scholarly journals A case of paraplegia due to asymptomatic varicella-zoster virus infection in AIDS patient unexpectedly diagnosed by CSF metagenomic next-generation sequencing

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhiman Xie ◽  
Jingzhen Lai ◽  
Chuanyi Ning ◽  
Guangjing Ruan ◽  
Hao Liang
Keyword(s):  
Spinal Cord ◽  
Next Generation Sequencing ◽  
Varicella Zoster Virus ◽  
Disease Diagnosis ◽  
Next Generation ◽  
Thoracic Spinal Cord ◽  
Varicella Zoster ◽  
Thoracic Spinal ◽  
Generation Sequencing ◽  
Hiv Aids

Abstract Background Varicella-zoster virus (VZV) infection may induce central nervous system complications in HIV/AIDS patients. However, it is rare to have paraplegia caused by VZV infection but no herpes zoster clinically. Asymptomatic VZV infection in HIV/AIDS patient increased the difficulty of diagnosis. Case presentation We reported a 41-year-old male AIDS patient with rare asymptomatic VZV infection-induced paraplegia after his anti-retroviral therapy initiation. MRI of the spinal cord showed the morphology of the thoracic spinal cord was irregular and locally inflated. The patient was confirmed as VZV induced thoracic myelomyelitis by using the cerebrospinal fluid for metagenomic next-generation sequencing (mNGS). Conclusions mNGS may contribute to disease diagnosis for asymptomatic VZV infection-induced myelitis.

scholarly journals Severe pulmonary co-infection with varicella-zoster virus, Pneumocystis jirovecii and Cytomegalovirus: a case report

2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110707
Author(s):  
Zhijiang Qi ◽  
Yanting Sun ◽  
Jun Li ◽  
Yingjie Wang ◽  
Haining Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Varicella Zoster Virus ◽  
Pneumocystis Jirovecii ◽  
Imaging Features ◽  
Severe Respiratory Failure ◽  
Next Generation ◽  
Varicella Zoster ◽  
Immunosuppressed Patients ◽  
Generation Sequencing

Pneumocystis jirovecii, Cytomegalovirus and varicella-zoster virus are all opportunistically infective pathogens, but pulmonary co-infection with these pathogens is rare. Herein, this case report describes a patient with autoimmune haemolytic anaemia treated with methylprednisolone and cyclosporine that presented with rapidly progressive severe respiratory failure. Analysis of microbial nucleic acid sequences in both blood and sputum using next-generation sequencing revealed pulmonary co-infection with Pneumocystis jirovecii, varicella-zoster virus, and possibly Cytomegalovirus. After timely targeted and supportive treatments, the patient recovered. This case report highlights the imaging features of co-infection with these pathogens, the importance of next-generation sequencing for early diagnosis in immunosuppressed patients, and the effects of corticosteroid therapy.

Balamuthia mandrillaris-Related Primary Amoebic Encephalitis in China Diagnosed by Next Generation Sequencing and a Review of the Literature

2019 ◽  
Author(s):  
Yinan Yang ◽  
Xiaobin Hu ◽  
Li Min ◽  
Xiangyu Dong ◽  
Yuanlin Guan
Keyword(s):  
Next Generation Sequencing ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Infectious Agent ◽  
Disease Diagnosis ◽  
Rapid Identification ◽  
Next Generation ◽  
Balamuthia Mandrillaris ◽  
Granulomatous Amoebic Encephalitis ◽  
Generation Sequencing

Abstract Background Encephalitis is caused by infection, immune mediated diseases, or primary inflammatory diseases. Of all the causative infectious pathogens, 90% are viruses or bacteria. Granulomatous amoebic encephalitis (GAE), caused by Balamuthia mandrillaris, is a rare but life-threatening disease. Diagnosis and therapy are frequently delayed due to the lack of specific clinical manifestations. Method A healthy 2 year old Chinese male patient initially presented with a nearly 2 month history of irregular fever. We present this case of granulomatous amoebic encephalitis caused by B. mandrillaris. Next generation sequencing of the patient’s cerebrospinal fluid (CSF) was performed to identify an infectious agent. Result The results of next generation sequencing of the CSF showed that most of the mapped reads belonged to Balamuthia mandrillaris. Conclusion Next generation sequencing (NGS) is an unbiased and rapid diagnostic tool. The NGS method can be used for the rapid identification of causative pathogens. The NGS method should be widely applied in clinical practice and help clinicians provide direction for the diagnosis of diseases, especially for rare and difficult cases.

scholarly journals Next-generation sequencing in neuropathological diagnosis of infections of the nervous system

2016 ◽  
Author(s):  
Steven L. Salzberg ◽  
Florian Breitwieser ◽  
Anupama Kumar ◽  
Haiping Hao ◽  
Peter Burger ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Nervous System ◽  
Next Generation Sequencing ◽  
Large Scale ◽  
Infectious Agent ◽  
Next Generation ◽  
Dna And Rna ◽  
Wide Range ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Objective: To determine the feasibility of next-generation sequencing (NGS) microbiome approaches in the diagnosis of infectious disorders in brain or spinal cord biopsies in patients with suspected central nervous system (CNS) infections. Methods: In a prospective-pilot study, we applied NGS in combination with a new computational analysis pipeline to detect the presence of pathogenic microbes in brain or spinal cord biopsies from ten patients with neurological problems indicating possible infection but for whom conventional clinical and microbiology studies yielded negative or inconclusive results. Results: Direct DNA and RNA sequencing of brain tissue biopsies generated 8.3 million to 29.1 million sequence reads per sample, which successfully identified with high confidence the infectious agent in three patients, identified possible pathogens in two more, and helped to understand neuropathological processes in three others, demonstrating the power of large-scale unbiased sequencing as a novel diagnostic tool. Validation techniques confirmed the pathogens identified by NGS in each of the three positive cases. Clinical outcomes were consistent with the findings yielded by NGS on the presence or absence of an infectious pathogenic process in eight of ten cases, and were non-contributory in the remaining two. Conclusions: NGS-guided metagenomic studies of brain, spinal cord or meningeal biopsies offer the possibility for dramatic improvements in our ability to detect (or rule out) a wide range of CNS pathogens, with potential benefits in speed, sensitivity, and cost. NGS-based microbiome approaches present a major new opportunity to investigate the potential role of infectious pathogens in the pathogenesis of neuroinflammatory disorders.

scholarly journals Utility of Whole-Genome Next-Generation Sequencing of Plasma in Identifying Opportunistic Infections in HIV/AIDS

2019 ◽  
Vol 13 (1) ◽  
pp. 7-11 ◽  
Author(s):  
Yang Zhou ◽  
Vagish Hemmige ◽  
Sudeb C. Dalai ◽  
David K. Hong ◽  
Kenneth Muldrew ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Opportunistic Infections ◽  
Case Series ◽  
Whole Genome ◽  
Next Generation ◽  
Invasive Procedures ◽  
First Case ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Hiv Aids

Background:AIDS-associated Opportunistic Infections (OIs) have significant morbidity and mortality and can be diagnostically challenging, requiring invasive procedures as well as a combination of culture and targeted molecular approaches.Objective:We aimed to demonstrate the clinical utility of Next-generation Sequencing (NGS) in pathogen identification; NGS is a maturing technology enabling the detection of miniscule amounts of cell-free microbial DNA from the bloodstream.Methods:We utilized a novel Next-generation Sequencing (NGS) test on plasma samples to diagnose a series of HIV-associated OIs that were diagnostically confirmed through conventional microbial testing.Results:In all cases, NGS test results were available sooner than conventional testing. This is the first case series demonstrating the utility of whole-genome NGS testing to identify OIs from plasma in HIV/AIDS patients.Conclusion:NGS approaches present a clinically-actionable, comprehensive means of diagnosing OIs and other systemic infections while avoiding the labor, expense, and delays of multiple tests and invasive procedures.

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

2014 ◽  
Vol 67 (12) ◽  
pp. 1099-1103 ◽  
Author(s):  
Irene Madrigal ◽  
Maria Isabel Alvarez-Mora ◽  
Olof Karlberg ◽  
Laia Rodríguez-Revenga ◽  
Dei M Elurbe ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Genetic Diseases ◽  
Genetic Defect ◽  
Disease Diagnosis ◽  
Underlying Disease ◽  
Next Generation ◽  
Genetic Syndromes ◽  
Biomedical Diagnosis ◽  
Generation Sequencing

AimsThe causes of intellectual disability, which affects 1%–3% of the general population, are highly heterogeneous and the genetic defect remains unknown in around 40% of patients. The application of next-generation sequencing is changing the nature of biomedical diagnosis. This technology has quickly become the method of choice for searching for pathogenic mutations in rare uncharacterised genetic diseases.MethodsWhole-exome sequencing was applied to a series of families affected with intellectual disability in order to identify variants underlying disease phenotypes.ResultsWe present data of three families in which we identified the disease-causing mutations and which benefited from receiving a clinical diagnosis: Cornelia de Lange, Cohen syndrome and Dent-2 disease. The genetic heterogeneity and the variability in clinical presentation of these disorders could explain why these patients are difficult to diagnose.ConclusionsThe accessibility to next-generation sequencing allows clinicians to save much time and cost in identifying the aetiology of rare diseases. The presented cases are excellent examples that demonstrate the efficacy of next-generation sequencing in rare disease diagnosis.

scholarly journals Metagenomic Next-generation Sequencing of Cerebrospinal Fluid for the Diagnosis of Central Nervous System Infections: A Multicentre Prospective Study

2019 ◽  
Author(s):  
Siyuan Fan ◽  
Xiaojuan Wang ◽  
Yafang Hu ◽  
Jingping Shi ◽  
Yueli Zou ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Next Generation Sequencing ◽  
Bacterial Infections ◽  
Bacterial Species ◽  
Next Generation ◽  
Central Nervous System Infections ◽  
Varicella Zoster ◽  
Generation Sequencing

ABSTRACTBackgroundInfectious encephalitis and meningitis are often treated empirically without identification of the causative pathogen. Metagenomic next-generation sequencing (mNGS) is a high throughput technology that enables the detection of pathogens independent of prior clinical or laboratory information.MethodsThe present study was a multicentre prospective evaluation of mNGS of cerebrospinal fluid (CSF) for the diagnosis of suspected central nervous system infections.ResultsA total of 276 patients were enrolled in this study between Jan 1, 2017 and Jan 1, 2018. Identification of an etiologic pathogen in CSF by mNGS was achieved in 101 patients (36.6%). mNGS detected 11 bacterial species, 7 viral species, 2 fungal species, and 2 parasitic species. The five leading positive detections were varicella-zoster virus (17), Mycobacterium tuberculosis (14), herpes simplex virus 1 (12), Epstein-Barr virus (12), and Cryptococcus neoformans (7). False positives occurred in 12 (4.3%) patients with bacterial infections known to be widespread in hospital environments. False negatives occurred in 16 (5.8%) patients and included bacterial, viral and fungal aetiologies.ConclusionsmNGS of CSF is a powerful diagnostic method to identify the pathogen for many central nervous system infections.

scholarly journals Diagnosis of Capnocytophaga canimorsus Sepsis by Whole-Genome Next-Generation Sequencing

2016 ◽  
Vol 3 (3) ◽  
Author(s):  
Maria K. Abril ◽  
Adam S. Barnett ◽  
Kara Wegermann ◽  
Eric Fountain ◽  
Andrew Strand ◽  
...  
Keyword(s):  
Infectious Disease ◽  
Septic Shock ◽  
Next Generation Sequencing ◽  
Disease Diagnosis ◽  
Great Promise ◽  
Whole Genome ◽  
Next Generation ◽  
Capnocytophaga Canimorsus ◽  
Generation Sequencing

Abstract We report the case of a 60-year-old man with septic shock due to Capnocytophaga canimorsus that was diagnosed in 24 hours by a novel whole-genome next-generation sequencing assay. This technology shows great promise in identifying fastidious pathogens, and, if validated, it has profound implications for infectious disease diagnosis.

scholarly journals Application of Next Generation Sequencing Genetic Studies of Urea Cycle Disorders

2021 ◽  
Vol 37 (2) ◽  
Author(s):  
Nguyen Thi Thu Huong ◽  
Nguyen Thi Kim Lien ◽  
Nguyen Huy Hoang
Keyword(s):  
Next Generation Sequencing ◽  
Urea Cycle ◽  
Rapid Development ◽  
Disease Diagnosis ◽  
Transport Systems ◽  
Future Research ◽  
Next Generation ◽  
Carbamoyl Phosphate ◽  
Genetic Studies ◽  
Generation Sequencing

Urea cycle disorder is a group of rare, inherited metabolic disorders in the pathway transforming ammonia to urea. The mutations in genes coding for 6 enzymes that are participated including carbamoyl phosphate synthase I (CPSI), ornithine transcarbamylase (OTC), argininosuccinate synthase (ASS1), argininosuccinate lyase (ASL), arginase (ARG1), and N-acetyl glutamate synthase (NAGS), and 2 transport systems ((ornithine translocase (ONT1), citrin)) in the urea cycle are responsible for ammonia accumulation in the blood. Hyperammonemia is the cause of severe neurological symptoms and even death. In almost all cases, clinical examinations and biochemical experiments are necessary, but insufficient information for an accurate diagnosis. Mutation analysis is an effective method to confirm the diagnosis and could be the basis for genetic counseling. The rapid development and widely using of next generation sequencing (NGS) have brought incredible advances in molecular diagnosis of genetic diseases in general. In this article, we systematize the UCD genetic studies applying NGS method, thereby providing a basis for not only disease diagnosis but also future research

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