Rapid and accurate diagnosis of brain abscess caused by Nocardia asiatica with a combination of Ziehl‐Neelsen staining and metagenomics next‐generation sequencing

2020 ◽  
Vol 28 (1) ◽  
pp. 355-357
Author(s):  
T. Huang ◽  
Y. Chen ◽  
J. Zhang ◽  
R. He ◽  
D. Qu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Brain Abscess ◽  
Accurate Diagnosis ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Highly accurate diagnosis of cancer in thyroid nodules with follicular neoplasm/suspicious for a follicular neoplasm cytology by ThyroSeq v2 next-generation sequencing assay

Cancer ◽  
2014 ◽  
Vol 120 (23) ◽  
pp. 3627-3634 ◽  
Author(s):  
Yuri E. Nikiforov ◽  
Sally E. Carty ◽  
Simon I. Chiosea ◽  
Christopher Coyne ◽  
Umamaheswar Duvvuri ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Thyroid Nodules ◽  
Accurate Diagnosis ◽  
Follicular Neoplasm ◽  
Next Generation ◽  
Diagnosis Of Cancer ◽  
Generation Sequencing

scholarly journals Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias

2020 ◽  
Author(s):  
Rishab Bharadwaj ◽  
Thulasi Raman ◽  
Ravikumar Thangadorai ◽  
Deenadayalan Munirathnam
Keyword(s):  
Next Generation Sequencing ◽  
Gene Sequencing ◽  
Accurate Diagnosis ◽  
Next Generation ◽  
Diagnostic Challenge ◽  
Targeted Next Generation Sequencing ◽  
Appropriate Treatment ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Hereditary hemolytic anemias present a unique diagnostic challenge due to their wide phenotypic and genotypic spectrum. Accurate diagnosis is essential to ensure appropriate treatment. We report two cases, which presented as hemolytic anemias, but initial workup was inconclusive and they were finally diagnosed with the help of Next Generation Sequencing (Dehydrated Hereditary Stomatocytosis and Kӧln Hemoglobinopathy). The introduction of gene sequencing to aid diagnosis of these disorders is a revolutionary step forward and should be incorporated earlier in the workup of such patients.

scholarly journals Case Report: Metagenomics Next-Generation Sequencing Can Help Define the Best Therapeutic Strategy for Brain Abscesses Caused by Oral Pathogens

2021 ◽  
Vol 8 ◽  
Author(s):  
Zhonghui Ma ◽  
Su Yan ◽  
Haoxin Dong ◽  
Huifen Wang ◽  
Yonggang Luo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Brain Abscess ◽  
Genomic Analysis ◽  
Critical Factor ◽  
Oral Microbiome ◽  
Next Generation ◽  
Gram Staining ◽  
Brain Abscesses ◽  
Generation Sequencing

Brain abscesses are associated with an increased long-term risk of new seizures and increased mortality within several years after infection. Common microorganisms that cause brain abscesses include bacteria, fungi, and mycoplasma. We report a 75-year-old man with a brain abscess caused by Prevotella denticola, an oral pathogen. Based on the clinical condition, we suspected that the patient had a blood-borne brain abscess, and he received antibiotics and systemic supportive treatment. The patient developed shock for the second time after negative Gram-staining results. Metagenomics next-generation sequencing showed one strain from the oral microbiome, confirming our hypothesis, and targeted antibiotic treatment was administered quickly. Thus, we report a case in which genomic analysis was the critical factor in determining the best antimicrobial therapy for administration.

scholarly journals Next-Generation Sequencing Applications for Inherited Retinal Diseases

2021 ◽  
Vol 22 (11) ◽  
pp. 5684
Author(s):  
Adrian Dockery ◽  
Laura Whelan ◽  
Pete Humphries ◽  
G. Jane Farrar
Keyword(s):  
Next Generation Sequencing ◽  
Prenatal Screening ◽  
Copy Number Variants ◽  
Genetic Diagnosis ◽  
Accurate Diagnosis ◽  
Retinal Diseases ◽  
Next Generation ◽  
Structural Variants ◽  
Child Bearing ◽  
Generation Sequencing

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.

scholarly journals Clinical and genetic study of twelve Chinese Han families with non-syndromic deafness

2019 ◽  
Author(s):  
Di Wu ◽  
Weiyuan Huang ◽  
Shuo Li ◽  
Jie Zhang ◽  
Xiaohua Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Accurate Diagnosis ◽  
Next Generation ◽  
Phenotype Correlation ◽  
Chinese Han ◽  
Targeted Next Generation Sequencing ◽  
Whole Exome ◽  
Syndromic Hearing Loss ◽  
Generation Sequencing

Abstract BACKGROUND: Non-syndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of twelve Chinese Han deaf families in which mutations in common deafness genes GJB2 , SLC26A4 and MT-RNR1 were excluded. RESULTS: Targeted next-generation sequencing of 147 known deafness genes was performed in probands of ten families, while whole-exome sequencing was applied in those of the rest two. Pathogenic mutations in a total of 11 rare deafness genes, OTOF , CDH23 , PCDH15 , PDZD7 , ADGRV1 , KARS , OTOG , GRXCR2 , MYO6 , GRHL2 , and POU3F4 , were identified in all 12 probands, with 17 mutations being novel. Intrafamilial co-segregation of the mutations and the deafness phenotype were confirmed by Sanger sequencing. CONCLUSIONS: Our results expanded the mutation spectrum and genotype-phenotype correlation of non-syndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next-generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for non-syndromic hearing loss.

Rapid clinical mutational testing of KRAS, BRAF and EGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

2019 ◽  
Vol 73 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Matthias Van Haele ◽  
Sara Vander Borght ◽  
An Ceulemans ◽  
Michiel Wieërs ◽  
Sofie Metsu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
High Throughput ◽  
Gold Standard ◽  
Small Cell ◽  
Accurate Diagnosis ◽  
Next Generation ◽  
Small Cell Lung ◽  
Mutational Status ◽  
Hands On ◽  
Generation Sequencing

AimsPrecision medicine therapy is remodelling the diagnostic landscape of cancer. The success of these new therapies is often based on the presence or absence of a specific mutation in a tumour. The Idylla platform is designed to determine the mutational status of a tumour as quickly and accurately as possible, as a rapid, accurate diagnosis is of the utmost importance for the treatment of patients. This is the first complete prospective study to investigate the robustness of the Idylla platform for EGFR, KRAS and BRAF mutations in non-small cell lung cancer, metastatic colorectal cancer and metastatic melanoma, respectively.MethodsWe compared prospectively the Idylla platform with the results we obtained from parallel high-throughput next-generation sequencing, which is the current gold standard for mutational testing. Furthermore, we evaluated the benefits and disadvantages of the Idylla platform in clinical practice. Additionally, we reviewed all the published Idylla performance articles.ResultsThere was an overall agreement of 100%, 94% and 94% between the next-generation panel and the Idylla BRAF, KRAS and EGFR mutation test. Two interesting discordant findings among 48 cases were observed and will be discussed together with the advantages and shortcoming of both techniques.ConclusionOur observations demonstrate that the Idylla cartridge for the EGFR, KRAS and BRAF mutations is highly accurate, rapid and has a limited hands-on time compared with next-generation sequencing.

scholarly journals An unusual case report of brain abscess caused by prevotella loescheii identified using the metagenomic next-generation sequencing

IDCases ◽  
2020 ◽  
Vol 20 ◽  
pp. e00758
Author(s):  
Shuixiang Deng ◽  
Hongda Zhu ◽  
Yuming Li ◽  
Feng Zhao ◽  
Umut Ocak ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Brain Abscess ◽  
Unusual Case ◽  
Next Generation ◽  
Generation Sequencing ◽  
Unusual Case Report

scholarly journals Idiopathic thrombocytopenic purpura with brain abscess caused by Nocardia farcinica diagnosed using metagenomics next-generation sequencing of the cerebrospinal fluid: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Chaojun Zhou ◽  
Kai Wang ◽  
Hanrong Li ◽  
Xiaobo Zhang
Keyword(s):  
Cerebrospinal Fluid ◽  
Next Generation Sequencing ◽  
Brain Abscess ◽  
Idiopathic Thrombocytopenic Purpura ◽  
Diagnostic Methods ◽  
Next Generation ◽  
Culture Methods ◽  
Thrombocytopenic Purpura ◽  
Nocardia Farcinica ◽  
Generation Sequencing

Abstract Background Brain abscesses caused by Nocardia farcinica are rare, and mostly occur in immunocompromised individuals. Rapid and accurate diagnosis of nocardiosis is challenging. Due to the inadequate performance of conventional diagnostic methods for Nocardia infection, metagenomics next-generation sequencing (mNGS) of cerebrospinal fluid (CSF) has the potential to improve the diagnosis intracranial nocardiosis. Case presentation We report a case of 50-year-old man with brain abscess caused by Nocardia farcinica. The patient had a idiopathic thrombocytopenic purpura complication that required long-term methylprednisolone administration. His chest image showed multiple lesions, which had been misdiagnosed as lung cancer, and his head image showed multiple intracranial metastases. No pathogen was detected in routine examinations including blood culture, sputum culture and traditional culture methods of cerebrospinal fluid. In order to accurately identify the pathogen, mNGS was used to detect Nocardia in CSF. Although the patient’s condition improved after using sensitive antibiotics, he transferred to the local hospital for treatment because of many complicated diseases and family financial limitations. Conclusion This case highlights the value of mNGS in the diagnosis of Nocardia brain abscess, and emphasizes the inadequate sensitivity of conventional diagnostic methods for Nocardia infection. Using mNGS can facilitate early and accurate detection of Norcadia-associated of meningitis in immunocompromised patients, thereby reducing unnecessary use of antibiotics and reducing mortality of the disease.

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