Diagnosis and Genotyping of Coxiella burnetii Endocarditis in a Patient with Prosthetic Pulmonary Valve Replacement Using Next-Generation Sequencing of Plasma Microbial Cell-Free DNA

Kondo, Maiko; Dalai, Sudeb C.; Venkatasubrahmanyam, Shivkumar; Eisenberg, Nell; Robinson, Brian D.; Westblade, Lars F.; Marks, Kristen

doi:10.1093/ofid/ofz242

Cited by 25 publications

(14 citation statements)

References 11 publications

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“…They call this "cell free" DNA based on the terminology used in human clinical genomics. There have been a few case reports showing utility for the diagnosis of culture-negative endocarditis and invasive Mycobacterium chimaera disease [71,72]. In a single center clinical study looking at results of this test sent from children with a variety of indications, Rossoff et al found a 70% positivity rate [73].…”

Section: Next-generation Sequencing and Clinical Metagenomicsmentioning

confidence: 99%

Appropriate Use and Future Directions of Molecular Diagnostic Testing

Graf

Pancholi

2020

Curr Infect Dis Rep

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Purpose of Review Major technologic advances in two main areas of molecular infectious disease diagnostics have resulted in accelerated adoption or ordering, outpacing implementation, and clinical utility studies. Physicians must understand the limitations to and appropriate utilization of these technologies in order to provide cost-effective and well-informed care for their patients. Recent Findings Rapid molecular testing and, to a lesser degree, clinical metagenomics are now being routinely used in clinical practice. While these tests allow for a breadth of interrogation not possible with conventional microbiology, they pose new challenges for diagnostic and antimicrobial stewardship programs. This review will summarize the most recent literature on these two categories of technologic advances and discuss the few studies that have looked at utilization and stewardship approaches. This review also highlights the future directions for both of these technologies. Summary The appropriate utilization of rapid molecular testing and clinical metagenomics has not been well established. More studies are needed to assess their prospective impacts on patient management and antimicrobial stewardship efforts as the future state of infectious disease diagnostics will see continued expansion of these technologic advances.

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Section: Next-generation Sequencing and Clinical Metagenomicsmentioning

confidence: 99%

Appropriate Use and Future Directions of Molecular Diagnostic Testing

Graf

Pancholi

2020

Curr Infect Dis Rep

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“…In our setting, the NGS was performed in a private laboratory with the cost of RMB 4,500 (~698 USD) per sample and the turn-around-time for these two cases were two days, making the use of this robust technology pragmatic and affordable in the clinical setting. It is of note that Q fever has been diagnosed a few times using NGS in the literature [ 20 – 22 ], including a recent outbreak in southern China [ 21 ]. In that outbreak, plasma samples from 138 out of 2382 patients who had fever of unknown source were tested positive for C .…”

Section: Discussionmentioning

confidence: 99%

Diverse and atypical manifestations of Q fever in a metropolitan city hospital: Emerging role of next-generation sequencing for laboratory diagnosis of Coxiella burnetii

et al. 2022

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Although Q fever has been widely reported in the rural areas of China, there is a paucity of data on the epidemiology and clinical characteristics of this disease in large metropolitan cities. In this study, we profile the epidemiology and clinical manifestations of Q fever from a tertiary hospital in Shenzhen, a Southern Chinese metropolitan city with a large immigrant population from other parts of China. A total of 14 patients were confirmed to have Q fever during a nine-year-and-six-month period, five of whom were retrospectively diagnosed during case review or incidentally picked up because of another research project on unexplained fever without localizing features. Some patients had the typical exposure histories and clinical features, while a few other patients had rare manifestations of Q fever, including one with heart failure and diffuse intracapillary proliferative glomerulonephritis, a patient presenting with a spontaneous bacterial peritonitis-like syndrome, and another one with concomitant Q fever and brucellosis. Using a combination of clinical manifestation, inflammatory marker levels, echocardiographic findings and serological or molecular test results, nine, three and two patients were diagnosed to have acute, chronic and convalescent Q fever, respectively. Seven, five and two patients were diagnosed to have Q fever by serological test, nested real-time PCR and next-generation sequencing respectively. Diverse and atypical manifestations are associated with Q fever. The incidence of Q fever is likely to be underestimated. Next-generation sequencing is becoming an important diagnostic modality for culture-negative infections, particularly those that the physicians fail to recognize clinically, such as Q fever.

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“…Recent research reported an epidemic of Q fever confirmed by mNGS in 2018-2019 in Zhuhai city (29). Besides, Maiko's study conducted next-generation sequencing of plasma microbial cellfree DNA on a patient with prosthetic pulmonary valve culturenegative endocarditis to quickly diagnosis and genotyping of C. burnetii, to ensure early targeted therapy before valve replacement surgery (30). Furthermore, Huang et al (31) has reported a case of tick-transmitted Q fever diagnosed by nextgeneration sequencing in Lishui, China, which lacks serological verification.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Metagenomic Next-Generation Sequencing Clinches the Diagnosis of Acute Q Fever and Verified by Indirect Immunofluorescence Assay

et al. 2022

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Q fever is a zoonotic infectious disease caused by Coxiella burnetii. The clinical symptoms of acute Q fever are usually atypical, and routine serological tests of C. burnetii are not readily available, making the diagnosis of Q fever a challenge. In this case, we report a male patient who had repeated fevers and was administered empirical anti-infective treatment, but the effect was poor. After conducting relevant laboratory and imagological examinations, the etiology has not yet been confirmed. Subsequently, metagenomic next-generation sequencing (mNGS) identified the sequence reads of C. burnetii from the patient's peripheral blood within 48 h, and then the diagnosis of acute Q fever was established. Moreover, the serological test of indirect immunofluorescence assay (IFA) of the C. burnetii antibody was further performed in the Centers for Disease Control, certifying the result of mNGS. The patient was ultimately treated with doxycycline and recovered well. mNGS is an unbiased and comprehensive method in infrequent or culture-negative pathogen identification. To our knowledge, this is the first case of acute Q fever identified by mNGS and confirmed by IFA in Taizhou, China. A further large-scale prospective clinical cohort study is worth carrying out to compare the diagnostic efficiency of mNGS with traditional serological methods and PCR in acute Q fever.

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Diagnosis and Genotyping of Coxiella burnetii Endocarditis in a Patient with Prosthetic Pulmonary Valve Replacement Using Next-Generation Sequencing of Plasma Microbial Cell-Free DNA

Cited by 25 publications

References 11 publications

Appropriate Use and Future Directions of Molecular Diagnostic Testing

Appropriate Use and Future Directions of Molecular Diagnostic Testing

Diverse and atypical manifestations of Q fever in a metropolitan city hospital: Emerging role of next-generation sequencing for laboratory diagnosis of Coxiella burnetii

Case Report: Metagenomic Next-Generation Sequencing Clinches the Diagnosis of Acute Q Fever and Verified by Indirect Immunofluorescence Assay

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