Phenotype reveals genotype in a Greek long QT syndrome family.

We aimed to verify the long QT syndrome (LQTS) genotype in a family with strong evidence of LQTS type 1 (LQT1) on the basis of so far established genotype-phenotype correlations. Genetic testing for mutations in the KCNQ1 potassium channel gene revealed an A341V mutation in three generations of the family. Existing genotype-phenotype correlations were correctly predictive of the genotype in the case of this family, despite the fact that there are no previously reported data for the Greek LQTS genetic pool. Thus, genotype-phenotype correlations are often a helpful tool in the management of LQTS patients and their families.     

慢性乙型肝炎病人出现YMDD变异后继续长期应用拉米夫定的疗效

目的 观察慢性乙型肝炎病人出现YMDD变异后继续治疗的结果。方法 定期观察44例出现YMDD变异后继续长期应用拉米夫定的慢性乙型肝炎病人，项目包括临床表现、ALT、SB、乙型肝炎病毒血清学标志、HBV DNA及YMDD变异情况。结果 88例病人服拉米夫定3年，共有51例出现YMDD变异。48周、104周和168周YMDD变异率分别为21．7％、48％和68．4％。44例继续用药病人按变异后ALT的变化分为3组：ALT值＜1ULN（16例）、＞1－5ULN（21例）和＞5ULN（7例）；HBV DNA中位值分别为0．88、200．93和537．70mEq/ml；血清转换分别为7、1和1例。与无病毒变异组的血清转换率61．1％相比，变异后ALT正常组43．8％（P＞0．05），变异后ALT异常组为7．1％（P＜0．01）。结论 拉米夫定对大多数YMDD变异的慢性乙型肝病人仍有效，但须在严密监测下使用。     

Innominate artery aneurysm with thrombus: detection by two-dimensional echocardiography

A 51 year old man with an innominate artery aneurysm presented with claudication and ischemia of the right forearm and hand. Two-dimensional echocardiography visualized the saccular aneurysm and a pedunculated mobile thrombus within it that were not seen during aortic arch angiography. Two-dimensional echocardiography, shown to be useful in identifying intracardiac masses and aortic aneurysms, may be important in selecting patients with increased risk of embolization.     

长链非编码RNA SERTAD1-1在结直肠癌中的表达及意义

目的 探讨长链非编码RNA-癌基因SEI1-1（lnc-SERTAD1-1）对结直肠癌增殖、迁移及预后的影响。方法 选取125例结直肠癌患者的标本,检测癌组织和癌旁正常组织中lnc-SERTAD1-1的表达水平,分析lnc-SERTAD1-1与临床病理特征的相关性,分析lnc-SERTAD1-1对结直肠癌预后的影响。检测正常人结肠组织细胞CCD-18Co与人结直肠癌细胞HCT15中lnc-SERTAD1-1的表达。慢病毒转染构建含有目的基因lnc-SERTAD1-1过表达的HCT15（HO）及含有空白载体质粒的HCT15（HOC）,检测其lnc-SERTAD1-1以及SERTAD1蛋白的表达,并检测lnc-SERTAD1-1对结直肠癌细胞增殖和迁移能力的影响。结果 与癌旁正常组织比较,lnc-SERTAD1-1在结直肠癌组织（0.002 198±0.000 499 vs. 0.002 998±0.000 392,P < 0.001）和癌细胞（0.000 123±0.000 010 vs. 0.000 182±0.000 012,P = 0.004）中呈低表达水平 ;其表达高低与结直肠癌患者的肿瘤部位、肿瘤大小及肿瘤的大体分型相关（P均< 0.05）。在125例结直肠癌患者中,lnc-SERTAD1-1高表达（≥0.000 970）是其术后总生存及无病生存的独立保护因素（总生存HR = 0.228,95% CI：0.107 ~ 0.485,P < 0.001;无病生存HR = 0.228,95% CI：0.103 ~ 0.506,P < 0.001）。体外实验显示lnc-SERTAD1-1表达上调能抑制结直肠癌细胞的增殖和迁移（P均< 0.05）。结论 lnc-SERTAD1-1通过抑制结直肠癌细胞的增殖和迁移发挥抑癌基因的作用,是结直肠癌重要的预后影响因素。     

大面积烧伤患者呕吐长条索状血凝块一例

大面积烧伤患者并发应激性溃疡出血较常见,该文报道1例在烧伤20余日后呕吐暗红色长条索状物质的患者,行急诊胃镜检查可见食管全段至胃幽门部黏膜充血明显,大量鲜红色血性液,于食道中下段见大片黏膜脱落,考虑诊断为应激性溃疡出血、食管管型。长条索状物质送检后病理证实为混合性血栓,未见明确胃食管黏膜。该例烧伤患者并发应激性溃疡出血后呕吐暗红色长条索状物质,临床表现极为罕见。该文针对误诊和出现特殊临床表现的原因进行分析,旨在供广大临床医务人员共同学习,加强对烧伤后应激性溃疡出血预防的重视,减少误诊,提高早期发现、诊治该病在特殊异常情况下的能力。     

Patients réfractaires aux soins : quelle évolution après le suivi intensif d’une équipe mobile de psychiatrie ?

ObjectivesBeneficial effects of Assertive Community Treatment (ACT) programs on patients with severe mental disorders are well established over short or medium term. However, studies that investigate long term clinical and psychosocial outcomes are remarkably scarce, and it is not known whether the support and intensive care delivered by these programs maintain their benefits over time, especially after discharge. Thus, the present study sought further understanding on this issue by evaluating long term clinical and psychosocial evolution of patients who had been treated by an ACT team in 2007. We investigated the nature of treatment interventions and the level of care since discharge from ACT, especially in terms of adherence to care and number of psychiatric hospitalizations. We also examined factors, at inclusion in the ACT program and after six months of treatment, that could predict better long-term outcomes.MethodsTwenty-nine patients with severe mental disorders, characterized by the heavy use of inpatient facilities and refusal of care, were treated by an ACT team which was implmented between 2007 and 2009. They participated at that time in an initial study on the effect of the program and were therefore assessed at inclusion and again after six months of treatment. Between 2016 and 2017, the present follow up took place and patients were assessed again on their current psychosocial functioning, quality of life and intensity of symptoms, using the same scales as those administered in the initial study. This design allowed us to compare baseline with “early” (after six months) and “late” (after a mean of 8.7 years) effects of ACT program on patients. In order to assess adherence to care since discharge from ACT, data on nature and level of psychiatric treatment was systematically reviewed, including all public and private inpatient and outpatient treatments since the end of the ACT program.ResultsDetailed tables on hospitalizations before, during and after ACT treatment are reported, as well as tables summarizing the level of care and nature of treatment since discharge from ACT. During the mean of 8.7 years of evolution and 6.3 years after discharge from ACT, these patients, characterized by severe mental disorders, heavy use of inpatient facilities and refusal of care, sustained a reduced rate of hospitalizations and a minor rate of disengagement from outpatient care (6.9 %). Both severity of symptoms, poorer quality of life and worst functioning in the community at inclusion (baseline) as well as early improvements (after six month of ACT treatment) of the same outcomes were significantly associated with long term improvements. Results also show other baseline predictors of long term improvement: fewer years since disorder onset was associated with improvement of functioning in the community; further advancement in the recovery process predicted better enhancement in quality of life, and a better initial functioning in the community was associated with a better improvement of symptomatology.ConclusionsThis study provides insight on the sustainability of the benefits of ACT programs, suggesting that these interventions can help patients who are refractory to care to gain clinical and psychosocial improvement in the long term. Our results also suggest that baseline severity as well as early improvements after six months of treatment were associated with larger improvement at follow up. These clinical predictors provide some help to distinguish which patients are more likely to benefit from an ACT approach.     

Thoracic imaging outcomes in COVID-19 survivors

The coronavirus disease 2019 (COVID-19) pandemic presents a significant global public health challenge. One in five individuals with COVID-19 presents with symptoms that last for weeks after hospital discharge, a condition termed “long COVID”. Thus, efficient follow-up of patients is needed to assess the resolution of lung pathologies and systemic involvement. Thoracic imaging is multimodal and involves using different forms of waves to produce images of the organs within the thorax. In general, it includes chest X-ray, computed tomography, lung ultrasound and magnetic resonance imaging techniques. Such modalities have been useful in the diagnosis and prognosis of COVID-19. These tools have also allowed for the follow-up and assessment of long COVID. This review provides insights on the effectiveness of thoracic imaging techniques in the follow-up of COVID-19 survivors who had long COVID.     

LncRNA Gm15621通过调控miR-133a/SOCS2轴抑制类风湿关节炎成纤维样滑膜细胞炎症

目的探讨lncRNA Gm15621和miR-133a在类风湿关节炎滑膜组织中的表达及其与滑膜组织中成纤维样滑膜细胞炎症调控的关系。方法于2018年1月到2018年12月收集53例类风湿关节炎滑膜组织和20例正常滑膜组织,通过qPCR技术检测不同患者滑膜组织Gm15621和miR-133a的表达情况,免疫印迹法检测滑膜成纤维细胞SOCS2等蛋白的表达情况。结果类风湿关节炎患者滑膜组织Gm15461表达水平是正常滑膜组织的(43.06±2.48)%,miR-133a表达水平是正常组织的(2.94±0.13)倍;类风湿关节炎患者滑膜组织Gm15621表达水平与血清TNF-α(r=-0.441,P=0.001 1),IL-6(r=-0.442,P=0.0017)和IL-1β(r=-0.532,P<0.001)呈负相关,与滑膜组织中miR-133a(r=-0.629,P<0.001)表达呈负相关。荧光素酶报告基因显示:Gm15621和SOCS2都是miR-133a的靶基因,且miR-133a靶向抑制成纤维样滑膜细胞Gm15621和SOCS2,Gm15621抑制成纤维样滑膜细胞中miR-133a的表达。在体外,SOCS2敲低可以显著上调成纤维样滑膜细胞中TNF-α,IL-6和IL-1β的表达。结论类风湿关节炎患者滑膜组织中Gm15621低表达,miR-133a高表达,并且Gm15621通过抑制成纤维样滑膜细胞中miR-133a的表达促进SOCS2的表达,最终发挥抑制炎症因子表达的效果。