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The aim of this study is to explore the genotype and hearing phenotype of deaf infants with mutation of gene. Subjects were 121 infants with gene mutations who were treated in the Children's Hearing Diagnosis Center of Beijing Tongren hospital. All subjects were accepted to undertake the universal newborns hearing screening（UNHS） and series of objective audiometry, including auditory brainstem response, distortion product otoacoustic emission, auditory steady-state response and other audiological tests. All subjects were screened for nine pathogenic variants in four genes or all exons of the gene, and then were diagnosed as infants with gene mutations. Initially, analyzing their genotypes and hearing phenotypes generally. Then, the subjects were divided into two groups according to the genotypes: T/T group（truncated/truncated mutations, 89 cases） and T/NT group（truncated/non-truncated mutations, 32 cases）. Chi-square test was used to analyze the results of UNHS, hearing degree, audiogram patterns and symmetry/asymmetry of binaural hearing phenotype. Eventually, analyzing the results of UNHS. The most common truncated mutation was c.235delC（64.88%, 157/242） and the most common non-truncated mutation was c.109G>A（11.16%, 27/242）. The homozygous mutation of c.235delC/c.235delC was the dominant in T/T group（38.84%, 47/121）, and the compound heterozygous mutation of c.235delC/c.109G>A was the dominant in T/NT group（18.18%, 22/121）. 81.82%（99/121） of subjects failed in UNHS, including 74.38%（90/121） with bilateral reference, 7.44%（9/121） with a single pass. The refer rate of UNHS of group T/T and T/NT were 86.52%（77/89） and 68.75%, respectively. There was a statistically significant difference between the two groups（0.05）. In this study, c.235delC/c.235delC homozygous mutation was dominant in T/T group and c.235delC/c.109G>A heterozygous mutation was dominant in T/NT Group. The hearing phenotypes in T/T group were mostly bilateral asymmetric severe hearing loss, and those in T/NT Group were bilateral symmetric mild to moderate hearing loss, special attention should be paid to the audiological characteristics of different genotypes.
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Objective@#The aim of this study is to explore the genotype and hearing phenotype of deaf infants with mutation of GJB2 gene.@*Method@#Subjects were 121 infants with GJB2 gene mutations who were treated in the Children's Hearing Diagnosis Center of Beijing Tongren hospital. All subjects were accepted to undertake the universal newborns hearing screening（UNHS） and series of objective audiometry, including auditory brainstem response, distortion product otoacoustic emission, auditory steady-state response and other audiological tests. All subjects were screened for nine pathogenic variants in four genes or all exons of the GJB2 gene, and then were diagnosed as infants with GJB2 gene mutations. Initially, analyzing their genotypes and hearing phenotypes generally. Then, the subjects were divided into two groups according to the genotypes: T/T group（truncated/truncated mutations, 89 cases） and T/NT group（truncated/non-truncated mutations, 32 cases）. Chi-square test was used to analyze the results of UNHS, hearing degree, audiogram patterns and symmetry/asymmetry of binaural hearing phenotype. Eventually, analyzing the results of UNHS. @*Result@#The most common truncated mutation was c.235delC（64.88%, 157/242） and the most common non-truncated mutation was c.109G>A（11.16%, 27/242）. The homozygous mutation of c.235delC/c.235delC was the dominant in T/T group（38.84%, 47/121）, and the compound heterozygous mutation of c.235delC/c.109G>A was the dominant in T/NT group（18.18%, 22/121）. 81.82%（99/121） of subjects failed in UNHS, including 74.38%（90/121） with bilateral reference, 7.44%（9/121） with a single pass. The refer rate of UNHS of group T/T and T/NT were 86.52%（77/89） and 68.75%, respectively. There was a statistically significant difference between the two groups（P<0.05）. 85.95%（104/121） of subjects were diagnosed as hearing loss and 14.05%（17/121） of subjects were diagnosed as normal hearing. The degree of hearing loss: profound, severe, moderate and mild were 31.40%（38/121）, 19.01%（23/121）, 24.79%（30/121） and 10.74%（13/121）, respectively. There was no subjects with normal hearing in T/T group and individuals with severe and profound hearing loss accounted for the highest proportion（65.17%, 58/89）, while in T/NT group, normal hearing accounted for 53.13%（17/32） and mild and moderate hearing loss accounted for the highest proportion（37.5%, 12/32）. There was statistically significant difference between the two groups（P<0.05）. Of 104 patients（208 ears） with hearing loss, the audiogram patterns: flat, descending, ascending, residual, Valley and other types were 49.03%（102/208）, 12.02%（25/208）, 8.65%（18/208）, 7.69%（16/204）, 3.36%（7/204） and 19.23%（40/204）, respectively. The two most common types in T/T group were flat（47.19%, 84/178） and other types（20.22%, 36/178）, while in T/NT group were flat（60.00%, 18/30） and ascending（20.00%, 6/30）. There was statistically significant difference between the two groups（P<0.05）. There were 50 cases（48.07%） with symmetrical hearing phenotype and 54 cases（51.93%） with asymmetrical hearing phenotype. Asymmetry was predominant in T/T group（53.93%, 48/89）, and symmetry was predominant in T/NT group（60.00%, 9/15）. There was no statistically significant difference between the two groups（P>0.05）. @*Conclusion@#In this study, c.235delC/c.235delC homozygous mutation was dominant in T/T group and c.235delC/c.109G>A heterozygous mutation was dominant in T/NT Group. The hearing phenotypes in T/T group were mostly bilateral asymmetric severe hearing loss, and those in T/NT Group were bilateral symmetric mild to moderate hearing loss, special attention should be paid to the audiological characteristics of different genotypes.
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Objective To evaluate the value of bedside lung ultrasound for diagnosis of acute re-spiratory distress syndrome ( ARDS) and for assessment of the severity. Methods Fifty patients of both se-xes suspected of having ARDS ( oxygenation index＜300 mmHg) and required lung CT tests and Pulse Indi-cator Continuous Cardiac Output because of their condition, aged 18-80 yr, were selected. At 24 h after entering ICU, chest CT, lung ultrasound and arterial blood gas analysis were performed to record Extravas-cular Lung Water Index ( EVLWI) and the number of B lines, and lung injury ultrasound score and oxygen-ation index were calculated. The patients diagnosed with ARDS by chest CT and lung ultrasound were divid-ed into 3 groups: mild group ( 200 mmHg＜oxygenation index≤300 mmHg) , moderate group ( 100 mmHg＜oxygenation index≤200 mmHg) and severe group ( oxygenation index≤100 mmHg) . Kappa consistency a-nalysis was used to assess the consistency between lung ultrasound and chest CT in diagnosis of ARDS. The receiver operating characteristic curves of th number of B lines, EVLWI and lung injury ultrasound score in assessing the severity of ARDS were drawn, and the area under the curve and 95％ confidence interval ( CI) , critical value, sensitivity and specificity were calculated. Results Forty-six patients were diag-nosed as having ARDS by both chest CT and lung ultrasound. There was good consistency ( Kappa value 0. 648, P＜0. 01) between chest CT and lung ultrasound in diagnosis of ARDS. There was good consistency ( Kappa value 0. 788, P＜0. 01) between lung ultrasound and chest CT in diagnosis of pulmonary consolida-tion. Lung ultrasound and chest CT were in good agreement ( Kappa value 0. 825, P＜0. 01) with each oth-er in diagnosis of pulmonary consolidation in the posterior region. Compared with mild group, the lung inju-ry ultrasound score was significantly increased, and the number of B lines was increased in moderate group, and the lung injury ultrasound score and EVLWI were significantly increased, and the number of B lines was increased in severe group ( P＜0. 05) . Compared with moderate group, the lung injury ultrasound score and EVLWI were significantly increased, and the number of B lines was increased in severe group ( P＜0. 05) . The area under the curve ( 95％ CI ) of the number of B lines in diagnosing severe ARDS was 0. 915 ( 0. 905-0. 935 ) , and the critical value, sensitivity and specificity were 15. 5, 78. 9％ and 85. 2％, respectively. The area under the curve ( 95％ CI) of lung injury ultrasound score in diagnosing severe ARDS was 0. 856 (0. 833-0. 878), and the critical value, sensitivity and specificity were 25. 5, 73. 7％ and 82. 5％, respectively. The area under the curve (95％ CI) of EVLWI in diagnosing severe ARDS was 0. 907 ( 0. 888-0. 933) , and the critical value, sensitivity and specificity were 15. 5, 73. 7％and 92. 6％, respectively. Conclusion Lung ultrasound can be used for diagnosis of ARDS and for evalu-ation of the severity of ARDS.
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Objective To evaluate the effect of cardiopulmonary ultrasound in guiding volume ther-apy in the patients with sepsis-induced myocardial injury. Methods Thirty-eight patients of both sexes with septic myocardial injury, aged 28-64 yr, weighing 60-90 kg, received anti-infection, respiratory and circulatory comprehensive treatment. The patients were divided into group Ⅰ ( n=19) and group Ⅱ(n=19) by using a random number table method. Central venous pressure (CVP) was used to guide vol-ume therapy, and fluid replacement was carried out using the CVP 2-5 principle in groupⅠ. Cardiopulmo-nary ultrasound was used to guide volume therapy in group Ⅱ. Blood samples were taken before volume therapy and on 1, 3 and 5 days after volume therapy to determine the concentrations of N-terminal pro-B-type natriuretic peptide, cardiac troponin I and creatine kinase isoenzyme MB in serum. The CVP, positive fluid balance, lactic acid, central venous oxygen saturation and urine volume were recorded at 6, 24, 48 and 72 h after volume therapy. Left ventricular ejection fraction was recorded at 1, 3 and 5 days after vol-ume therapy. The length of intensive care unit stay and 28-day fatality were recorded. Results Compared with groupⅠ, the CVP and fluid positive balance were significantly decreased at each time point after vol-ume therapy, the concentration of serum N-terminal pro-B-type natriuretic peptide was decreased at 5 days after volume therapy ( P<0. 05) , and no significant difference was found in concentrations of cardiac tropo-nin I and creatine kinase isoenzyme MB in serum, lactic acid, central venous oxygen saturation and urine volume, left ventricular ejection fraction, length of intensive care unit stay or 28-day fatality rate at each time point in groupⅡ( P>0. 05) . Conclusion Cardiopulmonary ultrasound can reduce the volume of liq-uid infused, avoid fluid overload and avoid accentuating myocardial injury when used to guide volume thera-py in the patients with sepsis-induced myocardial injury.
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Objective To investigate the role of protein kinase C (PKC) in reduction of hepatic ischemiareperfusion injury by CO2 preconditioning in rats.Methods Forty-eight male Wistar rats,aged 8-10 weeks,weighing 230-270 g,were randomly divided into 3 groups (n =16 each):hepatic ischemia-reperfusion injury group (group HIRI),CO2 preconditioning group (group P),and c helerythrine (CHE,a specific inhibitor of PKC) group (group CHE).The portal vein,hepatic artery and bile duct of the left lateral and median lobes of the liver were occluded for 1 h,followed by 4 h reperfusion in anesthetized rats.The rats inhaled 50％ O2-50％ N2 for 1 h during mechanical ventilation in group HIRI.In P group,the rats inhaled 50％ O2-45％ N2-5％ CO2 for 1 h during mechanical ventilation and then inhaled 50％ O2-50％ N2 and the hepatic ischemia-reperfusion injury was performed 15 min later.In group CHE,CHE 5 mg/kg was injected intraperitoneally at 10 min before mechanical ventilation,and the other procedures were similar to those previously described in P group.Before mechanical ventilation,immediately before ischemia,and at 0,1,2,3 and 4 h of reperfusion,mean arterial pressure (MAP) was recorded and arterial blood samples were obtained for blood gas analysis.At 4 h of reperfusion,the serum aspartate amino transferase (AST) and alanine amino-transferase (ALT) activities and tumor necrosis factor-α (TNF-α) concentration (by ELISA) were determined and hepatic specimens were obtained for detection of malondialdehyde (MDA) content and superoxide dismutase (SOD) activity (by spectrophotometry),and the expression of activated caspase-3 (by immuno-histochemistry) and PKC (by Western blot) in hepatic tissues.Apoptosis index was calculated by using TUNEL.Results Compared with group HIRI,MAP,PaO2 and PaCO2were significantly increased immediately before ischemia and during reperfusion in group P,MAP and PaCO2 were increased during reperfusion and PaO2 was increased immediately before ischemia and during reperfusion in group CHE,the serum ALT and AST activities,TNF-α concentrations,MDA content and apoptosis index were decreased,and the expression of activated caspase-3 was down-regulated in P and CHE groups,and the SOD activity was increased,and the expression of PKC was up-regulated in group P (P ＜ 0.05 or 0.01),and no significant changes were found in the SOD activity and PKC expression in CHE group (P ＞ 0.05).Compared with group P,MAP was significantly increased immediately after onset of reperfusion,while decreased at 1-4 h of reperfusion,PaO2 was decreased immediately before ischemia and during reperfusion,PaCO2 was decreased at 3 h of reperfusion,the serum ALT and AST activities,TNF-α concentrations,MDA content and apoptosis index were increased,and the expression of activated caspase-3 was up-regulated,and the expression of PKC was downregulated in group CHE (P ＜ 0.05).Conclusion PKC is involved in reduction of hepatic ischemia-reperfusion injury by CO2 preconditioning in rats.
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Objective To investigate the effects of dextran sulfate on lung ischemia-reperfusion injury after lung transplantation in rats.Method A total of 32 male Wistar rats were subjected to unilateral left lung orthotopic transplantation.They were randomly divided two groups (n =16 each):DXS group [DXS (10 mg/kg) was given prior to the reperfusion],and the control group (the same volume of normal saline was given).After animals were sacrificed,the lung graft was harvested 2 h after reperfusion.Oxygenation indexes,wet/dry ratio (W/D),myeloperoxidase (MPO) activity,malondialdehyde (MDA) and endothelin 1 (ET-1) in the transplanted lung,and tumor necrosis factor a (TNF-α) and interleukin 8 (IL-8) in serum were measured.The lung injury scores were evaluated and complement deposition was observed.Result After 2-h reperfusion,compared to the control group,oxygenation indexes were improved significantly in DXS group (P＜0.05),but there were no significant differences in W/D between two groups.In DXS group,the activity of MPO was significantly reduced,and the contents of MDA and ET-1 in the lung tissue were significantly reduced as compared with the control group.DXS reduced the level of TNF-α and IL-8 markedly in serum (P ＜0.05).There was no significant difference in lung injury score between two groups (4.53 ± 0.46 vs.5.28 ±0.49,P＞0.05).Compared to the control group,DXS reduced the deposition of C3c (0.8 ±0.2vs1.5±0.3) andC6 (1.2±0.4vs.2.4±0.5) (P＜0.05).Conclusion Administration of DXS attenuated ischemia-reperfusion injury after lung transplantation by inhibiting complement deposition,and improved the oxygenation of the transplanted lung.This protection was associated with inhibition of inflammation and oxidation and endothelial cytoprotection.