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Objective@#To learn the mutation types and hearing screening results in local newborns of Zhoushan,in order to provide evidence for prevention and early detection of deafness.@*Methods@#The newborns in Zhoushan Maternal and Child Health Hospital from August 2015 to May 2018 were recruited and detected by matrix-assisted laser desorption ionization time of flight mass spectrometry（MALDI-TOF-MS）for twenty-two mutation sites of GJB2,SLC26A,GJB3 and 12SrRNA genes. The results of genotyping and hearing screening were analyzed and the hearing condition of abnormal newborns was followed up. @*Results@# Among 4 029 newborns,180（4.47%）newborns were identified to carry mutations,including 94 males（4.66%）and 86 females （4.28%）. There was no statistically significant difference in the rate of carrying mutations between male and female infants （P>0.05）. Totally 135 （3.35%）newborns failed in primary hearing screening,13（9.63%）of whom carried the deafness genes;3 894（96.65%）newborns passed,167（4.29%）of whom carried the deafness gene. There was statistically significant difference in the the rate of carrying mutations between newborns who passed and failed in primary hearing screening （P<0.05）. Eleven newborns were diagnosed with hearing loss,with a rate of 2.73‰. Among 180 mutations identified,there were 91 GJB2 mutations（2.26%）,57 SLC26A4 mutations（1.41%）,14 GJB3 mutations （0.35%）,15 mtDNA 12SrRNA mutations （0.37%）and 3 with mutations of two genes （0.07%）. Sixteen mutation sites （184 cases）were found,and the detection rate was 4.57%. @*Conclusion@#The rate of carrying deafness genes in Zhoushan newborns was 4.47%. The deafness genes found were mainly GJB2 and SLC26A4,the carrying rate of mtDNA 12SrRNA gene mutation was also high.
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Objective To investigate the clinical and laboratory features of IgG-2κ light chain multiple myeloma. Methods The clinical data and laboratory results of 2 multiple myeloma (MM) patients with IgG-2κ light chain were analyzed and the related literatures were reviewed. Results Two male and 1 female patients were 50-82 years old and mainly suffered with backache, infection, anemia and renal dysfunction. Multiple osteolytic bone destruction was detected in X-ray as well as magnetic resonance imaging (MRI). The level of serum IgG was normal, slight or obviously increased, but the levels of IgA and IgM were decreased. The levels of κ light chain in serum and urine were both increased significantly, and Bence-Jones protein was positive. Double M protein peaks of serum in γ area were detected by protein electrophoresis in 2 patients. A single band of IgG and double bands of light chain κ were revealed by immunofixation electrophoresis. Bone marrow smear showed that abnormal plasma cells were increased obviously. One patient gave up chemotherapy because of lung infection, acute left heart failure and acute renal failure, the others 2 patients achieved partial remission and stable disease by receiving DVD and VAD chemotherapy. Conclusions IgG-2κ light chain MM lacks typical clinical presentation, but some laboratory characteristics may be different from those of IgG-κ light chain. Further researches are needed to confirm whether or not it belongs to biclonal MM.
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Objective To investigate the expression and clinical significance of neutrophil S100A8/A9 in induced sputum in children with bronchial asthma. Methods A total of 108 cases of bronchial asthma patients in the FourthAffiliated Hospital of Nanchang University were involved in the study form October 2014 to October 2015. According to the severity of the disease, the patients were divided into mild group (n=40), moderate group (n=36) and severe group (n=32). Twenty health children were taken as control group at the same period. All the patients were treated with budesonide aerosol for three months, and the control group was received aerosol inhalation for normal saline (NS). The ratio of forced expiratory volume in one second and forced vital capacity (FEV1/FVC, FEV1%) were used to evaluate the pulmonary function in two groups. The asthma control questionnaire (AcQ-5) score was used to estimate the asthma control effects. The expression level of neutrophil S100A8/A9 mRNA in induced sputum was detected by real-time PCR. The correlation of S100A8/A9 mRNA, AcQ-5 score and FEV1%was analyzed. Results Before the treatment, the FEV1%decreased, while the AcQ-5 score and express level of S100A8/A9 mRNA significantly increased with the severity of disease (all P<0.01). Three months after treatment, asthma was completely controlled in 60 patients, partial controlled in 31 cases and uncontrolled in 17 cases. With the improvement of the therapeutic efficacy, the FEV1%significantly decreased, while the express level of S100A8/A9 mRNA significantly increased (all P < 0.01). The express level of S100A8/A9 mRNA in induced sputum neutrophils was negatively correlated with FEV1%(r=-0.327 and-0.406 respectively, P<0.05), which was positively correlated with ACQ-5 score (r=0.704 and 0.817, P<0.05). Conclusion The level of S100A8/A9 expression in induced sputum neutrophil is positively correlated with the severity of asthma, which can be used as clinical indicators of the severity and the efficacy of asthma.
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Objective To observe the clinical feasibility of the acceptable noise level (ANL) test ,analyze the effect of different test instructions to the result of Mandarin acceptable noise level test .Methods Twelve young peo-ple (24 ears) with normal pure-tone test and acoustic immittance test (threshold≤15 dB HL) were included in this study .They were randomly divided into two groups with 12 ears in each group .Group A received the same test in-struction firstly and then received different instructions depended on the different translation of English instruction by tester .Group B received the reverse test order .The acceptable noise level(ANL) ,most comfortable level(MCL) and back groud noise level(BNL) were analyzed .Results The average value of ANL was 7 .5 ± 6 .61 and 8 .29 ± 6 .54 dB SPL ;the average value of most comfortable level (MCL) was 83 .58 ± 8 .57 and 85 .41 ± 8 .89 dB SPL ;the average value of background noise level (BNL) were 78 .92 ± 10 .56 and 77 .13 ± 7 .91 dB SPL respectivoly .The difference of MCL ,BNL ,ANL in these two groups were not statistically significant (P>0 .05) .Test method 1 re-sulted in great individual differences in ANL ,which it ranged from -6 .4 to 20 .12 dB S/N .While ANL from test method 2 ranged from 2 .50~20 .12 dB S/N .Conclusion Different test instruction do not correlated to the results of acceptable noise level ,testers can translate the English instruction by different ways so that it is convenient to the application and clinical research of ANL test .