简介:AbstractBackground:The elimination of Plasmodium vivax malaria requires 8-aminoquinolines, which are contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency due to the risk of acute haemolytic anaemia. Several point-of-care devices have been developed to detect G6PD deficiency. The objective of the present study was to evaluate the performance of two of these devices against G6PD genotypes in Mauritania.Methods:Outpatients were screened for G6PD deficiency using CareStart™ rapid diagnostic test (RDT) and CareStart™ G6PD biosensor in Nouakchott, Mauritania, in 2019-2020. African-type and Mediterranean-type G6PD genotypes commonly observed in Africa were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing. Qualitative variables were compared using Fisher’s exact test.Results:Of 323 patients (74 males and 249 females), 5 males and 2 homozygous females had the African-type A-genotype: A-(202) in 3 males and 2 females and G6PD A-(968) in 2 males. Among heterozygous females, 13 carried G6PD A-(202), 12 G6PD A-(968), and 3 G6PD A-(542) variants. None had the Mediterranean-type G6PD genotype. Eight had a positive G6PD RDT result, including all 7 hemizygous males and homozygous females with A- or A-A- (0.12 to 2.34 IU/g haemoglobin, according to G6PD biosensor), but RDT performed poorly (sensitivity, 11.1% at the cutoff level of < 30%) and yielded many false negative tests. Thirty-seven (50.0%) males and 141 (56.6%) females were anaemic. The adjusted median values of G6PD activity were 5.72 and 5.34 IU/g haemoglobin in non-anaemic males (n = 35) and non-anaemic males and females (n = 130) with normal G6PD genotypes using G6PD biosensor, respectively. Based on the adjusted median of 5.34 IU/g haemoglobin, the performance of G6PD biosensor against genotyping was as follows: at 30% cut-off, the sensitivity and specificity were 85.7% and 91.7%, respectively, and at 80% cut-off, the sensitivity was 100% while the specificity was 64.9%.Conclusions:Although this pilot study supports the utility of biosensor to screen for G6PD deficiency in patients, further investigation in parallel with spectrophotometry is required to promote and validate a more extensive use of this point-of-care device in areas where P. vivax is highly prevalent in Mauritania.
简介:摘要目的调查和分析慢性肾脏病(chronic kidney disease, CKD)G3~G5期患者矿物质及骨代谢异常(mineral and bone disorder, MBD)状况,为CKD-MBD的早期诊治提供临床参考。方法对2014年8月至2019年8月期间于我院接受治疗的323例CKD G3~G5期非透析患者的矿物质及骨代谢相关指标(血清钙、磷、全段甲状旁腺激素、碱性磷酸酶等)进行回顾性分析。将入选患者分成CKD G3期组、CKD G4期组、CKD G5期组,比较各组间矿物质及骨代谢相关指标的差异,评估各组间低钙血症、高磷血症及高甲状旁腺激素水平的发生率。结果CKD G3、G4、G5期患者血磷浓度分别为(1.28±0.25)、(1.48±0.30)和(2.03±0.62)mmol/L(F= 81.51,P<0.01),高磷血症的发生率分别为25.56%、47.95%和83.75%。校正血钙浓度分别为(2.34±0.11)、(2.26±0.17)和(2.07±0.27)mmol/L(F=51.45,P<0.01),低钙血症的发生率分别为2.22%、9.59%和41.25%。全段甲状旁腺素浓度分别为(90.82±55.59)、(161.63± 143.55)和(282.02±162.04)ng/L(F=60.83,P<0.01),高甲状旁腺激素的发生率分别为56.67%、68.49%和38.13%。相关分析结果显示,全段甲状旁腺激素水平与血磷(r=0.32,P<0.01)呈正相关,与肾小球滤过率(r=-0.52,P<0.01)、校正血钙(r=-0.43,P<0.01)呈负相关。结论CKD G3期后随着肾小球滤过率的进行性下降,患者血磷、全段甲状旁腺激素逐渐升高,血钙逐渐降低。为更好地改善CKD患者的预后,提高患者生存质量,应加强对非透析中、晚期CKD患者的MBD进行早期监测及临床干预。
简介:摘要传统分析方法不能有效地控制纵向研究中的时依混杂以得到无偏因果效应估计值。本研究解释了纵向研究中正确控制时依混杂的必要性,概述了现有控制时依混杂的G方法——参数g-formula、逆概率加权和G估计,并通过比较它们的优缺点和适用情况,为研究者在纵向研究中估计因果效应提供参考。
简介:摘要G蛋白信号调节蛋白2是一种对G蛋白偶联受体信号通路具有负性调节功能的生物学分子,在细胞增殖、凋亡、有丝分裂、细胞周期等方面扮演重要的角色。笔者以G蛋白信号调节蛋白2的结构与生物学功能为切入点,就其在肿瘤组织中的表达及其与肿瘤诸多恶性生物学行为的关系展开综述,为今后将G蛋白信号调节蛋白2作为新的诊断标志物或治疗靶点提供新的思路。
简介:摘要目的血清GM试验联合G试验评估慢性阻塞性肺疾病急性加重期(AECOPD)患者病情严重程度的研究。方法回顾性研究。选取东营市东营区人民医院2018年1月至2020年3月住院治疗期间的AECOPD患者110例,进行GM试验及G试验,将血清半乳甘露聚糖水平>0.7 μg/L,1,3-β-D葡聚糖水平>200 ng/L的24例患者作为观察组,将血清半乳甘露聚糖水平<0.5 μg/L,1,3-β-D葡聚糖水平<50 ng/L的70例患者作为对照组,分别检测观察组与对照组在吸烟、合并症、吸入糖皮质激素用量、入院时症状、肺功能第1秒用力呼气容积占预计值百分比、用力肺活量占预计值百分比、实验室指标、使用抗生素治疗的种类及时间、病情缓解时间、住院时间、预后等方面的差异。结果观察组患者吸烟比例、合并慢性心力衰竭的情况均高于对照组(P值均<0.05)。观察组吸入倍氯米松用量>1 000 μg/d的患者比例(58.3%)高于对照组(34.3%);观察组出现喘憋症状及肺部哮鸣音的比例明显高于对照组;观察组肺功能第1秒用力呼气容积占预计值百分比明显低于对照组;观察组嗜酸粒细胞百分比高于5.0%的患者比例明显高于对照组、动脉血氧分压则较对照组明显下降;观察组使用超过1类抗生素治疗的比例明显高于对照组、治疗时间明显长于对照组;观察组病情缓解时间、住院时间明显较对照组长;此次住院期间观察组死亡患者比例明显高于对照组(P值均<0.05)。结论检测AECOPD患者血清半乳甘露聚糖水平及1,3-β-D葡聚糖水平,可帮助评估COPD伴有急性加重患者的病情严重程度、预估死亡风险。
简介:摘 要:[目的] 探讨产后出血教学培训模拟教学的思路及效果。[方法]通过对产后出血指南的分解,设定教学板块,通过SimMan3G模拟人进行教学过程场景设定,以产后出血速度及量为核心轴,通过建立对疾病发展、生命体征变化、治疗方法评价、治疗有效性评估等控制指标,实现对培训医生对不同板块的掌握。[结果] 通过对比分析,各级医务人员对知识的掌握程度均有显著提高。[结论] 对不同级别的医护人员进行培训,整体提高卫生技术人员的掌握水平,缩小不同级别人员间的差距,从而达到共同进步的目的。
简介:摘要免疫球蛋白(Ig)G4相关疾病(IgG4-RD)是一类由免疫系统介导的、可累及全身多器官的系统性疾病,常累及胰腺、涎腺、泪腺、胆道、腹膜后和淋巴结等。IgG4-RD与多种疾病的临床表现相似,但其治疗方案和临床预后不同,因此正确诊断IgG4-RD十分重要。继2011年日本IgG4-RD综合标准之后,2019年ACR和EULAR联合提出了IgG4-RD分类诊断标准,该标准基于临床表现、血清学、影像学和组织病理学证据4个方面进行综合评分,具有较高的特异性;而在2020年,日本学者对2011年IgG4-RD综合标准进行了修订,进一步提升了其临床实用性。治疗方面,2015年IgG4-RD管理和治疗的国际指南共识指出,糖皮质激素为多数患者的一线治疗方案,免疫抑制剂可与激素联用以提高疗效并减少复发,生物制剂可用于复发性或难治性IgG4-RD的治疗。以利妥昔单抗为代表的生物制剂在IgG4-RD中展现出良好的治疗前景,拓宽了IgG4-RD的用药方案。
简介:摘要胃肠胰G3级神经内分泌瘤(NET G3)是2019年提出的一种新的神经内分泌肿瘤的亚群,具有独特的生物学行为特征,其诊断和治疗尚存在诸多难点和争议之处。胃肠胰NET G3与神经内分泌癌(NEC)在驱动基因及疾病起源上呈现明显差异,NET中突变频率最高的基因为MEN1、DAXX/ATRX等,而NEC中则为TP53和Rb。目前主流观点认为,NET G3与NEC是具有不同遗传背景的两种疾病,NET G3不会进展为NEC。胃肠胰NET G3与NEC的鉴别诊断需结合患者病史、肿瘤组织病理学形态、Ki-67指数、DAXX/ATRX、TP53和Rb等指标的免疫组化染色结果等综合考虑。胃肠胰NET G3的治疗方式包括手术、化疗、靶向治疗、肽受体放射性核素治疗、免疫治疗等。总体而言,鉴于NET G3相对温和的生物学行为,对于其治疗应持积极态度,采用以手术为主的综合治疗方案,部分治疗策略可参考NET G1或G2,但与NEC截然不同。
简介:【摘要】目的:探讨G试验和真菌培养结果应用于深部真菌感染的诊断效果差异。方法:选择2019年1月到2021年5月我院疑似深部真菌感染的患者98例进行研究分析。所有患者分别接受血浆G实验和相关部位的真菌培养。对两种方式的阳性率以及灵敏度、特异性以及预测值进行对比研究。结果:血浆G试验的阳性率明显高于真菌培养结果,P<0.05;血浆G试验的灵敏度、特异性以及阳性阴性预测值分别为89.47%、特异度100.0%、阳性预测值100.0%、阴性预测值87.23%,准确率94.88%。结论:
简介:摘要目的探讨MTHFR C677T与PAI-1 4G/5G基因多态性联合与山东地区人群缺血性脑卒中发生风险的关系。方法回顾性收集济南市中心医院2016年6月至2020年1月入院并进行基因多态性检测的患者,本研究共纳入468例山东地区人群,其中292例伴有缺血性脑卒中定义为卒中组,176例无缺血性脑卒中定义为对照组。卒中组男181例,女111例,中位年龄71.00岁;对照组男87例,女89例,中位年龄66.50岁。采用原位杂交荧光染色脱氧核糖核酸测序法分别检测MTHFR C677T和PAI-1 4G/5G的基因分型,并采用SPSS 25.0对其基因型分布和等位基因频率、基因多态性与缺血性卒中风险的相关性进行统计分析。结果MTHFR TT与PAI-1 4G/4G或4G/5G基因型组合缺血性脑卒中的发生风险均较高,其发生风险分别是MTHFR CC与PAI-1 5G/5G基因型组合的4.946倍(P=0.007)和3.193倍(P=0.033)。结论MTHFR C677T的T等位基因与PAI-1 4G/5G的4G等位基因可能与缺血性脑卒中易感性相关。
简介:摘要目的建立复制型慢病毒(replication competent lentivirus, RCL) VSV-G qPCR检测方法,并进行方法学性能验证及初步应用。方法以慢病毒载体包膜VSV-G基因为目标序列,建立荧光定量PCR检测方法,并对方法的专属性、线性、扩增效率、精密度、准确度、线性范围、检测限、定量限及耐用性进行验证。利用所建立的方法进行CAR-T细胞、慢病毒载体生产终末细胞及慢病毒载体收获液样品的初步应用性研究。结果建立的VSV-G荧光定量PCR法,专属性较好,对293T细胞、PBMC细胞及C8166细胞均无特异性扩增,线性范围为1×102拷贝/test~1×109拷贝/test,R2能够达到0.998以上,扩增效率在93%~98%之间,精密度RSD<12%,准确度回收率为85%~106%,最低检出限和最低定量限分别为5拷贝/test和40拷贝/test。另外,该方法的耐用性较好。各项验证结果均表明该方法能够满足检测的要求。利用该方法对54批样品(包括CAR-T细胞、慢病毒载体及载体生产终末细胞)进行RCL C8166细胞培养法的终点检测,结果显示54批样品均为阴性。结论成功建立了VSV-G实时荧光定量PCR法,各项验证参数均可满足检测要求,该方法的应用将进一步提高慢病毒载体相关产品的安全性。
简介:AbstractIntroduction:Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by a predisposition for the development of visceral malignant disease and sebaceous gland neoplasms, and it is caused by germline mutations in the mismatch repair genes MSH2 and MLH1.Here, we reported a patient with sebaceous neoplasm containing MLH1 c.199G>A mutation.Case presentation:The proband was a 42-year-old man who had undergone surgical resection of colorectal adenocarcinoma at 28 years. He presented with macular rashes and red papule. Histological examination of the lesion on his head revealed a sebaceoma at 37 years. Follow-up of the family history revealed that the proband’s 65-year-old mother had been highly suspected to have Lynch syndrome with colorectal cancer at 40 years of age. The proband’s daughter underwent colonoscopy because of blood in the stool at the age of 13 years, but no abnormalities were found.Discussion:We have herein reported a pathogenic missense mutation c.199G>A (p.Gly67Arg) in exon 2 of MLH1 in patients with MTS. This mutation has been reported in patients with Lynch syndrome who have no skin tumors. However, we also found that some patients with MTS had no history of any internal malignancy or skin tumor. Our data support the idea that a hiatus of many years may pass before both elements-a sebaceous neoplasm and an internal cancer-are present in a patient, thus finally allowing the diagnosis of MTS.Conclusion:A pathogenic Lynch syndrome mutation c.199G>A in exon 2 of the MLH1 gene was found in a patient with MTS who presented with a sebaceous neoplasm.
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