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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
基金Supported by Sanitation Research Project of Kunming Municipal Health Commission,No.2020-06-01-119.
文摘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.
基金supported by the Shanghai Philosophy and Social Science Foundation(2022ECK004)Shanghai Soft Science Research Project(23692123400)。
文摘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.
基金the Natural Science Foundation of Inner Mongolia,China(2023JQ01)the National Key R&D Program of China(2019YFA0607103)+2 种基金the Central Government Guides Local Science and Technology Development Fund Projects(2022ZY0224)the Open Project Program of Ministry of Education Key Laboratory of Ecology and Resources Use of the Mongolian Plateau,Hohhot,Inner Mongolia,China(KF2023003)Major Science and Technology Project of Inner Mongolia Autonomous Region:Monitoring,Assessment and Early Warning Technology Research of Biodiversity in Inner Mongolia(2021ZD0011)for financial support.
文摘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.
基金supported by the National Technology Extension Fund of Forestry,Forest Vegetation Carbon Storage Monitoring Technology Based on Watershed Algorithm ([2019]06)Fundamental Research Funds for the Central Universities (No.PTYX202107).
文摘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.
文摘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.
基金The Research fund from the Chosun University Hospital,No.2023-26.
文摘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.
文摘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.
文摘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.
基金supported by the Shanghai Clinical Three-Year Action Plan-Major Clinical Research Project[SHDC2020CR2041B]Xuhui District Health and Family Planning Commission Key Disease Joint Project[XHLHGG201807]。
文摘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.
基金The Fund of Key Laboratory of Ecological Prewarning,Protection and Restoration of Bohai Sea,Ministry of Natural Resources under contract No.2022107the Qingdao Postdoctoral Applied Research Project under contract No.QDBSH202001。
文摘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.
基金Supported by National Natural Science Foundation of China(No.31751003)Natural Science Foundation of Zhejiang Province(No.LY20H120009)+1 种基金Health Commission of Zhejiang Province(No.2022KY168)Beijing Bethune Charitable Foundation(No.BJ-GY2021013J).
文摘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.
文摘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.
基金Supported by Shenzhen Science and Technology Project,No. SGLH20180628161804465The Clinical Research Project of The First Affiliated Hospital of Shenzhen University,No. 20203357035 and No. 20223357021。
文摘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.
文摘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.
基金Supported by the Science and Technology Plan Program of Sichuan of China,No.2018JY0608。
文摘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.
基金the National Science Foundation of China,No.81800292.
文摘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.
文摘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.
文摘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.
基金Project supported by the National Natural Science Foundation of China(Grant No.62101600)the Science Foundation of China University of Petroleum,Beijing(Grant No.2462021YJRC008)the State Key Laboratory of Cryptology(Grant No.MMKFKT202109).
文摘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.
基金supported by the National Natural Science Foundation of China(Grant No.61976101)the University Natural Science Research Project of Anhui Province(Grant No.2023AH040056)+4 种基金the Natural Science Research Project of Anhui Province(Graduate Research Project,Grant No.YJS20210463)the Funding Plan for Scientic Research Activities of Academic and Technical Leaders and Reserve Candidates in Anhui Province(Grant No.2021H264)the Top Talent Project of Disciplines(Majors)in Colleges and Universities in Anhui Province(Grant No.gxbjZD2022021)the University Synergy Innovation Program of Anhui Province,China(GXXT-2022-033)supported by the Innovation Fund for Postgraduates of Huaibei Normal University(Grant Nos.cx2022041,yx2021023,CX2023043).
文摘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.