用这两种量表,以尽量减少假阳性和假阴性。
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引用次数: 0
Post-Acute Sequelae of COVID-19 Checklist (PASC-C): a screening tool for Long COVID physical, psychological, and cognitive symptoms. COVID-19 急性后遗症核对表(PASC-C):COVID 长期生理、心理和认知症状筛查工具。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_07
Daniela Mancini, Marina Maffoni, Valeria Torlaschi, Alessandra Gorini, Maria Teresa La Rovere, Cira Fundarò, Francesco Fanfulla, Maurizio Bussotti, Sergio Masnaghetti, Antonia Pierobon

Background: The management of Long COVID symptoms is necessary. This study proposes a screening tool for psycho-physical COVID-19 sequelae. Patients' experiences after COVID-19 are also described.

Method: 84 COVID-19 patients (66.2±11.0 years old; 71.4% male) underwent a phone interview 1-2 years after the disease using the ad-hoc "Post-Acute Sequelae of COVID-19 Checklist (PASC-C)". It explores 30 physical, psychological, and cognitive symptoms clustered into 10 areas, with possible clinical recommendations in case of high severity scores (>50) of a symptom or the presence of two or more ones within the same area.

Results: Overall, fatigue (69%), dyspnea (52.4%), memory disturbances (44%), joint-muscle pain (41.7%), vision/hearing loss (40.5%), anxiety (40.5%) persist one-two years after COVID-19 disease. Being a survivor was primarily defined in terms of being "lucky".

Conclusions: PASC-C seems promising in monitoring psycho-physical sequelae of Long COVID and providing tailored suggestions to care for the patient over time.

背景:有必要对长 COVID 症状进行管理。本研究提出了一种针对 COVID-19 后遗症的心理-生理筛查工具。方法:84 名 COVID-19 患者(66.2±11.0 岁;71.4% 为男性)在患病 1-2 年后接受了电话访谈,访谈中使用了临时制作的 "COVID-19 后遗症检查表(PASC-C)"。该表列出了 30 种身体、心理和认知症状,共分为 10 个方面,如果某一症状严重程度较高(>50 分)或同一方面出现两种或两种以上症状,则可能需要临床建议:总的来说,在 COVID-19 病发一两年后,疲劳(69%)、呼吸困难(52.4%)、记忆障碍(44%)、关节肌肉疼痛(41.7%)、视力/听力下降(40.5%)、焦虑(40.5%)等症状仍然存在。幸存者的主要定义是 "幸运":PASC-C似乎有望监测长COVID的心理-生理后遗症,并为长期护理患者提供量身定制的建议。
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引用次数: 0
Exploitation of immunological approaches for the quality testing of human vaccines to phase out the use of animals. Editorial. 利用免疫学方法对人类疫苗进行质量检测,以逐步淘汰对动物的使用。编辑
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_01
Marilena P Etna, Enrico Alleva, Eliana M Coccia
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引用次数: 0
Stability/Flexibility: the tightly coupled homeostasis generator is at the same time the driver of change. 稳定性/灵活性:紧密耦合的稳态生成器同时也是变化的驱动力。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_11
Alessandro Giuliani, Alessandro Vici

There is "no Flexibility without Stability and no Stability without Flexibility": this is a crucial feature common to any system interacting with its environment. This tight link between two apparently opposite features is at the basis of the time-honoured concept of homeostasis (the tendency of any adaptive system to go back to its "comfort zone" contrasting the incoming perturbations) and is widely recognized since long time. On the contrary, the fact that the escape from a stable attractor state is a consequence of the same homeostasis mechanisms is often overlooked. In this brief note, we will try to give a proof-of-concept of the relation existing between stability/flexibility based homeostasis and the state changes at all the levels of biological organization. The ubiquity of the same principles across very different systems is a signature of a new attitude to look at scientific enterprise from a network-based viewpoint.

没有稳定就没有灵活,没有灵活就没有稳定":这是任何与环境相互作用的系统都具有的一个重要特征。这两个看似相反的特征之间的紧密联系,是历史悠久的 "平衡 "概念(任何适应性系统都倾向于回到其 "舒适区",与传入的扰动形成鲜明对比)的基础,自古以来已被广泛认可。与此相反,人们往往忽视了从稳定吸引子状态的逃逸也是同态平衡机制的结果这一事实。在这篇简短的文章中,我们将尝试证明基于稳定性/灵活性的稳态与生物组织各层次状态变化之间的关系。相同的原理在截然不同的系统中无处不在,这标志着一种从网络角度看待科学事业的新态度。
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引用次数: 0
Smoking cessation in the management of Chronic Obstructive Pulmonary Disease (COPD): narrative review and recommendations. 慢性阻塞性肺病(COPD)治疗中的戒烟:综述与建议。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_04
Rosastella Principe, Vincenzo Zagà, Paola Martucci, Loreta Di Michele, Carlo Barbetta, Antonella Serafini, Maria Sofia Cattaruzza, Claudia Giacomozzi

Background: The percentage of smokers who develop COPD (Chronic Obstructive Pulmonary Disease) peaks at 40-50% in most recent publications.

Summary: Tobacco smoke remains the main cause of COPD, though smoking-related limitation of the flow is rather subjective. For patients who keep on smoking, general practitioners (GPs) and pulmonologists should be able to offer smoking cessation programs as an important part of COPD treatment. This narrative article aims to provide the scientific basis to help healthcare professionals develop this therapy; with this aim in mind, the authors have analyzed the most recent literature.

Key messages: Only 3% of smokers who try to quit without availing themselves of any support succeed. Effective smoking cessation methods are counselling and pharmacotherapy, which, combined together, are credited with a 24% success rate. Although there are no therapeutic novelties with strong scientific evidence for smoking cessation, it is however advisable to keep the literature updated to new devices and new digital therapies.

背景:摘要:烟草烟雾仍然是慢性阻塞性肺病的主要病因,尽管与吸烟有关的流量限制相当主观。对于持续吸烟的患者,全科医生(GP)和肺病专家应能提供戒烟计划,作为慢性阻塞性肺病治疗的重要组成部分。这篇叙述性文章旨在提供科学依据,帮助医护人员开发这种疗法;为此,作者分析了最新的文献资料:只有3%的吸烟者在没有任何支持的情况下尝试戒烟并获得成功。有效的戒烟方法是咨询和药物治疗,两者结合的成功率为 24%。虽然在戒烟方面还没有科学依据充分的新疗法,但我们还是应该不断更新文献,了解新设备和新的数字疗法。
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引用次数: 0
How to conduct research in palliative care? A perspective from Italy. 如何开展姑息关怀研究?来自意大利的视角。
Pub Date : 2024-01-01 DOI: 10.4415/ANN_24_01_09
Camilla Cocchi, Maria Beatrice Zazzara, Rosa Liperoti, Raffaella Antonione, Sabrina Dispenza, Gino Gobber, Eleonora Meloni, Italo Penco, Maria Adelaide Ricciotti, Graziano Onder

Background: In western countries, the increasing life expectancy and the growing number of individuals with advanced chronic conditions have resulted in a greater demand for palliative care. Specifically, Italy has witnessed substantial growth in the palliative care field, marked by the establishment of Palliative Care Networks and an academic fellowship program in 2022. To further enhance this field, it is crucial to conduct high-quality scientific research that produces results applicable in clinical practice.

Aim: This article explores challenges and potential solutions in conducting effective palliative care research, considering sample definition, research settings, outcomes, and ethical concerns. While focusing on the Italian context, the presented research framework can be applied to other contexts and regions.

Results: Palliative care research is complex and challenging due to its holistic approach, which encompasses various vital dimensions of patients and their families, including physical, emotional, and social needs. The Italian and worldwide experience provides insights into managing these challenges and enhancing the methodological rigor of studies and the practical application of research findings.

Conclusions: This article emphasizes the importance of developing protocols tailored to palliative care's unique characteristics, and the necessity of dedicated funding for palliative care research, calling for increased support and recognition. The article advocates for improvement of the quality and relevance of palliative care studies, promoting better patient outcomes and enhanced caregiving.

背景:在西方国家,预期寿命的延长和晚期慢性病患者人数的增加导致了对姑息关怀的更大需求。具体而言,意大利在姑息关怀领域取得了长足的发展,其标志是建立了姑息关怀网络,并在 2022 年推出了一项学术奖学金计划。目的:本文探讨了在开展有效的姑息关怀研究过程中所面临的挑战和可能的解决方案,同时考虑了样本定义、研究环境、结果和伦理问题。在关注意大利国情的同时,本文提出的研究框架也可适用于其他国情和地区:姑息关怀研究是一项复杂而具有挑战性的工作,因为它采用的是整体方法,涵盖了患者及其家属的各种重要方面,包括身体、情感和社会需求。意大利和全世界的经验为应对这些挑战、提高研究方法的严谨性和研究成果的实际应用提供了启示:本文强调了针对姑息关怀的独特性制定方案的重要性,以及为姑息关怀研究提供专项资金的必要性,并呼吁增加对姑息关怀研究的支持和认可。文章倡导提高姑息关怀研究的质量和相关性,促进改善患者预后和加强护理工作。
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引用次数: 0
期刊
Annali dell'Istituto superiore di sanita
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