In the context of promoting green energy transition and addressing climate change globally,solar energy,as a clean and renewable energy source,has gradually become a hot topic for research.Solar streetlight systems re...In the context of promoting green energy transition and addressing climate change globally,solar energy,as a clean and renewable energy source,has gradually become a hot topic for research.Solar streetlight systems realize energy self-sufficiency and environment-friendly lighting by integrating photovoltaic power generation technology and efficient LED lighting technology.By comprehensively analyzing the current status of the application of solar streetlights at home and abroad,this paper discusses its technical advantages,market penetration,and challenges in its development.In terms of technical characteristics,this paper focuses on analyzing the key technologies such as energy conversion efficiency and intelligent control systems of solar streetlights.展开更多
BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare ...BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic heterogeneity.CASE SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its phenotypes.We summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and sister.The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period.Whole exon sequencing and whole genome low-depth sequencing(CNV-seq)were then performed.Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 region.Family analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the mother.CONCLUSION Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.展开更多
BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical ...BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related defects.CASE SUMMARY The patient was a girl aged 2 years and 10 mo.She was hospitalized due to walking disorder for>40 d.The clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid ptosis.Within 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she died.Changes were found in cranial imaging,including cerebellar edema accompanied by symmetrical myelopathy.Through whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733A>C(p.Lys245Gln,dbSNP:rs770023429)and novel variation c.370G>T(p.Gly124Cys)in the germline gene.The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.CONCLUSION This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China' Mainland.The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.展开更多
Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),the causative agent of COVID-19,encodes several accessory proteins that have been shown to play crucial roles in regulating the innate immune response.Howeve...Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),the causative agent of COVID-19,encodes several accessory proteins that have been shown to play crucial roles in regulating the innate immune response.However,their expressions in infected cells and immunogenicity in infected humans and mice are still not fully understood.This study utilized various techniques such as luciferase immunoprecipitation system(LIPS),immunofluorescence assay(IFA),and western blot(WB)to detect accessory protein-specific antibodies in sera of COVID-19 patients.Specific antibodies to proteins 3a,3b,7b,8 and 9c can be detected by LIPS,but only protein 3a antibody was detected by IFA or WB.Antibodies against proteins 3a and 7b were only detected in ICU patients,which may serve as a marker for predicting disease progression.Further,we investigated the expression of accessory proteins in SARS-CoV-2-infected cells and identified the expressions of proteins 3a,6,7a,8,and 9b.We also analyzed their ability to induce antibodies in immunized mice and found that only proteins 3a,6,7a,8,9b and 9c were able to induce measurable antibody productions,but these antibodies lacked neutralizing activities and did not protect mice from SARS-CoV-2 infection.Our findings validate the expression of SARS-CoV-2 accessory proteins and elucidate their humoral immune response,providing a basis for protein detection assays and their role in pathogenesis.展开更多
文摘In the context of promoting green energy transition and addressing climate change globally,solar energy,as a clean and renewable energy source,has gradually become a hot topic for research.Solar streetlight systems realize energy self-sufficiency and environment-friendly lighting by integrating photovoltaic power generation technology and efficient LED lighting technology.By comprehensively analyzing the current status of the application of solar streetlights at home and abroad,this paper discusses its technical advantages,market penetration,and challenges in its development.In terms of technical characteristics,this paper focuses on analyzing the key technologies such as energy conversion efficiency and intelligent control systems of solar streetlights.
文摘BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic heterogeneity.CASE SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its phenotypes.We summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and sister.The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period.Whole exon sequencing and whole genome low-depth sequencing(CNV-seq)were then performed.Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 region.Family analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the mother.CONCLUSION Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.
基金Supported by the Epilepsy Research Fund of Chinese Anti-Epilepsy Association,No.CU-A-2021-17Nanjing Municipal Health Bureau key project,No.ZKX21047the Postdoctoral Research Foundation of China,No.2020M671550。
文摘BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related defects.CASE SUMMARY The patient was a girl aged 2 years and 10 mo.She was hospitalized due to walking disorder for>40 d.The clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid ptosis.Within 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she died.Changes were found in cranial imaging,including cerebellar edema accompanied by symmetrical myelopathy.Through whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733A>C(p.Lys245Gln,dbSNP:rs770023429)and novel variation c.370G>T(p.Gly124Cys)in the germline gene.The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.CONCLUSION This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China' Mainland.The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.
基金supported by grants from the National Natural Science Foundation of China(82002127,81971500,82025001,82172240)National Key R&D Program of China(2021YFC2301700,2022YFC2604100)+1 种基金Guangdong Basic and Applied Basic Research Foundation(2022B1515020059,2021B1515130005)R&D Program of Guangzhou Laboratory(EKPG21-30-2).
文摘Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),the causative agent of COVID-19,encodes several accessory proteins that have been shown to play crucial roles in regulating the innate immune response.However,their expressions in infected cells and immunogenicity in infected humans and mice are still not fully understood.This study utilized various techniques such as luciferase immunoprecipitation system(LIPS),immunofluorescence assay(IFA),and western blot(WB)to detect accessory protein-specific antibodies in sera of COVID-19 patients.Specific antibodies to proteins 3a,3b,7b,8 and 9c can be detected by LIPS,but only protein 3a antibody was detected by IFA or WB.Antibodies against proteins 3a and 7b were only detected in ICU patients,which may serve as a marker for predicting disease progression.Further,we investigated the expression of accessory proteins in SARS-CoV-2-infected cells and identified the expressions of proteins 3a,6,7a,8,and 9b.We also analyzed their ability to induce antibodies in immunized mice and found that only proteins 3a,6,7a,8,9b and 9c were able to induce measurable antibody productions,but these antibodies lacked neutralizing activities and did not protect mice from SARS-CoV-2 infection.Our findings validate the expression of SARS-CoV-2 accessory proteins and elucidate their humoral immune response,providing a basis for protein detection assays and their role in pathogenesis.
