BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultraso...BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultrasound-guided Lateral recess block(LRB)are limited,this is probably because there is no recognized standard method for ultrasound scanning.This study aimed to evaluate the effect of ultrasound-guided LRB in patients with lateral recess stenosis(LRS).CASE SUMMARY A 65-year-old patient complained of low back pain accompanied occasionally by pain and numbness in the left lower limb.Physical examination showed ten-derness on the spinous process and paraspinal muscles from L1 to S1,extensor hallucis longus and tibialis anterior weakness(muscle strength:4-),and a positive straight leg raising test in the left lower limb(60°).Magnetic resonance imaging showed L4–L5 disc degeneration with left LRS and nerve root entrapment.Subsequently,the patient was diagnosed with LRS.This patient was treated with a novel ultrasound-guided LRB approach.The patient’s symptoms significantly improved without any complications at 1 wk postoperatively and at the 3-month follow-up.CONCLUSION This is the first report on the LRS treatment with ultrasound-guided LRB from the contralateral spinous process along the inner side of the articular process by out-plane technique.Further studies are expected to investigate the efficacy and safety of ultrasound-guided LRB for patients with LRS.展开更多
Himalayan glaciers are shrinking rapidly,especially after 2000.Glacier shrinkage,however,shows a differential pattern in space and time,emphasizing the need to monitor and assess glacier changes at a larger scale.In t...Himalayan glaciers are shrinking rapidly,especially after 2000.Glacier shrinkage,however,shows a differential pattern in space and time,emphasizing the need to monitor and assess glacier changes at a larger scale.In this study,changes of 48 glaciers situated around the twin peaks of the Nun and Kun mountains in the northwestern Himalaya,hereafter referred to as Nun-Kun Group of Glaciers(NKGG),were investigated using Landsat satellite data during 2000-2020.Changes in glacier area,snout position,Equilibrium Line Altitude(ELA),surface thickness and glacier velocity were assessed using remote sensing data supplemented by field observations.The study revealed that the NKGG glaciers have experienced a recession of 4.5%±3.4%and their snouts have retreated at the rate of 6.4±1.6 m·a^(-1).Additionally,there was a 41%increase observed in the debris cover area during the observation period.Using the geodetic approach,an average glacier elevation change of-1.4±0.4 m·a^(-1)was observed between 2000 and 2012.The observed mass loss of the NKGG has resulted in the deceleration of glacier velocity from 27.0±3.7 m·a^(-1)in 2000 to 21.2±2.2 m·a^(-1)in 2020.The ELA has shifted upwards by 83.0±22 m during the period.Glacier morphological and topographic factors showed a strong influence on glacier recession.Furthermore,a higher recession of 12.9%±3.2%was observed in small glaciers,compared to 2.7%±3.1%in larger glaciers.The debris-covered glaciers showed lower shrinkage(2.8%±1.1%)compared to the clean glaciers(9.3%±5%).The glacier depletion recorded in the NKGG during the last two decades,if continued,would severely diminish glacial volume and capacity to store water,thus jeopardizing the sustainability of water resources in the basin.展开更多
AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 m...AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.展开更多
Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on ...Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.展开更多
The hydrological regime in wetlands plays an important role in the process of wintering waterbird metacommunity assemblage.However,increasing frequency of extreme climate and the intensification of human activities,su...The hydrological regime in wetlands plays an important role in the process of wintering waterbird metacommunity assemblage.However,increasing frequency of extreme climate and the intensification of human activities,such as the construction of sluices and dams,have resulted in frequently abnormal hydrological regime in the middle and lower Yangtze River floodplain.In recent years,earlier flood recession has become one of the main hydrological problems faced in the shallow lakes,having a great impact on wetland biodiversity.It is necessary to understand the impact of earlier flood recession on waterbirds,an indicator of wetland biodiversity,and the metacommunity concept is helpful to elucidate the underlying mechanism involved in the processes of assemblage by waterbird communities.In this study,we surveyed the wintering waterbirds at three sub-lakes of Caizi Lakes during 2019-2020 and 2020-2021 and compared the richness,abundance,alpha and beta diversity of waterbirds in and among local metacommunities under earlier flood recession and normal hydrological regime.The results showed that the earlier flood recession reduced the species richness in the early stage and abundance in the late stage,it also reduced the Shannon-Wiener index in the early stage and increased the dissimilarity between and within waterbird metacommunities in the late stage.The partition of beta diversity showed that the turnover component played a major role in the process of waterbird metacommunity assemblage.It was found that the earlier flood recession reduced the richness,abundance in different stages of flood recession,which also increased the turnover of waterbirds.Metacommunities with high habitat heterogeneity had better resistance to abnormal hydrological regime,which resulted in high dissimilarity between and within metacommunities.The results of this study provide important information for waterbird conservation and water level management at shallow lakes in the middle and lower Yangtze River floodplain.展开更多
BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebell...BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebellar ataxia,pyramidal signs,neurocognitive impairment,deep paresthesia,and cerebellar atrophy.CASE SUMMARY Here,we describe a 25-year-old female patient in China who presented with increasing difficulty walking,falling easily,shaking limbs,instability holding items,slurred speech,coughing when drinking,palpitations,and frequent hunger and overeating.Magnetic resonance imaging showed cerebellar atrophy.Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene:c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg.Considering the patient’s clinical presentation and genetic test results,we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency,which may lead to SCAR7.CONCLUSION We report the first case of SCAR7 from China.We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7,expanding the range of known disease-causing mutations for SCAR7.展开更多
目的:从临床指标方面系统评价并比较自体软组织替代材料与结缔组织移植物联合冠向复位瓣技术治疗天然牙牙龈退缩的疗效。方法:计算机检索PubMed、EMBASE、Web of Science、维普、万方、知网等数据库中关于自体软组织替代材料或结缔组织...目的:从临床指标方面系统评价并比较自体软组织替代材料与结缔组织移植物联合冠向复位瓣技术治疗天然牙牙龈退缩的疗效。方法:计算机检索PubMed、EMBASE、Web of Science、维普、万方、知网等数据库中关于自体软组织替代材料或结缔组织移植物(CTG)治疗牙龈退缩的随机对照试验,检索时限从2013年1月至2023年12月。结果:最终纳入14个随机对照研究,1117个牙龈退缩位点。Meta分析显示,术后6个月时,CTG与异种胶原基质(XCM)比较能更好地降低牙龈退缩深度,与富血小板纤维蛋白(PRF)、脱细胞真皮基质(ADM)比较无明显区别;CTG与PRF、ADM、XCM比较角化龈宽度增量更明显;根面覆盖率指标差异无统计学意义;PRF、XCM可以明显降低患者术后的疼痛感。结论:研究表明,自体软组织替代材料与CTG相比,对于治疗牙龈退缩的效果并没有显著差异,但是前者可以降低患者术后疼痛感。展开更多
基金Supported by the National Natural Science Foundation of China,No.82305380The Postdoctoral Research Program,West China Hospital,Sichuan University,No.2020HXBH018.
文摘BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultrasound-guided Lateral recess block(LRB)are limited,this is probably because there is no recognized standard method for ultrasound scanning.This study aimed to evaluate the effect of ultrasound-guided LRB in patients with lateral recess stenosis(LRS).CASE SUMMARY A 65-year-old patient complained of low back pain accompanied occasionally by pain and numbness in the left lower limb.Physical examination showed ten-derness on the spinous process and paraspinal muscles from L1 to S1,extensor hallucis longus and tibialis anterior weakness(muscle strength:4-),and a positive straight leg raising test in the left lower limb(60°).Magnetic resonance imaging showed L4–L5 disc degeneration with left LRS and nerve root entrapment.Subsequently,the patient was diagnosed with LRS.This patient was treated with a novel ultrasound-guided LRB approach.The patient’s symptoms significantly improved without any complications at 1 wk postoperatively and at the 3-month follow-up.CONCLUSION This is the first report on the LRS treatment with ultrasound-guided LRB from the contralateral spinous process along the inner side of the articular process by out-plane technique.Further studies are expected to investigate the efficacy and safety of ultrasound-guided LRB for patients with LRS.
基金as part of the Department of Science and Technology (DST), Government of India sponsored research projects titled “Centre of Excellence for Glaciological Research in Western Himalaya”the financial assistance received from the Department under the projects to conduct the research。
文摘Himalayan glaciers are shrinking rapidly,especially after 2000.Glacier shrinkage,however,shows a differential pattern in space and time,emphasizing the need to monitor and assess glacier changes at a larger scale.In this study,changes of 48 glaciers situated around the twin peaks of the Nun and Kun mountains in the northwestern Himalaya,hereafter referred to as Nun-Kun Group of Glaciers(NKGG),were investigated using Landsat satellite data during 2000-2020.Changes in glacier area,snout position,Equilibrium Line Altitude(ELA),surface thickness and glacier velocity were assessed using remote sensing data supplemented by field observations.The study revealed that the NKGG glaciers have experienced a recession of 4.5%±3.4%and their snouts have retreated at the rate of 6.4±1.6 m·a^(-1).Additionally,there was a 41%increase observed in the debris cover area during the observation period.Using the geodetic approach,an average glacier elevation change of-1.4±0.4 m·a^(-1)was observed between 2000 and 2012.The observed mass loss of the NKGG has resulted in the deceleration of glacier velocity from 27.0±3.7 m·a^(-1)in 2000 to 21.2±2.2 m·a^(-1)in 2020.The ELA has shifted upwards by 83.0±22 m during the period.Glacier morphological and topographic factors showed a strong influence on glacier recession.Furthermore,a higher recession of 12.9%±3.2%was observed in small glaciers,compared to 2.7%±3.1%in larger glaciers.The debris-covered glaciers showed lower shrinkage(2.8%±1.1%)compared to the clean glaciers(9.3%±5%).The glacier depletion recorded in the NKGG during the last two decades,if continued,would severely diminish glacial volume and capacity to store water,thus jeopardizing the sustainability of water resources in the basin.
基金Supported by Shenzhen Science and Technology Program,Shenzhen,China(No.JCYJ20200109145001814,No.SGDX20211123120001001)the National Natural Science Foundation of China(No.81970790)Sanming Project of Medicine in Shenzhen(No.SZSM202011015).
文摘AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.
文摘Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.
基金supported by the National Natural Science Foundation of China(32171530)the Scientific and Technology Project of the Anhui Provincial Group Limited for Yangtze-to-Huaihe Water Diversion(YJJH-ZT-ZX-20180404062)。
文摘The hydrological regime in wetlands plays an important role in the process of wintering waterbird metacommunity assemblage.However,increasing frequency of extreme climate and the intensification of human activities,such as the construction of sluices and dams,have resulted in frequently abnormal hydrological regime in the middle and lower Yangtze River floodplain.In recent years,earlier flood recession has become one of the main hydrological problems faced in the shallow lakes,having a great impact on wetland biodiversity.It is necessary to understand the impact of earlier flood recession on waterbirds,an indicator of wetland biodiversity,and the metacommunity concept is helpful to elucidate the underlying mechanism involved in the processes of assemblage by waterbird communities.In this study,we surveyed the wintering waterbirds at three sub-lakes of Caizi Lakes during 2019-2020 and 2020-2021 and compared the richness,abundance,alpha and beta diversity of waterbirds in and among local metacommunities under earlier flood recession and normal hydrological regime.The results showed that the earlier flood recession reduced the species richness in the early stage and abundance in the late stage,it also reduced the Shannon-Wiener index in the early stage and increased the dissimilarity between and within waterbird metacommunities in the late stage.The partition of beta diversity showed that the turnover component played a major role in the process of waterbird metacommunity assemblage.It was found that the earlier flood recession reduced the richness,abundance in different stages of flood recession,which also increased the turnover of waterbirds.Metacommunities with high habitat heterogeneity had better resistance to abnormal hydrological regime,which resulted in high dissimilarity between and within metacommunities.The results of this study provide important information for waterbird conservation and water level management at shallow lakes in the middle and lower Yangtze River floodplain.
基金Supported by Postdoctoral program of the Affiliated Hospital of Jining Medical University,No.JYFY303573Health Commission of Shandong Province,No.202006010928+1 种基金Academician Lin He New Medicine in Jining Medical University,No.JYHL2018FMS05Affiliated Hospital of Jining Medical University,No.2018-BS-004.
文摘BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebellar ataxia,pyramidal signs,neurocognitive impairment,deep paresthesia,and cerebellar atrophy.CASE SUMMARY Here,we describe a 25-year-old female patient in China who presented with increasing difficulty walking,falling easily,shaking limbs,instability holding items,slurred speech,coughing when drinking,palpitations,and frequent hunger and overeating.Magnetic resonance imaging showed cerebellar atrophy.Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene:c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg.Considering the patient’s clinical presentation and genetic test results,we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency,which may lead to SCAR7.CONCLUSION We report the first case of SCAR7 from China.We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7,expanding the range of known disease-causing mutations for SCAR7.
文摘目的:从临床指标方面系统评价并比较自体软组织替代材料与结缔组织移植物联合冠向复位瓣技术治疗天然牙牙龈退缩的疗效。方法:计算机检索PubMed、EMBASE、Web of Science、维普、万方、知网等数据库中关于自体软组织替代材料或结缔组织移植物(CTG)治疗牙龈退缩的随机对照试验,检索时限从2013年1月至2023年12月。结果:最终纳入14个随机对照研究,1117个牙龈退缩位点。Meta分析显示,术后6个月时,CTG与异种胶原基质(XCM)比较能更好地降低牙龈退缩深度,与富血小板纤维蛋白(PRF)、脱细胞真皮基质(ADM)比较无明显区别;CTG与PRF、ADM、XCM比较角化龈宽度增量更明显;根面覆盖率指标差异无统计学意义;PRF、XCM可以明显降低患者术后的疼痛感。结论:研究表明,自体软组织替代材料与CTG相比,对于治疗牙龈退缩的效果并没有显著差异,但是前者可以降低患者术后疼痛感。
