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Tuberculous Otitis Media—A Rare Entity or a Missed Diagnosis
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作者 D. S. Deenadayal Bashetty Naveen Kumar +1 位作者 Vyshanavi Bommakanti K. Lakshmi Sameeri 《International Journal of Otolaryngology and Head & Neck Surgery》 2016年第2期65-72,共8页
Objective: The aim of the study is to look for indicators of Tuberculous Otitis Media in all cases of chronic suppurative otitis media. Study Design: This is a retrospective study. Setting: This study was conducted in... Objective: The aim of the study is to look for indicators of Tuberculous Otitis Media in all cases of chronic suppurative otitis media. Study Design: This is a retrospective study. Setting: This study was conducted in a tertiary care centre. Subjects and Methods: Detected cases of tuberculous otitis media (TBOM) cases studied retrospectively from January 2011 to December 2013 were included in the study. Investigations for tuberculosis were considered in the cases showing suspicious pale granulation tissue in the external auditory canal and middle ear and also in cases showing exuberant pale granulation tissue during mastoid surgery where Zeihl Nielson staining, histopathology, molecular genetic study was done. Cases showing positive result were included in the study. Results: During the study period 751 cases of CSOM were seen in outpatient room of which 18 cases of TBOM were diagnosed. Three patients were diagnosed preoperatively and 181 underwent surgery of which 15 cases were diagnosed positive, from the tissue obtained during the procedure. Direct smear was positive in four cases, concentration techniques in seven cases. Line probe assay was taken as diagnostic in all the cases. None of the cases were positive on histopathology. Conclusion: Tuberculous otitis media is often missed as the classical features are not seen in all cases of TBOM. The absence of these should not stop the clinician from diagnosing the disease. Suspicious tissue should therefore be tested properly to avoid missing the diagnosis and to prevent any complications. 展开更多
关键词 Tuberculous Otitis Media Molecular genetic assay Line Probe assay Anti Tuberculous Therapy
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A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening 被引量:1
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作者 Baoheng Gui Pu Yang +6 位作者 Zhongyuan Yao Yanping Li Donge Liu Nenghui Liu Sijia Lu Desheng Liang Lingqian Wu 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2016年第3期155-159,共5页
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a population prevalence of 1 in 2500. CMT disease type 1A (CMT1A), accounting for ~70% of CMT1 cases and ~ 50% of all CMT cases, is ... Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a population prevalence of 1 in 2500. CMT disease type 1A (CMT1A), accounting for ~70% of CMT1 cases and ~ 50% of all CMT cases, is transmitted in an autosomal dominant manner. CMT1A maps to chromo- some 17pl 1.2 and is caused, in the majority of cases, by a 1.4- Mb tandem duplication that includes the peripheral myelin protein22 (PMP22) gene (Li et al., 2013). The disease usually presents in the first 20 years of age, causing difficulty in walking or running, distal symmetrical muscle weakness and wasting, and sensory loss (van Paassen et al., 2014). 展开更多
关键词 A New Next-Generation Sequencing-Based assay for Concurrent Preimplantation genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening CNVs
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