Utilidad y fiabilidad de la ecografía clínica abdominal en medicina familiar (2): grandes vasos,bazo, nefrourológica y ginecológica

This article is a continuation of the review initiated in the previous issue about the usefulness of point of care ultrasound in Primary Care, completing the scenarios of large abdominal vessels, spleen, nephrourological and gynecological ultrasound.     

Utilidad y fiabilidad de la ecografía clínica abdominal en medicina familiar (1): hígado,vías biliares y páncreas

Ultrasound is a safe and reliable way to increase diagnosis capabilities, as well as an improving and speed up method for taking decisions for healthcare professionals of every medical specialty. Family doctor, who must be ready to address all kind of health problems for his patients, is the key person to incorporate this tool to his daily activity, acquiring the best managing skill, unknown nowadays, being quite large the clinical situations in the day by day practice, in which he can obtain benefit in a reliable and effective way.Due to this practice is explorer dependent, it's needed to assure the best competence of the professional who practice it, and define the benefits and potential risks its use can create, as well as its application scenarios, in order to avoid unnecessary explorations and minimize opportunity costs that this activity can add to a currently saturated agenda. This work pretends to summarize the current state of abdominal point of care ultrasound, and its utility for the family doctor, in those scenarios that can be potentially reliable and effective.     

靶向下调上皮细胞黏附分子对结直肠癌干细胞功能及药物敏感性的影响

目的研究靶向下调上皮细胞黏附分子(ECAM)对结直肠癌干细胞增殖、侵袭及药物敏感性的影响。方法用肿瘤微球法从人结直肠癌细胞系LoVo中获取结直肠癌干细胞,用结直肠癌干细胞表面特殊标志物[ECAM和人类细胞分化抗原44(CD44)]对其进行鉴定并进行后续研究。用lipofectamine 2000脂质体介导完成转染,根据处理方法不同将细胞分为3组:实验组(ECAM抑制组),对照组(转染公共抑制剂lipofectamine 2000-抑制剂),空白组(不作任何处理),并进行培养,取3组对数期的细胞分别给予几个浓度(1,5,10,15,20,25,30,35,40,45,50 mg·L^-1)伊立替康和几个浓度(50,100,150,200,250,300,350,400,450,500,550,600 mg·L^-1)卡培他滨,继续培养。用实时荧光定量检测用药前后3组细胞中ECAM mRNA的表达水平,用噻唑蓝(MTT)法检测用药前后3组细胞的增殖能力和药物敏感性,用Transwell小室检测3组细胞的侵袭能力。结果在富集前后的LoVo细胞系中,EpCAM^+CD44^+双阳结直肠癌干细胞的百分率分别是0.95%,85.78%,与富集前比较差异均有统计学意义(均P<0.05)。空白组、对照组和实验组中EpCAM mRNA的表达水平分别为8.17±0.64,7.94±0.83,2.16±0.12,对照组和实验组与空白组比较,差异均有统计学意义(P<0.05,P<0.01);实验组与对照组比较,差异有统计学意义(P<0.05),说明3组细胞构建成功。空白组、对照组和实验组中侵袭细胞分别为79.22±5.25,80.12±4.89,31.23±2.36。对照组和实验组与空白组比较,差异均有统计学意义(P<0.05,P<0.01);实验组与对照组比较,差异有统计学意义(P<0.05)。空白组、对照组与实验组的伊立替康对结直肠癌干细胞的IC₅₀分别为(20.25±4.35),(19.22±3.99),(10.24±2.04)mg·L^-1;这3组的卡培他滨对结直肠癌干细胞的IC₅₀分别为(320.13±23.65),(315.79±21.03),(250.22±15.45)mg·L^-1,实验组与对照组比较,差异有统计学意义(P<0.05)。结论靶向下调ECAM可以有效地抑制结肠癌干细胞增殖及侵袭能力,同时增强其对药物的敏感性。     

海洋青铜小单孢菌FIM 02-523全基因组测序及分析

青铜小单孢菌(Micromonospora chalcea, M. chalcea)FIM 02-523能够合成对乏氧肿瘤细胞、艰难梭菌等具有活性的环脂肽类化合物rakicidins。利用Illumina HiSeq高通量测序平台,本研究首次对M. chalcea FIM 02-523进行全基因组测序,得到总长约6.74Mb的序列信息。分析表明基因组GC含量为72.89%,包含了6167个蛋白编码序列。利用AntiSMASH预测基因组中存在19个生物合成基因簇。结合PKS/NRPS生物合成特征和rakicidins化学结构特点,定位到了rakicidins的生物合成基因簇,并初步推测其生物合成途径。研究为M. chalcea FIM 02-523的功能基因组学研究和代谢调控提供了理论基础。     

Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication

Effective communication, where all parties share a common understanding, is necessary to realize the promise of Genomic Medicine. It is especially salient given the imperative to increase the participation of diverse populations in genomics research and to expand the reach of clinical genomics. We have previously shown that cancer genetic counseling is suboptimal for patients with limited health literacy. To address this finding, we implemented a pilot study to improve verbal communication between genetic counselors and their patients of limited health literacy that consisted of: i) curriculum development and delivery of a Genetic Counselors (GC) communication workshop; ii) two-month post-workshop interviews with GC participants (n = 9); iii) observations/audio recordings of counseling sessions involving 24 patients and two GC workshop participants; iv) post-counseling interviews with patients (n = 9). The 4.5-h workshop presented evidenced-based principles and strategies for effective communication with limited health literacy patients (e.g. use of plain language and teach-back), and offered specific techniques and exercises to practice adoption of such practices in the genetic counseling context. GCs expressed appreciation for the opportunity to refine their skills; however, they reported that some strategies were challenging given their professional training and communication habits. For example, GCs were concerned that use of plain language could undermine efforts to obtain informed consent and provide scientifically accurate information. Observations and patient interviews after the workshop revealed that GCs were able to employ the communication strategies with positive effects, with patients indicating sufficient understanding of the genetic test and its implications as well as satisfaction with the counselors’ communication. While derived from research on communication with those of limited health literacy, the communication approaches taught in the GC workshop could benefit most patients, given the high rates of low health literacy in many countries, and the many factors beyond health literacy that can contribute to reduced comprehension in health care environments.     

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease

Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which carriers are at an increased risk of developing a variety of tumors in multiple organ systems. A clinical diagnosis of VHL is determined by the presence of specific clinical manifestations while a molecular genetic diagnosis results from a pathogenic variant in the VHL gene. The majority of mutations occur in VHL coding exons and DNA analysis of these regions has a reported sensitivity of nearly 100%. However, rare variants in the VHL gene promoter may be detected in some cases of suspected VHL disease. We report two cases where VHL promoter variants were detected and describe the role of multi-step mRNA and protein analysis in the diagnostic evaluation of these cases.     

Feasibility and Acceptability of a 3-Day Group-Based Digital Storytelling Workshop among Caregivers of Allogeneic Hematopoietic Cell Transplantation Patients: A Mixed-Methods Approach

Family caregivers are essential partners for patients undergoing hematopoietic cell transplantation (HCT). The caregiving role is emotionally, physically, and financially demanding. Intervention efforts to provide relief for caregiver stress during HCT are highly warranted. Storytelling interventions are accruing evidence for efficacy in therapeutic contexts. The purpose of this study was to conduct a 3-full consecutive day digital storytelling (DST) workshop to build knowledge on caregivers’ lived experiences during HCT, to pilot test DST with a small group of HCT caregivers, and to demonstrate feasibility and acceptability using qualitative and quantitative measures. Six adult caregivers of allogeneic HCT recipients (mean age, 60.2 years) attended a 3-day DST program (66% female, 83% white). All successfully created their personal audiovisual digital story (2 to 3 minutes long) and completed a survey. All participants rated the DST workshop as highly acceptable and therapeutic (mean score 5, on a scale of 1 to 5). Group discussions and interviews with participants further demonstrated high satisfaction and acceptability of the workshop format, setting, process, and structure. The survey results showed decreases in anxiety and depression from before to after the DST workshop with all participants showing change in the expected direction. This study demonstrates the feasibility and acceptability of a 3-day DST workshop as a distress-relieving tool for HCT caregivers. Future research is needed to test the efficacy of DST relative to a control condition.     

Cluster‐based permutation tests of MEG/EEG data do not establish significance of effect latency or location

Cluster‐based permutation tests are gaining an almost universal acceptance as inferential procedures in cognitive neuroscience. They elegantly handle the multiple comparisons problem in high‐dimensional magnetoencephalographic and EEG data. Unfortunately, the power of this procedure comes hand in hand with the allure for unwarranted interpretations of the inferential output, the most prominent of which is the overestimation of the temporal, spatial, and frequency precision of statistical claims. This leads researchers to statements about the onset or offset of a certain effect that is not supported by the permutation test. In this article, we outline problems and common pitfalls of using and interpreting cluster‐based permutation tests. We illustrate these with simulated data in order to promote a more intuitive understanding of the method. We hope that raising awareness about these issues will be beneficial to common scientific practices, while at the same time increasing the popularity of cluster‐based permutation procedures.