The present study aimed to perform chromosome examination and pedigree analysis on three patients with semen abnormality who had undergone in vitro fertilization–embryo transfer (IVF‐ET). Peripheral blood cell culture and chromosome karyotyping were performed on 4,200 individuals who had undergone chromosome examination. Among them, 155 pregnant women who had successfully conceived were subjected to amniotic cell culture and chromosome karyotyping and those with abnormal chromosome karyotype were further subjected to C‐banding and whole‐genome sequencing. Mosaicism for a 46,X,inv(Y)(p11.2q11.2)pat/45,X karyotype was identified in the probands and immediate adult male relatives. The incidence of this mosaicism in the study population was only 0.07% (3/4,200), which is reported for the first time. For the proband of pedigree A, the results of whole‐genome sequencing and other tests were normal, and the chromosome karyotype of IVF fetuses was 46,X,inv(Y)(p11.2q11.2)pat. All the male members of three pedigrees have normal phenotypes, with no features of Turner's syndrome (45,X) or hermaphroditism (45,X/46,XY), suggesting that the inverted Y chromosome is extremely unstable and particularly susceptible to loss in somatic cells. So we speculate this karyotype may be a unique type of inverted Y chromosome in somatic cells.
Objective Although the interferon-γ release assay (IGRA) has become a common diagnostic method for tuberculosis, its value in the diagnosis of tuberculosis in human immunodeficiency virus (HIV) seropositive patients remains controversial. Therefore, this systematically reviews the data for exploring the diagnostic value of IGRA in HIV-infected individuals complicated with active tuberculosis, aiming to provide a clinical basis for future clinical diagnosis of the disease. Methods Relevant studies on IGRA for diagnosing tuberculosis in HIV-infected patients were comprehensively collected from Excerpta Medica Database (EMBASE), Medline, Cochrane Library, Chinese Sci-tech Periodical Full-text Database, Chinese Periodical Full-text Database, China National Knowledge Infrastructure (CNKI) and China Wanfang Data up to July 2020. Subsequently, Stata 15.0, an integrated statistical software, was used to analyse the sensitivity, specificity, diagnostic odds ratio (DOR), positive likelihood ratio (PLR) and negative likelihood ratio (NLR) to create receiver operator characteristic (ROC) curves. Results A total of 18 high-quality articles were selected, including 20 studies, 11 of which were related to QuantiFERON-TB Gold In-Tube (QFT-GIT) and nine to T-SPOT.TB. The meta-analysis indicated that the pooled sensitivity = 0.75 (95% CI 0.63–0.85), the pooled specificity = 0.82 (95% CI 0.66–0.92), PLR = 4.25 (95% CI 1.97–9.18), NLR = 0.30 (95% CI 0.18–0.50), DOR = 14.21 (95% CI 4.38–46.09) and the area under summary ROC curve was 0.85 (95% CI 0.81–0.88). Conclusion IGRA has a good diagnostic value and therefore can aid in the preliminary screening of active tuberculosis in HIV-infected individuals. Its diagnostic effectiveness can be improved by modifying and optimizing the assay design.
Background China has seen a drastic increase in the incidence of non-tuberculous mycobacteria (NTM) infection, which is a notable public health issue. Due to a lack of reliable epidemiological surveillance information, there is a need to gather accurate epidemiological and surveillance data, which can help clinicians effectively treat NTM patients. Moreover, drug susceptibility testing for NTM is not frequently performed in China. This retrospective study, therefore, determined the prevalence and resistance characteristics of NTM to provide a reference to control the NTM epidemic. Methods Sputum, alveolar lavage fluid, and other respiratory specimens were collected from 3025 patients with suspected pulmonary tuberculosis attending The Second Affiliated Hospital of Hainan Medical University from January 2014 to December 2021. Strain identification and species distribution of NTM were performed by DNA chip technology and gene sequencing, and the drug resistance of NTM isolates was evaluated by calculating the minimum inhibitory concentration through antimicrobial susceptibility testing for NTM. Results From 2014 to 2021, 373 strains of NTM were isolated and identified from respiratory specimens of 3025 suspected tuberculosis patients. Except in 2014, NTM-infected patients accounted for more than 10% of suspected tuberculosis patients in other years. The median age of patients with NTM infection was 62.0 years (53.0, 71.0), and the male-to-female ratio among these patients was 0.79:1. Among culture-positive strains, 12.3% (373/3040; 95% CI 11.1–13.4%) were identified as NTM comprising forty species of NTM. The forty species of NTM included 23 slow-growing mycobacteria (SGM) and 17 rapidly-growing mycobacteria (RGM). Among the NTM isolates, 58.7% (219/373; 95% CI 53.7–63.7%) were SGM and 41.3% (154/373; 95% CI 36.3–46.3%) were RGM. M.avium complex(MAC)(41.3%; 95% CI 36.3–46.3%) and M.abscessus complex (MABC)(33.2%; 95% CI 28.4–38.0%) were the most frequently detected species, followed by M.simiae Complex (11.8%; 95% CI 8.5–15.1%), M.fortuitum group (5.1%; 95% CI 2.9–7.3%), and others. Drug sensitivity test results showed that most of the NTM isolates were susceptible to amikacin and clarithromycin with a drug resistance rate of less than 10%. However, clarithromycin could induce drug resistance, followed by linezolid and moxifloxacin, and their drug resistance rate was less than 50%. Conclusion During 2014–2021, the number of NTM isolates detected in the respiratory specimens of the study patients in The Second Affiliated Hospital of Hainan Medical University increased year by year. M. intracellulare is the most common pathogenic NTM species, and there is a high incidence of NTM infection on Hainan Island. Our findings might be of great importance for diagnosing and treating this p...
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