Clinical and genetic diagnosis of autosomal dominant osteopetrosis typeⅡin a Chinese family:A case report

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.

Distribution and dynamics of niche and interspecific association of dominant phytoplankton species in the Feiyun River basin,Zhejiang,China

To investigate the dominant species and interspecific association in the phytoplankton community of the Feiyun River basin in Zhejiang Province,East China,the main stream and the Shanxi Zhaoshandu Reservoir in the downstream were chosen as the study area,for which 22 sampling sites were designated.Sampling was conducted in September 2021,January,May,and July 2022.Phytoplankton species were identified from both quantitative samples and in-vivo observations.Phytoplankton was quantified by direct counting.Results show that there were 98 species belonging to 6 phyla and 78 genera.In addition,to clarify the niches of the dominant phytoplankton species and their interspecific association,the dominance index was calculated,and a comprehensive analysis was conducted including niche width,niche overlap value,ecological response rate,overall association,chi-square test,and the stability.The phytoplankton community exhibited characteristics of a Cyanobacteria-Chlorophyta-Diatom type community,showing higher diversity in spring and lower diversity in summer.Among 11 dominants phytoplankton species from 3 phyla,both frequency and dominance degree varied seasonally,of which Microcystis sp.was the dominant species in Spring,Autumn,and Winter.The niche widths of the dominant species ranged from 0.234 to 0.933,and were categorized into three groups.The niche overlap values of the 11 dominant species ranged from 0.359 to 0.959,exhibiting significant seasonal differences-highest in winter followed by autumn,spring,and summer in turn.The overall correlation among dominant species in all four seasons revealed a non-significant negative association,resulting in an unstable community structure.A significant portion(84.2%)of species pairs displayed positive associations,suggesting a successional pattern where Diatoms dominated while other dominant species shared resources and space.Despite this pattern,stability measurements indicated that the dominant species community remained unstable.Therefore,careful monitoring is recommended for potential water environment issues arising from abnormal proliferation of dominant species in the watershed during winter.This research built a theoretical foundation with a data support to the early warning of eutrophication and provided a reference for water resources management in similar watersheds along the eastern coast of China.

Dominant woody plant species recognition with a hierarchical model based on multimodal geospatial data for subtropical forests

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.

Species’ geographical range, environmental range and traits lead to specimen collection preference of dominant plant species of grasslands in Northern China

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.

Complex adaptive system theory,agent-based modeling,and simulation in dominant technology formation

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.

Safety and efficacy of transcatheter arterial embolization in autosomal dominant polycystic kidney patients with gross hematuria: Six case reports

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.

Incidental renal cell carcinoma post bilateral nephrectomy in autosomal dominant polycystic kidney disease

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.

Vector Dominance with Threshold Searchable Encryption (VDTSE) for the Internet of Things

The Internet of Medical Things(IoMT)is an application of the Internet of Things(IoT)in the medical field.It is a cutting-edge technique that connects medical sensors and their applications to healthcare systems,which is essential in smart healthcare.However,Personal Health Records(PHRs)are normally kept in public cloud servers controlled by IoMT service providers,so privacy and security incidents may be frequent.Fortunately,Searchable Encryption(SE),which can be used to execute queries on encrypted data,can address the issue above.Nevertheless,most existing SE schemes cannot solve the vector dominance threshold problem.In response to this,we present a SE scheme called Vector Dominance with Threshold Searchable Encryption(VDTSE)in this study.We use a Lagrangian polynomial technique and convert the vector dominance threshold problem into a constraint that the number of two equal-length vectors’corresponding bits excluding wildcards is not less than a threshold t.Then,we solve the problem using the proposed technique modified in Hidden Vector Encryption(HVE).This technique makes the trapdoor size linear to the number of attributes and thus much smaller than that of other similar SE schemes.A rigorous experimental analysis of a specific application for privacy-preserving diabetes demonstrates the feasibility of the proposed VDTSE scheme.

Genetic Analysis and Mapping of Genes Involved in Fertility of Pingxiang Dominant Genic Male Sterile Rice

Pingxiang-dominant genic male sterile rice （PDGMSR） was the first dominant genic male sterile mutant identified in rice （Oryza sativa L.）, and the corresponding dominant genic male sterile gene was designated as Ms-p. The fertility of PDGMSR can be restored by introduction of a dominant epistatic fertility restoring gene in some rice varieties. In the present study, E823, an indica inbred rice variety, restored the fertility of PDGMSR, and the genetic pattern was found to be consistent with a dominant epistatic model, therefore, the dominant epistatic fertility restorer gene was designated as Rfe. The F2 population from the cross of PDGMSR/E823 was developed to map gene Rfe. The F2 plants with the genotypes Ms-pMs-pRferfe or Ms-pms-pRferfe were used to construct a fertile pool, and the corresponding sterile plants with genotypes Ms-pMs-prferfe or Ms-pms-prferfe were used to con- struct a sterile pool. The fertility restoring gene Rfe was mapped to one side of the microsatellite markers RM311 and RM3152 on rice chromosome 10, with genetic distances of 7.9 cM and 3.6 cM, respectively. The microsatellite markers around the location of the Ms-p gene were used to finely map the Ms-p gene. The findings of this study indicated that the microsatellite markers RM171 and RM6745 flanked the Ms-p gene, and the distances were 0.3 cM and 3.0 cM, respectively. On the basis of the sequence of rice chromosome 10, the physical distance between the two markers is approximately 730 kb. These findings facilitates molecular marker-assisted selection （MAS） of genes Ms-p and Rfe in rice breeding programs, and cloning them in the future.

Detecting overlapping communities in networks via dominant label propagation

Community detection is an important methodology for understanding the intrinsic structure and function of a realworld network. In this paper, we propose an effective and efficient algorithm, called Dominant Label Propagation Algorithm（Abbreviated as DLPA）, to detect communities in complex networks. The algorithm simulates a special voting process to detect overlapping and non-overlapping community structure in complex networks simultaneously. Our algorithm is very efficient, since its computational complexity is almost linear to the number of edges in the network. Experimental results on both real-world and synthetic networks show that our algorithm also possesses high accuracies on detecting community structure in networks.

DMMF: Dominant and Max-Min Fair Allocation in Satellite Networks

Resource allocation is crucial for satellite networks. In this paper, we propose a multi-resource fair allocation scheme, namely Dominant and Max-min Fair(DMMF), to efficiently and fairly allocate resources. It consists of two allocation stages, dominant resource fair(DRF) allocation stage and max-min fairness(MMF) allocation stage. The proposed DMMF scheme exhibits desirable properties, including share incentive, strategy proofness, envy freeness and Pareto optimality. Meanwhile, DMMF can improve the allocation efficiency and reach 100% allocation efficiency.

Adaptive genetic diversity of dominant species contributes to species co-existence and community assembly

The synthesis of evolutionary biology and community ecology aims to understand how genetic variation within one species can shape community properties and how the ecological properties of a community can drive the evolution of a species.A rarely explored aspect is whether the interaction of genetic variation and community properties depends on the species'ecological role.Here we investigated the interactions among environmental factors,species diversity,and the within-species genetic diversity of species with different ecological roles.Using high-throughput DNA sequencing,we genotyped a canopydominant tree species,Parashorea chinensis,and an understory-abundant species,Pittosporopsis kerrii,from fifteen plots in Xishuangbanna tropical seasonal rainforest and estimated their adaptive,neutral and total genetic diversity;we also surveyed species diversity and assayed key soil nutrients.Structural equation modelling revealed that soil nitrogen availability created an opposing effect in species diversity and adaptive genetic diversity of the canopy-dominant Pa.chinensis.The increased adaptive genetic diversity of Pa.chinensis led to greater species diversity by promoting co-existence.Increased species diversity reduced the adaptive genetic diversity of the dominant understory species,Pi.kerrii,which was promoted by the adaptive genetic diversity of the canopy-dominant Pa.chinensis.However,such relationships were absent when neutral genetic diversity or total genetic diversity were used in the model.Our results demonstrated the important ecological interaction between adaptive genetic diversity and species diversity,but the pattern of the interaction depends on the identity of the species.Our results highlight the significant ecological role of dominant species in competitive interactions and regulation of community structure.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy

The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.

Dominant phase-advanced driving analysis of self-sustained oscillations in biological networks

Oscillatory behaviors can be ubiquitously observed in various systems. Biological rhythms are significant in governing living activities of all units. The emergence of biological rhythms is the consequence of large numbers of units. In this paper we discuss several important examples of sustained oscillations in biological media, where the unit composed in the system does not possess the oscillation behavior. The dominant phase-advanced driving method is applied to study the skeletons and oscillatory organizing motifs in excitable networks and gene regulatory networks.

Genetic Mechanism of Dominant Earliness in Kefeng A,a New Rice Cytoplasmic Male Sterile Line

Kefeng A is an early maturing indica cytoplasmic male sterile （CMS） line of rice. Combinations derived from Kefeng A and late maturing indica restorer lines showed dominant earliness to various extents. To understand the genetic basis of dominant earliness, the genotype of photoperiod-sensitive genes in Kefeng A was analyzed using a complete set of heading time near isogenic lines （NILs） EGO to EG7, ER, LR, T65, T65E^b, T65E^bm, T65m, NIL（Hd1） and NIL（Hd4）. Results indicated that Kefeng A contained two dominant photoperiod-sensitive alleles E1 and Se-1^U on E1 and Se-1 loci, respectively, and the genotype of photoperiod-sensitivity genes for heading time in Kefeng A was E1E1e2e2E3E3Se-1^USe-1UEf-1Ef-1. Based on the detected heading time genotype, in combination with the heading time of Kefeng A and the early maturing phenomenon in its derived F1 hybrids, it is speculated that Kefeng A might carry a dominant inhibitor gene Su-E7 for the dominant photoperiod- sensitive gene E1, and a recessive inhibitor gene i-Se-1 for another dominant photoperiod-sensitive gene Se-1. The reason why F1 hybrids from Kefeng A exhibited early maturing was hereby analyzed and the breeding value of dominant earliness related genes in Kefeng A was discussed.

Dominant early heading without yield drag in a sister-line BC breeding progeny DEH_229 is controlled by multiple genetic factors with maineffect loci

Dominant early heading(DEH)in rice(Oryza sativa L.)is of interest in both breeding and genetics.The genetic mechanisms underlying DEH have remained largely unclear.We have developed a near-isogenic DEH line without yield drag named DEH_229 by sister-line backcross(BC)breeding with MH63,a restorer,as the genetic background.We conducted a pilot genetic investigation under both short-day(SD)and long-day(LD)conditions.The DEH line harbored only 1.06%variation in the genome sequence relative to MH63.The variants were distributed throughout the genome.Using QTL mapping by sequencing(QTL-seq)on an F_(2) population derived from a cross of MH63×DEH_229,57 loci were detected under the SD condition.Joint mapping employing a genome-wide association study with accessions from the 3000 rice genome sequencing project(3K-RG),reduced the number of QTL by 43.9%.Using Rice Functional Genomics&Breeding(RFGB)database,the number of SNP cluster regions within the QTL regions reduced by 27.3%.Further comparison of the genome variation between DEH_229 and MH63 in addition to gene annotation information revealed a new DEH allele of DTH3 with multiple variable sites as a possible major factor underlying the early-heading phenotype of DEH_229.An InDel marker,ZMEH_1,was designed based on the variation between DEH_229 and MH63 within this region.It accounted for 86.0%of heading date variation under both SD and LD conditions in 109 randomly chosen progeny derived from extreme lines of the MH63×DEH_229 population.This study reveals the genetic complexity of DEH in the near-isogenic line and may provide useful material and marker information for plant molecular breeding.

Evolutionary Games in Two-Layer Networks with the Introduction of Dominant Strategy

We study evolutionary games in two-layer networks by introducing the correlation between two layers through the C-dominance or the D-dominance. We assume that individuals play prisoner＇s dilemma game （PDG） in one layer and snowdrift game （SDG） in the other. We explore the dependences of the fraction of the strategy cooperation in different layers on the game parameter and initial conditions. The results on two-layer square lattices show that, when cooperation is the dominant strategy, initial conditions strongly influence cooperation in the PDG layer while have no impact in the SDG layer. Moreover, in contrast to the result for PDG in single-layer square lattices, the parameter regime where cooperation could be maintained expands significantly in the PDG layer. We also investigate the effects of mutation and network topology. We find that different mutation rates do not change the cooperation behaviors. Moreover, similar behaviors on cooperation could be found in two-layer random networks.

The notion of dominant terminology in bibliometric research

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.

Comparison of growth and nutrient uptake capacities of three dominant species of Qinhuangdao green tides

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.

Clinical Characteristics of Macular Hole and Macular Epiretinal Membrane in Dominant and Nondominant Eyes

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.