AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.MET...AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.METHODS:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result.Then we reviewed the characteristics of the patients reported with the same variant.RESULTS:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis fugax.The best corrected vision was 0.04 OD and 0.12 OS,respectively.The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye.Autofluorescence shows bilateral symmetrical hypo-autofluorescence.ERG revealed that the amplitudes of a-and b-wave were severely decreased.Multifocal ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was found.The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied.CONCLUSION:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported.The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.展开更多
Self-aligned Titanium Silicide (Salicide), Light-Doped Drain (LDD) technology was studied. Results show that, this technology suppresses effectivily short-channel effects. The sheet resistance of active region decreas...Self-aligned Titanium Silicide (Salicide), Light-Doped Drain (LDD) technology was studied. Results show that, this technology suppresses effectivily short-channel effects. The sheet resistance of active region decreases by four times. The sheet resistance of polysilicon gate region decreases by one order of magnitute. Using this technology, the speed of the 3 μm NMOS 12-bits multiplier increases by two times relative to conventional one.展开更多
Esophageal cancer is the eighth most common malignant tumor and the sixth leading cause of cancer-related death worldwide.Esophageal squamous cell carcinoma(ESCC)is the main histological type of esophageal cancer,and ...Esophageal cancer is the eighth most common malignant tumor and the sixth leading cause of cancer-related death worldwide.Esophageal squamous cell carcinoma(ESCC)is the main histological type of esophageal cancer,and accounts for 90%of all cancer cases.Despite the progress made in surgery,chemotherapy,and radiotherapy,the mortality rate from esophageal cancer remains high,and the overall 5-year survival rate is less than 20%,even in developed countries.The C-X-C motif chemokine ligand 12(CXCL12)is a member of the CXC chemokine subgroup,which is widely expressed in a variety of tissues and cells.CXCL12 participates in the regulation of many physiological and pathological processes by binding to its specific receptor,C-X-C motif chemokine receptor type 4(CXCR4),where it causes embryonic development,immune response,and angiogenesis.In addition,increasing evidence indicates that the CXCL12/CXCR4 axis plays an important role in the biological processes of tumor cells.Studies have shown that CXCL12 and its receptor,CXCR4,are highly expressed in ESCC.This abnormal expression contributes to tumor proliferation,lymph node and distant metastases,and worsening prognosis.At present,antagonists and imaging agents against CXCL12 or CXCR4 have been developed to interfere with the malignant process and monitor metastasis of tumors.This article summarizes the structure,function,and regulatory mechanism of CXCL12/CXCR4 and its role in the malignancy of ESCC.Current results from preclinical research targeting CXCL12/CXCR4 are also summarized to provide a reference for the clinical diagnosis and treatment of ESCC.展开更多
Glaciers were solid reservoirs and important water resources in western China,but they were retreating significantly in context of global warming.Laohugou Glacier No.12 was the largest valley glacier in Qilian Mountai...Glaciers were solid reservoirs and important water resources in western China,but they were retreating significantly in context of global warming.Laohugou Glacier No.12 was the largest valley glacier in Qilian Mountains.In this study,realtime kinematic(RTK)data,topographic map and World View-2 satellite imagery were used to measure changes in terminus,extent and volume of Laohugou Glacier No.12.Results showed that Laohugou Glacier No.12 was shrinking significantly since 1957.From1960 to 2015,the terminus reduction of Laohugou Glacier No.12 was 402.96 m(3.99%)in total,and glacier length decreased to 9.7 km from 10.1 km.Reduction of glacier area and volume were the most obvious.From 1957 to 2015,glacier area and volume decreased by 1.54 km^2(7.03%)and 0.1816 km^3,respectively.Reduction trend of terminus and area was slowing in 1950-1980s,even stable for a period in the mid-1980s,and then accelerated.Ice core analysis result and nearly meteorological station data shown an increasing trend of temperature in 1957-2015,it was a main reason of continuous retreating of Laohugou Glacier No.12.展开更多
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 describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.METHODS:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result.Then we reviewed the characteristics of the patients reported with the same variant.RESULTS:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis fugax.The best corrected vision was 0.04 OD and 0.12 OS,respectively.The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye.Autofluorescence shows bilateral symmetrical hypo-autofluorescence.ERG revealed that the amplitudes of a-and b-wave were severely decreased.Multifocal ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was found.The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied.CONCLUSION:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported.The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.
文摘Self-aligned Titanium Silicide (Salicide), Light-Doped Drain (LDD) technology was studied. Results show that, this technology suppresses effectivily short-channel effects. The sheet resistance of active region decreases by four times. The sheet resistance of polysilicon gate region decreases by one order of magnitute. Using this technology, the speed of the 3 μm NMOS 12-bits multiplier increases by two times relative to conventional one.
基金supported by the National Natural Science Foundation of China(Grant Nos.81772619 and 81702405)Wu Jieping Medical Foundation(Grant No.320.6750.17519)+1 种基金Bethune Charitable Foundation(Grant No.HZB-20190528-18)Tianjin Natural Science Foundation for Youth(Grant No.19JCQNJC10800)。
文摘Esophageal cancer is the eighth most common malignant tumor and the sixth leading cause of cancer-related death worldwide.Esophageal squamous cell carcinoma(ESCC)is the main histological type of esophageal cancer,and accounts for 90%of all cancer cases.Despite the progress made in surgery,chemotherapy,and radiotherapy,the mortality rate from esophageal cancer remains high,and the overall 5-year survival rate is less than 20%,even in developed countries.The C-X-C motif chemokine ligand 12(CXCL12)is a member of the CXC chemokine subgroup,which is widely expressed in a variety of tissues and cells.CXCL12 participates in the regulation of many physiological and pathological processes by binding to its specific receptor,C-X-C motif chemokine receptor type 4(CXCR4),where it causes embryonic development,immune response,and angiogenesis.In addition,increasing evidence indicates that the CXCL12/CXCR4 axis plays an important role in the biological processes of tumor cells.Studies have shown that CXCL12 and its receptor,CXCR4,are highly expressed in ESCC.This abnormal expression contributes to tumor proliferation,lymph node and distant metastases,and worsening prognosis.At present,antagonists and imaging agents against CXCL12 or CXCR4 have been developed to interfere with the malignant process and monitor metastasis of tumors.This article summarizes the structure,function,and regulatory mechanism of CXCL12/CXCR4 and its role in the malignancy of ESCC.Current results from preclinical research targeting CXCL12/CXCR4 are also summarized to provide a reference for the clinical diagnosis and treatment of ESCC.
基金supported by the National Foundational Scientific and Technological Work Programs of the Ministry of Science and Technology of China (grant No. 2013FY111400)the Project from the State Key Laboratory of Cryospheric Sciences (grant No. SKLCS-ZZ-2017)the National Key Geographic Conditions Monitoring: The Project of Basic National Geographical Conditions Monitoring in 2015
文摘Glaciers were solid reservoirs and important water resources in western China,but they were retreating significantly in context of global warming.Laohugou Glacier No.12 was the largest valley glacier in Qilian Mountains.In this study,realtime kinematic(RTK)data,topographic map and World View-2 satellite imagery were used to measure changes in terminus,extent and volume of Laohugou Glacier No.12.Results showed that Laohugou Glacier No.12 was shrinking significantly since 1957.From1960 to 2015,the terminus reduction of Laohugou Glacier No.12 was 402.96 m(3.99%)in total,and glacier length decreased to 9.7 km from 10.1 km.Reduction of glacier area and volume were the most obvious.From 1957 to 2015,glacier area and volume decreased by 1.54 km^2(7.03%)and 0.1816 km^3,respectively.Reduction trend of terminus and area was slowing in 1950-1980s,even stable for a period in the mid-1980s,and then accelerated.Ice core analysis result and nearly meteorological station data shown an increasing trend of temperature in 1957-2015,it was a main reason of continuous retreating of Laohugou Glacier No.12.
