Occupational noise-induced hearing loss (NIHL) is an irreversible sensorineural hearing loss that severely endangers workers’ health, making early screening crucial. This article reviewed the research progress on early screening methods for occupational NIHL, introduced the testing mechanisms of three core screening methods—tympanometry, otoacoustic emissions, and extended high-frequency audiometry —and summarized their clinical application advantages and limitations. It is proposed that multimodal combined detection (e.g., the combination of tympanometry, otoacoustic emissions, and extended high-frequency audiometry) can significantly improve the accuracy and comprehensiveness of early screening. Meanwhile, future studies with prospective cohort design are encouraged to verify the long-term monitoring value of each method and to strengthen the joint development of screening technologies with cutting-edge approaches such as machine learning, in order to further improve screening efficiency and provide stronger protection for workers’ hearing health.

OBJECTIVETo detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.

METHODSClinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.

RESULTSTwo missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene, were identified in the proband. The mother and father of the proband were found to harbor the c.937G>A and c.1205C>T mutation, respectively, whilst neither mutation was found in her brother.

CONCLUSIONThe novel missense CLCN1 mutations probably underlie the disease in this family. These have enriched the spectrum of CLCN1 mutations and may facilitate further research on this disorder.

Objective To investigate the significance of miR-193b to biological behaviors of hepatocellular carcinoma (HCC). Methods 48 cases of HCC specimens and corresponding adjacent tissues were collected, and the miR-193b expression levels in these specimens were measured by real-time quantitative PCR. The miR-193b expression was measured by the same way in HepG2 and SMMC-7721 cells. The HepG2 and SMMC-7721 were transfected with miR-193b mimics or negative control miRNA mimic with Lipofectamine 2000, and the non-transfected cells were taken as blank control. The proliferation ability of the HCC cells were detected by MTT method, and the apoptosis rate was tested by flow cytometry. Results The expression level of miR-193b in HCC tissues (2.441 ±0.569) was significantly lower than that in the corresponding adjacent tissues (15.488±4.326) (P < 0.05). Compared with normal liver cell line L-O2, the expression levels of miR-193b were significantly lower in HepG2 and SMMC-7721 cells. Transfected with miR-193b mimic, the proliferation ability of HepG2 and SMMC-7721 cells were reduced, while their apoptosis were increased. Conclusion miR-193b may be negative to regulate the proliferation of HCC and increase its apoptosis.

Objective To investigate the clinical features and pathogenic genes of a familial hypokalemic periodic paralysis ( HOKPP).Methods PCR amplification and DNA sequencing were used to screen candidate genes of the HOKPP family members (CACNA1S, SCN4A, KCNE3), and the clinical features were carefully analyzed at the same time.Results The sequencing analyses of the SCN4A gene in the proband identified three nucleotide sequence mutations, which influenced the amino acid sequence of the skeletal sodium channel.One of the mutations was identified as a C/T heterozygous pattern at the 2111th nucleotide position in exon 13, resulting in a change from Thr to Met at the 704th amino acid position of the sodium channel protein.All affected patients carried the Thr704Met mutation, whereas unaffected family members did not.Clinical symptoms in this family followed an autosomal dominant inheritance pattern.Muscles weakness, pain and hypokalemia in the period between attacks were seen in all patients.Paralytic symptoms occurred early, lasted longer and recurred frequently, while cold was the main predisposing factor.With the progress of the disease, patients represented persistent weakness and atrophy in proximal muscles.Conclusions Mutation (Thr704Met) in the SCN4A gene should be responsible for this family.This mutation causes severe HOKPP and progressive muscle atrophy.

Objective To investigate the correlation between aneurysmal subarachnoid hDepartment of Neurosurgery,Xi Dian Group Hospital,Xi'an 710077,Chinaemorrhage (aSAH) and myocardial dysfunction (MD).Methods Totally 96 cases of aSAH patients meeting the criterion were chosen,and the correlations of electrocardiograph (ECG),and ultrasonic cardiogram (UCG)with delayed cerebral ischemia (DCI),death and poor outcome and death were analyzed.Results Of the 93 cases of aSAH patients meeting the criterion,DCI rate was 59.2％,death rate was 19.4％,and poor outcome rate was 21.5％.With multivariable Poisson regression analysis,the results showed that wall motion score index (WMSI) ＞ 1.1 was correlated with death and poor outcome,mid-ventricular wall motion abnormality (WMAs) was correlated with death,and apical WMAs was correlated with DCI.Conclusions Myocardial dysfunction is significantly related to outcome of aSAH.Thus,this study may provide a reference for prognosis assessment and treatment of aSAH.

Objective:To investigate the expression and mechanism of NF-κB signal pathway in murine lupus nephritis.Methods:The BXSB mice as well as C57BL/6 of 16 weeks were used.Transmission electron microscope and PAS were used to detect the pathological change of renal tissue.RT-PCR and ELISA were used to detect the expression of HMGB1 mRNA and protein.The expression of HMGB1,p- NF-κB,RAGE,IκB and PCNA protein was detected by immunohistochemical stain,FCM and Western blot.Results:The level of BUN in serum and Micro-albumin in urine of BXSB mice was higher than that in C57BL/6 mice.The expression of HMGB1 mRNA and HMGB1 protein level in peripheral blood increased significantly in BXSB group.Compared with those in control group,electron microscopy and PAS revealed the thickness of glomerular basement membrane(GBM),fusion of foot processes partly of epithelial dell and subepithelial electron-dense deposits in the renal tissue of BXSBA mice.Compared with that of control group,expression of PCNA was higher in glomeruli of BXSB mouse.HMGB1 protein over-expression localized in cytoplasm and extracellular milieu,especially in proliferative glomeruli in BXSB group,while the HMGB1 protein primarily confined to the nuclear of tubule in control group.In BXSB group,the expression of p-NF-κB and RAGE increased,while the expression of IκB decreased.There were positive correlation between the expression of HMGB1,RAGE and p-NF-κB protein (r=0.833,0.621,0.848,P＜0.01),while the expression of p-NF-κB protein negatively correlated with that of IκB.Conclusion:HMGB1 could activate NF-κB through combining with its receptor-RAGE,induce the form of proliferative glomerulonephritis by promoting the proliferation of inherent cell of glomeruli,which may play an important role in the murine lupus nephritis.