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Post-traumatic endophthalmitis caused by Nocardia nova. 诺卡菌引起的创伤后眼内炎。
Pub Date : 2019-02-20 eCollection Date: 2019-02-01 DOI: 10.1099/jmmcr.0.005175
Jesús Rodríguez-Lozano, Carlos Armiñanzas Castillo, Carlos Ruiz de Alegría Puig, Juan Antonio Ventosa Ayarza, Maria Carmen Fariñas, Jesús Agüero, Jorge Calvo

Introduction: Nocardia nova complex has been associated with infections in both immunocompetent and immunocompromised patients. Infection can be localized or disseminated, affecting skin and soft tissues, the respiratory system, bones and joints, the circulatory system and especially the central nervous system. Ocular infections such as keratitis, scleritis, conjunctivitis, dacryocystitis, orbital cellulitis and endophthalmitis due to Nocardia spp. are infrequently reported, and usually described after penetrating corneal trauma or ocular contact with plants and soils.

Case presentation: An immunocompetent male presented with a history of penetrating ocular trauma that had evolved to infectious endophthalmitis, which was refractory to different antibiotic treatments. No micro-organisms were isolated from repeated conjunctival smear and corneal scraping cultures between the ocular trauma (August 2014) and the endophthalmitis diagnosis (November 2015). After this period, N. nova sensu stricto was isolated in aqueous humour aspirate. Treatment was adjusted and clinical improvement was obtained after an adequate microbiological procedure, including an optimal sampling and an antimicrobial-susceptibility testing report.

Conclusion: Nocardia identification to the species level and performance of antimicrobial-susceptibility tests are both essential tools for treatment adjustment and clinical improvement.

新诺卡菌复合体与免疫功能正常和免疫功能低下患者的感染有关。感染可局部或播散,影响皮肤和软组织、呼吸系统、骨骼和关节、循环系统,特别是中枢神经系统。诺卡菌引起的眼部感染,如角膜炎、巩膜炎、结膜炎、泪囊炎、眼窝蜂窝织炎和眼内炎,很少有报道,通常发生在穿透性角膜创伤或眼部与植物和土壤接触后。病例介绍:一名免疫功能正常的男性,有穿透性眼外伤的病史,后来发展为感染性眼内炎,对不同的抗生素治疗都难治。在眼外伤(2014年8月)和眼内炎诊断(2015年11月)期间,反复结膜涂片和角膜刮痧培养未分离到微生物。在这段时间后,从体液中分离出狭义新芽孢杆菌。在适当的微生物程序(包括最佳采样和抗菌药物敏感性测试报告)后,调整治疗并获得临床改善。结论:诺卡菌菌种鉴定水平和药敏试验性能是调整治疗方案和改善临床的重要工具。
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引用次数: 8
Methylobacterium infection of an arthritic knee. 膝关节炎的甲基杆菌感染。
Pub Date : 2019-01-29 eCollection Date: 2019-02-01 DOI: 10.1099/jmmcr.0.005173
Eric T Beck, Allen C Bateman, Darin Maccoux

Introduction: Osteoarthritis (OA) is a common cause of knee pain in older adults. OA is primarily caused by deterioration of cartilage in the knee, which decreases the ability of synovial fluid to absorb shock and increases the opportunity for bones of the joint to rub together. Hylan G-F 20 (Synvisc-One) is a compound that can be injected directly into the knee to help combat the pain associated with OA by lubricating and cushioning the joint.

Case presentation: A 92-year-old male reported to his primary care provider with complaints of pain due to OA. An ultrasound-guided injection of Hylan G-F 20 was administered without complication; however, the patient presented to an emergency department approximately 10 h after the injection complaining of stabbing pain and swelling in the same knee. Specimens submitted for culture 12 h post-injection yielded a Methylobacterium spp. that was identified following biochemical testing, MALDI-TOF (matrix-assisted laser desorption/ionization-time of flight) MS analysis and bacterial sequencing. Interestingly, symptoms began to subside following aspiration of synovial fluid, and new cultures of synovial fluid collected 24 h post-Hylan G-F 20 injection were negative for the presence of Methylobacterium. The patient's knee returned to baseline with diminished pain due to OA approximately 1 week after the initial injection without antibiotic treatment.

Conclusion: We report short-term complications following treatment of OA with a Methylobacterium-contaminated lot of Hylan G-F 20.

骨关节炎(OA)是老年人膝关节疼痛的常见原因。骨性关节炎主要是由膝关节软骨退化引起的,这降低了滑液吸收冲击的能力,增加了关节骨相互摩擦的机会。Hylan G-F 20 (Synvisc-One)是一种可以直接注射到膝关节的化合物,通过润滑和缓冲关节来帮助对抗OA相关的疼痛。病例介绍:一名92岁男性向他的初级保健提供者报告了由于OA引起的疼痛。超声引导下注射海兰g - f20,无并发症;然而,患者在注射后约10小时就诊于急诊科,主诉同一膝关节刺痛和肿胀。注射后12小时的标本经生化测试、MALDI-TOF(基质辅助激光解吸/电离飞行时间)质谱分析和细菌测序后鉴定为甲基杆菌。有趣的是,吸入滑液后症状开始消退,注射hylan g - f20后24小时收集的新培养的滑液中甲基杆菌的存在为阴性。患者的膝关节在初始注射后大约1周恢复到基线,由于OA引起的疼痛减轻,没有抗生素治疗。结论:我们报告了使用甲基细菌污染的Hylan G-F 20治疗OA后的短期并发症。
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引用次数: 1
Multi-drug-resistant Enterococcus faecium bacteraemia in a liver transplant recipient. 肝移植受者的多重耐药屎肠球菌菌血症。
Pub Date : 2018-12-20 eCollection Date: 2019-01-01 DOI: 10.1099/jmmcr.0.005172
Nathan A Summers, John Gharbin, Rachel Friedman-Moraco, G Marshall Lyon, Joseph Lutgring

Introduction: Enterococcus faecium is a commensal organism commonly colonizing the human gastrointestinal tract. Although it is generally a non-virulent organism, E. faecium can cause significant morbidity and mortality due to its inherent and acquired resistances to commonly used antimicrobials. Patients who are immunosuppressed are particularly vulnerable.

Case presentation: A 65-75-year-old patient with a history of an orthotopic liver transplant for hepatitis C infection and diabetes was re-admitted to the hospital with abdominal pain and fever. The patient had several recent admissions related to the presentation reported here, which included treatment with a prolonged course of broad-spectrum antibiotics. The patient was found to have a recurrent liver abscess and blood cultures grew vancomycin-resistant E. faecium, non-susceptible to all tested agents: ampicillin, penicillin, vancomycin, daptomycin and linezolid. The patient was started initially on chloramphenicol intravenously while awaiting additional susceptibility testing, which ultimately revealed chloramphenicol non-susceptibility. Tigecycline was started but the patient ultimately decided to pursue hospice care.

Conclusion: Multi-drug-resistant organisms are increasingly being recognized and are associated with poorer outcomes, particularly in immunosuppressed patients. We describe a particularly resistant organism and discuss potential therapeutic options.

简介:粪肠球菌是一种常见于人类胃肠道的共生生物。虽然它通常是一种无毒性的生物,但由于其对常用抗菌素的固有和获得性耐药性,粪肠杆菌可引起显著的发病率和死亡率。免疫抑制的患者尤其脆弱。病例介绍:65-75岁,因丙型肝炎感染和糖尿病行原位肝移植史,因腹痛和发热再次入院。该患者最近有几次与本文报道的表现相关的入院,其中包括延长疗程的广谱抗生素治疗。患者发现肝脓肿复发,血培养有耐万古霉素粪肠杆菌,对氨苄西林、青霉素、万古霉素、达托霉素和利奈唑胺等所有试验药物均不敏感。患者最初开始静脉注射氯霉素,同时等待进一步的药敏试验,最终发现氯霉素不敏感。开始使用替加环素,但患者最终决定寻求临终关怀。结论:越来越多的人认识到多重耐药生物,并且与较差的预后相关,特别是在免疫抑制患者中。我们描述了一种特别耐药的有机体,并讨论了潜在的治疗方案。
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引用次数: 3
Vibrio cholerae O6 gastroenteritis in a patient with lupus nephritis - a report from coastal Karnataka, South India. 一例狼疮性肾炎患者的O6型霍乱弧菌胃肠炎——来自印度南部沿海卡纳塔克邦的报告。
Pub Date : 2018-12-19 eCollection Date: 2019-01-01 DOI: 10.1099/jmmcr.0.005171
Mamatha Ballal, Vignesh Shetty, Sohan Rodney Bangera, Asish Mukhopadhyay, Goutam Chowdhury, Prosenjit Samanta, Akshata Prabhu, H C Anusha

Introduction: Vibrio cholerae O1 strains are responsible for pandemics of cholera and major epidemics in the world. All the remaining V. cholerae non-O1/non-O139 strains are less virulent and are responsible for sporadic cases of gastroenteritis. These non-O1/non-O139 serogroups have more than 200 somatic antigens, and mostly lack cholera toxin and toxin co-regulated pilus encoding genes. Toxigenic and non-toxigenic non-O1/non-O139 V. cholerae have caused several diarrhoeal outbreaks in India and other countries. Acute gastroenteritis is the typical clinical sign and symptom of non-O1/non-O139 V. cholerae infection for both periodical and outbreak cases; in contrast, these V. cholerae are rarely associated with extraintestinal infections.

Case presentation: Here, we present a case of a 27-year-old female with underlying kidney disease (lupus nephritis) presenting with loose stools, vomiting and fever. V. cholerae O6 was isolated from a faecal sample, which was positive for hlyA and the type III secretion system. The present case is, to the best of our knowledge, the first such case to be reported from South India.

Conclusion: The V. cholerae O6 associated with autoimmune disease in the present study demonstrates the role of this pathogen in acute gastroenteritis, and if it is left undiagnosed it can lead to septicaemia and other complications. The pathogenic mechanisms of non-O1/non-O139 V. cholerae are multivariate, virulence factors being naturally present in these strains. Therefore, further epidemiological studies are necessary to determine the virulence factors and their pathogenic mechanisms. Non-O1/non-O139 V. cholerae can undoubtedly be the cause of diarrhoea and it would be important to extend bacteriological identification in this line as well as in all cases of gastroenteritis of unknown aetiology.

01型霍乱弧菌菌株是世界上霍乱大流行和主要流行病的罪魁祸首。所有剩余的非o1 /非o139型霍乱弧菌毒株毒性较弱,可导致散发的肠胃炎病例。这些非o1 /非o139血清群有200多种体细胞抗原,并且大多缺乏霍乱毒素和毒素共调节的菌毛编码基因。产毒性和非产毒性非o1 /非o139型霍乱弧菌在印度和其他国家引起了几次腹泻疫情。急性肠胃炎是非o1 /非o139型霍乱弧菌感染的典型临床体征和症状;相反,这些霍乱弧菌很少与肠外感染有关。病例介绍:在此,我们报告一位27岁的女性,患有潜在的肾脏疾病(狼疮肾炎),表现为便稀、呕吐和发烧。从一份粪便样本中分离出霍乱弧菌O6, hlyA和III型分泌系统呈阳性。据我们所知,目前的病例是南印度报告的第一例此类病例。结论:本研究中与自身免疫性疾病相关的霍乱弧菌O6证明了该病原体在急性胃肠炎中的作用,如果不及时诊断,可能导致败血症和其他并发症。非o1 /非o139霍乱弧菌的致病机制是多元的,毒力因素自然存在于这些菌株中。因此,需要进一步的流行病学研究来确定毒力因素及其致病机制。非o1 /非o139霍乱弧菌无疑是腹泻的原因,在这方面以及在所有病因不明的肠胃炎病例中扩大细菌学鉴定是很重要的。
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引用次数: 1
Reactivation of latent Histoplasma and disseminated cytomegalovirus in a returning traveller with ulcerative colitis. 溃疡性结肠炎回国旅行者中潜伏组织浆体和弥散巨细胞病毒的再激活。
Pub Date : 2018-11-23 eCollection Date: 2018-12-01 DOI: 10.1099/jmmcr.0.005170
Olivia Lucey, Iain Carroll, Thomas Bjorn, Michael Millar

Introduction: We describe a case of progressive disseminated histoplasmosis (PDH) and disseminated cytomegalovirus (CMV) with development of haemophagocytic lymphohistiocytosis in a 62-year-old man of Bangladeshi origin living in the UK.

Case presentation: The patient had a background of ulcerative colitis for which he took prednisolone and azathioprine. He presented with fever, lethargy, cough, weight loss and skin redness, and was initially treated for bacterial cellulitis and investigated for underlying malignancy. He developed multiple progressive erythematous skin lesions, sepsis and colitis requiring management on intensive care. A skin biopsy showed yeasts in the dermis and sub-cutaneous fat, which were confirmed as Histoplasma capsulatum by PCR. Disseminated CMV with evidence of end organ gastrointestinal disease was also diagnosed. Despite anti-viral and anti-fungal treatment, the patient deteriorated with evidence of bone marrow suppression and a diagnosis of haemophagocytic lymphohistiocytosis was made.

Conclusion: PDH is classically seen in patients with significant immunosuppression, e.g. those with human immunodeficiency virus (HIV) or on anti-TNF therapy; however, we present a case of reactivation of Histoplasma in a non-HIV patient. We consider the importance of contemplating reactivation of endemic mycoses and CMV in critically unwell and deteriorating patients.

简介:我们描述了一例进展性播散性组织胞浆菌病(PDH)和播散性巨细胞病毒(CMV)与嗜血淋巴组织细胞病的发展在一个62岁的孟加拉裔男子居住在英国。病例介绍:患者有溃疡性结肠炎的背景,他服用强的松龙和硫唑嘌呤。他表现为发热、嗜睡、咳嗽、体重减轻和皮肤发红,最初因细菌性蜂窝织炎治疗,并调查了潜在的恶性肿瘤。他出现了多发性进行性红斑皮损、败血症和结肠炎,需要重症监护。皮肤活检显示真皮和皮下脂肪中有酵母菌,经PCR证实为荚膜组织浆体。弥散性巨细胞病毒伴终器官胃肠道疾病也被诊断。尽管抗病毒和抗真菌治疗,患者病情恶化,骨髓抑制的证据,并诊断为噬血细胞淋巴组织细胞增多症。结论:PDH常见于免疫抑制明显的患者,如人类免疫缺陷病毒(HIV)患者或接受抗tnf治疗的患者;然而,我们提出了一个组织浆体在非hiv患者中再激活的病例。我们认为在严重不适和恶化的患者中考虑地方性真菌和巨细胞病毒重新激活的重要性。
{"title":"Reactivation of latent <i>Histoplasma</i> and disseminated cytomegalovirus in a returning traveller with ulcerative colitis.","authors":"Olivia Lucey,&nbsp;Iain Carroll,&nbsp;Thomas Bjorn,&nbsp;Michael Millar","doi":"10.1099/jmmcr.0.005170","DOIUrl":"https://doi.org/10.1099/jmmcr.0.005170","url":null,"abstract":"<p><strong>Introduction: </strong>We describe a case of progressive disseminated histoplasmosis (PDH) and disseminated cytomegalovirus (CMV) with development of haemophagocytic lymphohistiocytosis in a 62-year-old man of Bangladeshi origin living in the UK.</p><p><strong>Case presentation: </strong>The patient had a background of ulcerative colitis for which he took prednisolone and azathioprine. He presented with fever, lethargy, cough, weight loss and skin redness, and was initially treated for bacterial cellulitis and investigated for underlying malignancy. He developed multiple progressive erythematous skin lesions, sepsis and colitis requiring management on intensive care. A skin biopsy showed yeasts in the dermis and sub-cutaneous fat, which were confirmed as <i>Histoplasma capsulatum</i> by PCR. Disseminated CMV with evidence of end organ gastrointestinal disease was also diagnosed. Despite anti-viral and anti-fungal treatment, the patient deteriorated with evidence of bone marrow suppression and a diagnosis of haemophagocytic lymphohistiocytosis was made.</p><p><strong>Conclusion: </strong>PDH is classically seen in patients with significant immunosuppression, e.g. those with human immunodeficiency virus (HIV) or on anti-TNF therapy; however, we present a case of reactivation of <i>Histoplasma</i> in a non-HIV patient. We consider the importance of contemplating reactivation of endemic mycoses and CMV in critically unwell and deteriorating patients.</p>","PeriodicalId":73559,"journal":{"name":"JMM case reports","volume":"5 12","pages":"e005170"},"PeriodicalIF":0.0,"publicationDate":"2018-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37049324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Bacteraemia due to Microbacterium paraoxydans in a patient with chronic kidney disease, refractory hypertension and sarcoidosis. 慢性肾病、顽固性高血压和结节病合并副氧微杆菌所致菌血症1例。
Pub Date : 2018-10-31 eCollection Date: 2018-11-01 DOI: 10.1099/jmmcr.0.005169
Matthew S Chorost, Nancy C Smith, Jack N Hutter, Ann C Ong, Jason A Stam, Patrick T McGann, Mary K Hinkle, Kurt E Schaecher, Edwin Kamau

Introduction: Microbacterium spp. are yellow-pigmented Gram-positive coryneform rods found in various environmental sources, such as soil and water samples. They rarely cause human infection, mostly infecting immunocompromised patients and catheter insertion sites, making them challenging to identify in clinical settings.

Case presentation: We report a case of a 61-year-old female on long-term prednisone therapy for sarcoidosis with minimal exposure to environmental sources, who presented with an overtly infected Hickman catheter site and presyncope. The patient had a central venous catheter (CVC) that had been in place for the previous 6 years for treatment of refractory hypertension and congestive heart failure. Blood cultures obtained from the CVC on initial presentation were positive for a mixed infection, which was subcultured and grew Staphylococcus aureus, Staphylococcus epidermidis, Acinetobacter radioresistens and Leifsonia aquatica based on the Becton Dickinson Phoenix Automated Microbiology System. The L. aquatica, designated as isolate 4120, was further analysed, since infections associated with this organism are uncommon, and it was the only organism to grow from the patient's catheter tip. Matrix-assisted laser desorption ionization-time of flight MS identified isolate 4120 as Microbacterium paraoxydans. To resolve the conflicting results, additional analyses of isolate 4120 were carried out and compared to several reference strains. Isolate 4120 was found to have intermediate susceptibility to ciprofloxacin and non-susceptibility to vancomycin. Morphology, susceptibility, biochemical characteristics and whole-genome sequencing confirmed the clinical isolate as Microbacterium paraoxydans.

Conclusion: In this case, we identified an organism that is rarely seen in clinical settings and characterized it with a comprehensive laboratory analysis. The patient in our case responded to replacement of the CVC, and treatment with levofloxacin by mouth and intravenous vancomycin.

微细菌是一种黄色革兰氏阳性棒状棒,存在于各种环境来源,如土壤和水样中。它们很少引起人类感染,主要感染免疫功能低下的患者和导管插入部位,这使得它们在临床环境中难以识别。病例介绍:我们报告一例61岁女性,长期接受强的松治疗结节病,暴露于环境源很少,谁提出了一个明显的感染Hickman导管部位和晕厥前期。患者使用中心静脉导管(CVC)治疗顽固性高血压和充血性心力衰竭已有6年。首次就诊时从CVC获得的血培养呈混合感染阳性,继代培养并生长金黄色葡萄球菌、表皮葡萄球菌、耐辐射不动杆菌和水生Leifsonia,基于Becton Dickinson Phoenix自动微生物系统。由于与该菌相关的感染并不常见,而且它是唯一从患者导管尖端生长的菌体,因此将该水生乳杆菌(L. aquatica)命名为分离物4120,并进行了进一步分析。基质辅助激光解吸电离飞行时间质谱鉴定分离物4120为副氧Microbacterium paroxydans。为了解决矛盾的结果,对分离物4120进行了额外的分析,并与几个参考菌株进行了比较。分离物4120对环丙沙星有中等敏感性,对万古霉素不敏感。形态、药敏、生化特征及全基因组测序均证实该临床分离株为副氧化微杆菌。结论:在这种情况下,我们确定了一种在临床环境中很少见到的生物体,并通过全面的实验室分析对其进行了表征。在我们的病例中,患者对替换CVC,口服左氧氟沙星和静脉注射万古霉素治疗有反应。
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引用次数: 11
Case report: A fatal case of cryptococcosis in an immunocompetent patient due to Cryptococcus deuterogattii (AFLP6/VGII). 病例报告:一名免疫功能正常的患者因后肛隐球菌(AFLP6/VGII)而致隐球菌病死亡病例。
Pub Date : 2018-10-23 eCollection Date: 2018-10-01 DOI: 10.1099/jmmcr.0.005168
M Bauer, C Wickenhauser, A Haak, N Pazaitis, U Siebolts, C Mawrin, C Strauss, V Rickerts, D Stoevesandt, O A Cornely, J F Meis, F Hagen

Introduction: Cryptococcosis in immunocompetent adults is a rare disease in Europe, mostly induced by members of the Cryptococcus gattii species complex. The diagnosis can be challenging due to its rarity, unspecific symptoms and long symptomless latency.

Case presentation: A 49-year-old woman with a three weeks history of headache was admitted to the hospital due to discrete ataxia and impaired vision. Cranial magnetic resonance imaging (MRI) showed a contrast-enhancing mass in the cerebellum. Further investigations detected a slight leukocytosis and a single subpleural nodule in the right inferior lung lobe. The cerebral lesion was surgically removed, and a direct frozen section only showed an unspecific inflammation. In the course of her admission she developed non-treatable cerebral edema and died ten days after surgical intervention. Histopathological examination of the surgical specimen and postmortem evaluation of the lung and the cerebrum demonstrated fungal elements. Molecular identification of the fungal elements in formalin-fixed paraffin-embedded tissue lead to the diagnosis of cryptococcosis induced by C. gattii sensu lato. Molecular genetic analysis identified the involved cryptococcal species as genotype AFLP6/VGII, recently described as Cryptococcus deuterogattii, which is known to be endemic to the west-coast of Canada and the USA. Additional heteroanamnestic information revealed that she had spent her holidays on Vancouver Island, Canada, two years before disease onset, indicating that infection during this stay seems to be plausible.

Conclusion: Cryptococcosis due to C. deuterogattii is a rarely encountered fungal disease in Europe, not particularly associated with immunodeficiency, and infection is likely to be contracted in endemic areas. Due to its rarity, long symptomless latency, unspecific symptoms and misleading radiological features the diagnosis can be challenging. Physicians need to be aware of this differential diagnosis in immunocompetent patients, as early adequate therapy can be lifesaving.

在欧洲,免疫功能正常的成人隐球菌病是一种罕见的疾病,主要由加蒂隐球菌物种复合体的成员引起。由于其罕见,症状不特异性和长时间无症状潜伏期,诊断可能具有挑战性。病例介绍:一名49岁女性,因离散性共济失调和视力受损而入院,有三周的头痛病史。颅脑磁共振成像(MRI)显示小脑有一个增强肿块。进一步检查发现右下肺叶有轻微的白细胞增多和单个胸膜下结节。手术切除了大脑病变,直接冰冻切片只显示了非特异性炎症。在入院过程中,她出现了无法治疗的脑水肿,并在手术干预后10天死亡。手术标本的组织病理学检查和死后对肺和大脑的评估显示有真菌成分。对福尔马林固定石蜡包埋组织中真菌成分的分子鉴定有助于诊断加蒂隐球菌感染。分子遗传学分析鉴定所涉及的隐球菌物种为AFLP6/VGII基因型,最近被描述为deuterogattii隐球菌,已知为加拿大西海岸和美国特有。额外的异忆信息显示,她在发病前两年曾在加拿大温哥华岛度假,这表明在此期间感染似乎是合理的。结论:由deuterogtii隐球菌引起的隐球菌病在欧洲是一种罕见的真菌疾病,与免疫缺陷没有特别的联系,感染很可能在流行地区感染。由于其罕见性,长时间无症状潜伏期,不特异性的症状和误导性的放射学特征,诊断可能具有挑战性。医生需要意识到免疫功能正常患者的这种鉴别诊断,因为早期适当的治疗可以挽救生命。
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引用次数: 14
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome. 两个具有新型LRBA突变的男性兄弟姐妹表现出不同的IPEX综合征。
Pub Date : 2018-10-15 eCollection Date: 2018-10-01 DOI: 10.1099/jmmcr.0.005167
Sanem Eren Akarcan, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Deniz Yilmaz Karapinar, Funda Cetin, Yesim Aydinok, Elif Azarsiz, Eleonora Gambineri, Ozgur Cogulu, Ezgi Ulusoy Severcan, Hudaver Alper, Necil Kutukculer

Introduction: LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.

Case presentation: Two male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the LRBA gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results.

Conclusion: LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.

简介:脂多糖反应性米粒样锚蛋白缺乏症(LRBA)是一种免疫失调疾病,其自身免疫影响各系统。病例介绍:两个患有新型LRBA突变的男性兄弟姐妹入院时的主要表现不同:弟弟妹妹患有慢性早发性腹泻,哥哥患有自身免疫性溶血性贫血。在IPEX表型的长期随访中,两人都出现了低γ球蛋白血症、肠病和肺部受累。患者对免疫抑制疗法有部分反应。在LRBA基因中检测到一个纯合子c.2496C>A, p.Cys832Ter (p.C832*)突变,导致过早终止密码子。经过分子诊断,abataccept作为靶向性分子被使用,效果良好。结论:LRBA缺乏是一种新近定义的缺陷,在不同的患者中有不同的表现;因此,目前还没有确定的单一治疗方案。
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引用次数: 16
Schistosomiasis in a Scottish school group after freshwater swimming in Uganda: the need to raise awareness. 在乌干达淡水游泳后苏格兰学校小组的血吸虫病:需要提高认识。
Pub Date : 2018-09-25 eCollection Date: 2018-10-01 DOI: 10.1099/jmmcr.0.005166
Sandra L Currie, Lucy Denvir, Busi Mooka, Kali Perrow, Claire L Alexander

Introduction: Schistosomiasis, a travel-related trematode infection, can cause a range of symptoms with potentially life-threatening complications. In this report, we describe an outbreak of schistosomiasis in a Scottish school group that had travelled to Uganda. We discuss the requirement for robust and accurate pre-travel advice, and the importance of raising awareness in travellers, particularly due to the asymptomatic nature of the disease. In addition, we highlight the need to submit a serum sample for laboratory testing on return from endemic regions where freshwater exposure has occurred.

Case presentation: A Scottish school group consisting of 19 individuals visited Uganda during July 2016 with one positive symptomatic case identified on return to the UK. As three of the individuals were not Scottish residents, their data were excluded from this report. Freshwater exposure was noted from taking part in activities which included swimming in the Nile. The Scottish Parasite Diagnostic and Reference Laboratory performed serology testing using sera from 16 Scottish residents to detect IgG towards Schistosoma egg antigens. Thirteen were positive despite only one case being symptomatic.

Conclusion: The high positivity rate raised several issues. These included the lack of a robust risk assessment by the travel company organizing the trip, the lack of awareness of schistosomiasis by some individuals, the lack of appropriate and accurate pre-travel advice, and the asymptomatic nature of the infection. This report provides supportive evidence to strengthen the need for improvements to prevent largely asymptomatic cases being missed in future.

简介:血吸虫病是一种与旅行有关的吸虫感染,可引起一系列症状和可能危及生命的并发症。在本报告中,我们描述了在前往乌干达的一个苏格兰学校小组中爆发的血吸虫病。我们讨论了对强有力和准确的旅行前咨询的要求,以及提高旅行者认识的重要性,特别是由于该疾病的无症状性质。此外,我们强调有必要在从发生淡水接触的流行地区返回时提交血清样本供实验室检测。病例介绍:一个由19人组成的苏格兰学校小组于2016年7月访问了乌干达,在返回英国时发现了一例阳性症状病例。由于其中三人不是苏格兰居民,他们的数据被排除在本报告之外。在参加包括在尼罗河游泳在内的活动时,接触到淡水。苏格兰寄生虫诊断和参考实验室使用16名苏格兰居民的血清进行血清学检测,以检测血吸虫卵抗原的IgG。13例呈阳性,但只有1例出现症状。结论:高检出率引起了一些问题。其中包括组织这次旅行的旅游公司缺乏强有力的风险评估,一些人缺乏对血吸虫病的认识,旅行前缺乏适当和准确的建议,以及感染的无症状性质。本报告提供了支持性证据,加强了改进的必要性,以防止今后遗漏大部分无症状病例。
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引用次数: 0
Fatal strongyloidiasis after corticosteroid therapy for presumed chronic obstructive pulmonary disease. 皮质类固醇治疗假定的慢性阻塞性肺疾病后的致命强直性脊柱炎。
Pub Date : 2018-09-11 DOI: 10.1099/jmmcr.0.005165
Priyatam Khadka, Pratap Khadka, Januka Thapaliya, Dhana Bikram Karkee

Introduction: Strongyloidiasis is a neglected tropical disease with global prevalence. Under some cases of immune suppression (especially with corticosteroid administration), the nematode involved disseminates, leading to an amplified, possibly lethal hyper-infection syndrome.

Case presentation: A 56-year-old Nepalese man presenting with chief complaints of nausea, vomiting, joint pain and abdominal cramps was admitted to Sumeru Hospital. His past history revealed: chronic obstructive pulmonary disease (COPD), systemic hypertension and previously treated pulmonary tuberculosis. The patient had been treated with oral prednisolone (60 mg gl-1) for 8 days due to a presumed exacerbation of his COPD. Sequentially, he developed haemoptysis, chest tightness, frequent wheezing and worsening cough. Bronchoscopy showed severe diffuse alveolar haemorrhage; microbiological examination of broncho-alveolar lavage (BAL) was recommended. Examination of an acid fast bacilli stain preparation of BAL revealed filariform larvae of Strongyloides. Stool specimen examination revealed larvae of Strongyloides. The physical condition of the patient began to deteriorate; a few days after admission, vancomycin-sensitive Enterococcus faecium was isolated from a blood sample. He was treated with ivermectin and albendazole for strongyloides and linezolid plus vancomycin for E. faecium. However, the patient failed to recover from the illness and died.

Conclusion: The findings of our study suggest that corticosteroid administration in strongyloidiasis can lead to the development of fatal strongyloides hyper-infection syndrome. Hence our experience suggests the need for early diagnosis of strongyloidiasis to avoid such an outcome. A deterioration of the patient's condition after the initiation of corticosteroid therapy in endemic areas should raise the possibility of strongyloidiasis.

简介:圆线虫病是一种被忽视的热带疾病,在全球范围内流行。在某些免疫抑制的情况下(尤其是使用皮质类固醇),所涉及的线虫会传播,导致放大的、可能致命的超感染综合征。病例介绍:一名56岁的尼泊尔男子,主要症状为恶心、呕吐、关节疼痛和腹部痉挛,被送往Sumeru医院。他的既往病史显示:慢性阻塞性肺病(COPD)、系统性高血压和既往治疗过的肺结核。患者接受了口服泼尼松(60 mg gl-1)用于8 由于他的慢性阻塞性肺病加重。随后,他出现了咯血、胸闷、频繁喘息和咳嗽加重。支气管镜检查显示严重弥漫性肺泡出血;建议对支气管肺泡灌洗液(BAL)进行微生物学检查。对BAL的抗酸杆菌染色制剂进行检查,结果显示为类圆线虫的丝状幼虫。粪便标本检查显示有类Strongyloides的幼虫。病人的身体状况开始恶化;入院几天后,从血样中分离出对万古霉素敏感的粪肠球菌。他接受了伊维菌素和阿苯达唑治疗,利奈唑胺加万古霉素治疗粪便大肠杆菌。然而,患者未能从疾病中恢复过来,最终死亡。结论:我们的研究结果表明,在强直性脊柱炎中使用皮质类固醇会导致致命的强直性脊柱炎过度感染综合征的发展。因此,我们的经验表明,有必要对强直性脊柱炎进行早期诊断,以避免出现这种结果。在流行地区开始皮质类固醇治疗后,患者的病情恶化应该会增加患强直性脊柱炎的可能性。
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引用次数: 13
期刊
JMM case reports
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