Rare lung diseases

罕见肺部疾病
  • 文章类型: Case Reports
    颗粒细胞瘤很少见,主要是由施万细胞产生的良性肿块。他们的病理生理学知之甚少,但是病变通常出现在乳房,舌头,和皮肤。在这个案例报告中,我们讨论了一名34岁的复发性肺炎患者。病人有几种合并症,并因呼吸窘迫而插管,最终进行气管造口术。在手术过程中,她被发现有右中叶支气管内病变。将其切除并鉴定为颗粒细胞瘤。患者后来脱离呼吸机并出院,没有任何并发症。
    Granular cell tumours are rare, mostly benign masses that arise from Schwann cells. Their pathophysiology is poorly understood, but the lesions are often seen in the breast, tongue, and skin. In this case report, we discuss a 34-year-old patient with recurrent pneumonia. The patient had several comorbidities, and was intubated due to respiratory distress and eventually placed on tracheostomy. During the procedure, she was noted to have a right middle lobe endobronchial lesion. It was excised and identified as a granular cell tumour. The patient was later weaned off the ventilator and discharged without any complications.
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  • 文章类型: Case Reports
    甲氧苄啶-磺胺甲恶唑(TMP-SMX)是一种罕见的急性呼吸窘迫综合征,而是常用抗生素的严重并发症。TMP-SMX通常影响年轻人,在其他方面,具有特定人类白细胞抗原类型(HLA-B*07:02和HLA-C*07:02)的患者也很好。这种情况知之甚少,其独特的病理外观和机制尚不清楚。死亡率超过三分之一。我们描述了以前接受TMP-SMX延长疗程治疗的18岁女性复杂尿路感染的情况,该患者发展为快速进行性呼吸衰竭,需要长期重症监护入院。体外膜充氧,和最终的肺移植。没有针对性的治疗,需要进一步的研究来更好地了解疾病的发病机制和潜在的治疗干预措施.
    Trimethoprim-sulfamethoxazole (TMP-SMX) acute respiratory distress syndrome (ARDS) is a rare, but severe complication of a commonly prescribed antibiotic. TMP-SMX typically affects young, otherwise well patients with a specific human leukocyte antigen type (HLA-B*07:02 and HLA-C*07:02). The condition is poorly understood with a unique pathological appearance and mechanism that remains unclear. Mortality rate is greater than one third. We describe the case of a previously well 18-year-old woman treated with a prolonged course of TMP-SMX for a complex urinary tract infection who developed rapidly progressive respiratory failure requiring prolonged intensive care admission, extra-corporeal membranous oxygenation, and eventual lung transplantation. No targeted treatment exists, further research is required to better understand disease pathogenetic mechanisms and potential therapeutic interventions.
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  • 文章类型: Case Reports
    严重的狼疮肺炎是系统性红斑狼疮(SLE)的一种罕见且危及生命的并发症,其特点是进展迅速,死亡率高。该病例报告描述了一名患有狼疮性肾炎的年轻土著女性的临床轨迹和治疗管理,该女性患有严重的狼疮性肺炎。尽管在长期免疫抑制治疗下她的肾脏状况稳定,她经历了急性呼吸窘迫,导致她进入重症监护室并随后进行机械通气。由于难以获得组织活检,诊断过程变得复杂,需要依靠临床判断和放射学证据来制定诊断。患者接受脉冲静脉注射甲基强的松龙治疗,然后接受利妥昔单抗输注,导致显著的临床和放射学改善。此病例强调了早期和强化免疫抑制治疗在严重狼疮肺炎管理中的重要性,并强调了多学科方法在克服诊断歧义方面的实用性。此外,它有助于越来越多的证据支持利妥昔单抗在严重狼疮肺炎病例中的疗效,当常规管理策略不足或不合适时,提供潜在治疗途径的见解。
    Severe lupus pneumonitis is a rare and life-threatening complication of systemic lupus erythematosus (SLE), characterized by its rapid progression and high mortality rate. This case report describes the clinical trajectory and therapeutic management of a young Aboriginal female with established lupus nephritis who developed severe lupus pneumonitis. Despite her stable renal condition under long-term immunosuppressive treatment, she experienced acute respiratory distress, leading to her admission to the intensive care unit and subsequent mechanical ventilation. The diagnostic process was complicated by the difficulty in obtaining tissue biopsies, necessitating reliance on clinical judgement and radiological evidence to formulate a diagnosis. The patient was treated with pulsed intravenous methylprednisolone followed by rituximab infusions, resulting in significant clinical and radiological improvement. This case highlights the importance of early and intensive immunosuppressive therapy in the management of severe lupus pneumonitis and underscores the utility of a multidisciplinary approach in overcoming diagnostic ambiguities. Furthermore, it contributes to the growing body of evidence supporting the efficacy of rituximab in severe lupus pneumonitis cases, offering insights into potential therapeutic avenues when conventional management strategies are inadequate or unsuitable.
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  • 文章类型: Journal Article
    背景:耐多药结核病是一种对至少一线抗结核药物具有抗性的结核病,即,利福平和异烟肼.然而,这些研究大多仅限于一家医院.因此,本研究旨在确定埃塞俄比亚提格雷地区接受结核病治疗的成人耐多药结核病的决定因素.
    方法:以医院为基础的无匹配病例对照研究于2019年4月1日至2019年6月30日进行。使用简单随机抽样方法来选择所需的样本量。将双变量分析中p值小于0.25的变量输入多变量分析,以确定耐多药结核病的决定因素。最后,显著性水平为p<0.05。
    结果:农村住宅(调整后OR(AOR)2.54;95%CI1.34至4.83),HIV(AOR4.5;95%CI1.4至14.2),复发(AOR3.86;95%CI1.98至7.5),失去随访后的回报(AOR6.29;95%CI1.64至24.2),治疗失败(AOR5.87;95%CI1.39~24.8)是耐多药结核病的决定因素之一.
    结论:农村住宅,艾滋病毒,复发,失访后复发和治疗失败是确定的耐多药结核病的决定因素.
    BACKGROUND: Multidrug-resistant tuberculosis is a type of tuberculosis that is resistant to at least the first-line antituberculosis drugs namely, rifampicin and isoniazid. However, most of these studies were limited only to a single hospital. Therefore, this study aimed to identify the determinants of multidrug-resistant tuberculosis among adults undergoing treatment for tuberculosis in the Tigray region of Ethiopia.
    METHODS: Hospital-based unmatched case-control study was conducted from 1 April 2019 to 30 June 2019. A simple random sampling method was used to select the required sample size. Variables at a p value less than 0.25 in bivariate analysis were entered into a multivariable analysis to identify the determinant factors of multidrug-resistant tuberculosis. Finally, the level of significance was declared at p<0.05.
    RESULTS: Rural residence (adjusted OR (AOR) 2.54; 95% CI 1.34 to 4.83), HIV (AOR 4.5; 95% CI 1.4 to 14.2), relapse (AOR 3.86; 95% CI 1.98 to 7.5), return after lost follow-up (AOR 6.29; 95% CI 1.64 to 24.2), treatment failure (AOR 5.87; 95% CI 1.39 to 24.8) were among the determinants of multidrug-resistant tuberculosis.
    CONCLUSIONS: Rural residence, HIV, relapses, return after lost follow-up and treatment failure were the identified determinant factors of multidrug-resistance tuberculosis.
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  • 文章类型: Journal Article
    背景:胸膜肺母细胞瘤(PPB),与DICER1相关的肿瘤易感性相关的标志性肿瘤,其特征是从囊性病变(I型)到具有囊性和实性混合特征(II型)或纯粹实性病变(III型)的高级别肉瘤的年龄相关进展。并非所有囊性PPBs均有进展;Ir型(消退),假设表示回归或未进展的I型PPB,是一个充满空气的,缺乏原始肉瘤成分的囊性病变。这项研究旨在评估通过CT扫描在青少年和成年人中发现的非进展性肺囊肿的患病率,这些性系DICER1致病性/可能致病性(P/LP)变异。
    方法:个人被纳入国家癌症研究所DICER1综合征自然史研究,国际PPB/DICER1注册和/或国际卵巢和睾丸间质肿瘤注册。选择12岁或以上的首次胸部CT具有种系DICER1P/LP变异的个体进行此分析。
    结果:在组合数据库中,确定了110名具有种系DICER1P/LP变异的个体,他们在12岁或之后进行了首次胸部CT检查。38%(42/110)的肺部囊性病变被发现,总共检测到72个囊性病变。有肺囊肿的人和没有肺囊肿的人之间没有人口统计学差异。切除5个囊肿,其中4个为IrPPB型。
    结论:肺囊肿常见于有种系DICER1变异的青少年和成人。需要进一步的研究来了解儿童期肺囊肿无进展或消退的机制,以指导明智的干预。
    BACKGROUND: Pleuropulmonary blastoma (PPB), the hallmark tumour associated with DICER1-related tumour predisposition, is characterised by an age-related progression from a cystic lesion (type I) to a high-grade sarcoma with mixed cystic and solid features (type II) or purely solid lesion (type III). Not all cystic PPBs progress; type Ir (regressed), hypothesised to represent regressed or non-progressed type I PPB, is an air-filled, cystic lesion lacking a primitive sarcomatous component. This study aims to evaluate the prevalence of non-progressed lung cysts detected by CT scan in adolescents and adults with germline DICER1 pathogenic/likely pathogenic (P/LP) variants.
    METHODS: Individuals were enrolled in the National Cancer Institute Natural History of DICER1 Syndrome study, the International PPB/DICER1 Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline DICER1 P/LP variant with first chest CT at 12 years of age or older were selected for this analysis.
    RESULTS: In the combined databases, 110 individuals with a germline DICER1 P/LP variant who underwent first chest CT at or after the age of 12 were identified. Cystic lung lesions were identified in 38% (42/110) with a total of 72 cystic lesions detected. No demographic differences were noted between those with lung cysts and those without lung cysts. Five cysts were resected with four centrally reviewed as type Ir PPB.
    CONCLUSIONS: Lung cysts are common in adolescents and adults with germline DICER1 variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention.
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  • 文章类型: Case Reports
    热抗性胆汁分枝杆菌是一种耐热的非结核分枝杆菌,很少导致人类感染。尽管免疫抑制已被确定为感染的危险因素,分枝杆菌实验室可能先前未充分认识到热抵抗病分枝杆菌,因为标准分枝杆菌培养温度对于该生物体的培养并不理想.这里,我们介绍了一例严重的热抵抗性胆汁结核分枝杆菌肺炎伴贲门失弛缓症,在重症监护病房需要生命支持.我们推测,特定宿主和环境危险因素之间的相互作用促成了感染的获得。这种挑剔的生物感染需要使用多种抗菌剂和辅助治疗药物监测的长期治疗,尽管有残留的肺损伤,但仍可导致临床治愈。我们还回顾了文献,记录了人类感染热抵抗病分枝杆菌的病例。考虑到其与免疫抑制疾病的相关性,热抵抗性胆汁的诊断需要高度的临床怀疑。假定环境接种和同名培养物生长特征。
    Mycobacterium thermoresistibile is a thermotolerant nontuberculous mycobacterium which can rarely result in human infection. Although immunosuppression has been identified as a risk factor for infection, it is possible that mycobacterial laboratories may have previously under-recognized M. thermoresistibile as standard mycobacterial incubation temperatures are suboptimal for culture of this organism. Here, we present a case of severe M. thermoresistibile pneumonia associated with achalasia requiring life support in the intensive care unit. We speculated that the interplay between specific host and environmental risk factors contributed to acquisition of infection. Infection with this fastidious organism required prolonged treatment with multiple antimicrobials and adjunctive therapeutic drug monitoring which led to clinical cure despite residual lung injury. We also reviewed literature documenting cases of human infection with M. thermoresistibile. The diagnosis of M. thermoresistibile requires a high degree of clinical suspicion considering its association with immunosuppressive conditions, postulated environmental inoculation and eponymous culture growth characteristics.
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  • 文章类型: Case Reports
    在Sweet\'s综合征伴肺部受累的病例中,不明原因的发烧,和大细胞性贫血,在鉴别诊断中可以考虑VEXAS综合征。一名67岁的男子因不明原因发烧和Sweet's综合征而服用泼尼松龙,由于胸部阴影异常而被转诊给我们。计算机断层扫描显示非纤维化过敏性肺炎样混浊,血液检查结果显示为大细胞性贫血。他的肺部症状自发改善,但约1个月后再次加剧。甲基强的松龙脉冲疗法改善了他的病情,但治疗后他反复出现发热和肺部受累.未在专门机构进行计划的外周血UBA1基因检测,使诊断变得困难。我们尝试小心逐渐减少甲基强的松龙,但他的大细胞性贫血导致全血细胞减少,不幸的是他死于败血症,因为中性粒细胞减少。
    In cases of Sweet\'s syndrome with pulmonary involvement, fever of unknown origin, and macrocytic anaemia, VEXAS syndrome can be considered in the differential diagnosis. A 67-year-old man who was taking prednisolone for a fever of unknown origin and Sweet\'s syndrome was referred to us because of an abnormal chest shadow. Computed tomography revealed a nonfibrotic hypersensitivity pneumonitis-like opacity, and blood test results indicated macrocytic anaemia. His pulmonary symptoms spontaneously improved but again exacerbated approximately 1 month later. Methylprednisolone pulse therapy improved his condition, but he had recurring fever flare and pulmonary involvement post-treatment. A peripheral blood UBA1 gene test planned at a specialized institution was not performed, making the diagnosis difficult. We attempted careful tapering of methylprednisolone, but his macrocytic anaemia led to pancytopenia and he unfortunately died of sepsis due to neutropenia.
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  • 文章类型: Case Reports
    叶内肺隔离症的特征在计算机断层扫描(CT)上有所不同。许多病例表现为下叶内的肿块或囊性病变。我们在这里报告了一个55岁的病例,女性患者出现右背痛。对比增强(CE)CT显示多个,结节状,肺部病变提示周围局灶性肺气肿反复感染。三维(3D)重建显示了一个隔离的肺段,动脉供血.基于这些发现,诊断为叶内肺隔离症。叶内肺隔离症可以表现为多个,结节状,肺部病变伴有局灶性肺气肿,而不是肿块或囊肿。具有3D重建的CE-CT对于诊断这种情况很有用。反复肺部感染的患者对叶内肺隔离症的怀疑很高。
    The features of intralobar pulmonary sequestration vary on computed tomography (CT). Many cases demonstrate a mass or cystic lesion within a lower lobe. We report herein a case of a 55-year-old, female patient presenting with right back pain. Contrast enhanced (CE) CT revealed multiple, nodular, pulmonary lesions suggesting recurrent infections with surrounding focal emphysema. Three-dimensional (3D) reconstruction demonstrated a sequestrated lung segment with a systemic, arterial blood supply. Based on these findings, intralobar pulmonary sequestration was diagnosed. Intralobar pulmonary sequestration can present as multiple, nodular, pulmonary lesions with focal emphysema rather than as a mass or cyst. CE-CT with 3D reconstruction is useful for diagnosing this condition. Patients with recurrent pulmonary infections have a high index of suspicion of intralobar pulmonary sequestration.
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  • 文章类型: Journal Article
    暂无摘要。
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  • 文章类型: Journal Article
    背景:特发性胸膜实质纤维弹性增生症(iPPFE),进行性纤维化疾病,特征是上叶占优势的肺纤维化,涉及胸膜和胸膜下肺实质。然而,目前尚无针对这种情况的预后标志物。已经报道了特发性肺纤维化患者的血白细胞水平与死亡率之间的关联;因此,我们假设iPPFE患者外周血白细胞水平与死亡风险相关.
    方法:这项回顾性研究纵向评估了两组127例iPPFE患者在诊断时和诊断后1年的外周血白细胞计数(Seirei和Hamamatsu队列中的69例和58例患者,分别)。
    结果:对外周血白细胞的综合评估显示,校正年龄后,中性粒细胞-淋巴细胞比率(NLR)与iPPFE患者的死亡率相关,多变量分析中的性别和强迫肺活量(调整后的HR,1.131;95%CI,1.032至1.227)。当根据NLR中位数对患者进行分类时,NLR高的人比NLR低的人生存期短(中位数,32.2vs79.8个月;HR,2.270;95%CI,1.416至3.696)。有趣的是,NLR中位数分类的结果在>70%的患者中纵向保留,NLR持续高的患者比其他患者死亡风险更高(中位数,24.8vs79.6个月;HR,3.079;95%CI,1.878至5.031)。与性别-年龄-生理模型相比,包含年龄的复合模型,性别和NLR可以成功地将iPPFE患者根据死亡风险分为三组.
    结论:外周白细胞计数的评估很容易,可能有助于评估iPPFE患者的疾病严重程度和死亡风险。我们的研究表明,在日常实践中关注周围白细胞水平的重要性。
    Idiopathic pleuroparenchymal fibroelastosis (iPPFE), a progressive fibrotic disease, is characterised by upper lobe-dominant lung fibrosis involving the pleura and subpleural lung parenchyma. However, no prognostic markers have been established for this condition. Associations between blood leucocyte levels and mortality have been reported in patients with idiopathic pulmonary fibrosis; therefore, we hypothesised that peripheral leucocyte levels are associated with mortality risk in patients with iPPFE.
    This retrospective study longitudinally assessed peripheral leucocyte counts at the time of diagnosis and 1 year after diagnosis in two cohorts of 127 patients with iPPFE (69 and 58 patients in Seirei and Hamamatsu cohorts, respectively).
    A comprehensive assessment of peripheral leucocytes revealed that the neutrophil-lymphocyte ratio (NLR) was associated with mortality in patients with iPPFE after adjusting for age, sex and forced vital capacity in multivariate analyses (adjusted HR, 1.131; 95% CI, 1.032 to 1.227). When the patients were classified based on the median NLR, those with a high NLR had shorter survival than those with a low NLR (median, 32.2 vs 79.8 months; HR, 2.270; 95% CI, 1.416 to 3.696). Interestingly, the results of the NLR classification by median were longitudinally preserved in >70% of patients, and patients with consistently high NLR were at a higher risk of mortality than others (median, 24.8 vs 79.6 months; HR, 3.079; 95% CI, 1.878 to 5.031). Compared with the gender-age-physiology model, a composite model comprising age, sex and NLR could successfully stratify patients with iPPFE into three groups according to mortality risk.
    The assessment of peripheral leucocyte counts is easy and might be useful in evaluating disease severity and mortality risk in patients with iPPFE. Our study suggests the importance of focusing on peripheral leucocyte levels in daily practice.
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