There is a worldwide interest in studying SLC26A4 mutations that are responsible for enlarged vestibular aqueduct (EVA) in different ethnic background and populations. The spectrum of SLC26A4 mutations in Chinese population is yet to be fully characterized. In this study, all the 21 exons of SLC26A4 were screened in 107 Chinese patients with hearing loss associated with EVA or both EVA and Mondini dysplasia (MD), taken from six multiplex and 95 simplex families. The two types of control populations consisted of 84 normal-hearing subjects and 46 sensorineural hearing loss subjects without inner ear malformations. Biallelic mutations were found in 12 patients from multiplex families and 84 patients (88.4%) from the simplex families. In addition, monoallelic variant was detected in nine patients in the remaining 11 simplex families. Overall, up to 97.9% patients were found having at least one possible pathogenic variant in SLC26A4, with most having biallelic variants consistent with recessive inheritance of this disorder. A total of 40 mutations including 25 novel mutations were identified in the Chinese patients but were not detected in all the controls except for one normal subject. For the Chinese mutation spectrum of SLC26A4 gene, IVS 7-2A>G mutation was the most common form accounting for 57.63% (102/177) of all the mutant alleles.

The high reactive oxygen species (ROS) generation ability and simple construction of sonosensitizer systems remain challenging in sonodynamic therapy against the hypoxic tumor. In this work, we rationally prepared MOF‐derived double‐layer hollow manganese silicate nanoparticle (DHMS) with highly effective ROS yield under ultrasound irradiation for multimodal imaging‐guided sonodynamic therapy (SDT). The presence of Mn in DHMS increased ROS generation efficiency because it could be oxidized by holes to improve the electron–hole separation. Moreover, DHMS could produce oxygen in the tumor microenvironment, which helps overcome the hypoxia of the solid tumor and thus enhance the treatment efficiency. In vivo experiments demonstrated efficient tumor inhibition in DHMS‐mediated SDT guided by ultrasound and magnetic resonance imaging. This work presents a MOF‐derived nanoparticle with sonosensitive and oxygen generating ability, which provides a promising strategy for tumor hypoxia in SDT.

Matrix metalloproteinases-9 (MMP-9) was one of the most important enzyme to breakdown extracellular matrix, aim to clarify the prognostic value of MMP-9 in non-small cell lung cancer (NSCLC), we investigated the serum MMP-9 of NSCLC patients and performed a meta-analysis of the published literature. The expression and activity of serum MMP-9 were assessed by ELISA and gelatin zymography in 163 NSCLC patients. Moreover, 26 studies were included in meta-analysis by searching Medline and ISI Web of Knowledge. Our own data revealed high activity but not expression of MMP-9 significantly correlated with advanced T category and positive metastasis. In contrast, the meta-analysis revealed that increased MMP-9 level indicate high T category (RR = 0.83, 95% CI: 0.73-0.94), tumor stage (RR = 0.72, 95% CI: 0.63-0.82) and poor OS (5-year overall survival, RR = 1.32, 95% CI: 1.19-1.48). Moreover, stratified analysis based on sample types found that high MMP-9 expression in tissue specimen but not serum was significant correlated with advanced T category (RR = 0.81, 95% CI: 0.72-0.92), tumor stage (RR = 0.69, 95% CI: 0.60-0.80) and poor 5-year OS (1.33, 95% CI: 1.18-1.50). In conclusion, the activity of MMP-9 was positively correlated with advanced T category and distant metastasis. Moreover, the meta-analysis revealed that overexpression of MMP-9 in tissue but not in serum was a risk factor of advanced T category, tumor stage and poor outcome.

Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and non-syndromic forms of deafness in the Chinese population are caused by defects in a small number of genes. Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chinese deaf patients as well as a unique spectrum of common and rare deafness gene mutations in the Chinese population. This review is focused on the genetic aspects of non-syndromic and mitochondrial deafness, in which unique molecular genetic features of hearing impairment have been identified in the Chinese population. The current China population is approximately 1.3 billion. It is estimated that 30 000 infants are born with congenital sensorineural hearing loss each year. Better understanding of the genetic causes of deafness in the Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.

Studies have indicated the significance of tumor associated macrophages (TAMs) in breast cancer; however, inconsistent results still exist. We retrospectively reviewed the macrophage distribution in 1579 breast cancer specimens with anti-CD68 or anti-CD163 immunohistochemical staining, and further analyzed the overall survival data. Furthermore, we performed a retrospective study and systematic review of the published studies on CD68- and CD163-positive macrophages in non-metastatic breast cancer. 13 studies with 5116 patients were included in this meta-analysis. Our own data revealed a high density of both CD68- and CD163-positive TAMs that was significantly related to lymph node metastasis (CD68, P = 0.003; CD163, P < 0.001); high Ki67 (CD68, P = 0.026; CD163, P < 0.001), poor histological grade (CD68, P < 0.001; CD163, P < 0.001) and hormonal receptor negativity (CD68, P < 0.001; CD163, P < 0.001); only CD163-positive TAMs were associated with poor overall survival (P = 0.003). Nonetheless, the meta-analysis only found that CD68- and CD163-positive TAMs were associated with high Ki67 [CD68, Relative risk (RR): 1.18, 95% confidence interval (CI): 1.09-1.28; CD163, RR: 1.75, 95% CI: 1.39-2.20], advanced histological grade (CD68, RR: 1.72, 95% CI: 1.46-2.03; CD163, RR: 1.99, 95% CI: 1.35-2.94) and low hormonal receptor levels (CD68, RR: 0.75, 95% CI: 0.69-0.82; CD163, RR: 0.82, 95% CI: 0.74-0.90), but not lymph node metastasis and HER2 expression. This meta-analysis further supports the clinical significance of TAMs in breast cancer, and both CD68- and CD163-positive TAMs could be prognostic markers in non-metastatic breast cancer.