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Pulmonary alveolar proteinosis induced by X-linked agammaglobulinemia:A case report
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作者 Ting Zhang Ming Li +1 位作者 Li Tan Xin Li 《World Journal of Clinical Cases》 SCIE 2024年第9期1644-1648,共5页
BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles... BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles,and there is little clinical evidence.We report the case of a child with both PAP and XLA.CASE SUMMARY A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for>2 wk.He had been hospitalized multiple times due to respiratory infections and diarrhea.Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations.Genetic testing confirmed that the boy also had XLA.Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy,the boy recovered and was discharged.During the follow-up period,the number of respiratory infections was significantly reduced,and PAP did not recur.CONCLUSION XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP. 展开更多
关键词 Pulmonary alveolar proteinosis x-linked agammaglobulinemia CHILDREN IMMUNODEFICIENCY Alveolar lavage Case report
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Complex adaptive system theory,agent-based modeling,and simulation in dominant technology formation
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作者 ZHANG Ruihan SUN Bing 《Journal of Systems Engineering and Electronics》 SCIE EI CSCD 2024年第1期130-153,共24页
Dominant technology formation is the key for the hightech industry to“cross the chasm”and gain an established foothold in the market(and hence disrupt the regime).Therefore,a stimulus-response model is proposed to i... Dominant technology formation is the key for the hightech industry to“cross the chasm”and gain an established foothold in the market(and hence disrupt the regime).Therefore,a stimulus-response model is proposed to investigate the dominant technology by exploring its formation process and mechanism.Specifically,based on complex adaptive system theory and the basic stimulus-response model,we use a combination of agent-based modeling and system dynamics modeling to capture the interactions between dominant technology and the socio-technical landscape.The results indicate the following:(i)The dynamic interaction is“stimulus-reaction-selection”,which promotes the dominant technology’s formation.(ii)The dominant technology’s formation can be described as a dynamic process in which the adaptation intensity of technology standards increases continuously until it becomes the leading technology under the dual action of internal and external mechanisms.(iii)The dominant technology’s formation in the high-tech industry is influenced by learning ability,the number of adopting users and adaptability.Therein,a“critical scale”of learning ability exists to promote the formation of leading technology:a large number of adopting users can promote the dominant technology’s formation by influencing the adaptive response of technology standards to the socio-technical landscape and the choice of technology standards by the socio-technical landscape.There is a minimum threshold and a maximum threshold for the role of adaptability in the dominant technology’s formation.(iv)The socio-technical landscape can promote the leading technology’s shaping in the high-tech industry,and different elements have different effects.This study promotes research on the formation mechanism of dominant technology in the high-tech industry,presents new perspectives and methods for researchers,and provides essential enlightenment for managers to formulate technology strategies. 展开更多
关键词 complex adaptive system theory agent-based modeling and simulation dominant technology socio-technical landscape adaptation-choice
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Species’ geographical range, environmental range and traits lead to specimen collection preference of dominant plant species of grasslands in Northern China
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作者 Jingya Zhang Cui Xiao +5 位作者 Xiaoyu Duan Xin Gao Hao Zeng Rong'an Dong Gang Feng Keping Ma 《Plant Diversity》 SCIE CAS CSCD 2024年第3期353-361,共9页
Many different factors,such as species traits,socio-economic factors,geographical and environmental factors,can lead to specimen collection preference.This study aims to determine whether grassland specimen collection... Many different factors,such as species traits,socio-economic factors,geographical and environmental factors,can lead to specimen collection preference.This study aims to determine whether grassland specimen collection in China is preferred by species traits(i.e.,plant height,flowering and fruiting period),environmental range(i.e.,the temperature and precipitation range)and geographical range(i.e.,distribution range and altitudinal range).Ordinary least squares models and phylogenetic generalized linear mixed models were used to analyze the relationships between specimen number and the explanatory variables.Random Forest models were then used to find the most parsimonious multivariate model.The results showed that interannual variation in specimen number between 1900 and 2020 was considerable.Specimen number of these species in southeast China was notably lower than that in northwest China.Environmental range and geographical range of species had significant positive correlations with specimen number.In addition,there were relatively weak but significant associations between specimen number and species trait(i.e.,plant height and flowering and fruiting period).Random Forest models indicated that distribution range was the most important variable,followed by flowering and fruiting period,and altitudinal range.These findings suggest that future floristic surveys should pay more attention to species with small geographical range,narrow environmental range,short plant height,and short flowering and fruiting period.The correction of specimen collection preference will also make the results of species distribution model,species evolution and other works based on specimen data more accurate. 展开更多
关键词 Biological specimen Collection preference dominant plant species Environmental range Geographical range Species traits
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Dominant woody plant species recognition with a hierarchical model based on multimodal geospatial data for subtropical forests
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作者 Xin Chen Yujun Sun 《Journal of Forestry Research》 SCIE EI CAS CSCD 2024年第3期111-130,共20页
Since the launch of the Google Earth Engine(GEE)cloud platform in 2010,it has been widely used,leading to a wealth of valuable information.However,the potential of GEE for forest resource management has not been fully... Since the launch of the Google Earth Engine(GEE)cloud platform in 2010,it has been widely used,leading to a wealth of valuable information.However,the potential of GEE for forest resource management has not been fully exploited.To extract dominant woody plant species,GEE combined Sen-tinel-1(S1)and Sentinel-2(S2)data with the addition of the National Forest Resources Inventory(NFRI)and topographic data,resulting in a 10 m resolution multimodal geospatial dataset for subtropical forests in southeast China.Spectral and texture features,red-edge bands,and vegetation indices of S1 and S2 data were computed.A hierarchical model obtained information on forest distribution and area and the dominant woody plant species.The results suggest that combining data sources from the S1 winter and S2 yearly ranges enhances accuracy in forest distribution and area extraction compared to using either data source independently.Similarly,for dominant woody species recognition,using S1 winter and S2 data across all four seasons was accurate.Including terrain factors and removing spatial correlation from NFRI sample points further improved the recognition accuracy.The optimal forest extraction achieved an overall accuracy(OA)of 97.4%and a maplevel image classification efficacy(MICE)of 96.7%.OA and MICE were 83.6%and 80.7%for dominant species extraction,respectively.The high accuracy and efficacy values indicate that the hierarchical recognition model based on multimodal remote sensing data performed extremely well for extracting information about dominant woody plant species.Visualizing the results using the GEE application allows for an intuitive display of forest and species distribution,offering significant convenience for forest resource monitoring. 展开更多
关键词 Google Earth Engine SENTINEL Forest resource inventory data dominant woody plant species SUBTROPICS Model performance
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Safety and efficacy of transcatheter arterial embolization in autosomal dominant polycystic kidney patients with gross hematuria: Six case reports
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作者 Wei-Fan Sui Yun-Xin Duan +2 位作者 Jian-Yun Li Wei-Bin Shao Jian-Hua Fu 《World Journal of Clinical Cases》 SCIE 2024年第11期1954-1959,共6页
BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The ... BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The purpose of this study is to retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating ADPKD patients with gross hematuria.Materials and methods:During the period from January 2018 to December 2019,renal transcatheter arterial embolization was carried out on 6 patients with polycystic kidneys and gross hematuria.Renal arteriography was performed first,and then we determined the location of the hemorrhage and performed embolization under digital subtraction angiography monitoring.Improvements in routine blood test results,routine urine test results,urine color and postoperative reactions were observed and analyzed.Results:Renal transcatheter arterial embolization was successfully conducted in 6 patients.The indices of 5 patients and the color of gross hematuria improved after surgery compared with before surgery.No severe complication reactions occurred.CONCLUSION For autosomal dominant polycystic kidney syndrome patients with gross hematuria,transcatheter arterial embolization was safe and effective. 展开更多
关键词 Renal artery Autosomal dominant polycystic kidney disease Gross hematuria Interventional radiology EMBOLIZATION Case report
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Incidental renal cell carcinoma post bilateral nephrectomy in autosomal dominant polycystic kidney disease
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作者 Min-Ho Shin Nam-Kyu Choi 《World Journal of Clinical Cases》 SCIE 2024年第28期6187-6194,共8页
BACKGROUND Renal cell carcinoma(RCC)is more common in patients with autosomal dominant polycystic kidney disease(ADPKD)than in the general population.Diagnosing RCC in ADPKD is challenging due to the presence of multi... BACKGROUND Renal cell carcinoma(RCC)is more common in patients with autosomal dominant polycystic kidney disease(ADPKD)than in the general population.Diagnosing RCC in ADPKD is challenging due to the presence of multiple renal cysts,often leading to delays and difficulties in distinguishing RCC from cyst infection or hemorrhage.A total of 38 kidneys were excised from 19 patients,with a mean age of 56.8 years and an average hemodialysis duration of 84.2 months.Eight patients underwent open nephrectomies,and 11 underwent hand-assisted laparoscopic nephrec-tomies.RCC was detected in 15.8%of kidneys,affecting 21.1%of patients.Two patients had multifocal RCC in both kidneys.All RCC cases were pT1 stage,with the largest lesion averaging 16.5 mm in diameter.The average operative duration was 120 minutes,with intraoperative blood loss averaging 184.2 mL.Five patients required blood transfusions.Postoperative complications occurred in five patients,with a mean hospital stay of 17.1 days.The mean follow-up period was 28.1 months.CONCLUSION The prevalence of RCC is higher in patients with ADPKD with ESRD than in those with ESRD alone.Thus,clinicians should be cautious and implement surveillance programs to monitor the development of RCC in patients with ADPKD,particularly those on dialysis. 展开更多
关键词 Renal cell carcinoma Autosomal dominant polycystic kidney disease End-stage renal disease Kidney transplantation NEPHRECTOMY
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X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1
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作者 David J. Bunyan David O. Robinson +7 位作者 Anthony G. Tyers Shuwen Huang Vivienne K. Maloney Francis H. Grand Sarah Ennis Samantha R. de Silva John A. Crolla Tristan F. W. McMullan 《Open Journal of Genetics》 2014年第6期415-425,共11页
Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previou... Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage analysis on a family with dominantly inherited congenital bilateral isolated ptosis and found the condition to be linked to a region of approximately 20 megabases of chromosome Xq24-Xq27.1 with a cumulative LOD score of 5.89. We now describe further analysis using array comparative genomic hybridisation (array CGH), fluorescence in situ hybridisation (FISH), long range PCR and sequencing. This has enabled us to identify and characterise at the level of DNA sequence an insertional duplication and rearrangement involving chromosomes 1p21.3 and a small quasipalindromic sequence in Xq27.1, disruption of which has been associated with other phenotypes but which is cosegregating with X-linked congenital bilateral isolated ptosis in this family. This work highlights the significance of the small quasipalindromic sequence in genomic rearrangements involving Xq27.1 and the importance of comprehensive molecular and molecular cytogenetic investigations to fully characterise genomic structural complexity. 展开更多
关键词 PTOSIS x-linked dominant Insertional DUPLICATION
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The notion of dominant terminology in bibliometric research
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作者 Yves Fassin Ronald Rousseau 《Journal of Data and Information Science》 CSCD 2023年第4期1-7,共7页
In this opinion paper, we introduce the expressions of dominant terminology and dominant term in the quantitative studies of science in analogy to the notion of dominant design in product development and innovation.
关键词 dominant design dominant terminology Science of science BIBLIOMETRICS SCIENTOMETRICS
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Clinical Characteristics of Macular Hole and Macular Epiretinal Membrane in Dominant and Nondominant Eyes
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作者 LIU Yang WANG Xin +1 位作者 ZHU Min XU Ge Zhi 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2023年第1期112-116,共5页
Ocular dominance(OD) is referred to the superiority of one eye over the other when the visual sense is produced[1]. This condition can be considered as a preference for the particular laterality of the eye during a mo... Ocular dominance(OD) is referred to the superiority of one eye over the other when the visual sense is produced[1]. This condition can be considered as a preference for the particular laterality of the eye during a mono-visual task or the relative contributions of visual signal transduction between eyes[2]. Empirically, OD tendencies are exhibited in habitual and subconscious behavior. 展开更多
关键词 VISUAL dominANCE SUPERIORITY
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Comparison of growth and nutrient uptake capacities of three dominant species of Qinhuangdao green tides
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作者 Hongbin Han Ruobing Wen +1 位作者 Hui Wang Sheng Zhao 《Acta Oceanologica Sinica》 SCIE CAS CSCD 2023年第4期114-123,共10页
Since 2015, green tides have been blooming in offshore waters of Qinhuangdao, with serious impacts on the local ecological environment and tourism. Ulva australis, Bryopsis plumosa, and U. prolifera are the dominant s... Since 2015, green tides have been blooming in offshore waters of Qinhuangdao, with serious impacts on the local ecological environment and tourism. Ulva australis, Bryopsis plumosa, and U. prolifera are the dominant species of Qinhuangdao green tides, following a sequential succession pattern. Ulva prolifera is the dominant species,with the highest biomass and the greatest influence on the local ecological environment. To study the reason of green tide dominant species succession and U. profilera became the dominant species with the largest biomass,we compared and analyzed the growth and nutrient uptake capacity of the three algae. The results showed that temperature significantly affects the growth of the three species. Within the temperature range of the experimental setup, the optimum temperature for the growth of U. australis, B. plumosa and U. profilera is10℃, 15℃, and 20–25℃, respectively. Combined with the temperature variation trend during green tide bloom development, we believe that temperature is the key environmental factor for the succession of the dominant species. Ulva prolifera has a higher growth rate than U. australis and B. plumosa under the same nitrate,ammonium, and phosphate levels. Significant differences in the maximum absorption rate(R_(max)) and R_(max)/Ks(the relationship between uptake rate and substrate concentration) values indicated that U. prolifera had an apparent competitive advantage over U. australis and B. plumosa regarding nutrient uptake. Therefore, the strong growth and nutrient uptake capacities of U. prolifera might be the main reason for becoming the dominant species with the largest biomass in Qinhuangdao green tides. 展开更多
关键词 GROWTH nutrient uptake dominant specie green tide Qinhuangdao
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A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay
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作者 Hui-Qin Wang Pei-Kuan Cong +2 位作者 Tian He Xiao-Feng Yu Ya-Nan Huo 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2023年第10期1595-1600,共6页
AIM:To report a novel splicing mutation in the RPGR gene(encoding retinitis pigmentosa GTPase regulator)in a three-generation Chinese family with X-linked retinitis pigmentosa(XLRP).METHODS:Comprehensive ophthalmic ex... AIM:To report a novel splicing mutation in the RPGR gene(encoding retinitis pigmentosa GTPase regulator)in a three-generation Chinese family with X-linked retinitis pigmentosa(XLRP).METHODS:Comprehensive ophthalmic examinations including best corrected visual acuity,fundus photography,vision field,and pattern-visual evoked potential were performed to identify the disease phenotype of a six-yearold boy from the family(proband).Genomic DNA was extracted from peripheral blood of five available members of the pedigree.Whole-exome sequencing(WES),Sanger sequencing,and pSPL3-based exon trapping were used to investigate the aberrant splicing of RPGR.Human Splice Finder v3.1 and NNSPLICE v0.9 were used for in silico prediction of splice site variants.RESULTS:The proband was diagnosed as having retinitis pigmentosa(RP).He had severe symptoms with early onset.A novel splicing mutation,c.619+1G>C in RPGR was identified in the proband by WES and in four family members by Sanger sequencing.Minigene splicing assays verified that c.619+1G>C in RPGR would result in the formation of a damaging alternative transcript in which the last 91 bp of exon 6 were skipped,leading to the subsequent deletion of 623 correct amino acids(c.529_619del p.Val177Glnfs*16).CONCLUSION:We identify a novel splice donor site mutation causing aberrant splicing of RPGR.Our findings add to the catalog of pathological mutations of RPGR and further emphasize the functional importance of RPGR in RP pathogenesis and its complex clinical phenotypes. 展开更多
关键词 retinitis pigmentosa x-linked inheritance RPGR splicing mutation pSPL3 minigene assay
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Dominant factors in MiniCone, CPT and pile correlations: A data‐based approach
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作者 Seyed Sajad Shirani Abolfazl Eslami +1 位作者 Amirhossein Ebrahimipour Moses Karakouzian 《Deep Underground Science and Engineering》 2023年第4期346-358,共13页
The cone penetration test(CPT)contributes to the design and analysis of piles regarding geometry,installation effect,and pile capacity(shaft and toe resistance).MiniCone,as an alternative to CPT sounding,has been used... The cone penetration test(CPT)contributes to the design and analysis of piles regarding geometry,installation effect,and pile capacity(shaft and toe resistance).MiniCone,as an alternative to CPT sounding,has been used to carry outfield and laboratory investigations by physical modeling.More tests can be practically carried out through light equipment and small soil mass,involving fewer errors caused by boundary conditions.Furthermore,it can be used for in situ testing,such as quality control,assessment of ground improvement,and subgrade characterization.A database comprising MiniCone and CPT records infield and physical modeling is proposed with a variety of cone diameters.The case study records in the database have been obtained from 140 tests compiled from data from 26 sources.The sources include the results of 20 physical modelings andfield data from six sites in 10 countries.The data comprise MiniCone and CPT cone tip resistance(qc),and sleeve friction(fs).The different cones are used in sandy,silty sand,and clayey soils via simple chambers(1 g),calibration chambers,and frustum confining vessels.In addition,correlations were found in penetration records in terms of physical modeling types,cone diameters,penetration rates,and soil densities.Moreover,qc and fs are related to capacities of pile toes and shafts using proper correlation coefficients less than unity,respectively.Correlations and dominant factors in geotechnical practice between MiniCone,CPT,and pile have been reviewed and discussed. 展开更多
关键词 CORRELATIONS CPT DATABASE dominant factors MiniCone PILE
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X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report
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作者 Qiang Zhang Yang Wang +3 位作者 Run-Tao Bai Bao-Rong Lian Yu Zhang Li-Ming Cao 《World Journal of Clinical Cases》 SCIE 2023年第2期464-471,共8页
BACKGROUND Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vacci... BACKGROUND Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vaccinations on individuals with Xlinked Charcot-Marie-Tooth disease type 1(CMTX1) is unclear. Patients with CMTX1 can have stroke-like episodes with posterior reversible encephalopathy syndrome on magnetic resonance imaging(MRI), although this is rare.CASE SUMMARY A 39-year-old man was admitted with episodic aphasia and dysphagia for 2 d. He received SARS-CoV-2 vaccination 39 d before admission. Physical examination showed pes cavus and reduced tendon reflexes. Brain MRI showed bilateral, symmetrical, restricted diffusion with T2 hyperintensities in the cerebral hemispheres. Nerve conduction studies revealed peripheral nerve damage. He was diagnosed with Charcot-Marie-Tooth disease, and a hemizygous mutation in the GJB1 gene on the X chromosome, known to be pathogenic for CMTX1, was identified. Initially, we suspected transient ischemic attack or demyelinating leukoencephalopathy. We initiated treatment with antithrombotic therapy and immunotherapy. At 1.5 mo after discharge, brain MRI showed complete resolution of lesions, with no recurrence.CONCLUSION SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation. 展开更多
关键词 x-linked Charcot-Marie-Tooth disease SARS-CoV-2 vaccination Stroke-like episodes Reversible splenial lesion syndrome Demyelinating leukoencephalopathy Case report
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Investigation of Demographic and Clinical Data of Patients with Autosomal Dominant Polycystic Kidney Disease
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作者 Hazen Sarıtas Ömer Erdoğan Fesih Ok 《Open Journal of Nephrology》 2023年第4期395-404,共10页
Background: Autosomal dominant polycystic kidney disease (ADPKD) is an important etiological factor causing chronic kidney disease (CKD), cardiovascular diseases and hypertension (HT). The purpose of the present study... Background: Autosomal dominant polycystic kidney disease (ADPKD) is an important etiological factor causing chronic kidney disease (CKD), cardiovascular diseases and hypertension (HT). The purpose of the present study is to investigate the clinical information and demographic characteristics of autosomal dominant polycystic kidney disease patients who received treatment at our hospital for the last five years. Material and Method: Among 21400 people who sought care at Siirt State Hospital Urology and Nephrology Outpatient Clinics between January 2015 and January 2020 for various reasons, a total of 36 patients experiencing autosomal dominant polycystic kidney disease were included in the present research. Retrospective patient file access was used to gather demographic information and laboratory data. Results: The study included 36 patients in all, 25 (69.4%) male and 11 (30.6%) female. The patient’s average age was 50.8 ± 19.0. The average age at diagnosis was 43.4 ± 17.2. Family history was positive in 29 (80.5%) of the patients. There were hypertension in 27 (75.0%) patients, coronary artery disease in five (13.9%) patients, diabetes mellitus in five (13.9%) patients, left ventricular hypertrophy in 18 (50%) patients, proteinuria in 11 (30.6%) patients, and six (16.7%) patients had macroscopic hematuria. Liver cysts were found in 23 (63.9%) of the patients and nephrolithiasis in eight (22.2%). Discussion: Hypertension is the most common finding when clinical and demographic data of autosomal dominant polycystic kidney disease are examined. Providing blood pressure control reduces the risk of death due to left ventricular hypertrophy and slows down the rate at which chronic kidney disease progresses. The rate was found to be 80.5% for patients with a positive family history. It may be possible to diagnose and treat people with autosomal dominant polycystic kidney disease earlier by screening their family members. 展开更多
关键词 HYPERTENSION Autosomal dominant Kidney Disease Demographic Information Chronic Kidney Disease
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Clinical and genetic diagnosis of autosomal dominant osteopetrosis typeⅡin a Chinese family:A case report
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作者 Hong-Ping Gong Yan Ren +4 位作者 Pan-Pan Zha Wen-Yan Zhang Jin Zhang Zhi-Wen Zhang Chun Wang 《World Journal of Clinical Cases》 SCIE 2023年第3期700-708,共9页
BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts.Approximately,80%of autosomal dominant osteopetrosis type II(ADO-II)patients ... BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts.Approximately,80%of autosomal dominant osteopetrosis type II(ADO-II)patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7(ClCN7)gene and present early-onset osteoarthritis or recurrent fractures.In this study,we report a case of persistent joint pain without bone injury or underlying history.CASE SUMMARY We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II.The clinical diagnosis was based on increased bone density and typical radiographic features.Two heterozygous mutations in the ClCN7 and Tcell immune regulator 1(TCIRG1)genes by whole exome sequencing were identified in the patient and her daughter.The missense mutation(c.857G>A)occurred in the CLCN7 gene p.R286Q,which is highly conserved across species.The TCIRG1 gene point mutation(c.714-20G>A)in intron 7(near the splicing site of exon 7)had no effect on subsequent transcription.CONCLUSION This ADO-II case had a pathogenic CLCN7 mutation and late onset without the usual clinical symptoms.For the diagnosis and assessment of the prognosis for osteopetrosis,genetic analysis is advised. 展开更多
关键词 OSTEOPETROSIS Autosomal dominant osteopetrosis typeⅡ DIAGNOSIS Genetic analysis Case report
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Identification of the dominant loop of a dual-loop macro-reentry left atrial flutter without prior intervention using high-density mapping technology:A case report
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作者 Shan-Dong Yu Yan-Peng Chu 《World Journal of Clinical Cases》 SCIE 2023年第26期6165-6169,共5页
BACKGROUND Left atrial flutter without prior cardiac interventions is uncommon,especially dual-loop macro-reentry atrial flutter.The critical step to ablate dual-loop macroreentry atrial flutter is to identify the dom... BACKGROUND Left atrial flutter without prior cardiac interventions is uncommon,especially dual-loop macro-reentry atrial flutter.The critical step to ablate dual-loop macroreentry atrial flutter is to identify the dominant loop and key isthmus.Although entrainment mapping could help identify the dominant loop and key isthmus,it may alter or terminate tachycardia.High-density mapping allows the generation of electroanatomic maps without altering or terminating tachycardia.CASE SUMMARY Here,we report a case of symptomatic left atrial flutter without prior intervention.In this case,high-density mapping revealed a dual-loop macro-reentry around the mitral annulus and central scar of the anterior wall.The propagation result showed that the dominant loop was around the mitral annulus,and the key isthmus was between the central scar and mitral annulus.The atrial flutter terminated successfully after ablation was performed.CONCLUSION In this case,we demonstrate that high-density mapping technology may help identify the dominant loop of dual-loop atrial flutter without entrainment,which makes ablation easier. 展开更多
关键词 Dual-loop atrial flutter Macro-reentry High-density mapping dominant loop Case report
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Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A:A case report and review of the literature
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作者 Cai-Feng Xia Rong Yan +1 位作者 Wen-Wen Su Yu-He Liu 《World Journal of Clinical Cases》 SCIE 2023年第25期5962-5969,共8页
BACKGROUND Variants in the MYO7A gene commonly result in Usher syndrome,and in rare cases lead to autosomal dominant non-syndromic deafness(DFNA11).Currently,only nine variants have been reported to be responsible for... BACKGROUND Variants in the MYO7A gene commonly result in Usher syndrome,and in rare cases lead to autosomal dominant non-syndromic deafness(DFNA11).Currently,only nine variants have been reported to be responsible for DFNA11 and their clinical phenotypes are not identical.Here we present a novel variant causing DFNA11 identified in a three-generation Chinese family.CASE SUMMARY The proband was a 53-year-old Han male who presented with post-lingual bilateral symmetrical moderate sensorineural hearing loss.We learned from the patient’s medical history collection that multiple family members also had similar hearing loss,generally occurring around the age of 40.Subsequent investigation by high-throughput sequencing identified a novel MYO7A variant.To provide evidence supporting that this variant is responsible for the hearing loss in the studied family,we performed Sanger sequencing on 11 family members and found that the variant co-segregated with the deafness phenotype.In addition,the clinical manifestation of the 11 affected family members was found to be lateonset bilateral slowly progressive hearing loss,inherited in this family in an autosomal dominant manner.None of the affected family members had visual impairment or vestibular symptoms;therefore,we believe that this novel MYO7A variant is responsible for the rare DFNA11 in this family.CONCLUSION We report a novel variant leading to DFNA11 which further enriches the collection of MYO7A variants,and our review of the nine previous variants that have been identified to cause DFNA11 provides a reference for clinical genetic counseling. 展开更多
关键词 Autosomal dominant hearing loss MYO7A gene Non-syndromic hearing loss VARIANT Hereditary hearing loss Case report
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Binary Archimedes Optimization Algorithm for Computing Dominant Metric Dimension Problem
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作者 Basma Mohamed Linda Mohaisen Mohammed Amin 《Intelligent Automation & Soft Computing》 2023年第10期19-34,共16页
In this paper,we consider the NP-hard problem of finding the minimum dominant resolving set of graphs.A vertex set B of a connected graph G resolves G if every vertex of G is uniquely identified by its vector of dista... In this paper,we consider the NP-hard problem of finding the minimum dominant resolving set of graphs.A vertex set B of a connected graph G resolves G if every vertex of G is uniquely identified by its vector of distances to the vertices in B.A resolving set is dominating if every vertex of G that does not belong to B is a neighbor to some vertices in B.The dominant metric dimension of G is the cardinality number of the minimum dominant resolving set.The dominant metric dimension is computed by a binary version of the Archimedes optimization algorithm(BAOA).The objects of BAOA are binary encoded and used to represent which one of the vertices of the graph belongs to the dominant resolving set.The feasibility is enforced by repairing objects such that an additional vertex generated from vertices of G is added to B and this repairing process is iterated until B becomes the dominant resolving set.This is the first attempt to determine the dominant metric dimension problem heuristically.The proposed BAOA is compared to binary whale optimization(BWOA)and binary particle optimization(BPSO)algorithms.Computational results confirm the superiority of the BAOA for computing the dominant metric dimension. 展开更多
关键词 dominant metric dimension archimedes optimization algorithm binary optimization alternate snake graphs
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Quantum algorithm for minimum dominating set problem with circuit design
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作者 张皓颖 王绍轩 +2 位作者 刘新建 沈颖童 王玉坤 《Chinese Physics B》 SCIE EI CAS CSCD 2024年第2期178-188,共11页
Using quantum algorithms to solve various problems has attracted widespread attention with the development of quantum computing.Researchers are particularly interested in using the acceleration properties of quantum a... Using quantum algorithms to solve various problems has attracted widespread attention with the development of quantum computing.Researchers are particularly interested in using the acceleration properties of quantum algorithms to solve NP-complete problems.This paper focuses on the well-known NP-complete problem of finding the minimum dominating set in undirected graphs.To expedite the search process,a quantum algorithm employing Grover’s search is proposed.However,a challenge arises from the unknown number of solutions for the minimum dominating set,rendering direct usage of original Grover’s search impossible.Thus,a swap test method is introduced to ascertain the number of iterations required.The oracle,diffusion operators,and swap test are designed with achievable quantum gates.The query complexity is O(1.414^(n))and the space complexity is O(n).To validate the proposed approach,qiskit software package is employed to simulate the quantum circuit,yielding the anticipated results. 展开更多
关键词 quantum algorithm circuit design minimum dominating set
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A Reference Vector-Assisted Many-Objective Optimization Algorithm with Adaptive Niche Dominance Relation
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作者 Fangzhen Ge Yating Wu +1 位作者 Debao Chen Longfeng Shen 《Intelligent Automation & Soft Computing》 2024年第2期189-211,共23页
It is still a huge challenge for traditional Pareto-dominatedmany-objective optimization algorithms to solve manyobjective optimization problems because these algorithms hardly maintain the balance between convergence... It is still a huge challenge for traditional Pareto-dominatedmany-objective optimization algorithms to solve manyobjective optimization problems because these algorithms hardly maintain the balance between convergence and diversity and can only find a group of solutions focused on a small area on the Pareto front,resulting in poor performance of those algorithms.For this reason,we propose a reference vector-assisted algorithmwith an adaptive niche dominance relation,for short MaOEA-AR.The new dominance relation forms a niche based on the angle between candidate solutions.By comparing these solutions,the solutionwith the best convergence is found to be the non-dominated solution to improve the selection pressure.In reproduction,a mutation strategy of k-bit crossover and hybrid mutation is used to generate high-quality offspring.On 23 test problems with up to 15-objective,we compared the proposed algorithm with five state-of-the-art algorithms.The experimental results verified that the proposed algorithm is competitive. 展开更多
关键词 Many-objective optimization evolutionary algorithm Pareto dominance reference vector adaptive niche
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