BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE S...BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.展开更多
While numerous studies in English as a second/foreign language （EFL） have examined vocabulary learning and teaching in the perspective of theories and practical tips, there is a paucity of research on the impact of ...While numerous studies in English as a second/foreign language （EFL） have examined vocabulary learning and teaching in the perspective of theories and practical tips, there is a paucity of research on the impact of high-frequency words learning on preparing new EFL residents for the life in English-speaking countries. In order to fill this gap, this study draws on the experience of two EFL learners in New Zealand （NZ）, so as to explore the effectiveness of a 16-week daily-English-focused vocabulary learning program, which might generate useful implications about the effective adaption of new EFL residents to their target countries.展开更多
Dear Editor,I am Dr.Soraya Mediero,from Department of Ophthalmology of La Paz University Hospital,Madrid,Spain.I write to present a case report of keratoconus associated with Williams-Beuren syndrome（WBS）.
BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270...BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.展开更多
Based on updating of new generation weather radar software,compilation system of new generation weather radar case data could automatically back up data and compile radar case.Using C language and VC++6.0 development ...Based on updating of new generation weather radar software,compilation system of new generation weather radar case data could automatically back up data and compile radar case.Using C language and VC++6.0 development technology,the software realizes the automatic sorting and saving of radar base data,radar products and radar status information on different machines every day,and automatically creates various folders and files required for compiling data.By inputting the days,date,start and end times,renaming and compression of the base data,product data and status information could be automatically completed,to realize automation,batch,process and standardization of case data compilation.Since putting into the radar business,the operation has been stable and reliable.The working efficiency of business personnel has been improved,and a large number of manpower has been saved.It can be transplanted and popularized in other new generation weather radar stations.展开更多
There is an urgent necessity to introduce the life cycle development method and a Computer-Aided Software Engineering (CASE) environment to support the development of a Computer Integrated Manufacturing (CIM) system. ...There is an urgent necessity to introduce the life cycle development method and a Computer-Aided Software Engineering (CASE) environment to support the development of a Computer Integrated Manufacturing (CIM) system. In this paper, we present several ideas while inquiring how to apply CASE tools to CIM process effectively, and propose five proper applicable paradigms to enhance the possibility of applications that the CIM process may make better use of CASE tools.展开更多
基金Key Health Science and Technology Development Project of Nanjing City,Jiangsu Province,No.ZKX19038.
文摘BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.
文摘While numerous studies in English as a second/foreign language （EFL） have examined vocabulary learning and teaching in the perspective of theories and practical tips, there is a paucity of research on the impact of high-frequency words learning on preparing new EFL residents for the life in English-speaking countries. In order to fill this gap, this study draws on the experience of two EFL learners in New Zealand （NZ）, so as to explore the effectiveness of a 16-week daily-English-focused vocabulary learning program, which might generate useful implications about the effective adaption of new EFL residents to their target countries.
文摘Dear Editor,I am Dr.Soraya Mediero,from Department of Ophthalmology of La Paz University Hospital,Madrid,Spain.I write to present a case report of keratoconus associated with Williams-Beuren syndrome（WBS）.
文摘BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.
基金Supported by Scientific Research and Technology Development Project of Wuzhou Meteorological Bureau(WUQIKE2020001)。
文摘Based on updating of new generation weather radar software,compilation system of new generation weather radar case data could automatically back up data and compile radar case.Using C language and VC++6.0 development technology,the software realizes the automatic sorting and saving of radar base data,radar products and radar status information on different machines every day,and automatically creates various folders and files required for compiling data.By inputting the days,date,start and end times,renaming and compression of the base data,product data and status information could be automatically completed,to realize automation,batch,process and standardization of case data compilation.Since putting into the radar business,the operation has been stable and reliable.The working efficiency of business personnel has been improved,and a large number of manpower has been saved.It can be transplanted and popularized in other new generation weather radar stations.
文摘There is an urgent necessity to introduce the life cycle development method and a Computer-Aided Software Engineering (CASE) environment to support the development of a Computer Integrated Manufacturing (CIM) system. In this paper, we present several ideas while inquiring how to apply CASE tools to CIM process effectively, and propose five proper applicable paradigms to enhance the possibility of applications that the CIM process may make better use of CASE tools.
