OBJECTIVE To investigate the genetic causes of deaf patients in a special educational school of Chifeng city, Inner Mongolia by SLC26A4 whole gene sequencing. This study focused on analyzing mutations of coding sequence of SLC26A4 gene and their relevant phenotype. METHODS DNA were extracted from peripheral blood of 134 deaf patients of Chifeng special educational school and 100 normal hearing controls in Northern China. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. All individuals found with SLC26A4 mutation were given temporal bone CT scan, and those with confirmed enlarged vestibular aqueduct and/or other malformation of inner ear were then given further ultrasound scan of thyroid and thyroid hormone assays. RESULTS The sequencing results revealed 32 cases carried SLC26A4 mutation. Twenty-nine cases underwent temporal bone CT scan. Twentycases were confirmed to have malformation of inner ear by CT scan (eighteen were EVA, one was EVA and other inner ear malformation and one was Mondini Syndrome). The shape and function of thyroid were confirmed to be normal by ultrasound scan of thyroid and thyroid hormone assays in nineteen of these 20 patients except one who had cystoid change in the right side of thyroid. Twelve types of novel variants of SLC26A4 gene were found. CONCLUSION Byscreening SLC26A4 gene coupled with temporal bone CT scan ,we could determine genetic cause related to this gene up to 14.93 % of deaf patients in special educational school of Chifeng city. SLC26A4 is another common gene besides GJB2 that cause deafness in this area. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population.

Objective To compare the effect of continuous positive airway pressure (CPAP)and bilevel positive airway pressure(BiPAP)on the cardiac structure and function of patients with obstructive sleep apnea and hypopnea syndrome(OSAHS).Methods 100 patients with OSAHS were selected as the research subjects.The patients were randomly divided into two groups by digital table method,CPAP group had 50 cases,adopted the CPAP ventilation mode,BiPAP group had 50 cases,adopted the BiPAP ventilation mode.The heart rate,blood pressure, blood brain natriuretic peptide(BNP),nitric oxide(NO),endothelin -1 protease,matrix metalloprotein 9(MMP -9), C -reactive protein (CRP) and polysomnography (PSG) related indicators,cardiac structure and function and endothelial function changes before and after treatment were observed in the two groups,compared the clinical effect of the two modes.Results Before treatment,in both groups,there were no statistical differences in blood pressure,heart rate,BNP,NO,endothelin -1,MMP -9,CRP,PSG related indicators,cardiac structure and function,endothelial function.After six months of noninvasive ventilator treatment,results of the heart rate,systolic pressure,diastolic blood pressure,blood oxygen saturation,oxygen partial pressure,the BNP,endothelin -1,NO,MMP -9,CRP,body mass index,the Epworth sleepiness scale(ESS),Apnea hypoventilation index(AHI),oxygen and lowest at night,aortic di-ameter(AO),left ventricular inner diameter (LA),right ventricular(RV)inside diameter,left ventricular ejection fraction(LVEF),pulmonary artery systolic pressure(PASP)of the CPAP group were (79.83 ±11.47)times/min, (114.06 ±11.45)mmHg,(72.44 ±7.38)mmHg,(97.6 ±1.45)%,(93.17 ±1.86)mmHg,(110.78 ±38.32)ng/L, (17.58 ±2.07)ng/L,(8.55 ±0.55)μmol/L,(372.73 ±189.00)μg/L,(3.34 ±2.29)mg/L,(23.87 ±1.59), (0.98 ±0.70),(0.65 ±0.30),(94.04 ±1.62)%,(31.52 ±2.17 )mm,(31.19 ±1.09 )mm,(20.86 ± 1.69)mm,(61.13 ±5.02)%,(20.74 ±5.49)mmHg.which of the BiPAP group were (80.96 ±8.56)times/min, (114.58 ±9.34)mmHg,(71.67 ±8.57)mmHg,(96.96 ±1.43)%,(94.52 ±1.66)mmHg,(87.63 ±28.33)ng/L, (17.76 ±2.20)ng/L,(8.54 ±0.52)μmol/L,(359.63 ±268.95)μg/L,(4.96 ±2.00)mg/L,(24.15 ±1.65), (0.85 ±0.75 ),(0.58 ±0.19 ),(94.50 ±1.18)%,(31.73 ±1.57 )mm,(31.97 ±1.12)mm,(21.58 ± 2.43)mm,(62.24 ±5.79)%,(21.45 ±3.76)mmHg.In the oxygen partial pressure,the BNP,MMP -9,CRP,ESS score,AHI,LA,LVEF and other indicators,BiPAP mode were better than CPAP mode(t =2.13,4.32,2.13,4.32, 1.39,4.93,2.58,4.36,all P <0.05 ).Conclusion BiPAP mode and CPAP mode can improve cardiovascular function in patients with OSAHS,improve the symptoms of low ventilation,reduce obesity,but in terms of reducing cardiac load,improve blood vessel function,BiPAP mode is better than CPAP.