haematological diseases

血液病
  • 文章类型: Case Reports
    弓形虫病是由线虫弓形虫属传播的人畜共患病。免疫功能低下的宿主比普通人群更容易受到细菌的影响,病毒,真菌和寄生虫感染。在该人群中,弓形虫病可能表现为恶化或重新激活,并且可能具有严重或非典型的表现,这对医疗保健提供者来说是诊断挑战。我们报告了一例受急性髓性白血病(AML)和霍奇金淋巴瘤影响的患者在化疗期间发生的肺弓形虫病,并在叙述性综述中总结了免疫受损人群中肺部受累的最新证据。这项工作的目的还在于修改当前有关免疫功能低下的宿主弓形虫感染期间肺部受累的文献,以提高对临床表现的认识。治疗和结果。一名66岁的男子接受了阿糖胞苷和伊达比星的AML化疗诱导方案,主诉发热性中性粒细胞减少和干咳。在胸部计算机断层扫描(CT)中,有多个结节性肺部病变伴胸膜下合并。肺活检显示炎性浸润,弥漫性小肉芽肿伴少量嗜酸性粒细胞成分。实验室分析显示高免疫球蛋白E(IgE)计数与正常外周嗜酸性粒细胞,在扩展的寄生虫学分析中,弓形虫免疫印迹试验结果为阳性。在最受认可的波兰弓形虫感染假说中,患者接受阿苯达唑联合糖皮质激素治疗4周,一个积极的结果。化疗期间的感染并发症并不少见,然而,这是在阿糖胞苷和伊达比星治疗AML期间报告的首例肺弓形虫病病例.修订后的文献显示,男性性别和年轻年龄是可能的危险因素,然而,大多数弓形虫血清阳性病例报告发生在实体器官恶性肿瘤中。在这种情况下,疑犯主要基于实验室总IgE升高,通过血清学证实,解剖病理学和放射学发现。在慢性感染中通常不存在嗜酸性粒细胞增多。总之,肺部受累和高IgE滴度的患者应排除肺弓形虫病,伴有或不伴有外周嗜酸性粒细胞增多,尤其是那些已知免疫功能低下的人。
    Toxocariasis is a zoonosis transmitted by the nematode Toxocara spp. Immunocompromised hosts are more susceptible than general population to bacterial, viral, fungal and parasitic infections. In this population toxocariasis may present as exacerbation or reactivation and could have severe or atypical manifestations being a diagnostic challenge for healthcare providers. We report a case of a presumptive pulmonary toxocariasis during chemotherapy in a patient affected by acute myeloid leukaemia (AML) and Hodgkin lymphoma and we summarize current evidence of pulmonary involvement in immunocompromised population with Toxocara spp infection in a narrative review. The aim of this work is also to revise the current literature on pulmonary involvement during Toxocara spp infection in immunocompromised hosts to improve knowledge on clinical presentation, treatment and outcome. A 66 years old man who had undergone to a cytarabine and idarubicin chemotherapy induction scheme for AML, complained of febrile neutropenia and dry cought. At the chest computed tomography (CT) there were multiple nodular pulmonary lesions with subpleural consolidations. The lung biopsy revealed inflammatory infiltration with diffuse small granulomas with minor eosinophil component. The laboratory analysis showed high immunoglobulin E (IgE) count with normal peripherical eosinophils, among the extended parasitological analysis, Toxocara immunoblot assay resulted positive. In the most accepted hypothesis of a polmunary toxocariasis infection, the patient was treated with a combination of albendazole plus corticosteroids for four weeks, with a positive outcome. Infection complications during chemotherapy are not uncommon, however, this is the first reported case of pulmonary toxocariasis during cytarabine and idarubicin treatment in AML. The revised literature shows male gender and younger age as possible risk factors, nevertheless the majority of cases of seropositivity for Toxocara was reported in solid organ malignancies. In this case, the suspect was mainly based on laboratory total elevated IgE, confirmed by serological, anatomo-pathological and radiological findings. Hypereosinophilia is often not present in chronic infection. In conclusion, pulmonary toxocariasis should be ruled out in patients with pulmonary involvement and high IgE titre, with or without peripheral eosinophilia, especially in those with known immunocompromised status.
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  • 文章类型: Journal Article
    目的:人乳头瘤病毒(HPV)的持续存在被认为是肿瘤进展的主要危险因素,和证据表明,调节性T细胞在病毒消除失败中起重要作用。调节性T细胞可能参与维持有利于病毒持久性和新可塑性的微环境。通过局部免疫反应的失调。免疫功能改变与慢性感染发展之间的关联,癌症(实体和血液学),自身免疫性疾病在文献中有记载。这项回顾性分析的目的是评估由于15年的子宫颈抹片检查异常而参加阴道镜检查的妇女中HPV宫颈感染与淋巴瘤发生率之间的可能相关性。
    方法:横断面研究参与者:我们回顾性调查了2004年至2019年期间转诊至我们中心的21-84岁女性的血液病发病率。
    方法:大学医院方法:在我们的分析中,我们纳入了在检测到异常巴氏涂片和HPV感染后诊断为HL和NHL的女性.我们排除了在巴氏涂片和HPV检测异常之前诊断为淋巴瘤的患者。结果我们将患者分为两组,以分析标准发生率(SIR):HL患者(19/7064,0.26%),和NHL患者(22/7064,0.31%)。在我们的样本中,我们报告说,与普通人群相比,患淋巴瘤的风险很大,对于HL和NHL疾病,年龄<45岁。关于HL,<45岁女性的SIR为4.886(95%CI2.775-9.6029),45-59岁女性的SIR为2.612(95%CI0.96-7.108804).另一方面,对于<45岁女性的NHL,我们报告的SIR约为3.007(95%,CI1.273-7.101575),在45-59岁的女性中,SIR为4.291(95%CI2.444-7.534399),在60-74岁的女性中,SIR为3.283(95%CI1.054-10.22303)。这项回顾性分析是在意大利北部的一个中心进行的,没有考虑该国在HPV基因型方面存在的所有区域间差异。种族,和人口特征。关于HL和NHL的SIR分析,由于病例样本少,我们没有将疾病分为亚型。最后,我们在分析中只考虑子宫颈抹片检查异常的女性,而不考虑一般人群.结论结论,患有慢性和持续性HPV感染的女性患淋巴瘤的相对风险较高.这种可能的关联可能是由免疫系统对HPV的反应失调和病毒清除失败引起的。尤其是年轻女性。
    OBJECTIVE: Human papillomavirus (HPV) persistence is considered the main risk factor for neoplastic progression, and evidence suggests that regulatory T cells play an important role in the failure of viral elimination. Regulatory T cells may be involved in maintaining a microenvironment favourable for viral persistence and neoplasticity, through a deregulation of the local immune response. The association between altered immune function and the development of chronic infections, cancer (solid and haematological), and autoimmune diseases is documented in the literature. The purpose of this retrospective analysis was to evaluate the possible correlation between HPV cervical infection and lymphoma incidence in women attending colposcopy due to an abnormal Pap smear during a period of 15 years.
    METHODS: This is a cross-sectional study.
    METHODS: We investigated retrospectively the incidence of haematological diseases in women aged 21-84 with an abnormal Pap smear who referred to our centre between 2004 and 2019.
    METHODS: This study was conducted at the university hospital.
    METHODS: In our analysis, we included women with diagnoses of HL and NHL after the detection of abnormal Pap smears and HPV infections. We excluded patients with a diagnosis of lymphoma preceding the date of the abnormal Pap smear and HPV test.
    RESULTS: We divided the patients into two groups in order to analyse the standard incidence ratio (SIR): HL patients (19/7,064, 0.26%) and NHL patients (22/7,064, 0.31%). In our sample, we reported a significant risk of developing lymphoma compared to the general population, both for HL and NHL disease, at age <45 years. Regarding HL, the SIR of disease in women <45 years was 4.886 (95% CI 2.775-9.6029) and in women between 45 and 59 years was 2.612 (95% CI 0.96-7.108804). On the other hand, for NHL in women <45 years, we reported an SIR of about 3.007 (95%, CI 1.273-7.101575), in women aged 45-59 years, the SIR was 4.291 (95% CI 2.444-7.534399), and in women aged 60-74 years, the SIR was 3.283 (95% CI 1.054-10.22303).
    CONCLUSIONS: This retrospective analysis was conducted in a single centre in Northern Italy and did not consider all interregional differences existing in the country in terms of HPV genotypes, ethnicity, and population characteristics. Regarding the analysis of SIR for HL and NHL, we did not divide the disease into subtypes because of the small sample of cases. Finally, we considered in our analysis only women with an abnormal Pap smear and not the general population.
    CONCLUSIONS: Women with chronic and persistent HPV infections may have a higher relative risk of developing lymphoma. This possible association may be caused by the deregulation of the immune system response against HPV and the failure of viral clearance, especially in younger women.
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  • 文章类型: Journal Article
    背景和目的:嗜麦芽窄食单胞菌是一种普遍存在的,有氧,革兰氏阴性杆菌在受血液恶性肿瘤影响的患者中引起越来越多的关注。材料和方法:我们报告了来自意大利北部两个中心的病例系列,以描述其特征,血液系统恶性肿瘤和/或异基因造血干细胞移植(aHSCT)患者嗜麦芽嗜血杆菌感染的结局和微生物学反应.结果:纳入10例患者。中位年龄为67岁,7名患者(70%)为男性。Charlson合并症指数中位数为6(IQR:4-8)。最常见的血液合并症是急性髓性白血病(AML;n=3;30%)和非霍奇金淋巴瘤(n=3;30%)。3例(30%)患者在感染前接受了aHSCT,都是AML。所有患者最近都接受了抗生素疗程,并在感染前留置了中心静脉导管。主要临床表现为医院获得性肺炎,有(2;20%)或没有(4;40%)继发性血流感染和CRBSI(3;30%)。四名患者接受头孢地洛单药或复方新诺明联合治疗。其余患者接受复方新诺明或左氧氟沙星单药治疗。结论:尽管开始抗菌治疗后临床改善率很高(90%),在高共患人群中,我们面临高30日死亡率(30%)和院内死亡率(50%).
    Background and Objectives: Stenotrophomonas maltophilia is a ubiquitous, aerobic, Gram-negative bacillus causing increasing concern in patients affected by haematological malignancies. Materials and Methods: We report a case series from two centres in Northern Italy to describe the characteristics, outcome and microbiological response of S. maltophilia infections in patients with haematological malignancies and/or allogenic hematopoietic stem cell transplantation (aHSCT). Results: Ten patients were included. The median age was 67 years, and seven patients (70%) were males. The median Charlson Comorbidity Index was 6 (IQR: 4-8). The most frequent haematological comorbidities were acute myeloid leukaemia (AML; n = 3; 30%) and non-Hodgkin\'s lymphoma (n = 3; 30%). Three (30%) patients underwent aHSCT before infection, all for AML. All the patients had undergone a recent antibiotics course and had an indwelling central venous catheter before infection. The main clinical presentations were nosocomial pneumonia, with (2; 20%) or without (4; 40%) secondary bloodstream infection and CRBSI (3; 30%). Four patients were treated with cefiderocol in monotherapy or combinations therapy with cotrimoxazole. The rest of the patients were treated with cotrimoxazole or levofloxacin in monotherapy. Conclusions: Despite a high rate of clinical improvement (90%) after starting antimicrobial therapy, we faced high 30-day mortality (30%) and in-hospital mortality (50%) rates in a highly comorbid population.
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  • 文章类型: Journal Article
    在许多血液疾病中,生存概率是关键结果。然而,当患者年龄较大,随访时间较长时,相当比例的死亡不能归因于所研究的疾病.这降低了常见的生存分析措施,如总体生存的重要性,并表明需要其他需要更复杂方法的结果措施。当特定疾病的信息是感兴趣的,但死亡的原因是没有在数据中,相对生存方法变得至关重要。相对生存的想法是将观察到的数据集与一般人群中的死亡率数据合并,从而可以间接估计疾病的负担。在这项工作中,概述了血液学领域可能感兴趣的不同措施。我们介绍了报告死于感兴趣的疾病的概率的粗死亡率;净生存率,仅关注过度危险,并提出了比较不同人群死亡率人群患者疾病负担的关键指标;以及相对生存率,可以简单比较患者和普通人群的生存率。我们解释了每个度量的属性,并给出了一些关于估计的简短注释。此外,我们描述了如何研究与协变量的关联。所有方法及其估计器都在接受首次异基因造血干细胞移植治疗骨髓增生异常综合征或继发性急性髓细胞性白血病的老年患者亚组中进行了说明。展示不同的方法如何提供对数据的不同见解。
    In many haematological diseases, the survival probability is the key outcome. However, when the population of patients is rather old and the follow-up long, a significant proportion of deaths cannot be attributed to the studied disease. This lessens the importance of common survival analysis measures like overall survival and shows the need for other outcome measures requiring more complex methodology. When disease-specific information is of interest but the cause of death is not available in the data, relative survival methodology becomes crucial. The idea of relative survival is to merge the observed data set with the mortality data in the general population and thus allow for an indirect estimation of the burden of the disease. In this work, an overview of different measures that can be of interest in the field of haematology is given. We introduce the crude mortality that reports the probability of dying due to the disease of interest; the net survival that focuses on excess hazard alone and presents the key measure in comparing the disease burden of patients from populations with different general population mortality; and the relative survival ratio which gives a simple comparison of the patients\' and the general population survival. We explain the properties of each measure, and some brief notes are given on estimation. Furthermore, we describe how association with covariates can be studied. All the methods and their estimators are illustrated on a sub-cohort of older patients who received a first allogeneic hematopoietic stem cell transplantation for myelodysplastic syndromes or secondary acute myeloid leukemia, to show how different methods can provide different insights into the data.
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  • 文章类型: Letter
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  • 文章类型: Journal Article
    目的:本研究首次通过体格检查和口腔细胞病理学检查来分析肿瘤血液病患者口腔念珠菌病的患病率。
    方法:这是一项横断面和观察性研究,其回顾性样本由血液科门诊住院的参与者组成,他们被诊断出患有血液病。所有参与者都接受了口腔粘膜检查和从口腔粘膜刮擦。
    结果:在62名参与者中,男性占56.5%,白人占82.3%,平均年龄57岁。淋巴瘤是最常见的血液系统疾病(24.2%)。总的来说,48.4%的样本被诊断为口腔念珠菌病。在口腔念珠菌病的参与者中,13例(21.0%)有临床诊断。细胞病理学分析显示,又有17例(27.4%)没有指示念珠菌病的口腔病变。红斑念珠菌病(P=0.02),假膜念珠菌病(P<0.001),临床念珠菌病(P<0.001),纤维增生(P=0.032),涂舌(P=0.012)与念珠菌病的细胞病理学诊断相关。
    结论:口腔念珠菌病在血液病患者中很常见,细胞病理学检查被证明是一个有用的工具,确认念珠菌病的临床诊断并确定亚临床病例。考虑到这些患者可能发生的并发症,这些数据非常相关,比如住院时间更长,由于念珠菌血症,一般状况恶化甚至死亡。
    OBJECTIVE: This study is the first to analyse the prevalence of oral candidiasis in onco-haematological patients by physical and oral cytopathological examinations.
    METHODS: This is a cross-sectional and observational study with a retrospective sample composed of participants hospitalised in the haematology clinic, who were diagnosed with haematological diseases. All participants received an oral mucosal examination and scraping from oral mucosa.
    RESULTS: Of the 62 participants, 56.5% were male and 82.3% were white, with mean age of 57 years. Lymphoma was the most common haematological disease (24.2%). In total, 48.4% of the sample was diagnosed with oral candidiasis. Of the participants with oral candidiasis, 13 (21.0%) had a clinical diagnosis. Cytopathological analysis revealed 17 more (27.4%) cases without oral lesions indicative of candidiasis. Erythematous candidiasis (P = 0.02), pseudomembranous candidiasis (P < 0.001), clinical candidiasis (P < 0.001), fibrous hyperplasia (P = 0.032), and coated tongue (P = 0.012) showed a correlation with a candidiasis cytopathological diagnosis.
    CONCLUSIONS: Oral candidiasis is common among patients with haematological disease, and the cytopathological examination proved to be a useful tool, confirming clinical diagnosis of candidiasis and identifying subclinical cases. These data are of great relevance considering the possible complications that these patients may develop, such as longer hospitalisations, worsening of the general condition or even death due to candidemia.
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  • 文章类型: Journal Article
    背景:这项研究的目的是评估联合虚拟支气管镜导航(直接路径)的诊断价值,带导鞘的径向支气管超声(EBUS),超薄支气管镜检查,快速现场细胞学评估(ROSE),和宏基因组下一代测序(mNGS)用于血液病患者的困难肺部病变。
    方法:在本研究中,通过经支气管肺活检(TBLB)和支气管肺泡灌洗(BAL)从血液系统疾病患者中获得肺标本。对标本进行mNGS对病原微生物进行测序,送实验室进行检查和病理分析。此外,分析患者的临床资料和病原学特点。在TBLB和BAL标本之间比较了mNGS对病原微生物测序的敏感性和特异性。
    结果:在这项研究中,感染性肺炎的诊断主要包括巨细胞病毒性肺炎,肺孢子虫肺炎(PCP),肺曲霉病,和肺结核。一些患者有非感染性肺部并发症,临床和治疗结果被诊断为移植物抗宿主病(GVHD),特发性肺炎综合征(IPS),和迟发性肺毒性综合征(DPTS)。mNGS对肺组织病原微生物的敏感性优于肺泡灌洗液,而与肺泡灌洗液相比,其特异性降低。
    结论:这项研究的结果表明,联合虚拟支气管镜导航(直接路径),径向EBUS,超薄支气管镜检查,和ROSE的目标控制标本减少出血的风险,它们与mNGS的联合对血液病患者的疑难肺部病变具有很高的诊断价值,尤其是在感染诊断领域。TBLB和BAL标本在mNGS分析的特异性和灵敏度方面具有各自的优势。
    BACKGROUND: The purpose of this study was to evaluate the diagnostic value of combined virtual bronchoscopic navigation (Direct Path), radial endobronchial ultrasound with guide-sheath (EBUS), ultrathin bronchoscopy, rapid on-site evaluation of cytology (ROSE), and metagenomic next-generation sequencing (mNGS) for difficult lung lesions in patients with haematological diseases.
    METHODS: In this study, lung specimens were obtained from patients with haematological diseases by transbronchial lung biopsy (TBLB) and bronchoalveolar lavage (BAL). The specimens were subjected to mNGS for sequencing of pathogenic microorganisms and sent to the laboratory for examination and pathological analysis. Additionally, the clinical data and pathogenic characteristics of the patients were analysed. The sensitivity and specificity of mNGS for sequencing pathogenic microorganisms were compared between TBLB and BAL specimens.
    RESULTS: In this study, the diagnosis of infectious pneumonia mainly included cytomegalovirus pneumonia, Pneumocystis jirovecii pneumonia (PCP), pulmonary aspergillosis, and tuberculosis. Some patients had non-infectious pulmonary complications, and the clinical and therapeutic outcomes were diagnosed as graft-versus-host disease (GVHD), idiopathic pneumonia syndrome (IPS), and delayed pulmonary toxicity syndrome (DPTS). The sensitivity of mNGS for pathogenic microbes in lung tissue is better than that of alveolar lavage fluid, whereas compared with alveolar lavage fluid, its specificity is reduced.
    CONCLUSIONS: The results of this study indicate that combined virtual bronchoscopic navigation (Direct Path), radial EBUS, ultrathin bronchoscopy, and ROSE of target control specimens reduce the risk of bleeding, and their combination with mNGS has high diagnostic value for difficult lung lesions in patients with haematological diseases, especially in the field of infection diagnosis. TBLB and BAL specimens have respective advantages in specificity and sensitivity for mNGS analysis.
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  • 文章类型: News
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  • 文章类型: Journal Article
    OBJECTIVE: Congenital neutropaenia is a rare inherited disorder that mainly affects neutrophils causing severe infection. Mutations in several genes have been implicated in the disease pathogenesis. The genetic defects may vary in different populations, influenced by ethnicity and geographical location. Here we describe the clinical and genotypic characteristics of seven unrelated Thai cases with congenital neutropaenia.
    METHODS: Seven unrelated patients with congenital neutropaenia were enrolled (5 female and 2 male) at King Chulalongkorn Memorial Hospital, Bangkok, Thailand. Clinical and laboratory data were collected. Whole exome sequencing (WES) analysis was performed in all cases.
    RESULTS: WES successfully identified disease-causing mutations in the ELANE gene in all cases, including two novel ones: a heterozygous 12 base pair (bp) inframe insertion (c.289_300dupCAGGTGTTCGCC; p.Q97_A100dup) and a heterozygous 18 bp inframe deletion (c.698_715delCCCCGGTGGCACAGTTTG; p.A233_F238delAPVAQF). Five other previously described ELANE mutations (p.Arg103Pro, p.Gly214Arg, p.Trp241X, p.Ser126Leu and p.Leu47Arg) were also detected.
    CONCLUSIONS: All Thai patients with congenital neutropaenia in this study harboured causative mutations in the ELANE gene, suggesting it the most common associated with the disease. Two novel mutations were also identified, expanding the genotypic spectrum of ELANE.
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