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Healthcare professionals' knowledge, attitudes and future expectations towards personalized medicine. 医疗保健专业人员对个性化医疗的知识、态度和未来期望。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-08-18 DOI: 10.2217/pme-2020-0185
Tayachew Admas, Aklilu Banjaw

Aim: Personalized medicine (PM) is a novel approach to diagnose and treat disease. The study assessed the knowledge, attitudes and future expectations of healthcare professionals (HPs) towards PM in Ethiopia. Materials & methods: A cross-sectional survey with primary data and a simple random sampling technique was applied to collect data. Results: Our study revealed from a total of 384 respondents, 98 (25.5%), 146 (38%) and 140 (36.5%) had good, medium and poor knowledge of PM, respectively. However, 172 (44.8%), 185 (48.2%) and 27 (7%) had positive, neutral and negative attitudes towards PM, respectively. Conclusion: Most respondent's future expectations of PM were positive. Education level had a significant association with attitudes and other sociodemographic variables were not significant for both knowledge and attitude.

目的:个性化医疗是一种诊断和治疗疾病的新方法。该研究评估了埃塞俄比亚医疗保健专业人员(hp)对PM的知识、态度和未来期望。材料与方法:采用原始资料横断面调查和简单随机抽样技术收集资料。结果:384名被调查者中,有98人(25.5%)、146人(38%)和140人(36.5%)对PM有良好、中等和较差的认识。172人(44.8%)、185人(48.2%)和27人(7%)对PM持正面、中性和负面态度。结论:大多数受访者对PM的未来期望是积极的。教育程度对态度有显著影响,其他社会人口学变量对知识和态度均无显著影响。
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引用次数: 1
A GRIN3A polymorphism may be associated with glucocorticoid-induced symptomatic osteonecrosis in children with acute lymphoblastic leukemia. GRIN3A多态性可能与急性淋巴细胞白血病儿童糖皮质激素诱导的症状性骨坏死有关。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-08-18 DOI: 10.2217/pme-2020-0167
Nathalie K Zgheib, Habib El-Khoury, Dimitri Maamari, Maya Basbous, Raya Saab, Samar A Muwakkit

Aim: To evaluate the association between candidate genetic polymorphisms and glucocorticoid-induced osteonecrosis in Arab children treated for acute lymphoblastic leukemia. Methods: A total of 189 children treated for acute lymphoblastic leukemia were genotyped for four SNPs with allele discrimination assays. The incidence and timing of radiologically confirmed symptomatic grade 4 osteonecrosis were classified based on the Ponte di Legno toxicity working group consensus definition. Results: Thirteen children developed grade 4 osteonecrosis (6.8%), of whom 12 received the intermediate/high-risk treatment protocol. GRIN3A variant allele carriers had to stop dexamethasone therapy earlier resulting in significantly shorter duration of dexamethasone treatment (mean [95% CI]: 75.17 [64.28-86.06] vs 85.90 [81.22-90.58] weeks; p = 0.054) and lower cumulative dose (mean [95% CI]: 1118.11 [954.94-1281.29] vs 1341.14 [1264.17-1418.11] mg/m2; p = 0.011). Conclusion: This is the first pharmacogenomics evaluation of the association between GRIN3A variants and glucocorticoid-induced osteonecrosis in Arab children.

目的:探讨阿拉伯儿童急性淋巴细胞白血病患者候选基因多态性与糖皮质激素诱导骨坏死的关系。方法:对189例急性淋巴细胞白血病患儿进行4个snp的等位基因分型。根据Ponte di Legno毒性工作组共识定义,放射学证实的症状性4级骨坏死的发生率和时间进行分类。结果:4级骨坏死患儿13例(6.8%),其中12例接受中高危治疗方案。GRIN3A变异等位基因携带者必须更早停止地塞米松治疗,导致地塞米松治疗持续时间显著缩短(平均[95% CI]: 75.17 [64.28-86.06] vs 85.90[81.22-90.58]周;p = 0.054)和较低的累积剂量(平均[95% CI]: 1118.11 [954.94- 128.29] vs 1341.14 [1264.17-1418.11] mg/m2;p = 0.011)。结论:这是首次对GRIN3A变异与阿拉伯儿童糖皮质激素诱导的骨坏死之间关系的药物基因组学评估。
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引用次数: 2
After decades, RAS mutation has finally become a therapeutic target. 几十年后,RAS突变终于成为治疗靶点。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-10-18 DOI: 10.2217/pme-2021-0015
Nabih Naim, Sara Moukheiber, Karim Jaber, Hampig Raphael Kourie
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引用次数: 0
Prevalence of protective haplotypes of the SLCO1B1 gene for statin transport in Mexican populations. SLCO1B1基因他汀类转运保护性单倍型在墨西哥人群中的患病率。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-10-22 DOI: 10.2217/pme-2020-0172
Alma Faviola Favela-Mendoza, Brenda Guadalupe Rodríguez-Rodríguez, Eduardo Rojas-Prado, Mariana Chávez-Arreguin, José Alonso Aguilar-Velázquez, Gabriela Martínez-Cortés, Héctor Rangel-Villalobos

Aim: To evaluate the genetic distribution of the rs4149056 and rs2306283 variants in the SLCO1B1 gene in Mexican Mestizo (admixed) and Native American groups. Materials & methods: We recruited 360 volunteers who were qPCR-genotyped with TaqMan probes. Results: Allele and genotype frequencies are reported. Among the expected rs4149056-rs2306283 haplotypes, T-A (42.35-58.47%) was the most prevalent which relates to the normal activity of the OATP1B1 transporter. This was followed by the T-G haplotype associated with further statin transport and cholesterol reduction (32.49-43.76%). Conclusion: Based on these SLCO1B1 gene variants, we confirmed that a minimum fraction of the Mexican study populations would be at risk from decreasing simvastatin transport and the development of statin-induced myopathy.

目的:探讨墨西哥混血儿和美洲原住民SLCO1B1基因rs4149056和rs2306283变异的遗传分布。材料与方法:我们招募了360名志愿者,使用TaqMan探针进行qpcr基因分型。结果:报告了等位基因和基因型频率。在预期的rs4149056-rs2306283单倍型中,T-A(42.35-58.47%)最为普遍,这与OATP1B1转运体的正常活性有关。其次是与他汀类药物转运和胆固醇降低相关的T-G单倍型(32.49% -43.76%)。结论:基于这些SLCO1B1基因变异,我们证实了墨西哥研究人群中最小比例的辛伐他汀转运减少和他汀诱导肌病发展的风险。
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引用次数: 0
Clinical significance of serum miR-101-3p expression in patients with neonatal sepsis. 新生儿脓毒症患者血清miR-101-3p表达的临床意义
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-10-06 DOI: 10.2217/pme-2020-0182
Juan Zhang, Xinwei Xu, Min Wang

Aim: This study aimed to evaluate the levels and functions of miR-101-3p in neonatal sepsis (NS). Materials & methods: Quantitative real-time PCR was conducted to investigate the expression of miR-101-3p and the receiver operating characteristic curve was applied to manifest its diagnostic effects. Results:miR-101-3p was increased in the NS patients and the dysregulation of miR-101-3p was associated with levels of procalcitonin, CRP, IL-8 and TNF-α. The combination of miR-101-3p and procalcitonin could function as a promising indicator in distinguishing NS patients. The silenced miR-101-3p reversed the increased levels of TNF-α and IL-8 caused by lipopolysaccharide in vitro. DUSP1 was identified as a direct target gene of miR-101-3p in NS. Conclusion: The abundance of miR-101-3p facilitated the inflammation in NS by targeting DUSP1.

目的:本研究旨在探讨miR-101-3p在新生儿脓毒症(NS)中的表达水平及功能。材料与方法:采用实时荧光定量PCR检测miR-101-3p的表达情况,并采用受试者工作特征曲线来体现其诊断效果。结果:miR-101-3p在NS患者中升高,miR-101-3p失调与降钙素原、CRP、IL-8、TNF-α水平相关。miR-101-3p与降钙素原的联合表达可作为鉴别NS患者的一个有希望的指标。沉默的miR-101-3p在体外逆转脂多糖引起的TNF-α和IL-8水平升高。DUSP1被鉴定为NS中miR-101-3p的直接靶基因。结论:miR-101-3p丰度通过靶向DUSP1促进NS炎症。
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引用次数: 7
Personalized therapy: can it tame the COVID-19 monster? 个性化疗法:它能驯服 COVID-19 怪兽吗?
IF 1.7 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-10-15 DOI: 10.2217/pme-2021-0077
Mohd Arish, Farha Naz

SARS-CoV-2, a recently emerged zoonotic virus, has resulted in unstoppable high morbidity and mortality rates worldwide. However, due to a limited knowledge of the dynamics of the SARS-CoV-2 infection, it has been observed that the current COVID-19 therapy has led to some clinical repercussions. We discuss the adverse effects of drugs for COVID-19 primarily based on some clinical trials. As therapeutic efficacy and toxicity of therapy may vary due to different, genetic determinants, sex, age and the ethnic background of test subjects, hence biomarker-based personalized therapy could be more appropriate. We will share our thoughts on the current landscape of personalized therapy as a roadmap to fight against SARS-CoV-2 or another emerging pathogen.

SARS-CoV-2 是一种新近出现的人畜共患病毒,在全球范围内造成了难以阻挡的高发病率和高死亡率。然而,由于对 SARS-CoV-2 感染的动态了解有限,人们发现目前的 COVID-19 疗法已导致一些临床反响。我们主要根据一些临床试验来讨论 COVID-19 药物的不良反应。由于受试者的基因、性别、年龄和种族背景不同,疗效和毒性也可能不同,因此基于生物标志物的个性化疗法可能更为合适。我们将分享我们对当前个性化疗法的看法,以此作为对抗 SARS-CoV-2 或其他新兴病原体的路线图。
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引用次数: 0
The role of miR-101 in esophageal and gastric cancer. miR-101在食管癌和胃癌中的作用。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-09-01 Epub Date: 2021-08-17 DOI: 10.2217/pme-2021-0024
Athanasios Syllaios, Stratigoula Sakellariou, Nikolaos Garmpis, Eleni Sarlani, Christos Damaskos, Konstantinos Apostolou, Stylianos Kykalos, Maria Gazouli, Ioannis Karavokyros, Dimitrios Schizas

miR-101 is downregulated in various types of cancer, leading to the notion that miR-101 acts as a suppressor in cancer cell progression. The comprehensive mechanisms underlying the effects of miR-101 and the exact role of miR-101 dysregulations in esophagogastric tumors have not been fully elucidated. This review aims to summarize all current knowledge on the association between miR-101 expression and esophagogastric malignancies and to clarify the pathogenetic pathways and the possible prognostic and therapeutic role of miR-101 in those cancer types. miR-101 seems to play crucial role in esophageal and gastric cancer biology and tumorigenesis. It could also be a promising novel diagnostic and therapeutic target, as well as it may serve as a significant predictive biomarker in esophagogastric cancer.

miR-101在各种类型的癌症中下调,导致miR-101在癌细胞进展中起抑制作用的概念。miR-101作用的综合机制以及miR-101失调在食管胃肿瘤中的确切作用尚未完全阐明。本综述旨在总结目前关于miR-101表达与食管胃恶性肿瘤之间关系的所有知识,并阐明miR-101在这些癌症类型中的发病途径以及可能的预后和治疗作用。miR-101似乎在食管癌和胃癌的生物学和肿瘤发生中起着至关重要的作用。它也可能是一个有前景的新的诊断和治疗靶点,并可能作为一个重要的预测食管胃癌的生物标志物。
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引用次数: 4
Association of NQO1Pro187Ser polymorphism with clinical outcomes and survival of lung cancer patients treated with platinum chemotherapy. NQO1Pro187Ser多态性与铂类化疗肺癌患者临床结局和生存期的关系
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-07-01 Epub Date: 2021-05-11 DOI: 10.2217/pme-2020-0119
Harleen Kaur Walia, Navneet Singh, Siddharth Sharma

Background: The study was carried out to evaluate the association of NQO1 P187S polymorphism in North Indian lung cancer (LC) patients. We determined the effect of this polymorphic variant on the survival of LC patients. Patients & methods/results: This case-control study comprised a total of 1100 subjects. The genotyping was carried out using PCR-RFLP and statistical analysis was carried out. The variant TT genotype exhibited 3.5-fold higher odds in subjects with stage III (p = 0.0006), fivefold higher odds of lymph-node invasion (p = 0.007) and an odd of <1 in case of metastasis (p = 0.0028). Patients possessing TT genotype and administered with paclitaxel, exhibited a poor survival (3.57 vs 12.20 months; hazard ratio = 7.95; p = 0.0098). Conclusion: These results suggest that NQO1 variant genotype was not found to modulate risk toward LC. However, the variant genotype was found to be strongly correlated with stage III LC, lymph node invasion and was found to be positively correlating with metastasis.

背景:本研究旨在评估NQO1 P187S多态性与北印度肺癌(LC)患者的相关性。我们确定了这种多态变异对LC患者生存的影响。患者及方法/结果:本病例对照研究共纳入1100名受试者。采用PCR-RFLP进行基因分型并进行统计学分析。TT变异基因型在III期患者中表现出3.5倍的高概率(p = 0.0006), 5倍的高概率(p = 0.007)和奇数的高概率(p = 0.007)。结论:这些结果表明NQO1变异基因型未发现调节LC的风险。然而,变异基因型被发现与III期LC、淋巴结侵袭密切相关,并与转移呈正相关。
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引用次数: 2
Developing new frameworks to value genomic information: accounting for complexity. 开发新的框架来评估基因组信息:计算复杂性。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-07-01 Epub Date: 2021-05-11 DOI: 10.2217/pme-2021-0023
Martin Eden
Current frameworks & their limitations Decisions have to be made about how to allocate the finite resources available to healthcare systems. Frameworks exist that can aid decisions about whether a new healthcare intervention should be approved for use in a healthcare system. These frameworks are typically underpinned by a formal approach to economic evaluation called cost– effectiveness analysis (CEA) and are primarily driven by the tenet that population health should be maximized. In a CEA, two or more interventions are assessed in terms of their costs and outcomes to determine the relative cost–effectiveness of an intervention compared with its alternatives. To enable comparisons between different types of healthcare interventions in a CEA, it is preferable to use a standard, common outcome measure: the qualityadjusted life-year (QALY). Mortality effects and quality of life attributable to ‘health’ are captured by the QALY with ‘health’ being narrowly defined by the scope of recommended survey tools such as the EQ-5D [1]. Generally speaking, the frameworks have proved useful for resource allocation decision making and have been successfully adopted in a number of jurisdictions across the world. There are, however, specific situations in which QALY-based frameworks, as currently applied, are inadequate. Notably, limitations have been identified where genomic information forms part of a complex intervention, for example, in precision medicine initiatives [2,3]. Interventions which utilize genomic information are complex, in that multiple elements combine to produce multifaceted outcomes. Importantly, these outcomes can extend beyond the confines of ‘health’ as conceptualized in the QALY.
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引用次数: 1
Ethics and equity in rare disease research and healthcare. 罕见病研究和保健中的伦理与公平。
IF 2.3 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pub Date : 2021-07-01 Epub Date: 2021-06-04 DOI: 10.2217/pme-2020-0144
Maria Koromina, Vasileios Fanaras, Gareth Baynam, Christina Mitropoulou, George P Patrinos
Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.
新一代测序技术的快速发展,特别是全外显子组测序和全基因组测序,极大地影响了我们对罕见遗传病遗传变异的理解。在此,我们描述了指导同意和基因组学研究数据共享的伦理原则。我们还讨论了罕见病研究和患者招募政策中的伦理困境,并解决了影响基因检测伦理框架的生物伦理和社会方面的问题。此外,我们注重解决中低收入国家研究的伦理问题。总的来说,这一观点旨在解决在进行涉及基因组学数据的研究时建立适当伦理框架的关键方面和问题,特别强调罕见疾病和遗传学测试。
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引用次数: 0
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Personalized medicine
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