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[Recommendations for the patient during the treatment of colorectal cancer through the enhanced recovery.] [建议患者在治疗期间通过大肠癌增强康复。]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2023-05-10
Pere Planellas Giné, Ernest Castro Gutiérrez, Lidia Cornejo, Ramon Farrés Coll

It is estimated that colorectal cancer is the cancer disease with the highest incidence in Spain  due to the increase in life expectancy and changes in the lifestyle of the population . Early detection through disease screening programs allows for more effective treatment and a higher survival rate . Advances in treatment have been made, such as targeted therapies, which focus on specifically attacking cancer cells and preventing their growth . However, much remains to be done in terms of prevention and treatment of colorectal cancer. More research and medical advances are required to combat this disease.

据估计,由于预期寿命的延长和人口生活方式的改变,结直肠癌是西班牙发病率最高的癌症疾病。通过疾病筛查项目进行早期检测,可以获得更有效的治疗和更高的存活率。治疗方面已经取得了进展,比如靶向治疗,它专注于特异性攻击癌细胞并阻止它们的生长。然而,在预防和治疗结直肠癌方面仍有许多工作要做。对抗这种疾病需要更多的研究和医学进步。
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引用次数: 0
[Chemical pollution, exposome and health in the Canary Islands population: An assessment of the situation.] [加那利群岛人口的化学污染、接触和健康:对情况的评估。]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2023-04-25
Luis D Boada, Luis A Henríquez Hernández, Octavio Pérez Luzardo, Eva E Álvarez-León, Manuel Zumbado Peña

Objective: The set of exposures to chemical substances and their role as a cause of disease gives rise to the concept of the exposome, partially made up of chemical pollutants to which an individual is exposed, which is why, unlike the genome, it is an a priori modifiable factor, its study being crucial in terms of Public Health. The population of the Canary Islands has been studied in terms of its levels of chemical contamination, with numerous biomonitoring studies, which makes it necessary to characterise its exposome and its consequences in terms of disease, in order to implement specific corrective measures to minimize the impact on its health.

Methods: A review of scientific literature (MEDLINE and Scopus) was made, according to PRISMA criteria and PICO methodology, to include studies on biomonitoring of pollutants, or evaluating the effect of pollutants on diseases prevalent in the archipelago.

Results: Twenty-five studies, both population-based and hospital-based, were selected. The results show that the exposome is made up of at least 110 compounds or elements, 99 of which appear to be present from the intrauterine stage. The presence of chlorinated pollutants and metals stands out, which seems to be related to the high incidence of metabolic diseases (diabetes), cardiovascular diseases (hypertension) and certain types of neoplasms (breast cancer). In short, the consequences are conditioned by the genome of the exposed population, reinforcing the enormous importance of genome-exposome interactions in the development of pathologies.

Conclusions: Our results indicate that it is necessary to establish corrective measures on the sources of pollution that modify the exposome of this population.

目标:一系列接触化学物质及其作为疾病原因的作用产生了接触体的概念,接触体部分由个人接触的化学污染物组成,这就是为什么与基因组不同,它是一个先验的可改变因素,对其进行研究对公共卫生至关重要。对加那利群岛人口的化学污染程度进行了研究,进行了大量的生物监测研究,因此有必要确定其接触程度及其疾病后果,以便实施具体的纠正措施,尽量减少对其健康的影响。方法:根据PRISMA标准和PICO方法,对科学文献(MEDLINE和Scopus)进行了回顾,以纳入污染物的生物监测或评估污染物对群岛流行疾病的影响的研究。结果:选取了25项以人群和医院为基础的研究。结果表明,暴露体由至少110种化合物或元素组成,其中99种似乎从宫内阶段就存在。氯化污染物和金属的存在很突出,这似乎与代谢性疾病(糖尿病)、心血管疾病(高血压)和某些类型的肿瘤(乳腺癌)的高发病率有关。简而言之,后果是由暴露人群的基因组决定的,这加强了基因组-暴露体相互作用在病理发展中的巨大重要性。结论:我们的结果表明,有必要建立污染源的纠正措施,以改变这一人群的暴露。
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引用次数: 0
[World Breastfeeding Week 2022: a call for deliberation.] [2022年世界母乳喂养周:呼吁审议]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2022-12-21
Germán Rojas Loyola

The last World Breastfeeding Week (SMLM, its initials in spanish) was a proper moment to deliberate on the facts, values and duties that are related to breastfeeding in order to give it value as a human phenomenon capable of providing well-being and creating healthy, emotionally stable and more fair. Along with the indicators that show the consumption of breastmilk in the child population, facts and values of mothers, fathers, civil society are examined; the health system, labor and development models. The duties are organized in optimal outputs that are grouped in the steps of the Initiative for the Humanization of Birth and Breastfeeding Assistance (IHAN, its initials in spanish), the warm chain of support; as well as in the policies of humanization and quality of service of the governing bodies of health. The deliberation shows the mother as the center of attention and her duty in charity for her baby; also the responsibility of health personnel as protagonists of change, supporting, educating and basing the value that breastfeeding has for both development model.

上一届世界母乳喂养周(SMLM,其西班牙语首字母缩写)是审议与母乳喂养有关的事实、价值观和责任的适当时机,以便赋予母乳喂养作为一种能够提供福祉和创造健康、情感稳定和更公平的人类现象的价值。除了显示儿童母乳消费量的指标外,还审查了母亲、父亲和民间社会的事实和价值观;卫生系统、劳动力和发展模式。这些职责是按照生育和母乳喂养援助人性化倡议(IHAN,其西班牙语首字母)的步骤组织的最佳产出,这是一个温暖的支持链;以及卫生管理机构的人性化和服务质量政策。这种深思熟虑表明,母亲是关注的中心,她有责任为她的孩子慈善;保健人员也有责任作为变革的倡导者,支持、教育和宣传母乳喂养对两种发展模式的价值。
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引用次数: 0
[COVID-19 exposure setting, social and gender determinants in a mediterranean region.] [地中海地区COVID-19暴露环境、社会和性别决定因素]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2022-12-19
Jesús Soriano López, Diego Salmerón Martínez, Rocío García Pina, Jesús Humberto Gómez, Inés Sánchez Rodríguez, Mónica Ballesta Ruíz, María Dolores Chirlaque López

Objective: Knowledge of social and gender determinants, which influence the places where people are exposed to COVID-19, may be relevant in the development of preventive and control strategies. The aim of this paper was to determine the context in which COVID-19 cases were infected (household, work/labor, health, social-health, and social-leisure settings) according to country of origin, occupational social class and gender, which is essential in order to designing public health strategies.

Methods: A cross-sectional study of an epidemiological registry of 56,628 COVID-19 incident cases was made, whose exposure/contagion setting was studied according to the previous variables from June 15 to December 23, 2020, in the Region of Murcia (Spain). An exact Fisher test was used to study the distribution of COVID-19 cases based on the above variables.

Results: The cumulative incidence was higher in people from Africa (5,133.5 cases/100,000 inhabitants) and Latin America (11,351.1) than in non-immigrants (3,145.7). It was also higher in women (3,885.6) than in men (3,572.6). It is noteworthy, that 53.3% of the cases with employment were workers in industry or construction, artisans, agricultural workers, or elementary occupations. In contrast, during the second semester of 2020, 41.3% of the employed population in the Region of Murcia performed such jobs. The household was the main exposure setting (56.5% of cases with a known setting), followed by social-leisure (20.7%) and work/labor (18.2%). The labor settings were more important in immigrants from Africa (28.4%) and Latin America (35.7%) than in non-immigrants (12%), inversely to social-leisure settings. Labor context was more important in women (19.6%) than in men (16.5%) and in manual workers (44.1%) than in non-manual workers (26.6%).

Conclusions: The context in which COVID-19 cases were infected is different according to social inequalities related to country of origin, gender and occupational social class.

目的:了解影响人们接触COVID-19的地方的社会和性别决定因素,可能与制定预防和控制战略有关。本文的目的是根据原籍国、职业社会阶层和性别确定COVID-19病例感染的环境(家庭、工作/劳动、卫生、社会卫生和社会休闲环境),这对于设计公共卫生战略至关重要。方法:对西班牙穆尔西亚地区2020年6月15日至12月23日56628例新冠肺炎病例流行病学登记资料进行横断面研究,并根据之前的变量研究其暴露/传染环境。基于上述变量,采用精确Fisher检验研究COVID-19病例分布。结果:非洲人群(5133.5例/10万居民)和拉丁美洲人群(11351.1例)的累积发病率高于非移民人群(3145.7例)。女性(3885.6)也高于男性(3572.6)。值得注意的是,53.3%的就业病例是工业或建筑工人、工匠、农业工人或初级职业的工人。相比之下,在2020年第二学期,穆尔西亚地区41.3%的就业人口从事这类工作。家庭是主要的暴露环境(56.5%的已知环境病例),其次是社会休闲(20.7%)和工作/劳动(18.2%)。非洲移民(28.4%)和拉丁美洲移民(35.7%)的劳动环境比非移民(12%)更重要,与社会休闲环境相反。女性(19.6%)比男性(16.5%)更重视劳动环境,体力劳动者(44.1%)比非体力劳动者(26.6%)更重要。结论:根据与原籍国、性别和职业社会阶层相关的社会不平等,COVID-19病例的感染背景存在差异。
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引用次数: 0
[Effect of prebiotics, probiotics, and symbiotics on molecular markers of inflammation in obesity.] [益生元、益生菌和共生菌对肥胖炎症分子标志物的影响。]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2022-12-15
Brian Eduardo Rangel-Torres, Isui Abril García-Montoya, Florinda Jiménez-Vega, Alejandra Rodríguez-Tadeo

Objective: Obesity is an inflammatory disease that is widely distributed in the world's population and is related to the leading causes of death. The use of prebiotics and probiotics can be an alternative treatment against obesity. Although there have been found physiological and biochemical effects of its use, the molecular mechanism remains unclear. The present review analyzed articles that suggested the activation of pathways related to the metabolism of the fatty acids, as well as the impact on anti-inflammatory mechanisms, as part of the mechanism of action of prebiotics and probiotics, to know therefore the possible pathways activated by the prebiotics and probiotics.

Methods: Exhaustive research was made on articles included in the period 2005-2021 related to the effect of prebiotics and probiotics in obesity, inflammatory diseases, and metabolic diseases. Identifying an effect on anti-inflammatory cytokines and PPAR modulation, with a consequent decrease in inflammation and fat degradation.

Results: A total of sixty-three articles were obtained, which were classified as basic information on molecular markers of obesity, the effect of prebiotics and probiotics in obesity, and articles related to anti-inflammatory effects and fatty acid metabolism observed in obesity and other inflammatory diseases.

Conclusions: The effect of prebiotics and probiotics in obesity can be linked to the anti-inflammatory mechanism produced, and this effect leads to an increase in the expression of genes related to fatty acid metabolism.

目的:肥胖是一种在世界人口中广泛分布的炎症性疾病,是导致死亡的主要原因之一。使用益生元和益生菌可以作为对抗肥胖的一种替代疗法。虽然已发现其使用的生理生化作用,但其分子机制尚不清楚。本文对益生元和益生菌作用机制中脂肪酸代谢相关通路的激活及其对抗炎机制的影响的相关文献进行分析,从而了解益生元和益生菌可能激活的通路。方法:对2005-2021年期间收录的有关益生元和益生菌对肥胖、炎症性疾病和代谢性疾病的影响的文章进行详尽的研究。确定对抗炎细胞因子和PPAR调节的影响,从而减少炎症和脂肪降解。结果:共获得63篇文章,分类为肥胖分子标记基础信息、益生元和益生菌在肥胖中的作用、肥胖及其他炎症疾病中观察到的抗炎作用和脂肪酸代谢相关文章。结论:益生元和益生菌对肥胖的作用可能与其产生的抗炎机制有关,这种作用导致脂肪酸代谢相关基因的表达增加。
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引用次数: 0
[Response to articleLean Six Sigma in the implementation of automated dispensing systems: improving the safe use of medications in thoracic surgery.] [对《实施自动配药系统中的精益六西格玛:提高胸外科药物的安全使用》一文的回应。]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2022-11-22
Allyson Cristel Gonzales Manrique, Joseph Jahir Sandoval Tipian, Luis Antonio Llanco Albornoz
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引用次数: 0
[Lean Six Sigma in the implementation of automated dispensing systems: improving the safe use of medications in thoracic surgery.] [精益六西格玛在自动配药系统的实施:提高胸外科药物的安全使用]
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2022-04-12
Siria Pablos Bravo, José Manuel Caro Teller, Candelas López-López, Ana María Carro Ruiz, Ana María Guede González, José Miguel Ferrari Piquero

Objective: Medications errors are a major problem that can cause a harm to inpatients. The main objective of the study was to compared medication errors in pharmacotherapeutic process before and after to carried out an intervention: to implant an automated dispensing cabine with to use Lean Six Sigma methodology. The secondary objective was to assess process performance, sigma level and defects per one million opportunities for medication error.

Methods: Quasi-experimental and randomized study carried out in a Thoracic Surgery Unit of a Spanish Hospital. A pharmaceutic recorded and assesed the medication errors detected during pre-intervention period (july-august 2017) and post-intervention period (march-april 2018). The steps analyzed were dispensing, storage and compounding/administration. The pharmacist observed a third of the medication dispensed, stored and compounded/administered during the study period. The observed medication was randomly selected using AleatorMetod.xls software. To perform the statistical analysis, Student's t test and Mann-Whitney U test were used to compare quantitative variables, and Chi-square test for qualitative variables. A significance level of p<0.05 was considered.

Results: The pharmaceutic recorded 4,538 drugs. After intervention, medication errors were decreased a 49% in total pharmacotherapeutic process (12.06% vs 6.15%; p<0.001). In addition, errors were decreased a 91.6% (4.27% vs 0.36%; p=0.004) in the step of medication storage; and a 75.8% (22.52% vs 5.46%; p<0.001) in the step of drugs compounding/administration. However, medication errors were increased in the step of medication dispensing (4.51% vs 15.29%; p<0.001). The process performance increased a 6% (87.9% vs 93.9%), sigma level increased from 2.67 to 3.04 and defects per one million opportunities for medication error decreased a 49%.

Conclusions: To implant an automated dispensing cabinet with Lean Six Sigma methodology helps create a safer environment for the inpatient, reducing medication errors in the steps of storage and preparation/administration, as well as improving the total process performance and sigma level.

目的:用药差错是对住院患者造成伤害的主要问题之一。本研究的主要目的是比较药物治疗过程中的用药错误,在进行干预之前和之后:植入自动配药柜,使用精益六西格玛方法。次要目标是评估过程性能、西格玛水平和每百万分之一次用药错误机会的缺陷。方法:在西班牙某医院胸外科进行准实验和随机研究。A药房记录并评估了干预前(2017年7月- 8月)和干预后(2018年3月- 4月)发现的用药错误。分析的步骤是配药、储存和配药/给药。药剂师在研究期间观察了三分之一的药物分配、储存和配制/施用。采用aleatormethod .xls软件随机抽取观察用药。进行统计分析时,定量变量比较采用Student’st检验和Mann-Whitney U检验,定性变量比较采用卡方检验。结果具有显著性水平:共记录药品4538种。干预后,整个药物治疗过程中的用药错误减少了49% (12.06% vs 6.15%;结论:采用精益六西格玛方法植入自动配药柜有助于为住院患者创造更安全的环境,减少储存和制备/给药环节的用药错误,提高整个过程的绩效和西格玛水平。
{"title":"[Lean Six Sigma in the implementation of automated dispensing systems: improving the safe use of medications in thoracic surgery.]","authors":"Siria Pablos Bravo,&nbsp;José Manuel Caro Teller,&nbsp;Candelas López-López,&nbsp;Ana María Carro Ruiz,&nbsp;Ana María Guede González,&nbsp;José Miguel Ferrari Piquero","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Medications errors are a major problem that can cause a harm to inpatients. The main objective of the study was to compared medication errors in pharmacotherapeutic process before and after to carried out an intervention: to implant an automated dispensing cabine with to use Lean Six Sigma methodology. The secondary objective was to assess process performance, sigma level and defects per one million opportunities for medication error.</p><p><strong>Methods: </strong>Quasi-experimental and randomized study carried out in a Thoracic Surgery Unit of a Spanish Hospital. A pharmaceutic recorded and assesed the medication errors detected during pre-intervention period (july-august 2017) and post-intervention period (march-april 2018). The steps analyzed were dispensing, storage and compounding/administration. The pharmacist observed a third of the medication dispensed, stored and compounded/administered during the study period. The observed medication was randomly selected using AleatorMetod.xls software. To perform the statistical analysis, Student's t test and Mann-Whitney U test were used to compare quantitative variables, and Chi-square test for qualitative variables. A significance level of p<0.05 was considered.</p><p><strong>Results: </strong>The pharmaceutic recorded 4,538 drugs. After intervention, medication errors were decreased a 49% in total pharmacotherapeutic process (12.06% vs 6.15%; p<0.001). In addition, errors were decreased a 91.6% (4.27% vs 0.36%; p=0.004) in the step of medication storage; and a 75.8% (22.52% vs 5.46%; p<0.001) in the step of drugs compounding/administration. However, medication errors were increased in the step of medication dispensing (4.51% vs 15.29%; p<0.001). The process performance increased a 6% (87.9% vs 93.9%), sigma level increased from 2.67 to 3.04 and defects per one million opportunities for medication error decreased a 49%.</p><p><strong>Conclusions: </strong>To implant an automated dispensing cabinet with Lean Six Sigma methodology helps create a safer environment for the inpatient, reducing medication errors in the steps of storage and preparation/administration, as well as improving the total process performance and sigma level.</p>","PeriodicalId":47152,"journal":{"name":"Revista Espanola De Salud Publica","volume":"96 ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10502923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Effect of physical exercise and diet based interventions on the evolution of cognitive impairment to dementia in subjects older than 45 years. A systematic review.] [体育锻炼和饮食干预对45岁以上受试者认知障碍向痴呆演变的影响。]系统的回顾。
IF 1.1 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2021-02-24
Lucía Ballarín-Naya, Sara Malo, Belén Moreno-Franco

Background: Dementia is a global public health problem. Drugs for this indication have shown limited benefit. The aim of the present study is to synthesize and analyze the available scientific evidence about effectiveness of interventions on diet and / or physical exercise by considering cognitive function as an outcome measure, in people over 45 years of age with mild cognitive impairment (MCI) in their evolution to Alzheimer's disease.

Methods: A bibliographic search of randomized clinical trials, systematic reviews, and meta-analyzes published from May 2008 to May 2019 was carried out in the Medline and The Cochrane Library databases. A total of 169 publications were identified, of which 42 studies that fulfilled inclusion criteria were reviewed.

Results: It was found that scheduled physical exercise of moderate-high intensity, performed 3 to 5 days a week, following a dietary pattern such as Mediterranean diet or DASH diet improve overall cognitive function in subjects with MCI. The results are enhanced when the studies combine both interventions and include cognitive stimulation exercises, allowing increasing the functionality of the subjects.

Conclusions: Intervention on modifiable factors such as physical exercise and diet provides cognitive protection in subjects with MCI, improving their quality of life, functionality and independence. The heterogeneity of the studies makes it difficult to draw up more concrete recommendations.

背景:痴呆症是一个全球性的公共卫生问题。针对这一适应症的药物疗效有限。本研究的目的是综合和分析现有的科学证据,通过将认知功能作为一种结果衡量标准,在45岁以上轻度认知障碍(MCI)发展为阿尔茨海默病的人群中,对饮食和/或体育锻炼进行干预的有效性。方法:在Medline和Cochrane图书馆数据库中检索2008年5月至2019年5月发表的随机临床试验、系统评价和荟萃分析。共发现169份出版物,其中42项研究符合纳入标准。结果:研究发现,按照地中海饮食或DASH饮食等饮食模式,每周进行3至5天的中高强度体育锻炼,可改善轻度认知障碍患者的整体认知功能。当研究将两种干预措施结合起来并包括认知刺激练习时,结果会得到加强,从而增加受试者的功能。结论:体育锻炼和饮食等可改变因素的干预可为轻度认知损伤患者提供认知保护,改善其生活质量、功能和独立性。这些研究的异质性使得很难提出更具体的建议。
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引用次数: 0
[Uncertainty, dynamic systems, principles of quantum mechanics and their relationship to the health-disease process (analysis proposal).] [不确定性、动态系统、量子力学原理及其与健康-疾病过程的关系(分析建议)]。
IF 0.9 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2020-12-22
Emilio Arch-Tirado, Miguel Ángel Collado-Corona, Ana Luisa Lino-González, Javier Terrazo-Lluch

The purpose of this work is to discuss the importance and possible application of some foundations of quantum mechanics in the health-disease process, considering for this, that the laws and foundations of atomic theory are the same that govern displacement in space and time in human beings. Based on the impossibility of determining the displacement of subatomic particles in a given space and time, as a consequence of not having measuring instruments for said microscales, we propose feasible that the same happens with the uncertainty generated by the times and movements of human beings in really large spaces, reason why the analysis of the temporo-spatial location of a moving subject, in a certain time and space is impossible, fact that we consider, could represent the behavior in Pandemics. The foundations of quantum mechanics that have been considered for this purpose are dynamic systems, the Schrödinger cat paradox, the Heisenberg uncertainty principle, the law of gases, times and movements, and the Maxwell-Boltzmann entropy. On the other hand, it is proposed to consider the adaptation of measurement ecis ecisión statistical procedures (decisión tree and set theory) and finally the implementation of a unitary probabilistic cube is proposed, which allows locating a subject immersed in the health process disease through three axes developed considering the definition of health stipulated by the WHO.

这项工作的目的是讨论量子力学的一些基础在健康-疾病过程中的重要性和可能的应用,并为此考虑到原子理论的规律和基础与人类在空间和时间上的位移是相同的。由于没有测量微观粒子的仪器,亚原子粒子在特定空间和时间内的位移无法确定,基于此,我们提出一个可行的建议,即人类在大空间内的时间和运动所产生的不确定性也会发生同样的情况,这就是为什么不可能在特定的时间和空间内对移动主体的时空位置进行分析的原因,我们认为这一事实可以代表大流行病学中的行为。量子力学的基础包括动态系统、薛定谔猫悖论、海森堡不确定性原理、气体、时间和运动定律以及麦克斯韦-玻尔兹曼熵。另一方面,建议考虑适应测量ecis ecisión统计程序(决策树和集合论),最后建议实施一个单元概率立方体,它允许通过考虑世卫组织规定的健康定义而开发的三个轴来定位沉浸在健康过程疾病中的主体。
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引用次数: 0
[Prevalence of the Phelan-McDermid Syndrome in Spain.] [西班牙菲兰-麦克德米德综合征的发病率]
IF 0.9 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Pub Date : 2020-12-21
Bárbara Gómez Taylor, Mari Luz Moreno Sancho, Eraci Drehmer Rieger, Sandra Carrera Juliá, Julián Nevado, Francisca Sempere Ferre

Objective: Phelan-McDermid syndrome is a rare genetic condition caused by a deletion of the terminal end of chromosome 22 in the 13.3 region, as well as, by point mutations within SHANK3 gene. The aims of this research were to determine the prevalence of the disease in the Spanish population, to establish the geographical distribution of the syndrome among the different autonomous communities, to elucidate the age range that affects more patients, to study the disease-sex relationship, as well as the age at diagnosis.

Methods: For the research, patients diagnosed with the disease for twelve years were recruited throughout the Spanish territory. The clinical patient information was obtained from the referral doctors using two standardized questionnaires completed with data from the medical reports and the interview with the parents. The molecular diagnosis of the disease was carried out using different formats of microarrays. Data were processed using Microsoft Excel and Statgraphics Centurion XVII.

Results: Currently in Spain there are 201 people diagnosed with the disease. Currently in Spain there are 201 people diagnosed with the disease, its prevalence being 4x10-4/10,000 inhabitants. The community with the most diagnosed patients was Madrid and there were no significant differences in terms of sex and disease, the mean age at diagnosis was around 6.67 years.

Conclusions: The prevalence of the disease in Spain is very low, and it can be stated that it is very likely that there are more people with this syndrome in the population.

研究目的菲兰-麦克德米综合征是一种罕见的遗传病,由 22 号染色体末端 13.3 区域缺失以及 SHANK3 基因点突变引起。这项研究的目的是确定该病在西班牙人口中的发病率,确定该综合征在不同自治区的地理分布,阐明影响较多患者的年龄范围,研究疾病与性别的关系以及诊断时的年龄:研究在西班牙全境招募了十二年来被诊断患有该病的患者。临床患者信息由转诊医生通过两份标准化问卷调查获得,问卷中的数据来自医疗报告和与家长的访谈。使用不同格式的芯片对疾病进行了分子诊断。数据使用 Microsoft Excel 和 Statgraphics Centurion XVII 进行处理:目前,西班牙共有 201 人被确诊患有该病。目前,西班牙有 201 人被确诊患有此病,发病率为 4x10-4/10,000。马德里是确诊患者最多的社区,在性别和疾病方面没有明显差异,确诊时的平均年龄约为 6.67 岁:结论:该疾病在西班牙的发病率非常低,可以说人口中很可能有更多的人患有这种综合征。
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引用次数: 0
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