Intraspinal Sparganosis Diagnosed by Metagenomics Next Generation Sequencing：An Uncommon Infection

2021 ◽  
Author(s):  
Rongming Wang ◽  
Bobin Hu ◽  
Jianning Jiang ◽  
Minghua Su
Keyword(s):  
Surgical Treatment ◽  
High Risk ◽  
Lower Limb ◽  
Poor Prognosis ◽  
High Dose ◽  
Next Generation ◽  
Praziquantel Treatment ◽  
Long Course ◽  
Generation Sequencing ◽  
Complex Lesions

Abstract In this paper, we report a case of lumbago with lower limb fatigue. After a series of biochemical, immunological, imaging, and pathological examinations, the patient was diagnosed with intraspinal sparganosis based on metagenomics next generation sequencing. Due to the length of infection, the presence of multiple complex lesions, and the high risk of surgical treatment with poor prognosis, we did not advocate surgical treatment, but chose to administer a high dose and long course of praziquantel treatment for this case.

scholarly journals Characterization and Diversity of 243 Complete Human Papillomavirus Genomes in Cervical Swabs Using Next Generation Sequencing

Viruses ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 1437
Author(s):  
Ardashel Latsuzbaia ◽  
Anke Wienecke-Baldacchino ◽  
Jessica Tapp ◽  
Marc Arbyn ◽  
Irma Karabegović ◽  
...  
Keyword(s):  
Human Papillomavirus ◽  
Next Generation Sequencing ◽  
High Risk ◽  
Pairwise Distance ◽  
Next Generation ◽  
Hpv Genotypes ◽  
Complete Genomes ◽  
Hpv Types ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

In recent years, next generation sequencing (NGS) technology has been widely used for the discovery of novel human papillomavirus (HPV) genotypes, variant characterization and genotyping. Here, we compared the analytical performance of NGS with a commercial PCR-based assay (Anyplex II HPV28) in cervical samples of 744 women. Overall, HPV positivity was 50.2% by the Anyplex and 45.5% by the NGS. With the NGS, we detected 25 genotypes covered by Anyplex and 41 additional genotypes. Agreement between the two methods for HPV positivity was 80.8% (kappa = 0.616) and 84.8% (kappa = 0.652) for 28 HPV genotypes and 14 high-risk genotypes, respectively. We recovered and characterized 243 complete HPV genomes from 153 samples spanning 40 different genotypes. According to phylogenetic analysis and pairwise distance, we identified novel lineages and sublineages of four high-risk and 16 low-risk genotypes. In total, 17 novel lineages and 14 novel sublineages were proposed, including novel lineages of HPV45, HPV52, HPV66 and a novel sublineage of HPV59. Our study provides important genomic insights on HPV types and lineages, where few complete genomes were publicly available.

scholarly journals A14 Estimating time since HIV infection using next-generation sequencing data: A unique tool to help understand HIV prevention among high-risk young women in Ukraine

2019 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Francois Cholette ◽  
Christina Daniuk ◽  
Emma Lee ◽  
Rupert Capina ◽  
Eve Cheuk ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
High Risk ◽  
Hiv Prevention ◽  
Hiv Infection ◽  
Sex Work ◽  
Young Women ◽  
Casual Sex ◽  
Transactional Sex ◽  
Next Generation ◽  
Generation Sequencing

Abstract The transitions study examines HIV risk among adolescent girls and young women through their sexual life course from first sex, to past and current engagement in casual sex, transactional sex, and, for some, formal sex work (FSW). Understanding the timing of HIV infection and the circumstances around early infection in young females is critical to HIV prevention interventions. We inferred time since HIV infection using next-generation sequencing (NGS) of the HIV pol gene isolated from cross-sectional samples among high-risk young women in Dnipro, Ukraine. Dried blood spots were collected on Whatman 903 cards from young women aged 14–24 engaged in casual sex (n = 894), transactional sex (n = 464), and FSW (n = 452). The HIV pol gene was sequenced using an in-house NGS HIV drug resistance mutation genotyping assay. Time since HIV infection was inferred using an online tool as described by Puller et al. (2017) freely available at https://hiv.biozentrum.unibas.ch/ETI/. The mean estimated time since HIV infection (ETI) for participants engaged in casual sex, transactional sex, and FSW is 1.98, 1.84, and 3.01 years, respectively. ETI was used to determine the duration of HIV infection for each participant and compared to the number of sexually active years prior to FSW. Among FSW, 61 per cent of participants were infected with HIV prior to entry into sex work. In general, ETI from NGS data suggests that FSWs were infected with HIV before entry into FSW. Expansion of targeted prevention programs beyond FSW could play an important role in mitigating HIV transmission at the population level.

Next-Generation Sequencing Informing Therapeutic Decisions and Personalized Approaches

2016 ◽  
pp. e442-e448 ◽  
Author(s):  
Raphael Szalat ◽  
Nikhil C. Munshi
Keyword(s):  
Next Generation Sequencing ◽  
High Risk ◽  
Proteasome Inhibitors ◽  
Next Generation ◽  
Current State ◽  
Therapeutic Decisions ◽  
High Risk Disease ◽  
Risk Patients ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Multiple myeloma is a heterogeneous disease featured by different molecular subtypes. In the last decade, new therapeutics including second- and third-generation proteasome inhibitors and immunomodulatory agents, monoclonal antibodies, and other novel targeted agents have completely transformed the outcome of the disease. The task ahead is to develop strategies to identify effective combinations and sequences of agents that can exploit the genetic make-up of myeloma cells to improve efficacy. Moreover, a subgroup of high-risk patients who experience early disease relapse and shorter survival also requires early identification and specific intervention. Next-generation sequencing (NGS) technologies now allow us to accomplish some of these goals. As described here, besides improving our understanding of the disease, it is beginning to influence our clinical decisions and therapeutic choices. In this article, we describe the current state-of-the-art role of NGS in myeloma from identifying high-risk disease, to drug selection, and, ultimately, to guide personalized therapy.

scholarly journals Aseptic meningitis caused by torque teno virus in an infant: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Yoji Ikuta ◽  
Kunihiro Oba ◽  
Emina Nai ◽  
Tatsuo Katori ◽  
Masanori Hashino ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Next Generation Sequencing ◽  
Virus Infection ◽  
Aseptic Meningitis ◽  
Immunoglobulin M ◽  
Torque Teno Virus ◽  
High Dose ◽  
Next Generation ◽  
Developmental Problems ◽  
Generation Sequencing

Abstract Background Torque teno virus-induced aseptic meningitis has not been documented, although torque teno virus infections still remain under consideration for etiological agents. This study identified a torque teno virus sequence using next generation sequencing and immunoglobulin M response to the torque teno virus antigen, therefore, that would be a comprehensive diagnosis for torque teno virus infection. Case presentation A 2-month-old Japanese boy was brought to our hospital because he was irritable, drowsy, and lethargic. He was admitted based on his test results which indicated the possibility of septic meningitis. He was started on treatment with high-dose antibiotics and steroids. On the third day of hospitalization, he became afebrile with improvement in his general status and was discharged on the sixth day. He had no developmental problems for up to 1 year after discharge. Metagenomic ribonucleic acid-Seq pathogen detection using next generation sequencing of a sample of his cerebrospinal fluid, which was collected at admission, revealed three short reads homologous to those in torque teno virus out of a total of 1,708,516 reads. This finding indicated that our patient was positive compared to the torque teno virus-negative cerebrospinal fluid samples (controls) from 13 other patients. The torque teno virus has been shown to have a whole genome sequence of 2810 nt by polymerase chain reaction. We prepared a recombinant GP2 antigen from torque teno virus and used it to study our patient’s anti-torque teno virus immune response. An anti-GP2 serum immunoglobulin M response was detected, providing further supportive evidence of torque teno virus infection. Conclusions This case speculates that torque teno virus-induced aseptic meningitis has a good course. New technologies like next generation sequencing can help in the identification of such cases, and an accumulation of future cases is expected.

scholarly journals Somatic Mutations Predict Poor Prognosis in Myelodysplastic Syndrome Patients with Normal Karyotypes

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 44-45
Author(s):  
Xiangzong Zeng ◽  
Min Dai ◽  
Yu Zhang ◽  
Lingling Zhou ◽  
Ya Zhou ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Myelodysplastic Syndrome ◽  
Somatic Mutation ◽  
Poor Prognosis ◽  
Somatic Mutations ◽  
Prognostic Significance ◽  
Multivariable Analysis ◽  
Normal Karyotype ◽  
Next Generation ◽  
Generation Sequencing

Purpose: Somatic mutations are common in myelodysplastic syndrome (MDS), but its risk stratification is mainly based on cytogenetics. This study was to explore the prognostic significance of somatic mutations in MDS patients with normal karyotypes. Patients and Methods: Three hundred and four patients with MDS were enrolled in this retrospective study. A genomic panel of 127 gene targets were detected by next-generation sequencing. Results: Two hundred and Eighty-one (92.4%) patients carried at least one somatic mutation, while cytogenetics identified abnormalities in 140 (46.1%) patients. The 5 most frequently mutated genes were TET2, ASXL1, EZH2, TET1, FAT1, and TET2, TP53, TET1, EP300, SF3B1 in the patients with normal karyotypes and aberrant karyotypes, respectively. When mutations detected in >5% of the whole cohort, they were included in analysis and the results showed that the frequency of TET2, TP53, ASXL1, CD101, KDM6A, SH2B3 and IL-3RA mutations was different between two groups(all P<0.05). ASXL1, CD101, KDM6A, SH2B3, IL-3RA mutations were more common in normal karyotype group, while TET2 and TP53 were more common in aberrant karyotype group. Multivariable analysis showed that age (HR 1.02; P=0.027), IPSS-R(HR 1.80; P<0.0001), TP53(HR 2.36; P<0.0001) and DNMT3A (HR 1.83, P=0.044) were the risk factors while allo-HSCT(HR 0.50; P=0.001) was a protect factor for OS in the whole cohort. For sub-group analysis, IPSS-R(HR 1.54; P=0.005; HR 1.80; P<0.0001, respectively), TP53 mutation(HR 2.49; P=0.030; HR 2.13; P=0.005, respectively) and allo-HSCT(HR 0.52; P=0.040; HR 0.37; P<0.0001, respectively) retained the prognostic significance in both the normal karyotype and aberrant karyotype group. FAT1(HR 2.32; P=0.019), DNMT3A(HR 3.32; P=0.006) and IL-7R(HR 4.35; P=0.002) mutations were unfavorable factors for OS only in the normal karyotype group. Conclusion: FAT1, IL-7R and DNMT3A mutations pretict poor prognosis in MDS patients with normal karyotypes. Key words: Somatic mutation, Next-generation sequencing, Prognosis, Myelodysplastic syndrome Disclosures No relevant conflicts of interest to declare.

Usefulness of Genetic Study by Next-generation Sequencing in High-risk Arrhythmogenic Cardiomyopathy

2018 ◽  
Vol 71 (12) ◽  
pp. 1018-1026
Author(s):  
Amalio Ruiz Salas ◽  
José Peña Hernández ◽  
Carmen Medina Palomo ◽  
Alberto Barrera Cordero ◽  
Fernando Cabrera Bueno ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
High Risk ◽  
Genetic Study ◽  
Next Generation ◽  
Arrhythmogenic Cardiomyopathy ◽  
Generation Sequencing
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