Metagenomic next-generation sequencing

宏基因组下一代测序
  • 文章类型: Case Reports
    BACKGROUND: Leprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae) that is responsible for deformities and irreversible peripheral nerve damage and has a broad spectrum of clinical and serological manifestations. Leprosy primarily affects the peripheral nerves and rarely presents with central nervous system involvement. Diagnosing leprosy can still be difficult in some cases, especially when the infection involves uncommon clinical manifestations and extracutaneous sites. Delayed diagnosis and treatment of leprosy may lead to irreversible damage and death.
    METHODS: We report a case of a 30-year-old female presenting with \"repeated high fever with symptoms of headache for 14 days\". On the day of admission, physical signs of lost eyebrows and scattered red induration patches all over her body were observed. The patient\'s diagnosis was based on the clinical characteristics using a combination of metagenomic next-generation sequencing (mNGS) of cerebrospinal fluid (CSF) and slit-skin smear. After confirming Listeria meningitis and multibacillary leprosy with erythema nodosum leprosum (ENL), a type 2 reaction, she was treated with ampicillin sodium, dapsone, rifampicin, clofazimine, methylprednisolone, and thalidomide. At the 1-year follow-up, the frequency and severity of headaches have significantly decreased and a good clinical response with improved skin lesions was found.
    CONCLUSIONS: This case highlights the importance of considering leprosy, which is a rare and underrecognized disease, in the differential diagnosis of skin rashes with rheumatic manifestations, even in areas where the disease is not endemic, and physicians should be alerted about the possibility of central nervous system infections. In addition, mNGS can be used as a complementary diagnostic tool to traditional diagnostic methods to enhance the diagnostic accuracy of leprosy.
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  • 文章类型: Case Reports
    卡氏棘阿米巴感染是一种罕见的疾病,主要发生在免疫功能低下的患者中,死亡率极高。目前,这种情况没有标准的治疗方法,成功的治疗报告很少。
    我们介绍了一例63岁女性艾滋病患者感染卡斯特阿米巴的病例,他因发烧症状入院,皮肤溃疡,皮下结节,进食时鼻子的食物反流。在最初的经验治疗失败后,对皮下结节进行了活检,宏基因组下一代测序(mNGS)技术用于检测活检标本和血液样本中的病原微生物。结果显示卡氏棘阿米巴感染。此外,活检标本的组织病理学检查和溃疡表面分泌物的细胞学检查也证实了这种致病性感染。在调整治疗方案以抗阿米巴治疗的组合后,患者的症状在出院时显著改善。
    出现不明原因发热和皮肤或鼻窦病变的免疫功能低下患者应进行卡氏棘阿米巴感染评估。这种生物感染需要多种药物联合治疗,标准治疗方案仍需进一步研究。宏基因组下一代测序是早期诊断未知病原体感染的有价值的工具。
    UNASSIGNED: Acanthamoeba castellanii infection is a rare condition primarily occurring in immunocompromised patients with extremely high mortality. Currently, there is no standard treatment for this condition, and successful treatment reports are scarce.
    UNASSIGNED: We present a case of Acanthamoeba castellanii infection in a 63-year-old female patient with AIDS, who was admitted to our hospital with symptoms of fever, skin ulcers, subcutaneous nodules, and food regurgitation from the nose while eating. After initial empirical treatment failed, a biopsy of the subcutaneous nodule was performed, and metagenomic next-generation sequencing (mNGS) technology was used to detect pathogenic microorganisms in both the biopsy specimen and blood samples. The results revealed Acanthamoeba castellanii infection. Additionally, histopathological examination of the biopsy specimen and cytological examination of the secretions from the ulcer surface also confirmed this pathogenic infection. The patient\'s symptoms significantly improved upon discharge after adjusting the treatment regimen to a combination of anti-amebic therapy.
    UNASSIGNED: Immunocompromised patients presenting with unexplained fever and skin or sinus lesions should be evaluated for Acanthamoeba castellanii infection. Multi-drug combination therapy is required for this organism infection, and a standard treatment protocol still needs further research. Metagenomic next-generation sequencing is a valuable tool for early diagnosis of unknown pathogen infections.
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  • 文章类型: Case Reports
    一名71岁的男性患有播散性多器官功能障碍综合征(MODS)。头孢噻肟和哌拉西林他唑巴坦治疗后,他的症状反而恶化了。基于宏基因组下一代测序(mNGS)诊断由日本斑点热(JSF)引起的多器官衰竭,我们迅速用多西环素治疗病人。此后,他的症状逐渐好转。在这份报告中,我们强调了快速微生物诊断工具和早期使用四环素治疗JSF的重要性.
    A 71-year-old male had disseminated multiple organ dysfunction syndrome (MODS). Following treatment with cefotaxime and piperacillin-tazobactam, his symptoms have worsened instead. Multiple organ failure caused by Japanese Spotted Fever (JSF) was diagnosed based on metagenomic next-generation sequencing (mNGS), we rapidly treated the patient with doxycycline. Thereafter, his symptoms gradually improved. In this report, we emphasized the importance of rapid microbial diagnostic tools and the early use of tetracyclines for the treatment of JSF.
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  • 文章类型: Journal Article
    背景:Q发烧,由人畜共患病原体伯氏杆菌引起,表现出世界性流行。在中国,Q发烧不被认为是应报告的疾病,这种疾病在临床实践中被忽视和低估,导致诊断挑战。
    方法:我们介绍了在2022年至2023年之间诊断为持续Q热的3例患者的病例系列。我们三例病例的平均年龄为63.33岁,由两名男性和一名女性组成。这些人的病史包括以前的瓣膜置换,动脉瘤,然后进行主动脉支架植入术和人工髋关节置换。在疾病发作时,只有一例出现急性发热,其余两例无任何急性症状。病因最初被忽略,直到宏基因组下一代测序测试从血液或活检样本中鉴定出伯氏柯西氏菌。发现诊断延迟,从疾病发作到确认之间的持续时间从三个月到一年不等。流行病学史发现,这三例病例均未直接接触家畜或食用未经巴氏消毒的乳制品。案例1和2居住在城市地区,而案例3是一名从事农业的农村居民。所有患者均接受多西环素和羟氯喹联合治疗,并且在随访期间没有观察到该疾病的复发。
    结论:Q发热在我国临床实践中很少被诊断和报道。我们应该意识到高危人群中持续的Q热,即使有平淡无奇的曝光历史。宏基因组下一代测序作为一种诊断工具,具有巨大的潜力,可用于识别稀有和挑剔的病原体,例如柯西氏菌。
    BACKGROUND: Q fever, caused by the zoonotic pathogen Coxiella burnetii, exhibits a worldwide prevalence. In China, Q fever is not recognized as a notifiable disease, and the disease is overlooked and underestimated in clinical practice, leading to diagnostic challenges.
    METHODS: We present a case series of three patients diagnosed with persistent Q fever between 2022 and 2023. The average age of our three cases was 63.33 years old, consisting of two males and one female. The medical history of the individuals included previous valve replacement, aneurysm followed by aortic stent-graft placement and prosthetic hip joint replacement. At the onset of the disease, only one case exhibited acute fever, while the remaining two cases were devoid of any acute symptoms. The etiology was initially overlooked until metagenomic next-generation sequencing test identified Coxiella burnetii from the blood or biopsy samples. Delayed diagnosis was noted, with a duration ranging from three months to one year between the onset of the disease and its confirmation. The epidemiological history uncovered that none of the three cases had direct exposure to domestic animals or consumption of unpasteurized dairy products. Case 1 and 2 resided in urban areas, while Case 3 was a rural resident engaged in farming. All patients received combination therapy of doxycycline and hydroxychloroquine, and no recurrence of the disease was observed during the follow-up period.
    CONCLUSIONS: Q fever is rarely diagnosed and reported in clinical practice in our country. We should be aware of persistent Q fever in high-risk population, even with unremarkable exposure history. Metagenomic next-generation sequencing holds great potential as a diagnostic tool for identifying rare and fastidious pathogens such as Coxiella burnetii.
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  • 文章类型: Journal Article
    背景:军团菌肺炎是非典型肺炎中最严重的类型之一,损害多器官系统,对生命构成威胁.由于培养细菌的困难以及免疫测定灵敏度和特异性的限制,军团菌肺炎的诊断具有挑战性。
    方法:本文报道一例罕见的由嗜肺军团菌和坏死梭菌联合感染引起的脓毒症,导致呼吸衰竭,急性肾损伤,急性肝损伤,心肌损伤,和电解质紊乱。此外,我们系统回顾了军团菌联合感染患者的文献,分析他们的临床特征,实验室结果和诊断。
    结论:对于需要延长潜伏期且对常规培养方法不太敏感的病原体,宏基因组下一代测序(mNGS)可以作为病原体筛查的有力补充,在复杂传染病的辅助诊断中起着重要作用。
    BACKGROUND: Legionella pneumonia is one of the most severe types of atypical pneumonia, impairing multiple organ systems, posing a threat to life. Diagnosing Legionella pneumonia is challenging due to difficulties in culturing the bacteria and limitations in immunoassay sensitivity and specificity.
    METHODS: This paper reports a rare case of sepsis caused by combined infection with Legionella pneumophila and Fusobacterium necrophorum, leading to respiratory failure, acute kidney injury, acute liver injury, myocardial damage, and electrolyte disorders. In addition, we systematically reviewed literature on patients with combined Legionella infections, analyzing their clinical features, laboratory results and diagnosis.
    CONCLUSIONS: For pathogens that require prolonged incubation periods and are less sensitive to conventional culturing methods, metagenomic next-generation sequencing (mNGS) can be a powerful supplement to pathogen screening and plays a significant role in the auxiliary diagnosis of complex infectious diseases.
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  • 文章类型: Journal Article
    This case report summarizes the experience from diagnosis and treatment of a patient with repeated high fever, hepatosplenomegaly and pancytopenia. Following exclusion of bacterial, viral, fungal infections and hematological diseases, metagenomic next-generation sequencing of the patient\'s peripheral blood revealed Leishmania infantum infection, and rK39 rapid diagnostic test showed positive for anti-Leishmania antibody, while microscopic examination of bone marrow smears identified Leishmania amastigotes. Therefore, the case was definitively diagnosed as visceral leishmaniasis, and given anti-infective treatment with sodium antimony gluconate and hormone, hepatoprotection, elevation of white blood cell counts and personalized nursing. Then, the case was cured and discharged from hospital. Metagenomic next-generation sequencing is of great value in etiological detection of fever patients with unknown causes, which deserves widespread clinical applications.
    [摘要] 1 例患者因 “反复高热、肝脾肿大、伴全血细胞减少待查” 收住入院, 排除细菌、病毒、真菌感染及血液系统疾病 后, 采集患者外周血行宏基因组二代测序, 结果显示婴儿利什曼原虫感染。rk39 快速诊断试剂检测显示抗利什曼原虫抗 体阳性, 骨髓涂片检出利什曼原虫无鞭毛体, 最终确诊为内脏利什曼病。给予葡萄糖酸锑钠、激素进行抗感染、保肝、升 白细胞等治疗及个性化护理后, 患者康复出院。宏基因组测序技术在不明原因发热患者病因检测中具有重要价值, 值得 临床推广应用。.
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  • 文章类型: Journal Article
    背景:人类嗜色杆菌分布广泛,主要感染免疫功能受损的患者。历史上,O.anthropi被认为具有低毒性和致病性;然而,最近的研究表明,它实际上可能导致严重的化脓性感染。在这个案例研究中,我们检查了一例角膜移植后的O.anthropi感染,探讨此类术后感染的发生和结果。
    方法:回顾性分析涉及检查的病例,基因检测用于诊断,以及后续治疗。在接受部分穿透性角膜移植术并伴有真菌性角膜溃疡穿孔的患者中,术后观察到前房渗出和化脓。尽管有抗真菌治疗,前房液和化脓性物质的遗传测试证实了O.人品感染。发现使用特异性靶向O.anthropi的抗微生物治疗可有效治疗感染。
    结论:应监测角膜移植后的炎症反应是否存在其他感染。基因检测对临床诊断和治疗具有重要意义。
    BACKGROUND: Ochrobactrum anthropi is widely distributed and primarily infects patients with compromised immune functions . Historically, O. anthropi has been considered to possess low toxicity and pathogenicity; however, recent studies suggest that it may in fact cause severe purulent infections. In this case study, we examine a case of O. anthropi infection following corneal transplantation, exploring the occurrence and outcomes of such post-operative infections.
    METHODS: A retrospective analysis of cases involved examinations, genetic testing for diagnosis, and subsequent treatment. In patients undergoing partial penetrating keratoplasty with a fungal corneal ulcer perforation, anterior chamber exudation and purulence were observed post-surgery. Despite antifungal treatment, genetic testing of the anterior chamber fluid and purulent material confirmed O. anthropi infection. The use of antimicrobial treatment specifically targeting O. anthropi was found to be effective in treating the infection.
    CONCLUSIONS: Inflammatory reactions following corneal transplantation should be should be monitored for the presence of other infections. Genetic testing has significant implications for clinical diagnosis and treatment.
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  • 文章类型: Case Reports
    猪链球菌是猪病原体之一,最近已成为能够在某些人中引起人畜共患病的病原体。感染猪链球菌的患者可能会出现败血症,脑膜炎,或关节炎。与常见病原体相比,比如脑膜炎球菌,肺炎链球菌,和流感嗜血杆菌,人类猪链球菌感染的报道很少。
    该病例报告描述了一名57岁的男子,他在几天的背痛后出现意识障碍和发热。他是一名屠夫,在屠宰场工作,两周前受伤。患者依赖酒精近40年。通过宏基因组下一代测序在脑脊液中检测到猪链球菌。尽管他接受了足够的美罗培南和低剂量类固醇治疗,该患者在感染5天后患有双侧突发性耳聋。最终诊断为猪链球菌脑膜炎和败血症。
    患者在60天的随访中幸存下来,双耳听力损失和头晕。
    我们报告一例猪链球菌感染,表现为化脓性脑膜炎和败血症。根据世界各地发表的文献,人类猪链球菌脑膜炎在神经系统中表现为急性发作和快速进展。类似于细菌性脑膜炎,有效的抗生素,低剂量类固醇在人类猪链球菌脑膜炎的治疗中起重要作用。
    UNASSIGNED: Streptococcus suis is one of the porcine pathogens that have recently emerged as a pathogen capable of causing zoonoses in some humans. Patients infected with S. suis can present with sepsis, meningitis, or arthritis. Compared to common pathogens, such as Meningococcus, Streptococcus pneumoniae, and Haemophilus influenzae, S. suis infections in humans have been reported only rarely.
    UNASSIGNED: This case report described a 57-year-old man who presented with impaired consciousness and fever following several days of backache. He was a butcher who worked in an abattoir and had wounded his hands 2 weeks prior. The patient was dependent on alcohol for almost 40 years. S. suis was detected in the cerebrospinal fluid by metagenomic next-generation sequencing. Although he received adequate meropenem and low-dose steroid therapy, the patient suffered from bilateral sudden deafness after 5 days of the infection. The final diagnosis was S. suis meningitis and sepsis.
    UNASSIGNED: The patient survived with hearing loss in both ears and dizziness at the 60-day follow-up.
    UNASSIGNED: We reported a case of S. suis infection manifested as purulent meningitis and sepsis. Based on literature published worldwide, human S. suis meningitis shows an acute onset and rapid progression in the nervous system. Similar to bacterial meningitis, effective antibiotics, and low-dose steroids play important roles in the treatment of human S. suis meningitis.
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  • 文章类型: Case Reports
    内脏利什曼病(VL),也被称为kala-azar,是由沙蝇叮咬传播给人类的细胞内寄生虫引起的,感染源主要是狗。这种疾病的主要特征是不规则发热,减肥,肝脾肿大和贫血。诊断主要依靠骨髓抽吸试验来发现利什曼-多诺万(LD)尸体。我们报告的病例没有发热症状,丙型肝炎病毒抗体可能是假阳性。
    该病例是一名居住在阳泉市的74岁男性,山西省,VL流行区。他表现出全身不适,由于抓挠而导致皮肤上的肝脾肿大和疤痕色素沉着。实验室检查显示全血细胞减少症,丙型肝炎病毒抗体(HCV-Ab)阳性,阳性直接抗人球蛋白试验(DAT),抗心磷脂抗体阳性IgG,IgM(+),免疫球蛋白IgG增加。给予保肝和输血等对症治疗,但患者的症状仍然存在,他的脾脏和肝脏进一步扩大。进行了进一步的重复测试,发现丙型肝炎病毒抗体和抗原均为阴性。通过rk39快速诊断测试和宏基因组下一代测序(mNGS),最终发现患者感染了利什曼原虫。用葡萄糖酸钠治疗一个疗程后,患者迅速缓解。
    VL患者可能会导致免疫系统异常,导致各种抗体的假阳性,没有明显的发热症状,导致误诊或延误诊断。在具有相关流行病学史的明显肝脾肿大的情况下,重要的是考虑VL。如果无法通过骨髓穿刺证实诊断,并且患者不适合进行脾穿刺,rk39检验可用于初始排除,并通过mNGS进一步验证。
    UNASSIGNED: Visceral leishmaniasis (VL), also known as kala-azar, is caused by an intracellular parasite transmitted to humans by the bite of a sand fly, and with the source of the infection mainly being dogs. The main features of the disease are irregular fever, weight loss, hepatosplenomegaly and anaemia. Diagnosis relies mainly on bone marrow aspiration tests to find Leishman-Donovan(LD) bodies. And we report the case without febrile symptoms and hepatitis C virus antibody was probably false positive.
    UNASSIGNED: The case was a 74-year-old male residing in Yangquan City, Shanxi Province, a VL endemic area. He presented with generalised malaise, hepatosplenomegaly and scarring pigmentation on the skin as a result of scratching. Laboratory tests showed pancytopenia, positive hepatitis C virus antibody (HCV-Ab), positive direct anti-human globulin test (DAT), positive anti-cardiolipin antibody IgG, IgM (+), and increased immunoglobulin IgG. Symptomatic treatments such as hepatoprotection and blood transfusion were given, but the patient\'s symptoms still persisted and his spleen and liver further enlarged. Further repeat tests were performed and found to be negative for hepatitis C virus antibodies and antigens. The patient was eventually found to be infected with Leishmania protozoa by rk39 rapid diagnostic test and metagenomic next-generation sequencing(mNGS). And the patient quickly relieved after one course of treatment with sodium stibogluconate.
    UNASSIGNED: Patients with VL may cause abnormalities in the immune system, leading to false positives for various antibodies without clear febrile symptoms, resulting in misdiagnosis or delayed diagnosis. It is important to consider VL in cases where there is a significant hepatosplenomegaly with a relevant epidemiological history. If the diagnosis cannot be confirmed through bone marrow aspiration and the patient is not suitable for splenic aspiration, the rk39 test can be used for initial exclusion and further verified through mNGS.
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  • 文章类型: Case Reports
    背景:血小板减少综合征(SFTS)是由SFTS病毒(SFTSV)引起的蜱传疾病,有可能成为大流行,目前是主要的公共卫生问题。
    方法:我们介绍了一个来自重庆市区的74岁女性的案例,白细胞减少症,血小板减少症,器官功能,炎症,血液凝固,和免疫异常。通过分子检测和宏基因组下一代测序(mNGS)分析证实了SFTSV感染,由于患者的蜱叮咬史,表明SFTS的诊断。患者接受对症和支持治疗,包括抗生素,抗病毒治疗,和抗真菌治疗,终于在第18天出院了.
    结论:这项研究强调了提高意识的必要性,早期诊断,并迅速治疗蜱传SFTS。它还提供了一个全面的了解疾病的特点,发病机制,检测方法,和可用的治疗方法。
    BACKGROUND: Severe Fever with Thrombocytopenia Syndrome (SFTS) is a tick-borne disease caused by the SFTS virus (SFTSV) which has the potential to become a pandemic and is currently a major public health concern.
    METHODS: We present the case of a 74-year-old female from an urban area of Chongqing, with leukocytopenia, thrombocytopenia, organ function, inflammatory, blood coagulation, and immune abnormalities. SFTSV infection was confirmed through molecular detection and metagenomic next-generation sequencing (mNGS) analysis, indicating a diagnosis of SFTS due to the patient\'s history of tick bites. The patient received symptomatic and supportive therapy, including antibiotics, antiviral treatment, and antifungal therapy, and finally discharged from the hospital on day 18.
    CONCLUSIONS: This study highlights the need for increased awareness, early diagnosis, and prompt treatment for tick-borne SFTS. It also provides a comprehensive understanding of the disease\'s characteristics, pathogenesis, detection methods, and available treatments.
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