Multifocal skeletal tuberculosis: A case report

Zhang, Liang; Wang, Jingcheng; Feng, Xinmin; Tao, Yajun; Yang, Jiandong; Zhang, Shenfei; Cai, Jianfei

doi:10.3892/etm.2016.3032

Cited by 9 publications

(6 citation statements)

References 11 publications

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“…Targeted NGS of 144 known deafness genes (see complete list of the genes in Supplementary Table S1 in Supplementary Material available online at http://dx.doi.org/10.1155/2016/3018132) was performed in proband III-3 using the MyGenotics gene enrichment system (MyGenotics, Boston, MD, USA) and the Illumina HiSeq 2000 sequencer (Illumina, San Diego, CA, USA) as previously described [10]. Whole exome sequencing was performed in family members I2, III2, III4, and I1 using the Agilent SureSelect V5+UTR Exome Enrichment Kit (Agilent, Santa Clara, CA, USA) and the Hiseq X Ten sequencer (Illumina, San Diego, CA, USA) as previously reported [11]. The reads were aligned to HG19 using the BWA software and the variants were called using the Genome Analysis Toolkit (GATK), both with the default parameters.…”

Section: Methodsmentioning

confidence: 99%

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NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness

Chen

Pang

et al. 2016

Neural Plasticity

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Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness. No pathogenic mutation was identified by targeted NGS in 72 nonsyndromic and another 72 syndromic deafness genes. Whole exome sequencing, however, identified a p.E313K mutation in NLRP3, a gene reported to cause syndromic deafness Muckle-Wells Syndrome (MWS) but not included in any targeted NGS panels for deafness in previous reports. Follow-up clinical evaluation revealed only minor inflammatory symptoms in addition to deafness in six of the nine affected members, while the rest, three affected members, including the proband had no obvious MWS-related inflammatory symptoms. Immunostaining of the mouse cochlea showed a strong expression of NLRP3 in the spiral ganglion neurons. Our results suggested that NLRP3 may have specific function in the spiral ganglion neurons and can be associated with both syndromic and nonsyndromic sensorineural deafness.

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Section: Methodsmentioning

confidence: 99%

“…Immunostaining of the mouse cochlea was performed as previously described [11]. Briefly, P60 mouse cochlea was extracted, perfused, and fixed in PFA overnight.…”

Section: Methodsmentioning

confidence: 99%

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness

Chen

Pang

et al. 2016

Neural Plasticity

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“…MRI helps in better lesion characterisation. The lesions usually appear iso-hypointense on T1 and hyperintense on T2 and show heterogeneous post-contrast enhancement [17]. We have described a case of multifocal skeletal tuberculosis in a young patient.…”

Section: Musculoskeletalmentioning

confidence: 94%

Unusual patterns of tuberculosis on cross-sectional imaging: a pictorial review

Rana

Krishnan

Aggarwal

2022

Egypt J Radiol Nucl Med

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Background Tuberculosis is routinely encountered on imaging throughout the world. Radiologists are usually familiar with the common patterns of tuberculosis on cross-sectional imaging. However, tuberculosis frequently presents with unfamiliar imaging patterns and/or uncommon anatomic sites which still pose a diagnostic challenge. Discussion Rapid improvements in the management of acquired immunodeficiency syndrome patients leading to increased survival as well as advances in chemotherapy and immunosuppressive medication have complicated the presentation of tuberculosis by increasing the probability of unconventional sites and patterns of involvement in tuberculosis leading to unfamiliar imaging appearances. In this review, we describe these unfamiliar imaging patterns of tuberculosis and provide a diagnostic protocol for arriving at the right diagnosis and differentiating these from other pathologies with similar imaging appearances. These are described through case-based illustrations of unusual patterns and anatomic locations of tuberculosis. Conclusions It is important for radiologists to be aware of such unusual imaging patterns of tuberculosis in order to facilitate early and accurate diagnosis for appropriate patient management in the face of changing patient demographics and pathological profile of tuberculosis in the current era of scientific advancements.

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“…In this case report, which showed unusual radiological findings that were more indicative of malignancy or metastatic disease, a rare case of atypically disseminated multifocal skeletal and multisystemic TB was identified. Thus, due to the complex and atypic clinical findings of multifocal skeletal TB, it is easy to misdiagnose the disease [ 1 ].…”

Section: Commentmentioning

confidence: 99%