Slovenia

斯洛文尼亚
  • 文章类型: Journal Article
    这项研究的主要目的,作为计划保护工作的一部分,是为了揭示本土生物膜的各个方面,这些生物膜与在斯洛文尼亚的石灰石RoanecMithraeum纪念碑上发生的许多恶化症状的形成有关。使用最先进的测序技术,将真菌生物组数据与通过大量光和光谱(FTIR和拉曼)显微镜分析进行的观察相结合,指出了上皮性地衣Gyalectajenensis及其光生物,富含类胡萝卜素的Trentepohliaaurea,作为石灰岩表面鲑鱼色色素变化的起源。此外,纪念碑上主要恶化症状的发展,即,活检,是由代表性的疣科科(Verrucariasp。)与草酸介导的石灰石溶解相结合。苔藓真菌的统治,作为主要的变质剂,在浮雕和周围的石灰石上,此外,在FUNGuild分析中,苔藓化和共生生物组的相对丰度较高。获得的结果不仅提高了人们对这种经常发生但经常被忽视的极端性石头遗产变质剂的认识,而且为开发适用于原位保存类似受影响的石灰石古迹的有效生物防治制剂提供了必要的基础。
    The primary purpose of the study, as part of the planned conservation work, was to uncover all aspects of autochthonous biofilm pertaining to the formation of numerous deterioration symptoms occurring on the limestone Rožanec Mithraeum monument in Slovenia. Using state-of-the-art sequencing technologies combining mycobiome data with observations made via numerous light and spectroscopic (FTIR and Raman) microscopy analyses pointed out to epilithic lichen Gyalecta jenensis and its photobiont, carotenoid-rich Trentepohlia aurea, as the origin of salmon-hued pigmented alterations of limestone surface. Furthermore, the development of the main deterioration symptom on the monument, i.e., biopitting, was instigated by the formation of typical endolithic thalli and ascomata of representative Verrucariaceae family (Verrucaria sp.) in conjunction with the oxalic acid-mediated dissolution of limestone. The domination of lichenized fungi, as the main deterioration agents, both on the relief and surrounding limestone, was additionally supported by the high relative abundance of lichenized and symbiotroph groups in FUNGuild analysis. Obtained results not only upgraded knowledge of this frequently occurring but often overlooked group of extremophilic stone heritage deteriogens but also provided a necessary groundwork for the development of efficient biocontrol formulation applicable in situ for the preservation of similarly affected limestone monuments.
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  • 文章类型: Journal Article
    目标:无烟政策保护非吸烟者免受吸烟的负面影响,但是许多年轻人仍然使用含有尼古丁的产品。本文旨在分析影响青少年对公共场所禁烟态度的因素。
    方法:数据来自捷克共和国进行的全球青年烟草调查(GYTS)中13-15岁的年轻人的代表性样本,立陶宛,罗马尼亚,斯洛伐克和斯洛文尼亚。采用Logistic回归分析计算比值比(ORs)和95%置信区间(CIs)。
    结果:至少有四分之一的青少年吸烟,大约40%的父母吸烟,超过50%的人声称他们有同龄人吸烟。较高比例的青少年了解二手烟的有害影响(62.6-71.9%),但是至少有五分之一的年轻人仍然受到烟草产品营销的影响。与目前吸烟相比,在所有五个被分析的国家中,那些从不吸烟的人与对限制吸烟的积极态度显着相关,AOR=4.74(95%CI:3.61-6.23),AOR=4.33(95%CI:2.32-8.07),AOR=2.85(95%CI:2.19-3.70)和AOR=2.45(95%CI:1.65-3.64),分别。性别,年龄,吸烟,接触二手烟,关于吸烟有害影响的知识,禁烟教育,看到人们使用烟草和接触烟草营销,与年轻人对公共场所限制吸烟的态度显着相关。
    结论:该研究提供了有关制定反吸烟策略时应考虑的因素的有用信息,以便年轻人能够抵抗使用烟草产品的压力。
    OBJECTIVE: Smoking-free policies protect non-smokers from the negative effects of smoking, but many young adults still use products containing nicotine. The aim of this article is to analyze the factors that influence young people\'s attitudes towards the ban on smoking in public places.
    METHODS: Data were obtained from a representative sample of young adults aged 13-15 from the Global Youth Tobacco Survey (GYTS) conducted in the Czech Republic, Lithuania, Romania, Slovakia and Slovenia. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs).
    RESULTS: At least a quarter of the adolescents were exposed to cigarette smoking, about 40% have parents who smoke and over 50% declared that they have peers who smoke. A higher proportion of adolescents have knowledge about the harmful effects of second-hand smoking (62.6-71.9%), but at least one-fifth of young people are still exposed to the marketing of tobacco products. Compared with current smoking, those with never smoked were significantly associated with positive attitude toward to restricting smoking in all five analyzed countries, with an AOR= 4.74 (95% CI: 3.61-6.23), AOR=4.33 (95% CI: 2.32-8.07), AOR=2.85 (95% CI: 2.19-3.70) and AOR=2.45 (95% CI: 1.65-3.64), respectively. Gender, age, smoking, exposure to second-hand smoke, knowledge about the harmful effects of smoking, anti-smoking education, seeing people using tobacco and exposure to tobacco marketing, were significantly associated with the attitudes of young people towards restricting smoking in public places.
    CONCLUSIONS: The study provides useful information on factors that should be taken into account when planning anti-smoking strategies so that young people are able to resist the pressure to use tobacco products.
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  • 文章类型: Journal Article
    背景:SI。菜单研究提供了有关10至17岁斯洛文尼亚青少年饮食摄入量的最新数据。这项研究的目的是全面评估他们的饮食摄入量(能量和营养素),并将他们的食物摄入量与健康和可持续饮食的饮食建议进行比较。
    方法:横断面流行病学饮食研究SI。菜单(2017年3月至2018年4月)对10至17岁的斯洛文尼亚青少年(n=468)(230名男性和238名女性)的代表性样本进行了分析。通过两次非连续的24小时召回收集了饮食摄入数据,符合欧洲食品安全局(EFSA)欧盟菜单方法。将重复的24小时饮食召回(HDR)和食物倾向问卷(FPQ)数据相结合,以确定营养素和食物组的通常摄入量,使用多源方法(MSM)程序。
    结果:青少年的饮食明显偏离饮食建议,缺少蔬菜,牛奶和乳制品,坚果和种子,豆类,和水,同时含有过量的肉类(尤其是红肉)和高糖食物。这导致膳食纤维摄入不足,和维生素D等营养素,叶酸,和钙。
    结论:斯洛文尼亚青少年的饮食摄入不符合健康和可持续饮食建议。这项研究为斯洛文尼亚青少年的饮食习惯提供了重要的见解,这可能对未来的公共卫生策略有用。
    BACKGROUND: The SI.Menu study offers the latest data on the dietary intake of Slovenian adolescents aged 10 to 17. The purpose of this study is to comprehensively assess their dietary intake (energy and nutrients) and compare their food intakes with dietary recommendations for healthy and sustainable diets.
    METHODS: The cross-sectional epidemiological dietary study SI.Menu (March 2017-April 2018) was conducted on a representative sample of Slovenian adolescents aged 10 to 17 years (n = 468) (230 males and 238 females). Data on dietary intake were gathered through two non-consecutive 24 h recalls, in line with the European Food Safety Authority (EFSA) EU Menu methodology. The repeated 24 h Dietary Recall (HDR) and Food Propensity Questionnaire (FPQ) data were combined to determine the usual intakes of nutrients and food groups, using the Multiple Source Method (MSM) program.
    RESULTS: Adolescents\' diets significantly deviate from dietary recommendations, lacking vegetables, milk and dairy products, nuts and seeds, legumes, and water, while containing excessive meat (especially red meat) and high-sugar foods. This results in insufficient intake of dietary fibre, and nutrients such as vitamin D, folate, and calcium.
    CONCLUSIONS: The dietary intake of Slovenian adolescents does not meet healthy and sustainable diet recommendations. This study provides an important insight into the dietary habits of Slovenian adolescents that could be useful for future public health strategies.
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  • 文章类型: Journal Article
    背景和目标:2019年冠状病毒病(COVID-19)预防措施影响了人们生活的各个方面,同时也是人们心理健康的重要危险因素。在本研究中,我们研究了预防措施对人们心理健康的负面心理后果,以及在大流行期间加强他们心理健康和福祉的保护因素。材料与方法:一项研究,使用基于德尔菲协议的定性和定量相结合的方法,与来自不同人口群体的人一起工作的斯洛文尼亚专业人士样本(即,儿童和青少年,新兴的成年人,成年劳动人口,老年人)在大流行期间。我们进行了(i)定性研究,涉及对11名专业人士的半结构化访谈,以及(ii)定量研究,其中73名专业人士完成了结构化的在线问卷。结果:专家们认识到非正式面对面的社会接触的破坏是对所有研究群体中人们生活影响最大的措施。这种影响在个人发展时期和社会人口特征方面尤为明显。在大流行期间,个人适应变化的能力以及家人或其他亲密人员提供的情感支持对维持心理健康和福祉做出了重要贡献。结论:考虑到各种COVID-19相关风险和保护因素对心理健康的相互作用,促进和维持和发展社会关系(包括通过替代途径)应该是所有人口群体(心理健康)干预的优先方面。
    Background and Objectives: The coronavirus disease 2019 (COVID-19) preventive measures affected various aspects of people\'s lives, while also representing an important risk factor for people\'s mental health. In the present study, we examined the negative psychological consequences of the preventive measures on people\'s mental health and the protective factors that strengthened their mental health and well-being during the pandemic. Materials and Methods: A study, using a combination of qualitative and quantitative methods based on a Delphi protocol, was conducted with a sample of Slovenian professionals who worked with people from different demographic groups (i.e., children and adolescents, emerging adults, the adult working population, the elderly) during the pandemic. We conducted (i) a qualitative study involving semi-structured interviews with 11 professionals and (ii) a quantitative study where 73 professionals completed a structured online questionnaire. Results: Experts recognized the disruption of informal face-to-face social contacts as the measure with the greatest impact on people\'s lives across all groups studied, the effect being particularly evident in relation to individuals\' development period and socio-demographic characteristics. An individual\'s ability to adapt to change and emotional support provided by family or other close persons contributed significantly to maintaining mental health and well-being during the pandemic. Conclusions: Considering the interplay of various COVID-19-related risk and protective factors for mental health, enabling and promoting the maintenance and development of social relationships (including through alternative pathways) should be a priority aspect of (mental health) intervention for all demographic groups.
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  • 文章类型: Journal Article
    背景和目的:口服避孕药(OCs)通常用于治疗子宫内膜异位症;关于过去是否使用OC的证据不一致,当给予无症状的女性时,对未来疾病的发展有保护作用。我们旨在评估OCs的使用与发现子宫内膜异位症的可能性之间的关系,考虑到OCs在其育龄期的时间长度。材料和方法:这是一所三级保健大学医院的单中心回顾性队列研究(人类生殖系,妇产科科,卢布尔雅那大学医学中心,斯洛文尼亚)于2012年1月至2022年12月进行。将计划进行腹腔镜手术治疗原发性不孕症并随后进行子宫内膜异位症的组织病理学诊断的生殖年龄女性与没有子宫内膜异位症诊断的女性进行比较。根据四个亚组中OC使用年限与肥沃年限的比率对它们进行分类:从不,<25%,在25%到50%之间,>50结果:总的来说,纳入1923名妇女(390名患有子宫内膜异位症和1533名无子宫内膜异位症)。子宫内膜异位症患者既往OC使用率高于对照组(72.31%vs.58.64%;p=0.001)。总的来说,既往使用OC与子宫内膜异位症的组织病理学诊断无关(aOR1.06[95%CI0.87-1.29]).未生育年龄25%使用OCs的女性患rASRMIII期子宫内膜异位症的风险降低(aOR0.50[95%CI0.26-0.95];p=0.036)或表面植入物(aOR0.88[95%CI0.58-0.95];p=0.040)。其他rASRM阶段没有检索到显著结果。使用<25%的OC,在25%到50%之间,或>50%的生育年龄没有增加患浅表子宫内膜异位症的风险,子宫内膜瘤,或死亡。结论:当OCs至少使用一次时,子宫内膜异位症的组织学诊断没有增加。当用于小于25%的育龄时,OC对表面植入物可能存在保护作用。由于与研究的局限性相关的限制,需要前瞻性研究来证实这些发现。
    Background and Objectives: Oral contraceptives (OCs) are usually used to treat endometriosis; however, the evidence is inconsistent about whether OC use in the past, when given to asymptomatic women, is protective against the development of future disease. We aimed to assess the relationship between the use of OCs and the likelihood of discovering endometriosis, considering the length of time under OCs during their fertile age. Materials and Methods: This was a monocentric retrospective cohort study in a tertiary-care University Hospital (Department of Human Reproduction, Division of Gynaecology and Obstetrics, University Medical Centre Ljubljana, Slovenia) carried out from January 2012 to December 2022. Reproductive-aged women scheduled for laparoscopic surgery for primary infertility and subsequent histopathological diagnosis of endometriosis were compared to women without an endometriosis diagnosis. They were classified based on the ratio of years of OC use to fertile years in four subgroups: never, <25%, between 25 and 50%, and >50. Results: In total, 1923 women (390 with and 1533 without endometriosis) were included. Previous OC use was higher in those with endometriosis than controls (72.31% vs. 58.64%; p = 0.001). Overall, previous OC usage was not related to histopathological diagnosis of endometriosis (aOR 1.06 [95% CI 0.87-1.29]). Women who used OCs for less than 25% of their fertile age had reduced risk of rASRM stage III endometriosis (aOR 0.50 [95% CI 0.26-0.95]; p = 0.036) or superficial implants (aOR 0.88 [95% CI 0.58-0.95]; p = 0.040). No significant results were retrieved for other rASRM stages. Using OCs for <25%, between 25 and 50%, or >50% of fertile age did not increase the risk of developing superficial endometriosis, endometriomas, or DIE. Conclusions: When OCs are used at least once, histological diagnoses of endometriosis are not increased. A protective effect of OCs when used for less than 25% of fertile age on superficial implants may be present. Prospective research is needed to corroborate the findings due to constraints related to the study\'s limitations.
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  • 文章类型: Journal Article
    这项研究的目的是评估14年(2006-2019年)在医院和不同部门使用抗生素的情况,以及与此相关的各种国家活动的影响。包括全身使用抗生素的国家审计。斯洛文尼亚所有医院(n=29)和五个部门(内科,手术,ICU(医学,手术),收集儿科和妇科/产科)。医院总消耗量表示为每天每1000名居民(DID)的规定每日剂量(DDDs)数量,DDDs数/100床位天数和DDDs数/100入院数。超过14年,J01医院消费增长13.8%,以DDDs/100床日表示(p=0.002)。2019年,与2006年相比,J01的消费量以DDD/100床天表示,所有部门从19.9%增加到33.1%,除了重症监护病房.除儿科病房外,以DDD/100入院表示的J01消耗量增加了7.0%至39.4%(减少了12.7%)。在所有的岁月里,我们观察到同一类型科室的抗生素消费量差异很大.旨在优化抗生素消费的审计干预措施的有效性在医院间表现出显著差异,与综合医院相比,专业设施通常表现出更好的结果。
    The aim of this study was to assess the use of antibiotics in hospitals and different departments over 14 years (2006-2019) and the impact of various national activities related to this, including national audits of the use of antibiotics for systemic use. The consumption of antibiotics for systemic use (J01) from all Slovenian hospitals (n = 29) and five departments (internal medicine, surgery, ICU (medicine, surgery), paediatrics and gynaecology/obstetrics) was collected. Total hospital consumption was expressed as the number of defined daily doses (DDDs) per 1000 inhabitants per day (DID), the number of DDDs/100 bed days and the number of DDDs/100 admissions. Over 14 years, J01 hospital consumption increased by 13.8%, expressed in DDDs/100 bed days (p = 0.002). In 2019, compared to 2006, the consumption of J01, expressed in DDD/100 bed days, increased from 19.9% to 33.1% in all departments, except intensive care units. J01 consumption expressed in DDD/100 admissions increased by 7.0% to 39.4% in all but paediatric wards (where it decreased by 12.7%). In all years, we observed large variations in the consumption of antibiotics in departments of the same type. The effectiveness of audit interventions aimed at optimizing antibiotic consumption exhibited notable variation across hospitals, with specialized facilities generally demonstrating superior outcomes compared to general hospitals.
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  • 文章类型: Systematic Review
    高甘油三酯血症(HTG)是一种由遗传和环境因素引起的复杂疾病,通常是由编码脂蛋白脂肪酶(LPL)的基因功能丧失变体引起的。杂合患者有一系列症状,而纯合子LPL缺乏表现为包括急性胰腺炎在内的严重症状,黄色瘤,和血脂视网膜。
    我们描述了三名斯洛文尼亚患者的临床特征(一名8岁女性,一个18岁的男人,和一名57岁女性)和一名LPL缺乏症的巴基斯坦患者(一名59岁男性)。我们进行了针对LPL基因的所有编码外显子和内含子-外显子边界的下一代测序(NGS),和Sanger测序进行变异确认。此外,我们对所有病例进行了系统的文献综述,并描述了其临床特征.
    两名患有杂合致病变异NM_000237.3:c.984G>T的斯洛文尼亚患者(p。Met328Ile)在生命的前三年内被诊断出,甘油三酯(TG)值为16和20mmol/L。一名无症状的巴基斯坦患者,其TG值为36.8mmol/L,直到44岁,被鉴定为致病性变体NM_000237.3的杂合:c.724G>A(p。Asp242Asn)。通过饮食调整和使用贝特类药物,他的TG水平降至12.7mmol/L。一名斯洛文尼亚患者在18岁时首次患有胰腺炎,TG值为34mmol/L,被发现NM_000237.3纯合:c.337T>C(pTrp113Arg)。
    LPL缺乏症患者在诊断时TG水平高。纯合子患者的预后较差。良好的饮食和药物依从性可以减轻严重程度。
    UNASSIGNED: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis.
    UNASSIGNED: We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the LPL gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics.
    UNASSIGNED: Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg).
    UNASSIGNED: Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity.
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  • 文章类型: Journal Article
    这项研究解决了对导管内乳头状粘液性肿瘤(IPMNs)的准确诊断和管理的关键需求,这是胰腺囊性肿瘤类型,具有相当大的恶性肿瘤潜力。它评估了福冈共识指南和欧洲循证指南在检测IPMNs中的高级别异型增生/浸润性癌的诊断有效性,利用来自两个欧洲医疗中心的113例患者的回顾性分析。方法包括临床比较分析,放射学,超声内镜数据,以及对指南驱动的诊断性能的评估。结果表明,这两个指南在识别IPMN的严重疾病阶段方面提供了相似的准确性,某些临床标志物,如黄疸,固体物质的存在,和CA19-9水平的升高-在预测手术干预的需要方面至关重要。本研究得出的结论是,虽然这两项指南都为IPMN管理提供了有价值的框架,对于进一步研究以完善这些方案和改进患者特异性治疗策略的内在需求.这项研究有助于正在进行的关于优化胰腺囊性肿瘤的诊断和治疗范例的讨论,旨在提高临床结果和病人护理在这个具有挑战性的医疗领域。
    This study addresses the critical need for the accurate diagnosis and management of intraductal papillary mucinous neoplasms (IPMNs), which are pancreatic cystic neoplasm types holding a substantial potential for malignancy. It evaluates the diagnostic effectiveness of the Fukuoka consensus guidelines and the European evidence-based guidelines in detecting high-grade dysplasia/invasive carcinoma in IPMNs, utilizing a retrospective analysis of 113 patients from two European medical centers. The methods include a comparative analysis of clinical, radiological, and endoscopic ultrasonography data, alongside an assessment of guideline-driven diagnostic performance. The results demonstrate that both guidelines offer similar accuracy in identifying severe disease stages in IPMNs, with certain clinical markers-such as jaundice, solid mass presence, and an increase in CA 19-9 levels-being pivotal in predicting the need for surgical intervention. This study concludes that while both guidelines provide valuable frameworks for IPMN management, there is an inherent need for further research to refine these protocols and improve patient-specific treatment strategies. This research contributes to the ongoing discourse on optimizing diagnostic and treatment paradigms for pancreatic cystic neoplasms, aiming to enhance clinical outcomes and patient care in this challenging medical field.
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  • 文章类型: Journal Article
    背景:新型抗人表皮生长因子受体2(HER2)抗体-药物缀合物带来的最新证据正在导致HER2阴性乳腺癌(BC)最佳实践的显着变化。在先前分类为“HER2阴性”的肿瘤中,已鉴定出一种新的可靶向类别,称为“HER2低”。病理学和医学肿瘤学的日常实践预计将符合当前的建议,但是,由于当地的挑战,患者跨地区获得新型抗癌药物可能会受到阻碍。
    方法:在四个中欧和东欧(CEE)国家(保加利亚,克罗地亚,塞尔维亚,斯洛文尼亚)举行。本文总结了HER2低转移性BC(mBC)的研究现状,本地挑战,和行动计划,以防止患者根据专家意见获得测试和治疗的延误。
    结果:发现了四个国家在多个层面上的差距和差异。这些包括当地HER2低流行病学数据的变异性,病理实验室和质量控制认证,以及HER2阴性mBC的检测和抗癌药物的报销条件。虽然临床决策与使用的国际准则一致,由于报销或有限的报销条件的严重延误,获得测试和创新治疗的最佳途径受到限制。
    结论:防止低HER2mBC患者延迟获得诊断和新治疗对优化结果至关重要。需要多学科的共同努力以及临床医生和决策者之间的积极讨论,以改善CEE国家HER2低mBC患者的护理。
    BACKGROUND: Recent evidence brought by novel anti-human epidermal growth factor receptor 2 (HER2) antibody-drug conjugates is leading to significant changes in HER2-negative breast cancer (BC) best practices. A new targetable category termed \'HER2-low\' has been identified in tumors previously classified as \'HER2-negative\'. Daily practice in pathology and medical oncology is expected to align to current recommendations, but patient access to novel anticancer drugs across geographies might be impeded due to local challenges.
    METHODS: An expert meeting involving ten regional pathology and oncology opinion leaders experienced in BC management in four Central and Eastern Europe (CEE) countries (Bulgaria, Croatia, Serbia, Slovenia) was held. Herein we summarized the current situation of HER2-low metastatic BC (mBC), local challenges, and action plans to prevent delays in patient access to testing and treatment based on expert opinion.
    RESULTS: Gaps and differences at multiple levels were identified across the four countries. These included variability in the local HER2-low epidemiology data, certification of pathology laboratories and quality control, and reimbursement conditions of testing and anticancer drugs for HER2-negative mBC. While clinical decisions were aligned to international guidelines in use, optimal access to testing and innovative treatment was restricted due to significant delays in reimbursement or limitative reimbursement conditions.
    CONCLUSIONS: Preventing delays in HER2-low mBC patient access to diagnosis and novel treatments is crucial to optimize outcomes. Multidisciplinary joint efforts and pro-active discussions between clinicians and decision makers are needed to improve care of HER2-low mBC patients in CEE countries.
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  • 文章类型: Journal Article
    SARS-CoV-2的出现和迅速传播促使全球社会确定了诊断感染和对病毒基因组进行测序的创新方法,因为在大流行阳性病例的几个点,其数量超过了实验室表征足够样本以充分响应新出现的变异的传播的能力。从2020年第10周到2023年第13周,斯洛文尼亚常规全基因组测序(CGS)监测网络产生了41.537个完整基因组,并揭示了典型的分子流行病学,早期谱系逐渐被Alpha取代,Delta,最后是Omicron.我们通过样本合并和选择性SARS-CoV-2尖峰基因扩增与个体病例的CGS相结合,开发了一种基于靶向下一代测序的变异监测策略,称为SpikeScreen,以提高吞吐量和成本效益。SpikeScreen可识别关注变体(VOC)和感兴趣变体(VOI)特征突变,分析它们在样本池中的频率,并计算人口水平的VOCs/VOIs数量。在通过CGS确认之前,该策略已成功应用于检测特定的VOC/VOI突变。SpikeScreen补充了CGS的工作,在两个时间段内进行了额外的22.897个样本测序:2020年第42周和2021年第24周之间,以及2021年第37周和2022年第2周之间。结果表明,SpikeScreen可以通过在人群水平上可靠,快速地检测新的变异,在测序能力有限的环境中,应用于监测大量样品中的VOC/VOI突变,并可以作为公共卫生政策规划的基础。
    The emergence and rapid spread of SARS-CoV-2 prompted the global community to identify innovative approaches to diagnose infection and sequence the viral genome because at several points in the pandemic positive case numbers exceeded the laboratory capacity to characterize sufficient samples to adequately respond to the spread of emerging variants. From week 10, 2020, to week 13, 2023, Slovenian routine complete genome sequencing (CGS) surveillance network yielded 41 537 complete genomes and revealed a typical molecular epidemiology with early lineages gradually being replaced by Alpha, Delta, and finally Omicron. We developed a targeted next-generation sequencing based variant surveillance strategy dubbed Spike Screen through sample pooling and selective SARS-CoV-2 spike gene amplification in conjunction with CGS of individual cases to increase throughput and cost-effectiveness. Spike Screen identifies variant of concern (VOC) and variant of interest (VOI) signature mutations, analyses their frequencies in sample pools, and calculates the number of VOCs/VOIs at the population level. The strategy was successfully applied for detection of specific VOC/VOI mutations prior to their confirmation by CGS. Spike Screen complemented CGS efforts with an additional 22 897 samples sequenced in two time periods: between week 42, 2020, and week 24, 2021, and between week 37, 2021, and week 2, 2022. The results showed that Spike Screen can be applied to monitor VOC/VOI mutations among large volumes of samples in settings with limited sequencing capacity through reliable and rapid detection of novel variants at the population level and can serve as a basis for public health policy planning.
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