The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are imm...The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology.展开更多
Stichopus chloronotus is a tropical sea cucumber with facultative asexual reproduction in the Indo-Western Pacific,yet its wild populations are decreasing due to extensive harvesting.Understanding the species’genetic...Stichopus chloronotus is a tropical sea cucumber with facultative asexual reproduction in the Indo-Western Pacific,yet its wild populations are decreasing due to extensive harvesting.Understanding the species’genetic characteristics is essential for effective management and conservation.To develop novel microsatellite markers and assess the genetic diversity,clonality,and genetic structure of eight populations of S.chloronotus in the South China Sea,193 individuals from eight populations across Wuzhizhou and Fenjiezhou(Boundary)islands were analyzed using nine newly developed microsatellite markers and five previously established markers.RNA-Seq was employed to obtained 62662 unigenes and identified 16926 microsatellite loci.Fourteen polymorphic microsatellite loci were developed,of which 11 were highly polymorphic(polymorphic information content>0.5).The number of alleles(N_(a))ranged from 3 to 6 per locus,and the average Shannon diversity index(I)was 1.107.All the populations exhibited asexual reproduction,with regional variations in reproductive modes.Asexual reproduction was predominant in the northwestern Wuzhizhou Island population(SY 7)and the Fenjiezhou Island population(LS 8),where four and five predominant clones represented more than 89%of the individuals,which led to reduced genetic diversity.Overall,genetic diversity was moderately low,with significant genetic differentiation among populations(F_(ST)=0.33;P<0.001),suggesting limited gene flow(the number of migrants(N_(m))<1).These findings highlight the role of reproductive strategies in shaping fine-scale genetic differentiation in S.chloronotus.The limited recruitment success of sexually produced larvae and habitat heterogeneity likely constrain clone dispersal,contributing to distinct genetic restructuring.This study provided key insights into the interplay between reproductive strategies and genetic patterns in sea cucumbers,offering a scientific basis for targeted conservation efforts.展开更多
In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine(HAM)with that of high-dose cytarabine alone(Hi DAC)as consolidation regimens in non-acute promyelocytic leukemia(...In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine(HAM)with that of high-dose cytarabine alone(Hi DAC)as consolidation regimens in non-acute promyelocytic leukemia(APL)acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People's Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission(CR1).In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival(RFS)and overall survival(OS)were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics.展开更多
Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic i...Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction （PCR） and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication （FLT3/ITD） and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 （19.7%） of 76 subjects, and NPM1 mutation in 20 （26.3%） subjects. Seven （9.2%） cases were positive for both FLT3/ITD and NPM1 mutations Significantly more FLT3/ITD aberration was detected in subjects with French-American-British （FAB） M1 （42.8%）. NPM1 mutation was frequently detected in subjects with M5 （47.1%） and infrequently in subjects with M2 （11.1%）. FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD- positive group had a lower complete remission （CR） rate （53.3% vs. 83.6%）. Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival （OS） and relapse-free survival （RFS）. The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group （P=0.069）. Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.展开更多
Childhood survivors of acute lymphoblastic leukemia (ALL) are increased risk of several chronic complications, such as second cancers, pulmonary, metabolic complications and cardiovascular disease. Obesity and metabol...Childhood survivors of acute lymphoblastic leukemia (ALL) are increased risk of several chronic complications, such as second cancers, pulmonary, metabolic complications and cardiovascular disease. Obesity and metabolic syndrome is one of the most common treatment related complication in children surviving cancer, which concurs with our nations childhood epidemic [1-3] Recent research has identified the role of genetics in the development of obesity and metabolic syndrome in childhood survivors of ALL. Growth hormone deficiency, Leptin regulation, fat mass obesity (FTO) gene and the insulin resistant ENPP1 variants disorders has been associated adverse effects of chemotherapeutic treatment and the cause of clinical manifestations of metabolic syndrome [4-8]. The illumination of the role of genetic variants can shed insights into obesity within high risk population, as well as, a target to prevent disease.展开更多
In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: th...In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification.展开更多
Comparative analysis of epigenetic alterations between acute and chronic leukemia, with an emphasis on histone modifications, was conducted. We focused on the promoter regions of the whole genomes as well as oncogenes...Comparative analysis of epigenetic alterations between acute and chronic leukemia, with an emphasis on histone modifications, was conducted. We focused on the promoter regions of the whole genomes as well as oncogenes. Our results revealed that obvious differential histone modifications pattern existed between the two subtypes. H3K27ac had a high tag density in the promoter region in both Dnd41 cell lines and K562 cell lines. H3K27ac and H3K4me1 had high correlation between the two cell lines of oncogenes. Similar results were also achieved in the promoter region of high expression genes in the Jurkat and K562 cell lines based on RNA-seq data. This suggested that H2K27ac and H3K4me1 were active regulators in leukemia cell lines.展开更多
Evidence has shown that differential transcriptomic profiles among human populations from diverse ancestries,supporting the role of genetic architecture in regulating gene expression alongside environmental stimuli.Ge...Evidence has shown that differential transcriptomic profiles among human populations from diverse ancestries,supporting the role of genetic architecture in regulating gene expression alongside environmental stimuli.Genetic variants that regulate gene expression,known as expression quantitative trait loci(eQTL),are primarily shaped by human migration history and evolutionary forces,likewise,regulation of gene expression in principle could have been influenced by these events.Therefore,a comprehensive understanding of how human evolution impacts eQTL offers important insights into how phenotypic diversity is shaped.Recent studies,however,suggest that eQTL is enriched in genes that are selectively constrained.Whether eQTL is minimally affected by selective pressures remains an open question and requires comprehensive investigations.In addition,such studies are primarily dominated by the major populations of European ancestry,leaving many marginalized populations underrepresented.These observations indicate there exists a fundamental knowledge gap in the role of genomics variation on phenotypic diversity,which potentially hinders precision medicine.This article aims to revisit the abundance of eQTL across diverse populations and provide an overview of their impact from the population and evolutionary genetics perspective,subsequently discuss their influence on phenomics,as well as challenges and opportunities in the applications to precision medicine.展开更多
Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of I...Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.展开更多
Chronic kidney disease(CKD)affects a significant fraction of the global population and is closely associated with elevated cardiovascular risk and poor clinical outcomes.Its pathophysiology entails complex molecular a...Chronic kidney disease(CKD)affects a significant fraction of the global population and is closely associated with elevated cardiovascular risk and poor clinical outcomes.Its pathophysiology entails complex molecular and cellular disturbances,including reduced nitric oxide bioavailability,persistent low-grade inflammation,oxidative stress,endothelial dysfunction,altered mineral metabolism,genetic predispositions,and uremic toxin accumulation.As current pharmacological treatments provide only partial risk reduction,complementary approaches are imperative.Exercise training,both aerobic and resistance,has emerged as a potent non-pharmacological intervention targeting these underlying molecular pathways.Regular exercise can enhance nitric oxide signaling,improve antioxidant defenses,attenuate inflammation,facilitate endothelial repair via endothelial progenitor cells,and stabilize muscle metabolism.Additionally,accumulating evidence points to a genetic dimension in CKD susceptibility and progression.Variants in genes such as APOL1,PKD1,PKD2,UMOD,and COL4A3–5 shape disease onset and severity,and may modulate response to interventions.Exercise may help buffer these genetic risks by inducing epigenetic changes,improving mitochondrial function,and optimizing crosstalk between muscle,adipose tissue,and the vasculature.This review synthesizes how exercise training can ameliorate key molecular mediators in CKD,emphasizing the interplay with genetic and epigenetic factors.We integrate evidence from clinical and experimental studies,discussing how personalized exercise prescriptions,informed by patients’genetic backgrounds and nutritional strategies(such as adequate protein intake),could enhance outcomes.Although large-scale trials linking molecular adaptations to long-term endpoints are needed,current knowledge strongly supports incorporating exercise as a cornerstone in CKD management to counteract pervasive molecular derangements and leverage genetic insights for individualized care.展开更多
Hainan Island is one of the largest islands in China and is located in the Indo-Burma biodiversity hotspot region.Despite its ecological significance,comprehensive population genetic studies of key marine organisms al...Hainan Island is one of the largest islands in China and is located in the Indo-Burma biodiversity hotspot region.Despite its ecological significance,comprehensive population genetic studies of key marine organisms along the entire coastline of Hainan Island have not been reported.This study examined the genetic diversity and population structure of the widely distributed oyster Saccostrea malabonensis around Hainan Island with analyzing mitochondrial COI gene sequences.The impacts of geographical,environmental and anthropogenic factors on genetic differentiation were also investigated.The results revealed a significant AT bias in the COI gene sequences,with transitions as the main mutation type.A total of 103 variable sites and 107 haplotypes were identified from480 COI sequences,with haplotype diversities from 0.067 to 0.782,and nucleotide diversities between 0.00011 and 0.00278.AMOVA analysis indicated that 86.65%of the variation occurred within one population while 13.35%among different populations.The average genetic distance across 16 populations was 0.00169,and the average genetic differentiation index was 0.13353.Distinct population patterns can be observed.The populations of Tonghai Village(THV)and Gangmen Mountain(GMM)in Lingshui showed similar genetic structures while those of Wanquan River Estuary(WQRE,Qionghai)and Wuzhizhou Island(WZZI,Sanya)displayed divergent evolutionary trends.Cluster analysis grouped the 480 individuals of S.malabonensis into six subpopulations.These findings are helpful for developing conservation strategies and genetic breeding programs,and are also helpful for understanding the evolutionary history of this oyster species in Hainan Island.展开更多
Avian metapneumovirus(aMPV),a paramyxovirus,causes acute respiratory diseases in turkeys and swollen head syndrome in chickens.This study established a reverse genetics system for aMPV subtype B LN16-A strain based on...Avian metapneumovirus(aMPV),a paramyxovirus,causes acute respiratory diseases in turkeys and swollen head syndrome in chickens.This study established a reverse genetics system for aMPV subtype B LN16-A strain based on T7 RNA polymerase.Full-length cDNA of the LN16-A strain was constructed by assembling 5 cDNA fragments between the T7 promoter and hepatitis delta virus ribozyme.Transfection of this plasmid,along with the supporting plasmids encoding the N,P,M2-1,and L proteins of LN16-A into BSR-T7/5 cells,resulted in the recovery of aMPV subtype B.To identify an effective insertion site,the enhanced green fluorescent protein(EGFP)gene was inserted into different sites of the LN16-A genome to generate recombinant LN16-As.The results showed that the expression levels of EGFP at the site between the G and L genes of LN16-A were significantly higher than those at the other two sites(between the leader and N genes or replacing the SH gene).To verify the availability of the site between G and L for foreign gene expression,the VP2 gene of very virulent infectious bursal disease virus(vvIBDV)was inserted into this site,and recombinant LN16-A(rLN16A-vvVP2)was successfully rescued.Single immunization of specificpathogen-free chickens with rLN16A-vvVP2 induced high levels of neutralizing antibodies and provided 100%protection against the virulent aMPV subtype B and vvIBDV.Establishing a reverse genetics system here provides an important foundation for understanding aMPV pathogenesis and developing novel vector vaccines.展开更多
Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations ...Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations in DNA mismatch repair(MMR)genes,including MLH1,MSH2,MSH6 and PMS2.These mutations lead to microsatellite instability(MSI)and defective DNA repair mechanisms,resulting in increased cancer risk.Early detection of LS is crucial for effective management and cancer prevention.Endoscopic surveillance,particularly regular colonoscopy,is recommended for individuals with LS to detect CRC at early stages.Additionally,universal screening of CRC for MMR deficiency can help identify at-risk individuals.Genetic counseling plays a valuable role in LS by guiding patients and their families in understanding the genetic basis,making informed decisions regarding surveillance and prevention,and offering reproductive options to reduce the transmission of pathogenic variants of the offspring.The aim of this review is to outline current strategies for the diagnosis,surveillance,and management of LS,with a focus on the role of genetic counseling,endoscopic screening,and emerging therapeutic approaches to mitigate cancer risk in affected individuals.展开更多
Information about whether genetic information requires special treatment in law varies around the world and many aspects are not clear.In this study,we draw upon knowledge gained from various disciplines,such as genet...Information about whether genetic information requires special treatment in law varies around the world and many aspects are not clear.In this study,we draw upon knowledge gained from various disciplines,such as genetics,medicine,law,philosophy,psychology,sociology,anthropology,insurance,and economics,which have all contributed to the study of genetic information,and discrimination based on genetic traits.With this in mind,we are able to set this research study into perspective.We make no claim on behalf of any field of study.Nevertheless,we say the development in the field of genetics is in its infancy and that knowledge of an individual genome would be essential not only for counseling but could also be used for stigmatization and discrimination.The purpose of the study is to help provide useful links concerning legal and ethical issues in human genetics and particularly where it deals with the laws,regulations,and policies concerning genetic information.We deal with the legal and ethical aspects in human genetics that influence genetic information.We examine government policies and the existing legislation in Papua New Guinea(PNG)that deal with genetic information and analyze discrimination cases due to genetic traits and describe its magnitude in PNG.This study places importance on the examination of qualitative data collected by a questionnaire survey from individual subjects representing various organizations in PNG including Department of Health,Insurance companies,General Federation of Employers’Associations,Trade Unions,and professional workers such as lawyers,District Court magistrates,medical doctors,healthcare workers,students,and private individuals.The study was conducted in towns in PNG although the majority of the participants live in the National Capital District.A sample of individuals(patients)were enrolled in a cross-sectional questionnaire survey.Individual information was obtained to describe the situation of the area.However,this study did not use administrative records based on health information from the Department of Health which describes the prevalence of genetically disordered individuals.All selected individuals or subjects were interviewed or completed a questionnaire.The data were assessed to characterize the study subsets.The findings of this study are made available to clinical practice in law,medical and public health,and private and public institutions including insurance companies,employers’federation,mining companies,and workers’unions in PNG,and academics and researchers.Educational programs on the basic principles of genetics,ethics,and law in relation to insurance will have to be developed to improve the knowledge of insurance,medical,and the cost of long-term care.展开更多
2025年3月17日,国际顶级学术期刊《自然·遗传学》(Nature Genetics)刊发题为“Genomic analysis of 1325 Camellia accessions sheds light on agronomic and metabolic traits for tea plant improvement”的研究性论文。该研究...2025年3月17日,国际顶级学术期刊《自然·遗传学》(Nature Genetics)刊发题为“Genomic analysis of 1325 Camellia accessions sheds light on agronomic and metabolic traits for tea plant improvement”的研究性论文。该研究由福建省农业科学院茶叶研究所与中国农业科学院农业基因组研究所等多家单位合作完成。本研究通过对茶树及其近缘种的基因组进行深度重测序,构建了全面的茶树基因组遗传变异图谱,进而揭示了茶树的遗传多样性及其驯化状态。其结果为茶树的遗传进化和精准设计育种提供了有益见解以及重要参考资料。展开更多
Chicken meat quality directly influences consumer acceptability and is crucial for the economic success of the poultry industry.Genetics and nutrition are key determinants of the meat quality traits in broilers.This r...Chicken meat quality directly influences consumer acceptability and is crucial for the economic success of the poultry industry.Genetics and nutrition are key determinants of the meat quality traits in broilers.This review summarizes the research advances in this field,with a focus on the genetic and nutritional foundations that regulate intramuscular fat(IMF)deposition and meat quality in chickens over the past decade.The effects of embryonic nutrition,both maternal nutrition and in ovo feeding(IOF),on skeletal muscle development,the IMF content,and meat quality traits in broilers are also discussed.In genetics,single-cell RNA sequencing revealed that de novo lipogenesis predominantly occurs in myocytes,which is key to the formation of IMF in chicken muscle tissue.Fatty acid synthase(FASN)is the key enzyme involved in this process.This discovery has reshaped the traditional understanding of intramuscular lipid metabolism in poultry.Key genes,proteins,and pathways,such as FASN,FABP4,PPARG,C/EBPα,SLC27A1;LPL,APOA1,COL1A1;PPAR and ECM–receptor interactions signaling,have been identified to regulate IMF content and distribution by modulating fatty acid metabolism and adipogenesis.LncHLFF was innovatively found to promote ectopic IMF deposition in chickens via exosome-mediated mechanisms without affecting abdominal fat deposition.MiR-27b-3p and miR-128-3p were found to inhibit adipogenic differentiation by targeting PPARG,thereby affecting IMF formation.In nutrition,nutrigenomics research has shown that fructose enhances IMF deposition by activating ChREBP,providing new targets for nutritional interventions.Adjusting dietary components,including energy,protein,amino acids,fatty acids,and phytochemicals(e.g.,rutin),has been shown to significantly improve meat quality in broilers.Maternal nutrition(e.g.,intake of energy,amino acids,vitamins,and trace elements)and IOF(e.g.,N-carbamylglutamate)have also been confirmed to significantly impact offspring meat quality,opening new avenues for improving embryonic nutrition.Based on these significant advancements,this review proposes strategies that integrate genetic and nutritional approaches.These strategies aim to modulate the differentiation fate of paraxial mesenchymal stem cells toward myogenic or adipogenic lineages and the interaction between muscle and adipose tissues.These insights would help to improve meat quality while ensuring the growth performance of broiler chickens.展开更多
Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion...Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots.展开更多
Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality.The advent of next-generation sequencing(NGS)has made genetic testing more accessible,which is crucial for p...Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality.The advent of next-generation sequencing(NGS)has made genetic testing more accessible,which is crucial for precise diagnosis and targeted therapeutic strategies.The aim of this study is to explore the landscape of genetic variants,the relationship between specific variants and clinical phenotypes,and the impact on clinical decision-making in China.A total of 1536 probands(median age,37 years;1025 males[66.7%])with suspected hereditary cardiomyopathy or arrhythmia(covering 15 clinical phenotypes)are recruited from 146 hospitals across 30 provinces and cities in China.Positive results are confirmed in 390 of 1536 probands,leading to a diagnostic yield of 25.4%.Forty-two and three-tenths percent(n=169)of family members carry the same variants as positive probands.Hypertrophic cardiomyopathy(HCM)and dilated cardiomyopathy(DCM)are the predominant phenotypes,with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM.In 76.9%of the positive probands,the identified variants are helpful in clinical management,family screening,and fertility.This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.展开更多
This study systematically analyzed the primary causes of malnutrition in children with leukemia during chemotherapy,clarified the status of malnutrition and specific nutritional intervention measures,and comprehensive...This study systematically analyzed the primary causes of malnutrition in children with leukemia during chemotherapy,clarified the status of malnutrition and specific nutritional intervention measures,and comprehensively evaluated the research progress.The research indicates a shift from basic supportive care toward precision intervention strategies.Immunonutrition approaches,such as omega-3 fatty acid supplementation and probiotics for gut microbiota modulation,significantly mitigate chemotherapy-related side effects and enhance nutritional status.These targeted novel regimens demonstrate clear clinical advantages.The success of nutritional management depends on a multidisciplinary collaboration mechanism.The organic integration of innovative nutritional protocols with standard treatments from hematology,pediatrics,and nutrition departments significantly optimizes treatment outcomes and long-term quality of life for children with leukemia.This interdisciplinary synergy is reshaping contemporary medical models.展开更多
Oral immunization is an alternative or supplementary approach that can significantly improve dog vaccination coverage,especially for free-roaming dogs.Safe and effective oral rabies vaccines for dogs are still being s...Oral immunization is an alternative or supplementary approach that can significantly improve dog vaccination coverage,especially for free-roaming dogs.Safe and effective oral rabies vaccines for dogs are still being sought.In our previous studies,we generated a genetically modified rabies virus(RABV) ERA strain,rERAG_(333E),containing a mutation from arginine(Arg,R) to glutamic acid(Glu,E) at residue 333 of the G protein(G_(333E)).Our previous results demonstrated that rERAG_(333E) was safe for adult mice and dogs,and oral vaccination with rERAG_(333E) induced a strong and long-lasting protective immune response in dogs.Here,we further investigated the safety and immunogenicity of rERAG_(333E) in nontarget species,including suckling mice,rhesus monkeys,foxes,raccoon dogs,piglets,goats,and sheep.Suckling mice studies demonstrated that the G_(333E) mutation significantly reduced the virulence of the ERA strain.All of the suckling mice aged 10 days and above survived and showed no apparent signs of disease after intracerebral inoculation with rERAG_(333E).Animal studies demonstrated that rERAG_(333E) was safe in rhesus monkeys,foxes,raccoon dogs,piglets,goats,and sheep.None of those animals inoculated orally with 10 times the intended field dose of rERAG_(333E) showed abnormal clinical signs before and after the booster immunization with Rabvac 3,an inactivated rabies vaccine.Meanwhile,oral inoculation with rERAG_(333E) induced strong neutralizing antibody(NA) responses to RABV in rhesus monkeys,foxes,raccoon dogs,and piglets.These results demonstrated that rERAG_(333E) has the potential to serve as a safe oral rabies vaccine for dogs.展开更多
文摘The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology.
基金Supported by the National Key Research and Development Program of China(Nos.2022YFD2401305,2022YFD2401303)the National Natural Science Foundation of China(Nos.42166005,42076097)。
文摘Stichopus chloronotus is a tropical sea cucumber with facultative asexual reproduction in the Indo-Western Pacific,yet its wild populations are decreasing due to extensive harvesting.Understanding the species’genetic characteristics is essential for effective management and conservation.To develop novel microsatellite markers and assess the genetic diversity,clonality,and genetic structure of eight populations of S.chloronotus in the South China Sea,193 individuals from eight populations across Wuzhizhou and Fenjiezhou(Boundary)islands were analyzed using nine newly developed microsatellite markers and five previously established markers.RNA-Seq was employed to obtained 62662 unigenes and identified 16926 microsatellite loci.Fourteen polymorphic microsatellite loci were developed,of which 11 were highly polymorphic(polymorphic information content>0.5).The number of alleles(N_(a))ranged from 3 to 6 per locus,and the average Shannon diversity index(I)was 1.107.All the populations exhibited asexual reproduction,with regional variations in reproductive modes.Asexual reproduction was predominant in the northwestern Wuzhizhou Island population(SY 7)and the Fenjiezhou Island population(LS 8),where four and five predominant clones represented more than 89%of the individuals,which led to reduced genetic diversity.Overall,genetic diversity was moderately low,with significant genetic differentiation among populations(F_(ST)=0.33;P<0.001),suggesting limited gene flow(the number of migrants(N_(m))<1).These findings highlight the role of reproductive strategies in shaping fine-scale genetic differentiation in S.chloronotus.The limited recruitment success of sexually produced larvae and habitat heterogeneity likely constrain clone dispersal,contributing to distinct genetic restructuring.This study provided key insights into the interplay between reproductive strategies and genetic patterns in sea cucumbers,offering a scientific basis for targeted conservation efforts.
基金supported by grants from the Basic Research Project of Shenzhen Science and Technology Program(No.JYCJ20150403101146307,No.JCYJ20150403101028195 and No.JCYJ20160422145031770)the National Natural Science Foundation of China(No.81600168)
文摘In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine(HAM)with that of high-dose cytarabine alone(Hi DAC)as consolidation regimens in non-acute promyelocytic leukemia(APL)acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People's Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission(CR1).In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival(RFS)and overall survival(OS)were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics.
文摘Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction （PCR） and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication （FLT3/ITD） and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 （19.7%） of 76 subjects, and NPM1 mutation in 20 （26.3%） subjects. Seven （9.2%） cases were positive for both FLT3/ITD and NPM1 mutations Significantly more FLT3/ITD aberration was detected in subjects with French-American-British （FAB） M1 （42.8%）. NPM1 mutation was frequently detected in subjects with M5 （47.1%） and infrequently in subjects with M2 （11.1%）. FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD- positive group had a lower complete remission （CR） rate （53.3% vs. 83.6%）. Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival （OS） and relapse-free survival （RFS）. The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group （P=0.069）. Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.
文摘Childhood survivors of acute lymphoblastic leukemia (ALL) are increased risk of several chronic complications, such as second cancers, pulmonary, metabolic complications and cardiovascular disease. Obesity and metabolic syndrome is one of the most common treatment related complication in children surviving cancer, which concurs with our nations childhood epidemic [1-3] Recent research has identified the role of genetics in the development of obesity and metabolic syndrome in childhood survivors of ALL. Growth hormone deficiency, Leptin regulation, fat mass obesity (FTO) gene and the insulin resistant ENPP1 variants disorders has been associated adverse effects of chemotherapeutic treatment and the cause of clinical manifestations of metabolic syndrome [4-8]. The illumination of the role of genetic variants can shed insights into obesity within high risk population, as well as, a target to prevent disease.
文摘In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification.
文摘Comparative analysis of epigenetic alterations between acute and chronic leukemia, with an emphasis on histone modifications, was conducted. We focused on the promoter regions of the whole genomes as well as oncogenes. Our results revealed that obvious differential histone modifications pattern existed between the two subtypes. H3K27ac had a high tag density in the promoter region in both Dnd41 cell lines and K562 cell lines. H3K27ac and H3K4me1 had high correlation between the two cell lines of oncogenes. Similar results were also achieved in the promoter region of high expression genes in the Jurkat and K562 cell lines based on RNA-seq data. This suggested that H2K27ac and H3K4me1 were active regulators in leukemia cell lines.
基金supported by the Ministry of Higher Education(MOHE)Malaysia through Fundamental Research Grant Scheme(FRGS)with project code:FRGS/1/2021/STG01/UCSI/01/.SX was funded by the National Natural Science Foundation of China(NSFC)grants 32030020 and 32288101funded by the NSFC grant 32270665.
文摘Evidence has shown that differential transcriptomic profiles among human populations from diverse ancestries,supporting the role of genetic architecture in regulating gene expression alongside environmental stimuli.Genetic variants that regulate gene expression,known as expression quantitative trait loci(eQTL),are primarily shaped by human migration history and evolutionary forces,likewise,regulation of gene expression in principle could have been influenced by these events.Therefore,a comprehensive understanding of how human evolution impacts eQTL offers important insights into how phenotypic diversity is shaped.Recent studies,however,suggest that eQTL is enriched in genes that are selectively constrained.Whether eQTL is minimally affected by selective pressures remains an open question and requires comprehensive investigations.In addition,such studies are primarily dominated by the major populations of European ancestry,leaving many marginalized populations underrepresented.These observations indicate there exists a fundamental knowledge gap in the role of genomics variation on phenotypic diversity,which potentially hinders precision medicine.This article aims to revisit the abundance of eQTL across diverse populations and provide an overview of their impact from the population and evolutionary genetics perspective,subsequently discuss their influence on phenomics,as well as challenges and opportunities in the applications to precision medicine.
文摘Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.
基金supported by the National Research Foundation of Korea(NRF)grant funded by the Korea government(MSIT)(grant number:NRF-2022R1A2C1092743).
文摘Chronic kidney disease(CKD)affects a significant fraction of the global population and is closely associated with elevated cardiovascular risk and poor clinical outcomes.Its pathophysiology entails complex molecular and cellular disturbances,including reduced nitric oxide bioavailability,persistent low-grade inflammation,oxidative stress,endothelial dysfunction,altered mineral metabolism,genetic predispositions,and uremic toxin accumulation.As current pharmacological treatments provide only partial risk reduction,complementary approaches are imperative.Exercise training,both aerobic and resistance,has emerged as a potent non-pharmacological intervention targeting these underlying molecular pathways.Regular exercise can enhance nitric oxide signaling,improve antioxidant defenses,attenuate inflammation,facilitate endothelial repair via endothelial progenitor cells,and stabilize muscle metabolism.Additionally,accumulating evidence points to a genetic dimension in CKD susceptibility and progression.Variants in genes such as APOL1,PKD1,PKD2,UMOD,and COL4A3–5 shape disease onset and severity,and may modulate response to interventions.Exercise may help buffer these genetic risks by inducing epigenetic changes,improving mitochondrial function,and optimizing crosstalk between muscle,adipose tissue,and the vasculature.This review synthesizes how exercise training can ameliorate key molecular mediators in CKD,emphasizing the interplay with genetic and epigenetic factors.We integrate evidence from clinical and experimental studies,discussing how personalized exercise prescriptions,informed by patients’genetic backgrounds and nutritional strategies(such as adequate protein intake),could enhance outcomes.Although large-scale trials linking molecular adaptations to long-term endpoints are needed,current knowledge strongly supports incorporating exercise as a cornerstone in CKD management to counteract pervasive molecular derangements and leverage genetic insights for individualized care.
基金the Hainan Provincial Natural Science Foundation of China(No.325RC675)the Starting Research Fund from the Hainan University(No.KYQD(ZR)-21004)。
文摘Hainan Island is one of the largest islands in China and is located in the Indo-Burma biodiversity hotspot region.Despite its ecological significance,comprehensive population genetic studies of key marine organisms along the entire coastline of Hainan Island have not been reported.This study examined the genetic diversity and population structure of the widely distributed oyster Saccostrea malabonensis around Hainan Island with analyzing mitochondrial COI gene sequences.The impacts of geographical,environmental and anthropogenic factors on genetic differentiation were also investigated.The results revealed a significant AT bias in the COI gene sequences,with transitions as the main mutation type.A total of 103 variable sites and 107 haplotypes were identified from480 COI sequences,with haplotype diversities from 0.067 to 0.782,and nucleotide diversities between 0.00011 and 0.00278.AMOVA analysis indicated that 86.65%of the variation occurred within one population while 13.35%among different populations.The average genetic distance across 16 populations was 0.00169,and the average genetic differentiation index was 0.13353.Distinct population patterns can be observed.The populations of Tonghai Village(THV)and Gangmen Mountain(GMM)in Lingshui showed similar genetic structures while those of Wanquan River Estuary(WQRE,Qionghai)and Wuzhizhou Island(WZZI,Sanya)displayed divergent evolutionary trends.Cluster analysis grouped the 480 individuals of S.malabonensis into six subpopulations.These findings are helpful for developing conservation strategies and genetic breeding programs,and are also helpful for understanding the evolutionary history of this oyster species in Hainan Island.
基金supported by the grants from the National Key Research and Development Program of China(2022YFD1800604)the China Agriculture Research System(CARS-41)the Heilongjiang Touyan Innovation Team Program,China。
文摘Avian metapneumovirus(aMPV),a paramyxovirus,causes acute respiratory diseases in turkeys and swollen head syndrome in chickens.This study established a reverse genetics system for aMPV subtype B LN16-A strain based on T7 RNA polymerase.Full-length cDNA of the LN16-A strain was constructed by assembling 5 cDNA fragments between the T7 promoter and hepatitis delta virus ribozyme.Transfection of this plasmid,along with the supporting plasmids encoding the N,P,M2-1,and L proteins of LN16-A into BSR-T7/5 cells,resulted in the recovery of aMPV subtype B.To identify an effective insertion site,the enhanced green fluorescent protein(EGFP)gene was inserted into different sites of the LN16-A genome to generate recombinant LN16-As.The results showed that the expression levels of EGFP at the site between the G and L genes of LN16-A were significantly higher than those at the other two sites(between the leader and N genes or replacing the SH gene).To verify the availability of the site between G and L for foreign gene expression,the VP2 gene of very virulent infectious bursal disease virus(vvIBDV)was inserted into this site,and recombinant LN16-A(rLN16A-vvVP2)was successfully rescued.Single immunization of specificpathogen-free chickens with rLN16A-vvVP2 induced high levels of neutralizing antibodies and provided 100%protection against the virulent aMPV subtype B and vvIBDV.Establishing a reverse genetics system here provides an important foundation for understanding aMPV pathogenesis and developing novel vector vaccines.
文摘Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations in DNA mismatch repair(MMR)genes,including MLH1,MSH2,MSH6 and PMS2.These mutations lead to microsatellite instability(MSI)and defective DNA repair mechanisms,resulting in increased cancer risk.Early detection of LS is crucial for effective management and cancer prevention.Endoscopic surveillance,particularly regular colonoscopy,is recommended for individuals with LS to detect CRC at early stages.Additionally,universal screening of CRC for MMR deficiency can help identify at-risk individuals.Genetic counseling plays a valuable role in LS by guiding patients and their families in understanding the genetic basis,making informed decisions regarding surveillance and prevention,and offering reproductive options to reduce the transmission of pathogenic variants of the offspring.The aim of this review is to outline current strategies for the diagnosis,surveillance,and management of LS,with a focus on the role of genetic counseling,endoscopic screening,and emerging therapeutic approaches to mitigate cancer risk in affected individuals.
文摘Information about whether genetic information requires special treatment in law varies around the world and many aspects are not clear.In this study,we draw upon knowledge gained from various disciplines,such as genetics,medicine,law,philosophy,psychology,sociology,anthropology,insurance,and economics,which have all contributed to the study of genetic information,and discrimination based on genetic traits.With this in mind,we are able to set this research study into perspective.We make no claim on behalf of any field of study.Nevertheless,we say the development in the field of genetics is in its infancy and that knowledge of an individual genome would be essential not only for counseling but could also be used for stigmatization and discrimination.The purpose of the study is to help provide useful links concerning legal and ethical issues in human genetics and particularly where it deals with the laws,regulations,and policies concerning genetic information.We deal with the legal and ethical aspects in human genetics that influence genetic information.We examine government policies and the existing legislation in Papua New Guinea(PNG)that deal with genetic information and analyze discrimination cases due to genetic traits and describe its magnitude in PNG.This study places importance on the examination of qualitative data collected by a questionnaire survey from individual subjects representing various organizations in PNG including Department of Health,Insurance companies,General Federation of Employers’Associations,Trade Unions,and professional workers such as lawyers,District Court magistrates,medical doctors,healthcare workers,students,and private individuals.The study was conducted in towns in PNG although the majority of the participants live in the National Capital District.A sample of individuals(patients)were enrolled in a cross-sectional questionnaire survey.Individual information was obtained to describe the situation of the area.However,this study did not use administrative records based on health information from the Department of Health which describes the prevalence of genetically disordered individuals.All selected individuals or subjects were interviewed or completed a questionnaire.The data were assessed to characterize the study subsets.The findings of this study are made available to clinical practice in law,medical and public health,and private and public institutions including insurance companies,employers’federation,mining companies,and workers’unions in PNG,and academics and researchers.Educational programs on the basic principles of genetics,ethics,and law in relation to insurance will have to be developed to improve the knowledge of insurance,medical,and the cost of long-term care.
文摘2025年3月17日,国际顶级学术期刊《自然·遗传学》(Nature Genetics)刊发题为“Genomic analysis of 1325 Camellia accessions sheds light on agronomic and metabolic traits for tea plant improvement”的研究性论文。该研究由福建省农业科学院茶叶研究所与中国农业科学院农业基因组研究所等多家单位合作完成。本研究通过对茶树及其近缘种的基因组进行深度重测序,构建了全面的茶树基因组遗传变异图谱,进而揭示了茶树的遗传多样性及其驯化状态。其结果为茶树的遗传进化和精准设计育种提供了有益见解以及重要参考资料。
基金funded by the Regional Innovation and Development Joint Fund of National Natural Science Foundation of China(Project No.U21A20253)2115 Talent Development Program of China Agricultural University.
文摘Chicken meat quality directly influences consumer acceptability and is crucial for the economic success of the poultry industry.Genetics and nutrition are key determinants of the meat quality traits in broilers.This review summarizes the research advances in this field,with a focus on the genetic and nutritional foundations that regulate intramuscular fat(IMF)deposition and meat quality in chickens over the past decade.The effects of embryonic nutrition,both maternal nutrition and in ovo feeding(IOF),on skeletal muscle development,the IMF content,and meat quality traits in broilers are also discussed.In genetics,single-cell RNA sequencing revealed that de novo lipogenesis predominantly occurs in myocytes,which is key to the formation of IMF in chicken muscle tissue.Fatty acid synthase(FASN)is the key enzyme involved in this process.This discovery has reshaped the traditional understanding of intramuscular lipid metabolism in poultry.Key genes,proteins,and pathways,such as FASN,FABP4,PPARG,C/EBPα,SLC27A1;LPL,APOA1,COL1A1;PPAR and ECM–receptor interactions signaling,have been identified to regulate IMF content and distribution by modulating fatty acid metabolism and adipogenesis.LncHLFF was innovatively found to promote ectopic IMF deposition in chickens via exosome-mediated mechanisms without affecting abdominal fat deposition.MiR-27b-3p and miR-128-3p were found to inhibit adipogenic differentiation by targeting PPARG,thereby affecting IMF formation.In nutrition,nutrigenomics research has shown that fructose enhances IMF deposition by activating ChREBP,providing new targets for nutritional interventions.Adjusting dietary components,including energy,protein,amino acids,fatty acids,and phytochemicals(e.g.,rutin),has been shown to significantly improve meat quality in broilers.Maternal nutrition(e.g.,intake of energy,amino acids,vitamins,and trace elements)and IOF(e.g.,N-carbamylglutamate)have also been confirmed to significantly impact offspring meat quality,opening new avenues for improving embryonic nutrition.Based on these significant advancements,this review proposes strategies that integrate genetic and nutritional approaches.These strategies aim to modulate the differentiation fate of paraxial mesenchymal stem cells toward myogenic or adipogenic lineages and the interaction between muscle and adipose tissues.These insights would help to improve meat quality while ensuring the growth performance of broiler chickens.
文摘Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots.
基金supported by Science,Technology&Innovation Project of Xiongan New Area(2023XAGG0069)National Key Research and Development Program of China(2022YFC2703100)+2 种基金National High Level Hospital Clinical Research Funding(2022-PUMCH-D-002)the National Natural Science Foundation of China(824B2011 to Z.W.)National High Level Hospital Clinical Research Funding(2023-PUMCH-E-012).
文摘Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality.The advent of next-generation sequencing(NGS)has made genetic testing more accessible,which is crucial for precise diagnosis and targeted therapeutic strategies.The aim of this study is to explore the landscape of genetic variants,the relationship between specific variants and clinical phenotypes,and the impact on clinical decision-making in China.A total of 1536 probands(median age,37 years;1025 males[66.7%])with suspected hereditary cardiomyopathy or arrhythmia(covering 15 clinical phenotypes)are recruited from 146 hospitals across 30 provinces and cities in China.Positive results are confirmed in 390 of 1536 probands,leading to a diagnostic yield of 25.4%.Forty-two and three-tenths percent(n=169)of family members carry the same variants as positive probands.Hypertrophic cardiomyopathy(HCM)and dilated cardiomyopathy(DCM)are the predominant phenotypes,with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM.In 76.9%of the positive probands,the identified variants are helpful in clinical management,family screening,and fertility.This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
文摘This study systematically analyzed the primary causes of malnutrition in children with leukemia during chemotherapy,clarified the status of malnutrition and specific nutritional intervention measures,and comprehensively evaluated the research progress.The research indicates a shift from basic supportive care toward precision intervention strategies.Immunonutrition approaches,such as omega-3 fatty acid supplementation and probiotics for gut microbiota modulation,significantly mitigate chemotherapy-related side effects and enhance nutritional status.These targeted novel regimens demonstrate clear clinical advantages.The success of nutritional management depends on a multidisciplinary collaboration mechanism.The organic integration of innovative nutritional protocols with standard treatments from hematology,pediatrics,and nutrition departments significantly optimizes treatment outcomes and long-term quality of life for children with leukemia.This interdisciplinary synergy is reshaping contemporary medical models.
基金supported by the Natural Science Foundation of Heilongjiang Province,China (YQ2022C040)。
文摘Oral immunization is an alternative or supplementary approach that can significantly improve dog vaccination coverage,especially for free-roaming dogs.Safe and effective oral rabies vaccines for dogs are still being sought.In our previous studies,we generated a genetically modified rabies virus(RABV) ERA strain,rERAG_(333E),containing a mutation from arginine(Arg,R) to glutamic acid(Glu,E) at residue 333 of the G protein(G_(333E)).Our previous results demonstrated that rERAG_(333E) was safe for adult mice and dogs,and oral vaccination with rERAG_(333E) induced a strong and long-lasting protective immune response in dogs.Here,we further investigated the safety and immunogenicity of rERAG_(333E) in nontarget species,including suckling mice,rhesus monkeys,foxes,raccoon dogs,piglets,goats,and sheep.Suckling mice studies demonstrated that the G_(333E) mutation significantly reduced the virulence of the ERA strain.All of the suckling mice aged 10 days and above survived and showed no apparent signs of disease after intracerebral inoculation with rERAG_(333E).Animal studies demonstrated that rERAG_(333E) was safe in rhesus monkeys,foxes,raccoon dogs,piglets,goats,and sheep.None of those animals inoculated orally with 10 times the intended field dose of rERAG_(333E) showed abnormal clinical signs before and after the booster immunization with Rabvac 3,an inactivated rabies vaccine.Meanwhile,oral inoculation with rERAG_(333E) induced strong neutralizing antibody(NA) responses to RABV in rhesus monkeys,foxes,raccoon dogs,and piglets.These results demonstrated that rERAG_(333E) has the potential to serve as a safe oral rabies vaccine for dogs.
