AIM:To investigate the foveal pit morphology changes in unaffected carriers and affected Leber’s hereditary optic neuropathy(LHON)patients with the G11778 A mutation from one family.METHODS:This study was a prospecti...AIM:To investigate the foveal pit morphology changes in unaffected carriers and affected Leber’s hereditary optic neuropathy(LHON)patients with the G11778 A mutation from one family.METHODS:This study was a prospective cross-sectional study.Both eyes from 16 family members(age from 9 to 47 y)with the G11778 A mutation were analyzed and compared with 1 eye from 20 normal control subjects.Eleven family members with the G11778 A mutation but without optic neuropathy were classified as unaffected carriers(n=22 eyes).Five family members(n=10 eyes)expressed the LHON phenotype and were classified as affected patients.Retinal images of all the subjects were taken by optical coherence tomography(OCT),and an automatic algorithm was used to segment the retina to eight layers.Horizontal and vertical OCT images centered on the fovea were used to measure intra-retinal layer thicknesses and foveal morphometry.RESULTS:Thicker foveal thickness,thinner foveal pit depth,and flatter foveal slopes were observed in unaffected carriers and affected LHON patients(all P<0.001).Further,the slopes of all four sectors in the LHON were flatter than those in the unaffected carriers(all P<0.001).Compared with the control group,affected LHON patients had a thinner retinal nerve fiber layer(RNFL),ganglion cell layer and inner plexiform layer(GCL+IPL),and total retina(all P<0.01).The retinal nerve fiber layer(RNFL)of affected patients was 38.0%thinner than that of controls while the GCL+IPL was 40.1%thinner.CONCLUSION:The foveal pit morphology shows changes in both unaffected carriers and affects patients.RNFL and GCL+IPL are thinner in affected LHON patients but not in unaffected carriers.展开更多
A contrast study on the effects of manual acupuncture and electroacupuncture wasconducted in 60 cases of chronic hepatitis B carriers.The results demonstrated that theimmunological functions,both cellular and humoral,...A contrast study on the effects of manual acupuncture and electroacupuncture wasconducted in 60 cases of chronic hepatitis B carriers.The results demonstrated that theimmunological functions,both cellular and humoral,were markedly regulated asevidenced by the negative turnover rates of HBsAg,HBeAg,anti-HBc and HBcAg,as wellas the positive turnover rate of anti-HBe.展开更多
Multi-stream carrier aggregation is a key technology to expand bandwidth and improve the throughput of the fifth-generation wireless communication systems.However,due to the diversified propagation properties of diffe...Multi-stream carrier aggregation is a key technology to expand bandwidth and improve the throughput of the fifth-generation wireless communication systems.However,due to the diversified propagation properties of different frequency bands,the traffic migration task is much more challenging,especially in hybrid sub-6 GHz and millimeter wave bands scenario.Existing schemes either neglected to consider the transmission rate difference between multistream carrier,or only consider simple low mobility scenario.In this paper,we propose a low-complexity traffic splitting algorithm based on fuzzy proportional integral derivative control mechanism.The proposed algorithm only relies on the local radio link control buffer information of sub-6 GHz and mmWave bands,while frequent feedback from user equipment(UE)side is minimized.As shown in the numerical examples,the proposed traffic splitting mechanism can achieve more than 90%link resource utilization ratio for different UE transmission requirements with different mobilities,which corresponds to 10%improvement if compared with conventional baselines.展开更多
目的:检测先天性双侧输精管缺如(congenital bilateral absence of the vas deferens,CBAVD)患者中囊性纤维化跨膜转导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因和CBAVD易感基因的突变情况,探讨它们与CB...目的:检测先天性双侧输精管缺如(congenital bilateral absence of the vas deferens,CBAVD)患者中囊性纤维化跨膜转导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因和CBAVD易感基因的突变情况,探讨它们与CBAVD发病风险的相关性。方法:对13例诊断为孤立发生的CBAVD患者的致病基因CFTR及易感基因黏附型G蛋白偶联受体G2(adhesion G protein-coupled receptor G2,ADGRG2)、上皮细胞钠离子通道β亚单位(sodium channel epithelial 1 subunit beta,SCNN1B)和碳酸酐酶12(carbonic anhydrase,CA12)和溶质载体家族9成员3(solute carrier family 9 member A3,SLC9A3)行全外显子测序及Sanger测序验证,针对CFTR基因多态性位点、内含子及侧翼序列行聚合酶链式反应(polymerase chain reaction,PCR)扩增后用Sanger测序,并运用生物信息学方法对CBAVD易感基因新发突变进行保守性分析和有害性预测。对13例CBAVD患者中1例患者的家系进行遗传学分析,评估子代遗传风险。结果:外显子测序发现13例CBAVD患者中,只有6例患者检测到CFTR基因外显子突变,有6种错义突变:c.2684G>A(p.Ser895Asn)、c.4056G>C(p.Gln1352His)、c.2812G>T(p.Val938Leu)、c.3068T>G(p.Ile1023Arg)、c.374T>C(p.Ile125Thr)、c.1666A>G(p.Ile556Val),1种无义突变:c.1657C>T(p.Arg553Ter),这6例患者中有2例患者同时还存在CFTR的纯合p.V470位点,另外7例患者未检测出CFTR基因外显子区域的突变。13例CBAVD患者中,3例患者携带纯合p.V470的多态性位点,4例患者携带5T等位基因,2例患者携带TG13等位基因,10例患者携带c.-966T>G位点。4例CBAVD患者同时携带以上CFTR基因突变位点中的2~3个位点。13例患者中CBAVD易感基因突变情况:1种ADGRG2错义突变c.2312A>G(p.Asn771Ser),2种SLC9A3错义突变c.2395T>C(p.Cys799Arg)、c.493G>A(p.Val165Ile),1种SCNN1B错义突变c.1514G>A(p.Arg505His)和1种CA12错义突变c.1061C>T(p.Ala354Val),其中,SLC9A3基因的c.493G>A(p.Val165Ile)突变位点是首次在CBAVD患者中被发现,以上5种突变位点在gnomAD数据库中的人群变异频率极低,属于罕见突变,用Mutation Taster和Polyphen-2软件预测显示SLC9A3基因的c.493G>A(p.Val165Ile)位点和SCNN1B基因的c.1514G>A(p.Arg505His)位点的有害性等级为致病突变。1例家系遗传分析发现,先证者的c.1657C>T(p.Arg553Ter)突变为新生突变,先证者父亲、母亲均未携带该突变,先证者及其配偶通过辅助生殖技术孕育1女婴,该女婴遗传了先证者的致病性突变c.1657C>T(p.Arg553Ter)。结论:CFTR基因突变仍然是中国CBAVD患者的主要致病原因,但突变的分布与频率与国内外其他研究的数据存在一定差异,需要进一步扩充中国CBAVD患者的CFTR突变谱;ADGRG2、SLC9A3、SCNN1B和CA12易感基因可能解释部分无CFTR突变的CBAVD病例;CBAVD患者多无特殊临床表现,建议临床医生确诊前对患者行进一步的体格检查,并结合其阴囊超声或经直肠超声检查;建议将CFTR基因突变检测应用于辅助生殖前的遗传学筛查,降低子代罹患CBAVD及囊性纤维化的风险。展开更多
基金Supported by Wenzhou Technology Program(No.Y20160148).
文摘AIM:To investigate the foveal pit morphology changes in unaffected carriers and affected Leber’s hereditary optic neuropathy(LHON)patients with the G11778 A mutation from one family.METHODS:This study was a prospective cross-sectional study.Both eyes from 16 family members(age from 9 to 47 y)with the G11778 A mutation were analyzed and compared with 1 eye from 20 normal control subjects.Eleven family members with the G11778 A mutation but without optic neuropathy were classified as unaffected carriers(n=22 eyes).Five family members(n=10 eyes)expressed the LHON phenotype and were classified as affected patients.Retinal images of all the subjects were taken by optical coherence tomography(OCT),and an automatic algorithm was used to segment the retina to eight layers.Horizontal and vertical OCT images centered on the fovea were used to measure intra-retinal layer thicknesses and foveal morphometry.RESULTS:Thicker foveal thickness,thinner foveal pit depth,and flatter foveal slopes were observed in unaffected carriers and affected LHON patients(all P<0.001).Further,the slopes of all four sectors in the LHON were flatter than those in the unaffected carriers(all P<0.001).Compared with the control group,affected LHON patients had a thinner retinal nerve fiber layer(RNFL),ganglion cell layer and inner plexiform layer(GCL+IPL),and total retina(all P<0.01).The retinal nerve fiber layer(RNFL)of affected patients was 38.0%thinner than that of controls while the GCL+IPL was 40.1%thinner.CONCLUSION:The foveal pit morphology shows changes in both unaffected carriers and affects patients.RNFL and GCL+IPL are thinner in affected LHON patients but not in unaffected carriers.
文摘A contrast study on the effects of manual acupuncture and electroacupuncture wasconducted in 60 cases of chronic hepatitis B carriers.The results demonstrated that theimmunological functions,both cellular and humoral,were markedly regulated asevidenced by the negative turnover rates of HBsAg,HBeAg,anti-HBc and HBcAg,as wellas the positive turnover rate of anti-HBe.
基金supported by the National Natural Science Foundation of China (NSFC) under Grants 62071284, 61871262, 61901251 and 61904101the National Key Research and Development Program of China under Grants 2019YFE0196600+2 种基金the Innovation Program of Shanghai Municipal Science and Technology Commission under Grant 20JC1416400Pudong New Area Science & Technology Development Fundresearch funds from Shanghai Institute for Advanced Communication and Data Science (SICS)
文摘Multi-stream carrier aggregation is a key technology to expand bandwidth and improve the throughput of the fifth-generation wireless communication systems.However,due to the diversified propagation properties of different frequency bands,the traffic migration task is much more challenging,especially in hybrid sub-6 GHz and millimeter wave bands scenario.Existing schemes either neglected to consider the transmission rate difference between multistream carrier,or only consider simple low mobility scenario.In this paper,we propose a low-complexity traffic splitting algorithm based on fuzzy proportional integral derivative control mechanism.The proposed algorithm only relies on the local radio link control buffer information of sub-6 GHz and mmWave bands,while frequent feedback from user equipment(UE)side is minimized.As shown in the numerical examples,the proposed traffic splitting mechanism can achieve more than 90%link resource utilization ratio for different UE transmission requirements with different mobilities,which corresponds to 10%improvement if compared with conventional baselines.
文摘目的:检测先天性双侧输精管缺如(congenital bilateral absence of the vas deferens,CBAVD)患者中囊性纤维化跨膜转导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)基因和CBAVD易感基因的突变情况,探讨它们与CBAVD发病风险的相关性。方法:对13例诊断为孤立发生的CBAVD患者的致病基因CFTR及易感基因黏附型G蛋白偶联受体G2(adhesion G protein-coupled receptor G2,ADGRG2)、上皮细胞钠离子通道β亚单位(sodium channel epithelial 1 subunit beta,SCNN1B)和碳酸酐酶12(carbonic anhydrase,CA12)和溶质载体家族9成员3(solute carrier family 9 member A3,SLC9A3)行全外显子测序及Sanger测序验证,针对CFTR基因多态性位点、内含子及侧翼序列行聚合酶链式反应(polymerase chain reaction,PCR)扩增后用Sanger测序,并运用生物信息学方法对CBAVD易感基因新发突变进行保守性分析和有害性预测。对13例CBAVD患者中1例患者的家系进行遗传学分析,评估子代遗传风险。结果:外显子测序发现13例CBAVD患者中,只有6例患者检测到CFTR基因外显子突变,有6种错义突变:c.2684G>A(p.Ser895Asn)、c.4056G>C(p.Gln1352His)、c.2812G>T(p.Val938Leu)、c.3068T>G(p.Ile1023Arg)、c.374T>C(p.Ile125Thr)、c.1666A>G(p.Ile556Val),1种无义突变:c.1657C>T(p.Arg553Ter),这6例患者中有2例患者同时还存在CFTR的纯合p.V470位点,另外7例患者未检测出CFTR基因外显子区域的突变。13例CBAVD患者中,3例患者携带纯合p.V470的多态性位点,4例患者携带5T等位基因,2例患者携带TG13等位基因,10例患者携带c.-966T>G位点。4例CBAVD患者同时携带以上CFTR基因突变位点中的2~3个位点。13例患者中CBAVD易感基因突变情况:1种ADGRG2错义突变c.2312A>G(p.Asn771Ser),2种SLC9A3错义突变c.2395T>C(p.Cys799Arg)、c.493G>A(p.Val165Ile),1种SCNN1B错义突变c.1514G>A(p.Arg505His)和1种CA12错义突变c.1061C>T(p.Ala354Val),其中,SLC9A3基因的c.493G>A(p.Val165Ile)突变位点是首次在CBAVD患者中被发现,以上5种突变位点在gnomAD数据库中的人群变异频率极低,属于罕见突变,用Mutation Taster和Polyphen-2软件预测显示SLC9A3基因的c.493G>A(p.Val165Ile)位点和SCNN1B基因的c.1514G>A(p.Arg505His)位点的有害性等级为致病突变。1例家系遗传分析发现,先证者的c.1657C>T(p.Arg553Ter)突变为新生突变,先证者父亲、母亲均未携带该突变,先证者及其配偶通过辅助生殖技术孕育1女婴,该女婴遗传了先证者的致病性突变c.1657C>T(p.Arg553Ter)。结论:CFTR基因突变仍然是中国CBAVD患者的主要致病原因,但突变的分布与频率与国内外其他研究的数据存在一定差异,需要进一步扩充中国CBAVD患者的CFTR突变谱;ADGRG2、SLC9A3、SCNN1B和CA12易感基因可能解释部分无CFTR突变的CBAVD病例;CBAVD患者多无特殊临床表现,建议临床医生确诊前对患者行进一步的体格检查,并结合其阴囊超声或经直肠超声检查;建议将CFTR基因突变检测应用于辅助生殖前的遗传学筛查,降低子代罹患CBAVD及囊性纤维化的风险。
