Background:Continuous care for children with enterostomy and their families has been gaining popularity in China.Objective:To evaluate the feasibility of continuous care for children with enterostomy and their familie...Background:Continuous care for children with enterostomy and their families has been gaining popularity in China.Objective:To evaluate the feasibility of continuous care for children with enterostomy and their families in China.Methods:The PubMed,Web of Science,Embase,Cochrane Library,EBSCO,CNKI,CBM,VIP,and WanFang were searched for clinical trials until December 30,2025.Two reviewers independently searched articles,evaluated quality and extracted data.This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA).Results:33 studies involving 2774 participants were included.The meta-analysis showed that continuous care strategy can significantly reduce the incidence of complications in children with enterostomy(OR=0.20,95%CI=0.16-0.26,p<0.001,I2=0%),effectively improve the family caregiver ability for enterostomy(MD=-10.34,95%CI=-13.82 to-6.85,p<0.001,I2=99%),shorten the time for family members to replace stoma bags(MD=-13.57,95%CI=-19.66 to-7.49,p<0.001,I2=100%),and alleviate negative emotions such as anxiety(SMD=-1.80,95%CI=-2.36 to-1.23,p<0.001,I2=92%)and depression(SMD=-1.54,95%CI=-2.04 to-1.04,p<0.001,I2=89%)in the families of the affected children.Conclusions:Continuous care can reduce complications of enterostomy in children,improve the family caregiver ability for enterostomy and alleviate negative emotions of family members such as anxiety and depression.展开更多
The growing recognition of the role of genetics in the development of amyotrophic lateral sclerosis is evident.However,there has yet to be a comprehensive analysis of the clinical characteristics and genetics of famil...The growing recognition of the role of genetics in the development of amyotrophic lateral sclerosis is evident.However,there has yet to be a comprehensive analysis of the clinical characteristics and genetics of familial amyotrophic lateral sclerosis in an Asian population.This study aimed to provide an in-depth analysis of the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinic-based cohort of patients from the Chinese mainland.Enrollment of 302 amyotrophic lateral sclerosis families from 28 provinces was undertaken from January 2008 to September 2023.A group-based trajectory model for disease progression based on amyotrophic lateral sclerosis Functional Rating Scale-Revised(ALSFRS-R)scores was validated using bootstrap internal validation in patients with familial amyotrophic lateral sclerosis,as well as patients with sporadic amyotrophic lateral sclerosis(matched at a 1:4 ratio,with replacement).DNA samples from 244 index patients were screened for variants in the pathogenic genes SOD1,FUS,TDP43,and C9ORF72,of which 146 were also subjected to genome-wide next-generation sequencing.Gene-level burden analysis was used to evaluate the distribution of rare variants in the cohort.We found that rapid dynamic disease progression was associated with an older age at onset,shorter diagnostic delay,lower body mass index,bulbar onset,and≥1 affected first-degree relative.Certain attributes,such as age at onset and time from onset to diagnosis,had comparable impacts on the clinical progression trajectories of both familial amyotrophic lateral sclerosis and sporadic amyotrophic lateral sclerosis.Harboring pathogenic/likely pathogenic variants in amyotrophic lateral sclerosis-causative genes reduced the age of onset of familial amyotrophic lateral sclerosis.Among the patients with familial amyotrophic lateral sclerosis,17.8%possessed≥2 pathogenic/likely pathogenic variants.Sequencing kernel association test analysis showed that the SOD1 rare variant burden(P=1.3e-15)was associated with a significant risk of familial amyotrophic lateral sclerosis.Our findings conclusively confirmed the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinical cohort from China,contributing to a deeper understanding of genotype-phenotype relationships in familial amyotrophic lateral sclerosis.This comprehensive evaluation of specific clinical characteristics,clinical prognosis,and genetic variants of amyotrophic lateral sclerosis based on detailed clinical and genetic information may lead to the development of genotype-specific treatment approaches.展开更多
AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia...AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia,nystagmus,corneal opacity,and keratopathy were included.Genetic analysis was carried out by Target Panel Sequencing,and the nucleotide variant was confirmed by Sanger sequencing.In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid(mRNA).RESULTS:Target panel sequencing revealed that the afflicted family members carried a novel frameshift mutation(NM_145178.4;c.91del G;p.Gly31Glyfs*55)that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.In silico studies predicted that the activity of the ATOH7 gene is probably affected by this mutation,which results in a shortened and nonfunctional protein.Three-dimensional structural analysis shows that DNA binding may be impacted by amino acid changes from non-polar to positively charged and vice versa(Arg42Pro and Pro18Arg),as well as from positively charged(Arg)to a small polar amino acid(Gly).CONCLUSION:A novel ATOH7 mutation is harmful.This study also emphasizes the potential effects of modified ATOH7 configurations on the stability and functionality of proteins.展开更多
To investigate the genetic variation patterns of multiple traits in Pinus sibirica half_sibling families introduced to the Greater Khingan Range,this study aims to establish a comprehensive trait evaluation system bas...To investigate the genetic variation patterns of multiple traits in Pinus sibirica half_sibling families introduced to the Greater Khingan Range,this study aims to establish a comprehensive trait evaluation system based on genetic parameters and identify fast-growing,high-quality genetic materials.The findings provide scientific support for advanced-generation seed orchard development and multiobjective genetic improvement.A total of 66 half-sibling families from a 26-year-old trial plantation of the Tomsk seed source were evaluated.Eleven traits were measured,including growth traits(tree height,diameter at breast height,volume,and crown width),morphological traits(lateral branch diameter),wood quality traits(Pilodyn value),and needle traits(fresh weight,dry weight,moisture content,needle length,and needle width).Genetic parameters were estimated using variance component decomposition.Superior families with favorable performance in both growth and wood density traits were identified using Best Linear Unbiased Prediction(BLUP)weighted by genetic correla-tion coefficients.Additionally,individual tree selection was conducted based on growth traits using the index selection method.Significant genetic differences among families(Z ratio>1.50)were observed for 10 traits,including growth,wood density,and needle traits.The phenotypic coefficient of variation(PCV:5.05%-62.50%)and genetic coefficient of variation(GCV:2.19%-13.81%)exhibited substantial heterogeneity.Volume displayed the highest variation(PCV=62.50%,GCV=13.81%),while the highest family heritability was observed for the needle length-to-width ratio(h^(2)=78.30%),and the highest individual heritability was rec-orded for needle moisture content(H^(2)=95.22%).Genetic correlations analysis revealed strong positive associ-ations between volume and tree height(r=0.880),diameter at br-east height(r=0.968),and Pilodyn value(r=0.508).Using the BLUP method,13 superior families(e.g.,Families 59,11 and 51)were identified,with an average genetic gain in volume of 13.377%and a family retention rate of 70%,significantly exceeding the population mean(65.10%).Th-rough index selection,94 elite individual trees were selected,52.14%of which originated from superior families.The genetic gain in individual tree volume reached 26.80%,with the within family gain for elite individuals increasing to 28.47%.This study establishes the first multitrait genetic evaluation model for P.sibirica and proposes a“familyindividual”collaborative selection strategy.The selected superior families achieved avolume genetic gain of 3.864%-32.307%and an overall geneticgain of 2.729%-20.069%,while elite individual trees exhibited a volume genetic gain of 16.328%-52.716%.These findings would provide critical technical support for multi-objective breeding and seed orchard development in cold-temperate coniferous species.展开更多
Objective:To investigate the efficacy of a tripartite collaborative nursing intervention in enhancing resilience among families of pediatric leukemia patients.Methods:Based on Walsh’s family resilience theory and col...Objective:To investigate the efficacy of a tripartite collaborative nursing intervention in enhancing resilience among families of pediatric leukemia patients.Methods:Based on Walsh’s family resilience theory and collaborative nursing principles,and after reviewing a large amount of literature,a tripartite intervention was constructed,which was led by the nursing team,coordinated by medical social workers,and supported by volunteers.Caregivers of pediatric hematology inpatients at a tertiary-level Class A hospital were selected as research subjects.which were divided into a control group(n=30)and an experimental group(n=30)according to a randomized block design.The control group are treated with standard nursing care,which included health education,counseling,and psychological support from nurses.The experimental group,in addition,was provided with a tripartite collaborative nursing intervention for 3 months.Results:The family resilience level,social support,and family function scores of the experimental group were higher than those of the control group,and the differences were statistically significant(P≤0.05).Conclusion:The implementation of tripartite collaborative nursing intervention improves the resilience of families of children suffered from leukemia.展开更多
Objectives This study aimed to clarify the relationship between the content of proxy decision-making made by families of patients with malignant brain tumors regarding treatment policies and daily care and the cues le...Objectives This study aimed to clarify the relationship between the content of proxy decision-making made by families of patients with malignant brain tumors regarding treatment policies and daily care and the cues leading to those decisions.Methods Semi-structured personal interviews were used to collect data.Seven family members of patients with malignant brain tumors were selected to participate in the study by purposive sampling method from June to August 2022 in the Patient Family Association of Japan.Responses were content analyzed to explore the relationship between the content of decisions regarding“treatment policies”and“daily care”and the cues influencing those decisions.Semi-structured interviews were analyzed by using thematic analysis.Results The contents of proxy decisions regarding“treatment policies”included implementation,interruption,and termination of initial treatments,free medical treatments,use of respirators,and end-of-life sedation and included six cues:treatment policies suggested by the primary physician,information and knowledge about the disease and treatment obtained by the family from limited resources,perceived life threat from symptom worsening,words and reactions from the patient regarding treatment,patient’s personality and way of life inferred from their treatment preferences,family’s thoughts and values hoping for better treatment for the patient.Decisions for“daily care”included meal content and methods,excretion,mobility,maintaining cleanliness,rehabilitation,continuation or resignation from work,treatment settings(outpatient or inpatient),and ways to spend time outside and included seven cues:words and thoughts from the patient about their way of life,patient’s reactions and life history inferred from their preferred way of living,things the patient can do to maintain daily life and roles,awareness of the increasing inability to do things in daily life,family’s underlying thoughts and values about how to spend the remaining time,approval from family members regarding the care setting,advice from medical professionals on living at home.Conclusions For“treatment policies,”guidelines from medical professionals were a key cue,while for“daily care,”the small signs from the patients in their daily lives served as cues for proxy decision-making.This may be due to the lack of information available to families and the limited time available for discussion with the patient.Families of patients with malignant brain tumors repeatedly use multiple cues to make proxy decision-making under high uncertainty.Therefore,nurses supporting proxy decision-making should assess the family’s situation and provide cues that facilitate informed and confident decisions.展开更多
In this paper we propose an absolute error loss EB estimator for parameter of one-side truncation distribution families. Under some conditions we have proved that the convergence rates of its Bayes risk is o, where 0&...In this paper we propose an absolute error loss EB estimator for parameter of one-side truncation distribution families. Under some conditions we have proved that the convergence rates of its Bayes risk is o, where 0<λ,r≤1,Mn≤lnln n (for large n),Mn→∞ as n→∞.展开更多
Many eukaryotic genes are members of multi-gene families due to gene duplications, which generate new copies that allow functional divergence. However, the relationship between
Genetic parameters were evaluated for growth and cone characteristics(tree height,diameter at breast height,volume,cone number,thousand seeds weight and single cone seeds weight)on 86 half-sib families of Pinus koraie...Genetic parameters were evaluated for growth and cone characteristics(tree height,diameter at breast height,volume,cone number,thousand seeds weight and single cone seeds weight)on 86 half-sib families of Pinus koraiensis aged 31 years.Analyses of variance revealed significant differences(p<0.001)in all growth and cone traits among families while no significant differences were detected among blocks and the interaction between blocks and families.The average family values for growth traits were 17.22 m,8.67 cm and 0.43 m^(3) for tree height,diameter at breast height and volume,respectively.The average cone number,thousand seeds weight and single cone seeds weight were 17.57,748.91 g and 77.25 g,respectively.Genotypic additive variance and phenotypic variances ranged from 0.00009 to 3.820 and from 0.0005 to 23.066,while genotypic and phenotypic coefficients of variation ranged from 2.693%to 37.196%and 4.963%to 60.595%,respectively.Heritability at the individual and family level ranged from 0.152 to 0.215 and 0.611 to 0.862,respectively.Growth traits were significantly positively correlated with each other,but cone traits showed a weak correlation with growth traits.Based on 10% selection rate,nine families each were selected as elite materials in terms of high performance in volume and cone numbers,with 22.16%and 43.82%genetic gain in volume and cone number,respectively.These results provide beneficial information to select excellent families and establish orchards of P.koraiensis from improved seeds.展开更多
As an important approach for relieving conflicts between ecosystems and human activities in the Tianchi Scenic Area, Xinjiang of China, an ecological migration policy was implemented, aiming to improve the regional ec...As an important approach for relieving conflicts between ecosystems and human activities in the Tianchi Scenic Area, Xinjiang of China, an ecological migration policy was implemented, aiming to improve the regional ecological environment. The case of resettlement was closely related to the smooth implementation of the migration project. Based on the questionnaires and farmer family interviews, both changes in the ecological environment and the living conditions of migrant farmer families in the Tianchi Scenic Area were investigated in this study. The objectives were to assess the benefits of the ecological migration policy and to analyze the effects of ecological migration on migrant farmer families. The results showed that （1） awareness of the need for ecological environmental protection and the types of migrant families had a great influence on the willingness to migration; （2） since the implementation of the ecological migration project, the ecological environment in the Tianchi Scenic Area had improved significantly, particutarly in terms of returning farmland to forestry, while pressures on grassland had also been relieved to some extent; （3） the major income sources and occupations of the migrant farmer families changed, the range of their income sources declined, and their per capita incomes decreased at different degrees; and （4） nearly half of the farmer families were not satisfied with the living environment of new settlements and the decline in the quality of life had significant influences on the attitudes of migrants. In order to ensure the successful implementation of an ecological migration project, it is essential to enhance farmer awareness of needs for ecological environmental protection, and to solve resettlement problems properly.展开更多
The seedling height and ground diameter of 42 half-sib families of biennial Cyclobalanopsis glauca were investigated and compared. The results showed that there were extremely significant differences between different...The seedling height and ground diameter of 42 half-sib families of biennial Cyclobalanopsis glauca were investigated and compared. The results showed that there were extremely significant differences between different families in the terms of seedling height and ground diameter. According to the seedling height and ground diameter, families 39, 27, 28 and 19 of C. glauca were superior to other families at the seedling stage.展开更多
The actions of the Hamiltonian constraint onto the members of the extended knot families {φi}2^2, {φi}3^4 and {φi}4^6, and the check of their invariance under the Mandelstam identities are given in the extended loo...The actions of the Hamiltonian constraint onto the members of the extended knot families {φi}2^2, {φi}3^4 and {φi}4^6, and the check of their invariance under the Mandelstam identities are given in the extended loop representation of loop quantum gravity.展开更多
This article gives a normal criterion for families of holomorphic mappings of several complex variables into P N(C)for moving hypersurfaces in pointwise general position,related to an Eremenko’s theorem.
This paper is concerned with the convergence rates of ergodic limits and approximation for regularized resolvent families for a linear Volterra integral equation. The results contain C 0-semigroups, cosine operator fu...This paper is concerned with the convergence rates of ergodic limits and approximation for regularized resolvent families for a linear Volterra integral equation. The results contain C 0-semigroups, cosine operator functions and α-times integrated resolvent family as special cases.展开更多
Objective： The aim of the study was to observe the expressions of genes related to genome stability and DNA repair in the members of nasopharyngeal carcinoma （NPC） clustedng families. Methods： In the Zhongshan Cit...Objective： The aim of the study was to observe the expressions of genes related to genome stability and DNA repair in the members of nasopharyngeal carcinoma （NPC） clustedng families. Methods： In the Zhongshan City where there is highly incidence rate of NPC, we chose the members of the NPC clustering families as objects, and the patients of nasopharyngitis and NPC as the control group. We isolated the RNA from the nasopharyngeal tissue, and synthesized its cRNA, the genome stability and DNA repair genes chip technique, chemiluminescent detection and real-time fluorescence quantita- tive technique were used to examine the genome stability and DNA repair genes in the nasopharyngeal tissue. Results： More genome stability and DNA repair genes were up-regulated in the members of the NPC clustering families than the NPC patients, and the range of up-regulated was high, with the over up-regulated 100 times genes including TEP1, MSH4, PMS2LI. Fewer genome stability and DNA repair genes were down-regulated in the members of the NPC clustering families than the NPC patients, the ubiquitin genes almost were down-regulated, the results also could be confirmed by real-time fluorescence quantitative PCR. Conclusion： There are specially expression character of genome stability and DNA repair genes in the members of NPC clustering families.展开更多
In the paper N0II, we describe some isomorphism classes and we apply their properties to the study of five crystal families of space E5. The names of these families are the following ones (monoclinic di iso squares)-a...In the paper N0II, we describe some isomorphism classes and we apply their properties to the study of five crystal families of space E5. The names of these families are the following ones (monoclinic di iso squares)-al, decadic-al, (monoclinic di iso hexagons)-al, (rhombotopic cosa=-1/4)-al and rhombotopic cosa=-1/5. The meaning of these names will be given in Paragraphs 5 and 6 with some geometric properties of their cell.展开更多
The study focused on the impacts of climate change on the farmer and the farming families in Niger Delta Region of Nigeria. The study specifically evaluated the perceived resultant situations attributed to climate cha...The study focused on the impacts of climate change on the farmer and the farming families in Niger Delta Region of Nigeria. The study specifically evaluated the perceived resultant situations attributed to climate change to determine the extent of impacts of climate change on the farmer and the farming families and also explored adoptable strategies for coping with the situations. The study adopted descriptive survey research design. Two research questions and two hypotheses guided the study. The population for the study was 246,909 respondents made up of farmers and extension workers who are registered with the State Ministries of Agriculture. Out of the nine Niger Delta states, Bayelsa and Delta states were randomly chosen for the study. Proportionate stratified random sampling technique was used to select a sample size of 5,038 respondents. Structured questionnaire and interview were used to collect data. The instruments were validated by three experts. Cronbach Alpha method was used to determine the internal consistency of the questionnaire items which yielded a coefficient of 0.81. The Statistical Product and Service Solutions (SPSS v 20.0) was employed for data analysis. The statistical tools used for data analysis were weighted mean to answer research questions and standard deviation to validate the closeness of the respondents from the mean and from each other in their responses while t-test was used to test the null hypotheses. The findings of the study revealed that the extent of impacts of climate change on farmers and the farming families in Niger Delta region of Nigeria are moderate. Findings further revealed that climate change has led to increased poverty level and raised cost of production (input and labour cost) as indicated by the farmers. The study recommends that farmers in the region should be encouraged by providing incentives and subsidizing inputs for them by Federal and State governments as well as other non-governmental organizations, as this will go a long way in improving production especially as most farmers agree to continue cultivation even with the observed impacts.展开更多
Background: In 2017, the elderly made up 27.3% of Japan’s population, accounting for 57.2% of all ambulance trips. When an elderly person is in a critical life situation, it is difficult to ascertain their decisions ...Background: In 2017, the elderly made up 27.3% of Japan’s population, accounting for 57.2% of all ambulance trips. When an elderly person is in a critical life situation, it is difficult to ascertain their decisions about treatment choices, and for family members who become surrogate decision-makers, this is a grave responsibility. Aim: This study aimed to shed light on the constructs that support decision-making by family members and medical staff in critical situations, and to investigate decision-making by families of the elderly in critical situations. Method: We selected 29 papers published in Japan and elsewhere that focused on families involved in treatment decisions in critical life situations and analyzed them using Rodgers’ concept analysis approach. Results: From 475 codes, we extracted six attributes, four antecedents, and four consequences. The unusual setting of the “critical care unit”, lack of time, and unstable psychological state are all considered by family members making treatment decisions, along with the patient’s prognosis, their relationship with the patient, conjecture about the patient’s wishes, and taking other family member’s views into account. Medical staff supports the family throughout the process, through provision of treatment, preparing family members to face reality, empathizing with the difficulty of decision-making, building relationships with family members, monitoring the decision-making process, and being attentive to family members’ feelings until the end. Conclusion: Our results indicate the importance of advance confirmation of patients’ wishes, and the role played by cultural context and family relations in decision-making by family members of the elderly.展开更多
The sale of products using the android Operation System (OS) phone is increasing in rate: the fact is that its price is cheaper but its configured hardware is higher, users easily buy it and the approach to this produ...The sale of products using the android Operation System (OS) phone is increasing in rate: the fact is that its price is cheaper but its configured hardware is higher, users easily buy it and the approach to this product increases the risk of the spread of mobile malware. The understanding of majority of the users of this mobile malware is still limited. While they are growing at a faster speed in the number and level of sophistication, especially their variations have created confusion for users;therefore worrying about the safety of its users is required. In this paper, the author discussed the identification and analysis of malware families on Android Mobiles. The author selected the recognizable characteristics from ordinary users with their families collected from 58 malware families and 1485 malware samples and proposed solutions as recommendations to users before installing it with the ultimate desire to mitigate the damage in the community that is on the android phone, especially the ordinary users with limited understanding about potential hazards. It would be helpful for the ordinary users to identify the mobile malware in order to mitigate the information security risk.展开更多
文摘Background:Continuous care for children with enterostomy and their families has been gaining popularity in China.Objective:To evaluate the feasibility of continuous care for children with enterostomy and their families in China.Methods:The PubMed,Web of Science,Embase,Cochrane Library,EBSCO,CNKI,CBM,VIP,and WanFang were searched for clinical trials until December 30,2025.Two reviewers independently searched articles,evaluated quality and extracted data.This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA).Results:33 studies involving 2774 participants were included.The meta-analysis showed that continuous care strategy can significantly reduce the incidence of complications in children with enterostomy(OR=0.20,95%CI=0.16-0.26,p<0.001,I2=0%),effectively improve the family caregiver ability for enterostomy(MD=-10.34,95%CI=-13.82 to-6.85,p<0.001,I2=99%),shorten the time for family members to replace stoma bags(MD=-13.57,95%CI=-19.66 to-7.49,p<0.001,I2=100%),and alleviate negative emotions such as anxiety(SMD=-1.80,95%CI=-2.36 to-1.23,p<0.001,I2=92%)and depression(SMD=-1.54,95%CI=-2.04 to-1.04,p<0.001,I2=89%)in the families of the affected children.Conclusions:Continuous care can reduce complications of enterostomy in children,improve the family caregiver ability for enterostomy and alleviate negative emotions of family members such as anxiety and depression.
基金supported by the Natural Science Foundation of Beijing,Nos.7244428(to WZ)and 7222215(to JH)the Peking University Medicine Sailing Program forYoung Scholars’Scientific and Technological Innovation,No.BMU2023YFJHPY034(to WZ)+4 种基金the National Natural Science Foundation of China,Nos.81873784,82071426(to DF),and81974197(to JH)the Clinical Cohort Construction Program of Peking University Third Hospital,No.BYSYDL2019002(to DF)Beijing Physician-Scientist TrainingProgram,No.BJPSTP-2024-03(to JH)the China Postdoctoral Science Foundation,Nos.2022TQ0014(to LX),2022M720284(to LX)the E-Town Cooperation&Development Foundation,No.YCXJ-JZ-2023-017(to LX).
文摘The growing recognition of the role of genetics in the development of amyotrophic lateral sclerosis is evident.However,there has yet to be a comprehensive analysis of the clinical characteristics and genetics of familial amyotrophic lateral sclerosis in an Asian population.This study aimed to provide an in-depth analysis of the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinic-based cohort of patients from the Chinese mainland.Enrollment of 302 amyotrophic lateral sclerosis families from 28 provinces was undertaken from January 2008 to September 2023.A group-based trajectory model for disease progression based on amyotrophic lateral sclerosis Functional Rating Scale-Revised(ALSFRS-R)scores was validated using bootstrap internal validation in patients with familial amyotrophic lateral sclerosis,as well as patients with sporadic amyotrophic lateral sclerosis(matched at a 1:4 ratio,with replacement).DNA samples from 244 index patients were screened for variants in the pathogenic genes SOD1,FUS,TDP43,and C9ORF72,of which 146 were also subjected to genome-wide next-generation sequencing.Gene-level burden analysis was used to evaluate the distribution of rare variants in the cohort.We found that rapid dynamic disease progression was associated with an older age at onset,shorter diagnostic delay,lower body mass index,bulbar onset,and≥1 affected first-degree relative.Certain attributes,such as age at onset and time from onset to diagnosis,had comparable impacts on the clinical progression trajectories of both familial amyotrophic lateral sclerosis and sporadic amyotrophic lateral sclerosis.Harboring pathogenic/likely pathogenic variants in amyotrophic lateral sclerosis-causative genes reduced the age of onset of familial amyotrophic lateral sclerosis.Among the patients with familial amyotrophic lateral sclerosis,17.8%possessed≥2 pathogenic/likely pathogenic variants.Sequencing kernel association test analysis showed that the SOD1 rare variant burden(P=1.3e-15)was associated with a significant risk of familial amyotrophic lateral sclerosis.Our findings conclusively confirmed the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinical cohort from China,contributing to a deeper understanding of genotype-phenotype relationships in familial amyotrophic lateral sclerosis.This comprehensive evaluation of specific clinical characteristics,clinical prognosis,and genetic variants of amyotrophic lateral sclerosis based on detailed clinical and genetic information may lead to the development of genotype-specific treatment approaches.
文摘AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia,nystagmus,corneal opacity,and keratopathy were included.Genetic analysis was carried out by Target Panel Sequencing,and the nucleotide variant was confirmed by Sanger sequencing.In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid(mRNA).RESULTS:Target panel sequencing revealed that the afflicted family members carried a novel frameshift mutation(NM_145178.4;c.91del G;p.Gly31Glyfs*55)that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.In silico studies predicted that the activity of the ATOH7 gene is probably affected by this mutation,which results in a shortened and nonfunctional protein.Three-dimensional structural analysis shows that DNA binding may be impacted by amino acid changes from non-polar to positively charged and vice versa(Arg42Pro and Pro18Arg),as well as from positively charged(Arg)to a small polar amino acid(Gly).CONCLUSION:A novel ATOH7 mutation is harmful.This study also emphasizes the potential effects of modified ATOH7 configurations on the stability and functionality of proteins.
基金funded by the Key Science and Technology Program of the State Forestry Administration(Project No.:2001-31(1))the Scientific Research Project of Greater Khingan Range Forestry Group Co.,Ltd.(Project No.:s2023001)。
文摘To investigate the genetic variation patterns of multiple traits in Pinus sibirica half_sibling families introduced to the Greater Khingan Range,this study aims to establish a comprehensive trait evaluation system based on genetic parameters and identify fast-growing,high-quality genetic materials.The findings provide scientific support for advanced-generation seed orchard development and multiobjective genetic improvement.A total of 66 half-sibling families from a 26-year-old trial plantation of the Tomsk seed source were evaluated.Eleven traits were measured,including growth traits(tree height,diameter at breast height,volume,and crown width),morphological traits(lateral branch diameter),wood quality traits(Pilodyn value),and needle traits(fresh weight,dry weight,moisture content,needle length,and needle width).Genetic parameters were estimated using variance component decomposition.Superior families with favorable performance in both growth and wood density traits were identified using Best Linear Unbiased Prediction(BLUP)weighted by genetic correla-tion coefficients.Additionally,individual tree selection was conducted based on growth traits using the index selection method.Significant genetic differences among families(Z ratio>1.50)were observed for 10 traits,including growth,wood density,and needle traits.The phenotypic coefficient of variation(PCV:5.05%-62.50%)and genetic coefficient of variation(GCV:2.19%-13.81%)exhibited substantial heterogeneity.Volume displayed the highest variation(PCV=62.50%,GCV=13.81%),while the highest family heritability was observed for the needle length-to-width ratio(h^(2)=78.30%),and the highest individual heritability was rec-orded for needle moisture content(H^(2)=95.22%).Genetic correlations analysis revealed strong positive associ-ations between volume and tree height(r=0.880),diameter at br-east height(r=0.968),and Pilodyn value(r=0.508).Using the BLUP method,13 superior families(e.g.,Families 59,11 and 51)were identified,with an average genetic gain in volume of 13.377%and a family retention rate of 70%,significantly exceeding the population mean(65.10%).Th-rough index selection,94 elite individual trees were selected,52.14%of which originated from superior families.The genetic gain in individual tree volume reached 26.80%,with the within family gain for elite individuals increasing to 28.47%.This study establishes the first multitrait genetic evaluation model for P.sibirica and proposes a“familyindividual”collaborative selection strategy.The selected superior families achieved avolume genetic gain of 3.864%-32.307%and an overall geneticgain of 2.729%-20.069%,while elite individual trees exhibited a volume genetic gain of 16.328%-52.716%.These findings would provide critical technical support for multi-objective breeding and seed orchard development in cold-temperate coniferous species.
基金Hubei Provincial Department of Education Humanities and Social Sciences Youth Project(Project No.:19Q137)Hubei Provincial Department of Education Humanities and Social Sciences Youth Project(Project No.:23Q183)。
文摘Objective:To investigate the efficacy of a tripartite collaborative nursing intervention in enhancing resilience among families of pediatric leukemia patients.Methods:Based on Walsh’s family resilience theory and collaborative nursing principles,and after reviewing a large amount of literature,a tripartite intervention was constructed,which was led by the nursing team,coordinated by medical social workers,and supported by volunteers.Caregivers of pediatric hematology inpatients at a tertiary-level Class A hospital were selected as research subjects.which were divided into a control group(n=30)and an experimental group(n=30)according to a randomized block design.The control group are treated with standard nursing care,which included health education,counseling,and psychological support from nurses.The experimental group,in addition,was provided with a tripartite collaborative nursing intervention for 3 months.Results:The family resilience level,social support,and family function scores of the experimental group were higher than those of the control group,and the differences were statistically significant(P≤0.05).Conclusion:The implementation of tripartite collaborative nursing intervention improves the resilience of families of children suffered from leukemia.
文摘Objectives This study aimed to clarify the relationship between the content of proxy decision-making made by families of patients with malignant brain tumors regarding treatment policies and daily care and the cues leading to those decisions.Methods Semi-structured personal interviews were used to collect data.Seven family members of patients with malignant brain tumors were selected to participate in the study by purposive sampling method from June to August 2022 in the Patient Family Association of Japan.Responses were content analyzed to explore the relationship between the content of decisions regarding“treatment policies”and“daily care”and the cues influencing those decisions.Semi-structured interviews were analyzed by using thematic analysis.Results The contents of proxy decisions regarding“treatment policies”included implementation,interruption,and termination of initial treatments,free medical treatments,use of respirators,and end-of-life sedation and included six cues:treatment policies suggested by the primary physician,information and knowledge about the disease and treatment obtained by the family from limited resources,perceived life threat from symptom worsening,words and reactions from the patient regarding treatment,patient’s personality and way of life inferred from their treatment preferences,family’s thoughts and values hoping for better treatment for the patient.Decisions for“daily care”included meal content and methods,excretion,mobility,maintaining cleanliness,rehabilitation,continuation or resignation from work,treatment settings(outpatient or inpatient),and ways to spend time outside and included seven cues:words and thoughts from the patient about their way of life,patient’s reactions and life history inferred from their preferred way of living,things the patient can do to maintain daily life and roles,awareness of the increasing inability to do things in daily life,family’s underlying thoughts and values about how to spend the remaining time,approval from family members regarding the care setting,advice from medical professionals on living at home.Conclusions For“treatment policies,”guidelines from medical professionals were a key cue,while for“daily care,”the small signs from the patients in their daily lives served as cues for proxy decision-making.This may be due to the lack of information available to families and the limited time available for discussion with the patient.Families of patients with malignant brain tumors repeatedly use multiple cues to make proxy decision-making under high uncertainty.Therefore,nurses supporting proxy decision-making should assess the family’s situation and provide cues that facilitate informed and confident decisions.
文摘In this paper we propose an absolute error loss EB estimator for parameter of one-side truncation distribution families. Under some conditions we have proved that the convergence rates of its Bayes risk is o, where 0<λ,r≤1,Mn≤lnln n (for large n),Mn→∞ as n→∞.
文摘Many eukaryotic genes are members of multi-gene families due to gene duplications, which generate new copies that allow functional divergence. However, the relationship between
基金supported by the National Natural Science Foundation of China (61071189)Innovation Scientists and Technicians Troop Construction of Henan Province of China (084100510012)the Natural Science Foundation for the Education Department of Henan Province of China (2008B510001)
文摘In this paper, a characterization of orthonormal wavelet families in Sobolev spaces H s （R） is established.
基金We are grateful to the Applied Technology Research and Development Planned Program of Heilongjiang Province(GA19B201-4)for supporting this research.
文摘Genetic parameters were evaluated for growth and cone characteristics(tree height,diameter at breast height,volume,cone number,thousand seeds weight and single cone seeds weight)on 86 half-sib families of Pinus koraiensis aged 31 years.Analyses of variance revealed significant differences(p<0.001)in all growth and cone traits among families while no significant differences were detected among blocks and the interaction between blocks and families.The average family values for growth traits were 17.22 m,8.67 cm and 0.43 m^(3) for tree height,diameter at breast height and volume,respectively.The average cone number,thousand seeds weight and single cone seeds weight were 17.57,748.91 g and 77.25 g,respectively.Genotypic additive variance and phenotypic variances ranged from 0.00009 to 3.820 and from 0.0005 to 23.066,while genotypic and phenotypic coefficients of variation ranged from 2.693%to 37.196%and 4.963%to 60.595%,respectively.Heritability at the individual and family level ranged from 0.152 to 0.215 and 0.611 to 0.862,respectively.Growth traits were significantly positively correlated with each other,but cone traits showed a weak correlation with growth traits.Based on 10% selection rate,nine families each were selected as elite materials in terms of high performance in volume and cone numbers,with 22.16%and 43.82%genetic gain in volume and cone number,respectively.These results provide beneficial information to select excellent families and establish orchards of P.koraiensis from improved seeds.
基金funded by the National Natural Science Foundation of China (40801065)the Dr.Western-funded projects of Chinese Academy of Sciences (XBBS 200803)
文摘As an important approach for relieving conflicts between ecosystems and human activities in the Tianchi Scenic Area, Xinjiang of China, an ecological migration policy was implemented, aiming to improve the regional ecological environment. The case of resettlement was closely related to the smooth implementation of the migration project. Based on the questionnaires and farmer family interviews, both changes in the ecological environment and the living conditions of migrant farmer families in the Tianchi Scenic Area were investigated in this study. The objectives were to assess the benefits of the ecological migration policy and to analyze the effects of ecological migration on migrant farmer families. The results showed that （1） awareness of the need for ecological environmental protection and the types of migrant families had a great influence on the willingness to migration; （2） since the implementation of the ecological migration project, the ecological environment in the Tianchi Scenic Area had improved significantly, particutarly in terms of returning farmland to forestry, while pressures on grassland had also been relieved to some extent; （3） the major income sources and occupations of the migrant farmer families changed, the range of their income sources declined, and their per capita incomes decreased at different degrees; and （4） nearly half of the farmer families were not satisfied with the living environment of new settlements and the decline in the quality of life had significant influences on the attitudes of migrants. In order to ensure the successful implementation of an ecological migration project, it is essential to enhance farmer awareness of needs for ecological environmental protection, and to solve resettlement problems properly.
基金Supported by Special Scientific Research Project for Forestry Public Welfare Industry(201504301)
文摘The seedling height and ground diameter of 42 half-sib families of biennial Cyclobalanopsis glauca were investigated and compared. The results showed that there were extremely significant differences between different families in the terms of seedling height and ground diameter. According to the seedling height and ground diameter, families 39, 27, 28 and 19 of C. glauca were superior to other families at the seedling stage.
文摘The actions of the Hamiltonian constraint onto the members of the extended knot families {φi}2^2, {φi}3^4 and {φi}4^6, and the check of their invariance under the Mandelstam identities are given in the extended loop representation of loop quantum gravity.
基金supported in part by the National Natural Science Foundation of China(10371091)
文摘This article gives a normal criterion for families of holomorphic mappings of several complex variables into P N(C)for moving hypersurfaces in pointwise general position,related to an Eremenko’s theorem.
基金This project is supported by the Special Funds for Major Specialties of Shanghai Education Committee and the Natural Foundation ofShanghai City.
文摘This paper is concerned with the convergence rates of ergodic limits and approximation for regularized resolvent families for a linear Volterra integral equation. The results contain C 0-semigroups, cosine operator functions and α-times integrated resolvent family as special cases.
基金Supported by a grant from the National Natural Science Foundation of China (No.30672713)
文摘Objective： The aim of the study was to observe the expressions of genes related to genome stability and DNA repair in the members of nasopharyngeal carcinoma （NPC） clustedng families. Methods： In the Zhongshan City where there is highly incidence rate of NPC, we chose the members of the NPC clustering families as objects, and the patients of nasopharyngitis and NPC as the control group. We isolated the RNA from the nasopharyngeal tissue, and synthesized its cRNA, the genome stability and DNA repair genes chip technique, chemiluminescent detection and real-time fluorescence quantita- tive technique were used to examine the genome stability and DNA repair genes in the nasopharyngeal tissue. Results： More genome stability and DNA repair genes were up-regulated in the members of the NPC clustering families than the NPC patients, and the range of up-regulated was high, with the over up-regulated 100 times genes including TEP1, MSH4, PMS2LI. Fewer genome stability and DNA repair genes were down-regulated in the members of the NPC clustering families than the NPC patients, the ubiquitin genes almost were down-regulated, the results also could be confirmed by real-time fluorescence quantitative PCR. Conclusion： There are specially expression character of genome stability and DNA repair genes in the members of NPC clustering families.
文摘In the paper N0II, we describe some isomorphism classes and we apply their properties to the study of five crystal families of space E5. The names of these families are the following ones (monoclinic di iso squares)-al, decadic-al, (monoclinic di iso hexagons)-al, (rhombotopic cosa=-1/4)-al and rhombotopic cosa=-1/5. The meaning of these names will be given in Paragraphs 5 and 6 with some geometric properties of their cell.
文摘The study focused on the impacts of climate change on the farmer and the farming families in Niger Delta Region of Nigeria. The study specifically evaluated the perceived resultant situations attributed to climate change to determine the extent of impacts of climate change on the farmer and the farming families and also explored adoptable strategies for coping with the situations. The study adopted descriptive survey research design. Two research questions and two hypotheses guided the study. The population for the study was 246,909 respondents made up of farmers and extension workers who are registered with the State Ministries of Agriculture. Out of the nine Niger Delta states, Bayelsa and Delta states were randomly chosen for the study. Proportionate stratified random sampling technique was used to select a sample size of 5,038 respondents. Structured questionnaire and interview were used to collect data. The instruments were validated by three experts. Cronbach Alpha method was used to determine the internal consistency of the questionnaire items which yielded a coefficient of 0.81. The Statistical Product and Service Solutions (SPSS v 20.0) was employed for data analysis. The statistical tools used for data analysis were weighted mean to answer research questions and standard deviation to validate the closeness of the respondents from the mean and from each other in their responses while t-test was used to test the null hypotheses. The findings of the study revealed that the extent of impacts of climate change on farmers and the farming families in Niger Delta region of Nigeria are moderate. Findings further revealed that climate change has led to increased poverty level and raised cost of production (input and labour cost) as indicated by the farmers. The study recommends that farmers in the region should be encouraged by providing incentives and subsidizing inputs for them by Federal and State governments as well as other non-governmental organizations, as this will go a long way in improving production especially as most farmers agree to continue cultivation even with the observed impacts.
文摘Background: In 2017, the elderly made up 27.3% of Japan’s population, accounting for 57.2% of all ambulance trips. When an elderly person is in a critical life situation, it is difficult to ascertain their decisions about treatment choices, and for family members who become surrogate decision-makers, this is a grave responsibility. Aim: This study aimed to shed light on the constructs that support decision-making by family members and medical staff in critical situations, and to investigate decision-making by families of the elderly in critical situations. Method: We selected 29 papers published in Japan and elsewhere that focused on families involved in treatment decisions in critical life situations and analyzed them using Rodgers’ concept analysis approach. Results: From 475 codes, we extracted six attributes, four antecedents, and four consequences. The unusual setting of the “critical care unit”, lack of time, and unstable psychological state are all considered by family members making treatment decisions, along with the patient’s prognosis, their relationship with the patient, conjecture about the patient’s wishes, and taking other family member’s views into account. Medical staff supports the family throughout the process, through provision of treatment, preparing family members to face reality, empathizing with the difficulty of decision-making, building relationships with family members, monitoring the decision-making process, and being attentive to family members’ feelings until the end. Conclusion: Our results indicate the importance of advance confirmation of patients’ wishes, and the role played by cultural context and family relations in decision-making by family members of the elderly.
文摘The sale of products using the android Operation System (OS) phone is increasing in rate: the fact is that its price is cheaper but its configured hardware is higher, users easily buy it and the approach to this product increases the risk of the spread of mobile malware. The understanding of majority of the users of this mobile malware is still limited. While they are growing at a faster speed in the number and level of sophistication, especially their variations have created confusion for users;therefore worrying about the safety of its users is required. In this paper, the author discussed the identification and analysis of malware families on Android Mobiles. The author selected the recognizable characteristics from ordinary users with their families collected from 58 malware families and 1485 malware samples and proposed solutions as recommendations to users before installing it with the ultimate desire to mitigate the damage in the community that is on the android phone, especially the ordinary users with limited understanding about potential hazards. It would be helpful for the ordinary users to identify the mobile malware in order to mitigate the information security risk.
