pCR

PCR
  • 文章类型: Journal Article
    背景:与III期非IBC匹配队列相比,炎性乳腺癌(IBC)患者的生存率较差;然而,IBC患者获得病理完全缓解(pCR)的预后意义尚不清楚.我们评估了IBC患者和达到pCR的非IBC患者之间的总生存期(OS)。
    方法:从国家癌症数据库中选择2010-2018年诊断为临床预后III期单侧浸润性乳腺癌的成年女性,接受新辅助化疗(NAC)并进行手术治疗。使用Kaplan-Meier方法估计手术未调整的OS,和对数秩检验用于比较组。在校正了可用的协变量后,使用Cox比例风险模型来估计研究组与OS的关联。
    结果:该研究包括38,390例患者;n=4600(12.0%)IBC和n=33,790(88.0%)非IBC。与非IBC相比,IBC的总体pCR率较低(20.7%与23.3%;p<0.001)。在那些实现pCR的人中,IBC患者的5年死亡率更高(16.4%,95%置信区间[CI]13.9-19.1%)与非IBC患者(9.1%,95%CI8.4-9.8%;对数秩p<0.001)。在所有达到pCR的患者中,与非IBC相比,IBC仍然与OS更差相关(风险比1.48,95%CI1.19-1.85;p<0.001)。
    结论:我们发现,与非IBCIII期患者相比,IBC患者的pCR率更低,OS更差。尽管有有效的全身疗法,与非IBCIII期患者相比,IBC患者实现pCR可能不会带来相同的预后影响.
    BACKGROUND: Patients with inflammatory breast cancer (IBC) have worse survival compared with stage III non-IBC matched cohorts; however, the prognostic significance of achieving pathologic complete response (pCR) in the setting of IBC is not well described. We evaluated overall survival (OS) between IBC patients and non-IBC patients who achieved pCR.
    METHODS: Adult females diagnosed in 2010-2018 with clinical prognostic stage III unilateral invasive breast cancer treated with neoadjuvant chemotherapy (NAC) followed by surgery were selected from the National Cancer Database. Unadjusted OS from surgery was estimated using the Kaplan-Meier method, and log-rank tests were used to compare groups. Cox proportional hazard models were used to estimate the association of study groups with OS after adjustment for available covariates.
    RESULTS: The study included 38,390 patients; n = 4600 (12.0%) IBC and n = 33,790 (88.0%) non-IBC. Overall pCR rates were lower for IBC compared with non-IBC (20.7% vs. 23.3%; p < 0.001). Among those achieving pCR, 5-year mortality was higher for IBC patients (16.4%, 95% confidence interval [CI] 13.9-19.1%) versus non-IBC patients (9.1%, 95% CI 8.4-9.8%; log-rank p < 0.001). Among all patients achieving pCR, IBC remained associated with worse OS compared with non-IBC (hazard ratio 1.48, 95% CI 1.19-1.85; p < 0.001).
    CONCLUSIONS: We found a lower pCR rate and worse OS in IBC patients compared with non-IBC stage III patients. Despite effective systemic therapies, achieving a pCR for IBC patients may not carry the same prognostic impact compared with non-IBC stage III patients.
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  • 文章类型: English Abstract
    这篇综述的重点是描述新的商用POC型分子诊断系统,该系统可以在社区药房中轻松实施,并有可能扩大制药服务的组合,并为改善公共卫生做出重大贡献。对PCR以外的新分子诊断技术的了解相对尚待探索。然而,可用的选择多种多样,并且已经达到了大规模使用的足够技术成熟度。SARS-CoV-2大流行给市场带来了诊断测试,在某些情况下,几十年来一直专门用于研究。等温核酸扩增技术继续发展,很可能在未来几年中,我们将看到其使用呈指数级增长,以及开发新的改进,进一步简化和降低每个测定的成本。此外,我们不能忽视这样一个事实,在新冠肺炎大流行期间,公众已经习惯于通过社区药房等大众分销渠道进行自我诊断。这可以使该部门对其他疾病开放-例如性传播疾病或动物健康-,食物控制,水和空气污染(真菌)或过敏原的存在。对它们的了解是制药部门必不可少的技术监督策略。
    This review focuses on describing new commercially available POC-type molecular diagnostic systems that can be easily implemented in community pharmacies and have the potential to expand the portfolio of pharmaceutical services and make a significant contribution to the improvement of public health.Knowledge of new molecular diagnostic techniques other than PCR is relatively unexplored. However, the available options are diverse and have reached sufficient technological maturity for large-scale use. The SARS-CoV-2 pandemic has brought diagnostic tests to market that, in some cases, have been used exclusively in research for decades.Isothermal nucleic acid amplification technology continues to evolve and it is likely that in the coming years we will witness an exponential increase in its use, as well as the development of new improvements that further simplify and reduce the cost of each assay.Furthermore, we cannot ignore the fact that during the COVID-19 pandemic, the public has become accustomed to self-diagnosing through mass distribution channels such as community pharmacies. Which can open the sector to other diseases - such as sexually transmitted diseases or animal health -, food control, water and air contamination (fungi) or the presence of allergens.Knowledge of them is an essential technological surveillance strategy for the pharmaceutical sector.
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  • 文章类型: Journal Article
    常染色体显性转移的SCA(脊髓小脑共济失调)是遗传性小脑共济失调的一个子集。这些进行性神经系统疾病具有共济失调的临床特征,并且源于小脑的破坏。这些疾病也会影响其他地区,包括脑干.CAG核苷酸的频繁增殖可以编码多聚谷氨酰胺,因此,产生有毒的聚谷氨酰胺(polyQ)蛋白,导致许多类型的SCA。它们根据特定的基因突变进行分类。SCA的主要症状,步态共济失调和不协调,眼球震颤,视力问题,和构音障碍,可以提到。在这项研究中,从2019年11月至2021年9月,31名被怀疑患有SCA疾病的伊朗人被临床诊断。对于这31名怀疑脊髓小脑共济失调的患者,进行PCR,分析基于垂直电泳。对于SCA3患者,进行了TP-PCR技术,并通过毛细管电泳进行了评估。对于所有31名患者,根据常规PCR获得的结果,PCR功能是成功的。三个核苷酸重复的数量在22个人的正常范围内,报告了9名患者。研究显示,根据TP-PCR技术,3名疑似SCA的人感染SCA3,这是使用PCR方法诊断出SCA3的7个人。由于本试验的目的是为本病提供更准确的诊断方法和产前诊断,TP-PCR方法被证明更适合用于脊髓小脑共济失调3型中异常三核苷酸CAG的诊断。
    SCA (spinocerebellar ataxia) which is autosomal dominantly transferred is a subset of inherited cerebellar ataxia. These progressive neurological diseases have clinical features of ataxia and are derived from the destruction of the cerebellum. These diseases can also affect other areas, including the brainstem. Frequent proliferation of CAG nucleotides can encode polyglutamine and, as a result, produce the toxic polyglutamine (poly Q) protein that leads to many types of SCAs. They are categorized based on specific genetic mutations. The main symptoms of SCA, gait ataxia and incoordination, nystagmus, vision problems, and dysarthria, can be mentioned. In this study, 31 Iranians who were suspected of SCA disease were clinically diagnosed from November 2019 to September 2021. For these 31 patients suspected of spinocerebellar ataxia, PCR was performed, and the analysis was based on vertical electrophoresis. For SCA3 patients, the TP-PCR technique was carried out and evaluated by capillary electrophoresis. For all 31 patients, PCR function was successful according to the results attained by conventional PCR. The number of three nucleotide replications was within the normal range for 22 people, and nine patients were reported. Studies showed that three people suspected of SCA were infected with SCA3 according to the TP-PCR technique, and this was while seven people were diagnosed with SCA3 using the PCR method. As the purpose of this test is to provide a more accurate diagnostic method and prenatal diagnosis of this disease, the TP-PCR method proved to be more suitable when applied for the diagnosis of abnormal trinucleotides CAG in spinocerebellar ataxia type 3.
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  • 文章类型: Journal Article
    神经李斯特菌病,小反刍动物的常见病,最常由单核细胞增生李斯特菌引起。在这里,我们描述了在我们的实验室中诊断出的25例山羊神经李斯特菌病,并将我们的荧光抗体测试(FAT)结果与免疫组织化学(IHC)和聚合酶链反应(PCR)测试进行了诊断确认。在所有病例中,与神经李斯特菌病一致的神经组织学改变会影响脑桥,6例向头端延伸至中脑,6例延髓尾部,和/或小脑背侧4例。17例患者出现急性炎症改变,包括神经实质微脓肿,神经元坏死和神经吞噬,轴突肿胀,小胶质细胞增生和星形胶质细胞增生,血管周围中性粒细胞和巨噬细胞,淋巴细胞,和偶尔延伸到软脑膜的浆细胞。亚急性到慢性改变(8例)包括巨噬细胞的神经实质和血管周围簇与罕见的中性粒细胞,淋巴细胞,浆细胞与胶质结节混合。在4例H&E染色的组织切片中,在嗜中性粒细胞或巨噬细胞内观察到细菌杆菌。革兰氏染色突出革兰氏阳性杆菌13例。2例经FAT证实为神经李斯特菌病,IHC在19例病例中,并通过PCR在20例。
    Neurolisteriosis, a common disease of small ruminants, is most often caused by Listeria monocytogenes. Here we describe 25 cases of caprine neurolisteriosis diagnosed in our laboratory over a 5-y period and compare our fluorescent antibody test (FAT) results with immunohistochemistry (IHC) and polymerase chain reaction (PCR) testing for diagnostic confirmation. Neurohistologic changes consistent with neurolisteriosis affected the pons in all cases, extending rostrally to the mesencephalon in 6 cases, caudally to the medulla oblongata in 6 cases, and/or dorsally to the cerebellum in 4 cases. Acute inflammatory changes were observed in 17 cases, and included neuroparenchymal microabscesses, neuronal necrosis and neuronophagia, axonal swelling, microgliosis and astrogliosis, and perivascular neutrophils with macrophages, lymphocytes, and plasma cells that occasionally extended to the leptomeninges. Subacute-to-chronic changes (8 cases) consisted of neuroparenchymal and perivascular clusters of macrophages with rare neutrophils, lymphocytes, and plasma cells admixed with glial nodules. Bacterial bacilli were observed within neutrophils or macrophages in H&E-stained tissue sections in 4 cases. Gram stain highlighted gram-positive bacilli in 13 cases. Neurolisteriosis was confirmed by FAT in 2 cases, by IHC in 19 cases, and by PCR in 20 cases.
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  • 文章类型: Journal Article
    毛滴虫病是一种影响人类生殖和泌尿系统的寄生虫病,代表世界范围内大量非病毒性性传播感染。鉴于其对生殖健康的影响,关于阴道毛滴虫患病率的现有信息有限,这项研究旨在评估在大不里士卫生中心转诊的女性中阴道毛虫的患病率,伊朗西北部。对在大不里士29Bahman医院就诊的448名可疑妇女进行了研究,伊朗西北部,2020年9月至2021年9月。根据研究方案收集人口统计学数据。使用无菌拭子获得阴道分泌物,采用巴氏染色法和PCR法测定阴道毛虫的患病率。在研究的448例病例中,48个(10.7%)样本被怀疑为阴道毛虫感染,而4例(0.89%)使用PCR方法证实。感染者的平均年龄为41.7±9.4岁。炎症之间没有观察到统计学相关性,避孕和感染方法(p=0.8)。本研究显示,在研究人群中,阴道毛虫感染的患病率相对较低。此外,PCR方法的使用可有益于确认可疑样品。
    Trichomoniasis is a parasitic disease that affects the human reproductive and urinary systems, representing a substantial non-viral sexually transmitted infection worldwide. Given its impact on reproductive health, and the limited available information on the prevalence of Trichomonas vaginalis, this study aimed to evaluate the prevalence of T. vaginalis among women referred to health centers in Tabriz, Northwest Iran. Study was conducted on 448 suspicious women who attended to 29Bahman hospital in Tabriz, Northwest Iran, during September 2020 to September 2021. Demographic data were collected according to the study protocol. Vaginal discharges were obtained using sterile swabs, and the prevalence of T. vaginalis was determined using Papanicolauo staining and PCR method. Among the 448 cases studied, 48 (10.7%) samples were suspected as a T. vaginalis infection, while 4 (0.89%) confirmed using the PCR method. The mean age of infected individuals was 41.7 ± 9.4 years. No statistical correlation was observed between inflammation, method of contraception and infection (p = 0.8). The present study revealed a relatively low prevalence of T. vaginalis infection within the study population. Additionally, the utilization of the PCR method can be beneficial in confirming suspected samples.
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  • 文章类型: Journal Article
    牛Theileriosis是由细胞内寄生虫引起的原生动物疾病(Theileriaspp。)通过蜱传播,被认为是最重要的寄生虫病之一,可能危及埃及牛群业。本研究是为了对牛theileriosis及其相关危险因素进行分子调查(季节变化,地理位置,品种,年龄,性别,蜱虫侵扰,和杀螨剂应用)在三个埃及省,Beni-Suef,Al-Faiyum,和Al-Minya为期一年,从2021年12月延长至2022年11月,此外,Theileria分离株的遗传多样性。总共对961头牛进行了Theileria感染的临床检查,微观上,并通过聚合酶链反应(PCR)使用18SrRNA基因进行pirospomaDNA检测,rRNA基因小亚基的Theileria属特异性引物,和Tams-1基因的环生Theileria特异性引物。牛的患病率为9.26%,11.86%使用Giemsa染色的血涂片和PCR,分别。当通过特异性引物筛选时,通过Theileria属特异性引物筛选的所有阳性样品均为T.annulata阳性。基于分子筛选,季节,牛品种和杀螨剂的应用被认为是T.annulata感染的危险因素,而局部性,年龄,性别和蜱虫感染对疾病的发生影响不大。鉴定了一种基于Tam-1基因的潜在的新的环状念珠菌单倍型,其登录号为OR364144和OR915851。因此,T.annulata是唯一发现的Theileria物种,在牛群中起着重大问题。这项研究可以作为未来研究未开发区域和不同动物物种的基础,以制定结构良好的预防和控制措施。
    Bovine theileriosis is a protozoan disease caused by the intracellular parasite (Theileria spp.) transmitted by ticks and it is considered one of the most significant parasitic diseases, potentially endangering Egyptian cattle herd industry. The present study was conducted for a molecular survey of bovine theileriosis and its associated risk factors (season variations, geographical locations, breeds, age, sex, tick infestation, and acaricide applications) in three Egyptian governorates, Beni-Suef, Al-Faiyum, and Al-Minya for a year extended from December 2021 to November 2022, in addition, genetic diversity of Theileria isolates. A total of 961 cattle were examined for Theileria infection clinically, microscopically, and by Polymerase Chain Reaction (PCR) using 18S rRNA gene for piroplasms DNA detection, Theileria genus-specific primers of the small subunit of rRNA gene, and Theileria annulata specific primers of the Tams-1 gene. The prevalence rate of bovine theileriosis was 9.26%, and 11.86% using Giemsa-stained blood smear and PCR, respectively. All positive samples screened by Theileria genus-specific primers were positive for T. annulata when screened by the specific primers. Based on molecular screening, season, cattle breeds and acaricide applications were considered risk factors for T. annulata infection, while locality, age, sex and tick infestation had insignificant effects with the occurrence of the disease. A potential novel T. annulata haplotype based on the Tam-1 gene was identified with accession numbers OR364144 and OR915851. Therefore, T. annulata was the only Theileria species found and played a significant problem in the cattle population. This study could be the basis for future studies on unexplored regions and different animal species for well-structured prevention and control measures.
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  • 文章类型: Journal Article
    背景:基于克拉霉素基因型耐药性的定制治疗方案的最佳持续时间尚未确定。
    目的:这项研究是一项全国性的,多中心,随机试验比较经验疗法和基于基因型耐药性的定制疗法一线根除幽门螺杆菌。我们还比较了每组7天和14天方案的根除率。
    方法:幽门螺杆菌感染患者首先随机接受经验性或特制治疗。每组患者进一步随机分为7天或14天方案。经验疗法包括三联疗法(TT)方案(泮托拉唑40mg,每日两次,阿莫西林1克,和克拉霉素500毫克),持续7或14天。量身定制的治疗包括在没有基因型抵抗的患者中7或14天的TT。基因型耐药的患者接受铋四联疗法(BQT)治疗(每天两次剂量的泮托拉唑40mg,三日剂量的甲硝唑500毫克,以及每日四次剂量的铋300毫克和四环素500毫克),持续7或14天。13C-尿素呼气试验评估根除率。主要结果是各组的根除率。
    结果:共593例患者纳入研究。经验性治疗组的根除率为65.7%(201/306),定制治疗组的根除率为81.9%(235/287),用于意向治疗分析(p<0.001)。在符合方案的分析中,经验治疗组和定制组的根除率分别为70.3%(201/286)和85.5%(235/274)(p<0.001),分别。两组依从性无差异。与经验组相比,定制组的不良事件发生率更高(p<0.001)。
    结论:我们的研究证实,在韩国,基于基因型耐药性的定制治疗比经验治疗更有效。然而,每组的7日和14日治疗方案无显著差异.需要未来的研究来确定经验和定制治疗方案的最佳治疗持续时间。
    BACKGROUND: The optimal duration of regimens for tailored therapy based on genotypic resistance for clarithromycin has yet to be established.
    OBJECTIVE: This study was a nationwide, multicenter, randomized trial comparing empirical therapy with tailored therapy based on genotypic resistance for first-line eradication of Helicobacter pylori. We also compared the eradication rates of 7- and 14-day regimens for each group.
    METHODS: Patients with H. pylori infection were first randomized to receive empirical or tailored therapy. Patients in each group were further randomized into 7- or 14-day regimens. Empirical therapy consisted of a triple therapy (TT) regimen (twice-daily doses of pantoprazole 40 mg, amoxicillin 1 g, and clarithromycin 500 mg) for 7 or 14 days. Tailored therapy consisted of TT of 7 or 14 days in patients without genotypic resistance. Patients with genotypic resistance were treated with bismuth quadruple therapy (BQT) regimens (twice-daily doses of pantoprazole 40 mg, three daily doses of metronidazole 500 mg, and four times daily doses of bismuth 300 mg and tetracycline 500 mg) for 7 or 14 days. A 13C-urea breath test assessed eradication rates. The primary outcome was eradication rates of each group.
    RESULTS: A total of 593 patients were included in the study. The eradication rates were 65.7% (201/306) in the empirical therapy group and 81.9% (235/287) in the tailored therapy group for intention-to-treat analysis (p < 0.001). In the per-protocol analysis, the eradication rates of the empirical therapy and tailored groups were 70.3% (201/286) and 85.5% (235/274) (p < 0.001), respectively. There was no difference in compliance between the two groups. The rate of adverse events was higher in the tailored group compared to the empirical group (p < 0.001).
    CONCLUSIONS: Our study confirmed that tailored therapy based on genotypic resistance was more effective than empirical therapy for H. pylori eradication in Korea. However, no significant difference was found between 7- and 14-day regimens for each group. Future studies are needed to determine the optimal duration of therapy for empirical and tailored therapy regimens.
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  • 文章类型: Journal Article
    探测生命推动了几个世纪的研究和探索,但是最近尝试编译和生成一个总结生活特征的框架,旨在为地球以外的生命探测任务制定策略,忽视了一个关键的生活特征:行为。然而,一些行为,如生物矿化或运动偶尔被提出作为生物特征来检测生命。这里,我们利用特定的出租车运动行为,趋磁,通过实验提供洞察力来支持行为作为明确的,敏感的生物特征,和磁力作为预筛选选项。使用趋磁细菌物种,磁螺旋藻,我们进行了一项实验室敏感性实验,将PCR与悬滴行为测定进行了比较,使用稀释系列。悬滴行为测定在视觉上显示了MTB朝向磁极的运动性。我们的发现表明,与已建立的PCR方案相比,行为测定在检测磁性分枝杆菌方面表现出更高的灵敏度。虽然两种方法在高浓度下具有相似的检测灵敏度,在≥10-7倍稀释时,行为方法被证明更敏感。即使在10-9稀释样品时,行为方法也可以检测细菌。从Hula山谷的环境样品获得了可比的结果。我们提出行为线索作为有价值的生物特征,在地球上未开发的水生栖息地中进行生命检测,并激发和支持有关如何检测地球外现存生命的讨论。通用和强大的行为测定可以代表方法学革命。
    Detecting life has driven research and exploration for centuries, but recent attempts to compile and generate a framework that summarizes life features, aimed to develop strategies for life detection missions beyond planet Earth, have disregarded a key life feature: behavior. Yet, some behaviors such as biomineralization or motility have occasionally been proposed as biosignatures to detect life. Here, we capitalize on a specific taxis\' motility behavior, magnetotaxis, to experimentally provide insights in support of behavior as an unambiguous, sensitive biosignature, and magnetic forces as a prescreening option. Using a magnetotactic bacterial species, Magnetospirillum magneticum, we conducted a lab sensitivity experiment comparing PCR with the hanging drop behavioral assay, using a dilution series. The hanging drop behavioral assay visually shows the motility of MTB toward magnetic poles. Our findings reveal that the behavioral assay exhibits higher sensitivity in the detection of M. magneticum when compared to the established PCR protocol. While both methods present similar detection sensitivities at high concentrations, at ≥ 10-7 fold dilutions, the behavioral method proved more sensitive. The behavioral method can detect bacteria even when samples are diluted at 10-9. Comparable results were obtained with environmental samples from the Hula Valley. We propose behavioral cues as valuable biosignatures in the ongoing efforts of life detection in unexplored aquatic habitats on Earth and to stimulate and support discussions about how to detect extant life beyond Earth. Generic and robust behavioral assays can represent a methodological revolution.
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  • 文章类型: Journal Article
    尽管对曲霉病和毛霉菌病糖分的研究对于优化抗真菌治疗很重要,关于这个问题的数据很少。因此,我们系统调查了已确诊的毛霉菌病患者的曲霉病合并感染。已证实的毛霉菌病成年患者的医疗记录,其福尔马林固定的石蜡包埋(FFPE)组织切片可用,在2007年8月至2023年7月期间,我们在一家三级医院进行了回顾性分析,以评估合并曲霉病的感染.我们记录了来自无菌和非无菌部位的真菌培养物,并对FFPE组织进行了PCR测定,以检测曲霉和Mucorales特异性DNA。67例确诊的毛霉菌病患者,包括12(18%)来自无菌部位培养物的毛霉菌病剂阳性培养物,已注册。来自无菌和非无菌部位的真菌培养物显示了曲霉属。67例患者中有9例(13%)增长,包括2个无菌培养物和7个非无菌培养物。来自FFPE切片的真菌PCR分析在5中对曲霉特异性PCR呈阳性(7%),在8中对曲霉和Mucorales特异性PCR结果均呈阳性(12%)。总的来说,67例确诊的毛霉菌病患者中有21例(31%)具有曲霉病合并感染的微生物和/或分子证据。血或支气管肺泡灌洗液半乳甘露聚糖阳性结果在合并感染组(67%[14/21])比毛霉菌病组(37%[17/46],P=0.024)。两组之间的死亡率没有显着差异。大约三分之一的已证实的毛霉菌病患者表现出曲霉病合并感染的分子和/或微生物学证据。需要进一步的研究来确定曲霉病和毛霉菌病合并感染的患者,最佳抗真菌治疗。
    本研究旨在探讨毛霉菌病与曲霉病的共感染。主要研究结果显示,大约31%的患者表现出合并感染的证据,强调了在诊断和治疗决策中同时考虑病原体的重要性。
    Although research on aspergillosis and mucormycosis confection is important to optimize antifungal therapy, data on this issue is scarce. Thus, we systematically investigated aspergillosis coinfection in patients with proven mucormycosis. Medical records of adult patients with proven mucormycosis whose formalin-fixed paraffin-embedded (FFPE) tissue sections were available, in a tertiary hospital from August 2007 to July 2023 were retrospectively reviewed to assess coinfection with aspergillosis. We noted cultures of fungi from sterile and non-sterile sites and performed PCR assays on FFPE tissues to detect Aspergillus- and Mucorales-specific DNA. Sixty-seven patients with proven mucormycosis, including 12 (18%) with positive culture of the mucormycosis agent from sterile site cultures, were enrolled. Fungal cultures from sterile and non-sterile sites revealed Aspergillus spp. growth in 9 (13%) of the 67 patients, including 2 sterile and 7 non-sterile cultures. The fungal PCR analysis from the FFPE sections was positive for Aspergillus-specific PCR in 5 (7%) and positive for both Aspergillus- and Mucorales-specific PCR results in 8 (12%). Overall, 21 (31%) of the 67 patients with proven mucormycosis had microbiologic and/or molecular evidence of aspergillosis coinfection. Positive blood or bronchoalveolar lavage fluid galactomannan results were more common in the coinfection group (67% [14/21]) than in the mucormycosis group (37% [17/46], P = 0.024). No significant difference in mortality between the two groups was observed. Approximately one-third of patients with proven mucormycosis exhibited molecular and/or microbiologic evidence of aspergillosis coinfection. Further research is needed to identify patients with aspergillosis and mucormycosis coinfections, for optimal antifungal therapy.
    The study aims to investigate the coinfection between mucormycosis and aspergillosis. Key findings reveal that approximately 31% of patients demonstrated evidence of coinfection, which emphasizes the importance of considering both pathogens in diagnosis and treatment decisions.
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  • 文章类型: Journal Article
    血友病B(Hb)是一种由FIX基因缺陷引起的遗传性出血性疾病,导致严重的凝血功能障碍。本研究设计了8对覆盖FIX基因8个外显子的引物,采用PCR和DNA测序技术检测31例HB患者的FIX基因突变。在Blast上使用Chromas软件将测序结果与正常序列进行比较以鉴定突变位点。研究结果表明,在中国人群中,CpG二核苷酸区是突变热点,第192核苷酸(F192)是二核苷酸多态性位点。致病突变包括点突变,删除,插入,和影响氨基酸或剪接位点的突变。对于只有多态位点的情况,需要进一步的外显子测序.这项研究为全球HB数据库增加了新的突变数据,支持对FIX基因突变种族差异的研究,并有助于国内HB统计。该结果有助于理解FIX基因在凝血中的作用,阐明HB发病机制,并为未来的基因治疗提供基础。
    Hemophilia B (HB) is an inherited bleeding disorder caused by defects in the FⅨ gene, leading to severe coagulation dysfunction. This study designed eight pairs of primers covering eight exons of the FⅨ gene and used PCR and DNA sequencing to detect FⅨ gene mutations in 31 HB patients. Sequencing results were compared with normal sequences using Chromas software on Blast to identify mutation sites. Findings revealed the CpG dinucleotide region as a mutation hotspot and the 192nd nucleotide (FⅨ192) as a dinucleotide polymorphism site in the Chinese population. Pathogenic mutations included point mutations, deletions, insertions, and mutations affecting amino acids or splicing sites. For cases with only polymorphic sites, further exon sequencing is needed. This study adds new mutation data to the global HB database, supports research on racial differences in FⅨ gene mutations, and contributes to domestic HB statistics. The results aid in understanding the FⅨ gene\'s role in coagulation, elucidating HB pathogenesis, and providing a basis for future gene therapy.
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