Hypertrophic cardiomyopathy(HCM)is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy.It is one of the chief causes of sudden cardiac death in younger people and athletes.Mole...Hypertrophic cardiomyopathy(HCM)is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy.It is one of the chief causes of sudden cardiac death in younger people and athletes.Molecular-genetic studies have confirmed that the vast majority of HCM is caused by mutations in genes encoding sarcomere proteins.HCM has a relatively wide phenotypic heterogeneity,varying from asymptomatic to sudden cardiac death,because of the many different mutations and pathogenic genes underlying it.Many studies have explored the clinical symptoms and prognosis of HCM,emphasizing the importance of genotype in evaluating patient prognosis and guiding the clinical management of HCM.To elaborate the main pathogenic genes and phenotypic prognosis in HCM to promote a better understanding of this genetic disease.Retrospective analysis of literature to evaluate the association between underlying gene mutations and clinical phenotypes in HCM patients.As sequencing technology advances,the pathogenic gene mutation spectrum and phenotypic characteristics of HCM are gradually becoming clearer.HCM is a widespread inherited disease with a highly variable clinical phenotype.The precise mechanisms linking known pathogenic gene mutations and the clinical course of this heterogeneous condition remain elusive.展开更多
BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients wi...BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.展开更多
With reported pathogenic genes of Botrytis cirterea Pers. and unknown proteins related to pathogencity as experimental materials, the pathogenic genes were studied by bioinformatics methods, and these unknown proteins...With reported pathogenic genes of Botrytis cirterea Pers. and unknown proteins related to pathogencity as experimental materials, the pathogenic genes were studied by bioinformatics methods, and these unknown proteins were analyzed with bioinforrnaties tools and softwares, so as to lay a theoretical basis for the control of tomato grey mould at molecular level in future. The results showed that through the alignment analysis by DNAMAN software, three pairs of unknown pro- teins with higher comprehensive matching degrees were obtained, and these proteins were predicted to be coded by hrp gene cluster of type Ili secretion system; through Bioedit and ProtParam, the amino acid composition, size, molecular weight, isoelectrie point and hydrophobicity of the each of the six unknown proteins were obtained; and corresponding secondary structures were obtained using DNAMAN. The results of this study could guide deep research of such genes.展开更多
To demonstrate the expression profiling of Xanthomonas oryzae pv.oryzae(Xoo) in vitro and in planta,DNA microarrays of 371 genes potentially associated with pathogenicity and virulence were used to compare the transcr...To demonstrate the expression profiling of Xanthomonas oryzae pv.oryzae(Xoo) in vitro and in planta,DNA microarrays of 371 genes potentially associated with pathogenicity and virulence were used to compare the transcriptional level alteration of the wild-type strain PXO99A and gene deletion mutants ΔgacAxoo and ΔfleQxoo of Xoo grown in the rich medium NBY vs.hrp-inducing minimal medium XOM2 or leaf tissues of rice.Results indicated that 17 and 38 genes of PXO99A were differentially expressed in XOM2 and the leaf tissues of rice relative to NBY,respectively.Twenty-eight genes of ΔgacAxoo grown in XOM2 and 12 genes of ΔfleQxoo in NBY were differentially expressed relative to PXO99A.The identification of differentially-expressed genes,GacAxoo-and FleQxoo-regulons and novel candidate genes of Xoo strains would provide us the target genes for further functional analysis in pathogenesis of Xoo.展开更多
Pine wilt disease(PWD)is one of the most devastating diseases of Pinu s spp.and is caused by the pine wood nematode(PWN),Bursaphelenchus xylophilus(Steiner&Buhrer)Nickle.To study adaptation of PWN to survive in ho...Pine wilt disease(PWD)is one of the most devastating diseases of Pinu s spp.and is caused by the pine wood nematode(PWN),Bursaphelenchus xylophilus(Steiner&Buhrer)Nickle.To study adaptation of PWN to survive in hosts that differ in resistance,we examined the self-regulatory characteristics of PWN at the biological and molecular levels early in the interaction.Two-year-old susceptible Pinus thunbergii and resistant Pinus taeda were selected for this experiment,and changes in PWNs after inoculation were assessed.q RT-PCR was used to detect changes in genes related to PWN pathogenicity and detoxification.The results showed that the migration and reproductive abilities of PWNs in P.thunbergii were stronger than those of PWNs in P.taeda.After 7 d,the number of nematodes in P.thunbergii was approximately 3.2-fold higher than in P.taeda.After 15 d,the number of nematodes in P.thunbergii was approximately twofold higher than that in P.taeda.Because PWN can adjust its sex ratio after infection,we compared the sex ratio of uninoculated PWNs,to that in the two pine species.In P.thunbergii,the female to male ratio first decreased and then stabilized over time;in P.taeda first decreased and then increased.Relative fat accumulation in PWNs increased significantly after the PWNs entered the tree body;the accumulation rate in P.thunbergii was higher than in P.taeda at 7 d,but lower after 15 d.Scanning electron microscopy(SEM)showed significantly more bacteria on the surface of PWNs in P.taeda compared with PWNs in susceptible P.thunbergii.At 12 h after inoculation,the expression of genes related to cell-wall degradation(Bx Beta1-4 and Bxpel1),effectors(Bx CDP1,Bx Sap B1),and active oxygen metabolism(Bxy-ctl-1 and Bx GST3)was 2–6×higher in the resistant pine than in the susceptible one.In contrast,in PWNs,the expression of autophagy-related genes Bx ATG1 and Bx ATG16 was 1.5–2 times higher in P.thunbergii than in P.taeda.These results indicate that the interaction between PWNs and pine trees with different resistance levels elicits a series of physiological and molecular adaptations that affect nematode reproduction and virulence.This study will help elucidate the adaptive mechanisms of PWN in different pine trees.展开更多
Cotton diseases represent a major challenge to cotton growth.Cloning of a cotton pathogen response gene and promoter is of great importance to improve disease resistance.In this study,a
The microbial quality of urban recreational water is of great concern to public health.The monitoring of indicator organisms and several pathogens alone is not sufficient to accurately and comprehensively identify mic...The microbial quality of urban recreational water is of great concern to public health.The monitoring of indicator organisms and several pathogens alone is not sufficient to accurately and comprehensively identify microbial risks.To assess the levels of bacterial pathogens and health risks in urban recreational water,we analyzed pathogen diversity and quantified four pathogens in 46 water samples collected from waterbodies in Beijing Olympic Forest Park in one year.The pathogen diversity revealed by 16 S r RNA gene targeted next-generation sequencing（NGS） showed that 16 of 40 genera and 13 of 76 reference species were present.The most abundant species were Acinetobacter johnsonii,Mycobacterium avium and Aeromonas spp.Quantitative polymerase chain reaction（q PCR） of Escherichia coli（uid A）,Aeromonas（aer A）,M.avium（16S r RNA）,Pseudomonas aeruginosa（oaa） and Salmonella（inv A） showed that the aer A genes were the most abundant,occurring in all samples with concentrations of 10^（4–6） genome copies/100 m L,followed by oaa,inv A and M.avium.In total,34.8% of the samples harbored all genes,indicating the prevalence of these pathogens in this recreational waterbody.Based on the q PCR results,a quantitative microbial risk assessment（QMRA） showed that the annual infection risks of Salmonella,M.avium and P.aeruginosa in five activities were mostly greater than the U.S.EPA risk limit for recreational contacts,and children playing with water may be exposed to the greatest infection risk.Our findings provide a comprehensive understanding of bacterial pathogen diversity and pathogen abundance in urban recreational water by applying both NGS and q PCR.展开更多
According to a report in the June 24 issue of Nature Genetics, mutations in a gene named heat-shock transcription factor 4 (HSF4) have been discovered to be responsible for lamellar and Marner cataract. Experts be... According to a report in the June 24 issue of Nature Genetics, mutations in a gene named heat-shock transcription factor 4 (HSF4) have been discovered to be responsible for lamellar and Marner cataract. Experts believe that this will open new horizons for revealing the pathogenic origin of congenital cataract. ……展开更多
The disease caused by pathogenic fungi is the main cause of postharvest loss of fresh fruits.The formulation of disease control strategies greatly depends on the understanding of pathogenic mechanism of fungal pathoge...The disease caused by pathogenic fungi is the main cause of postharvest loss of fresh fruits.The formulation of disease control strategies greatly depends on the understanding of pathogenic mechanism of fungal pathogens and control strategy.In recent years,based on the application of various combinatorial research methods,some pathogenic genes of important postharvest fungal pathogens in fruit have been revealed,and their functions and molecular regulatory networks of virulence have been explored.These progresses not only provide a new perspective for understanding the molecular basis and regulation mechanism of pathogenicity of postharvest pathogenic fungi,but also are beneficial to giving theoretical guidance for the creation of new technologies of postharvest disease control.Here,we synthesized these recent advances and illustrated conceptual frameworks,and identified several issues on the focus of future studies.展开更多
Cleft lip/palate(CL/P)is generally divided into two main types,non-syndromic and syndromic CL/P,with a global incidence of approximately 1 in 700.^(1)Previous studies have identified various susceptibility genes assoc...Cleft lip/palate(CL/P)is generally divided into two main types,non-syndromic and syndromic CL/P,with a global incidence of approximately 1 in 700.^(1)Previous studies have identified various susceptibility genes associated with non-syndromic CL/P,while the pathogenic gene of syndromic CL/P and the related mechanisms are not well docu-mented.Ectrodactylyeectodermal dysplasiaecleft lip/palate(EEC)syndrome is a representative syndromic CL/P.展开更多
In November 2024,there was an unusual surge in human metapneumovirus(hMPV)infection cases in Beijing.We performed an epidemiological investigation among cases with acute respiratory tract infection(ARTI).We enrolled A...In November 2024,there was an unusual surge in human metapneumovirus(hMPV)infection cases in Beijing.We performed an epidemiological investigation among cases with acute respiratory tract infection(ARTI).We enrolled ARTI cases from 35 sentinel hospitals,collected samples and medical records,conducted comprehensive pathogen testing,sequenced target genes or whole genomes,and performed phylogenetic analysis.A total of 79,793 cases were included in this study from 2014 to 2024.The hMPV epidemic exhibited typical seasonality from December to April of the following year,with an overall positivity rate of hMPV of 1.6%.The positivity rate of hMPV was highest in the 0–4 year age group(3.4%)and remained relatively high(1.2%)among populations over 60 years of age.Genotypes A and B were cocirculated,with predominant genotypes alternating every two years.We identified two variants of A2c with 180 or 111 nucleotide duplications in the G gene since 2016,and the A2c_(111nt-dup)has been predominant(56.9%)over the parent A2c since 2018.HMPV infection experienced an unusual surge beginning in November 2024 and peaked in December(9.5%).Subgenotype B2(98.3%)returned to the predominant position instead of the A2c_(111nt-dup)and seemed to be associated with milder illness.Twenty hMPV isolates collected in 2024 were identified as known subgenotypes(A2c and B2)via whole-genome analyses.In conclusion,hMPV exhibited a typical seasonality in Beijing,with the predominant genotypes alternating every two years.Its unusual surge in November 2024 was attributed to the reoccurrence of hMPV B2 rather than a novel variant.展开更多
With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,a...With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,and improvement of population quality.Congenital heart disease is a common birth defect and is the most serious among all birth defect diseases and seriously endangers the physical and mental health of children in China.In this article,we review the latest research progress of congenital heart disease in the field of reproduction.展开更多
Septic shock is a severe form of sepsis characterized by high global mortality rates and significant heritability.Clinicians have long been perplexed by the differential expression of genes,which poses challenges for ...Septic shock is a severe form of sepsis characterized by high global mortality rates and significant heritability.Clinicians have long been perplexed by the differential expression of genes,which poses challenges for early diagnosis and prompt treatment of septic shock.Genetic polymorphisms play crucial roles in determining susceptibility to,mortality from,and the prognosis of septic shock.Research indicates that pathogenic genes are known to cause septic shock through specific alleles,and protective genes have been shown to confer beneficial effects on affected individuals.Despite the existence of many biomarkers linked to septic shock,their clinical use remains limited.Therefore,further investigation is needed to identify specific biomarkers that can facilitate early prevention,diagnosis and risk stratification.Septic shock is closely associated with multiple signaling pathways,including the toll-like receptor 2/toll-like receptor 4,tumor necrosis factor-α,phosphatidylinositol 3-kinase/protein kinase B,mitogen-activated protein kinase,nuclear factorκB,Janus kinase/signal transducer and activator of transcription,mammalian target of rapamycin,NOD-like receptor thermal protein domain-associated protein 3 and hypoxia-induced-factor-1 pathways.Understanding the regulation of these signaling pathways may lead to the identification of therapeutic targets for the development of novel drugs to treat sepsis or septic shock.In conclusion,identifying differential gene expression during the development of septic shock allows physicians to stratify patients according to risk at an early stage.Furthermore,auxiliary examinations can assist physicians in identifying therapeutic targets within relevant signaling pathways,facilitating early diagnosis and treatment,reducing mortality and improving the prognosis of septic shock patients.Although there has been significant progress in studying the genetic polymorphisms,specific biomarkers and signaling pathways involved in septic shock,the journey toward their clinical application and widespread implementation still lies ahead.展开更多
基金Supported by National Natural Science Foundation of China,No.81770379 and 81470521.
文摘Hypertrophic cardiomyopathy(HCM)is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy.It is one of the chief causes of sudden cardiac death in younger people and athletes.Molecular-genetic studies have confirmed that the vast majority of HCM is caused by mutations in genes encoding sarcomere proteins.HCM has a relatively wide phenotypic heterogeneity,varying from asymptomatic to sudden cardiac death,because of the many different mutations and pathogenic genes underlying it.Many studies have explored the clinical symptoms and prognosis of HCM,emphasizing the importance of genotype in evaluating patient prognosis and guiding the clinical management of HCM.To elaborate the main pathogenic genes and phenotypic prognosis in HCM to promote a better understanding of this genetic disease.Retrospective analysis of literature to evaluate the association between underlying gene mutations and clinical phenotypes in HCM patients.As sequencing technology advances,the pathogenic gene mutation spectrum and phenotypic characteristics of HCM are gradually becoming clearer.HCM is a widespread inherited disease with a highly variable clinical phenotype.The precise mechanisms linking known pathogenic gene mutations and the clinical course of this heterogeneous condition remain elusive.
基金Supported by the Jilin Provincial Healthcare Talent Special Program,No.2019SCZT08.
文摘BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.
基金Supported by Science and Technology Pilot Project of Xinjiang Agricultural Reclamation Academy of Science(50YYD201610)
文摘With reported pathogenic genes of Botrytis cirterea Pers. and unknown proteins related to pathogencity as experimental materials, the pathogenic genes were studied by bioinformatics methods, and these unknown proteins were analyzed with bioinforrnaties tools and softwares, so as to lay a theoretical basis for the control of tomato grey mould at molecular level in future. The results showed that through the alignment analysis by DNAMAN software, three pairs of unknown pro- teins with higher comprehensive matching degrees were obtained, and these proteins were predicted to be coded by hrp gene cluster of type Ili secretion system; through Bioedit and ProtParam, the amino acid composition, size, molecular weight, isoelectrie point and hydrophobicity of the each of the six unknown proteins were obtained; and corresponding secondary structures were obtained using DNAMAN. The results of this study could guide deep research of such genes.
文摘To demonstrate the expression profiling of Xanthomonas oryzae pv.oryzae(Xoo) in vitro and in planta,DNA microarrays of 371 genes potentially associated with pathogenicity and virulence were used to compare the transcriptional level alteration of the wild-type strain PXO99A and gene deletion mutants ΔgacAxoo and ΔfleQxoo of Xoo grown in the rich medium NBY vs.hrp-inducing minimal medium XOM2 or leaf tissues of rice.Results indicated that 17 and 38 genes of PXO99A were differentially expressed in XOM2 and the leaf tissues of rice relative to NBY,respectively.Twenty-eight genes of ΔgacAxoo grown in XOM2 and 12 genes of ΔfleQxoo in NBY were differentially expressed relative to PXO99A.The identification of differentially-expressed genes,GacAxoo-and FleQxoo-regulons and novel candidate genes of Xoo strains would provide us the target genes for further functional analysis in pathogenesis of Xoo.
基金supported by the major emergency project in science and technology of National Forestry and Grassland Administration(ZD202001)the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)。
文摘Pine wilt disease(PWD)is one of the most devastating diseases of Pinu s spp.and is caused by the pine wood nematode(PWN),Bursaphelenchus xylophilus(Steiner&Buhrer)Nickle.To study adaptation of PWN to survive in hosts that differ in resistance,we examined the self-regulatory characteristics of PWN at the biological and molecular levels early in the interaction.Two-year-old susceptible Pinus thunbergii and resistant Pinus taeda were selected for this experiment,and changes in PWNs after inoculation were assessed.q RT-PCR was used to detect changes in genes related to PWN pathogenicity and detoxification.The results showed that the migration and reproductive abilities of PWNs in P.thunbergii were stronger than those of PWNs in P.taeda.After 7 d,the number of nematodes in P.thunbergii was approximately 3.2-fold higher than in P.taeda.After 15 d,the number of nematodes in P.thunbergii was approximately twofold higher than that in P.taeda.Because PWN can adjust its sex ratio after infection,we compared the sex ratio of uninoculated PWNs,to that in the two pine species.In P.thunbergii,the female to male ratio first decreased and then stabilized over time;in P.taeda first decreased and then increased.Relative fat accumulation in PWNs increased significantly after the PWNs entered the tree body;the accumulation rate in P.thunbergii was higher than in P.taeda at 7 d,but lower after 15 d.Scanning electron microscopy(SEM)showed significantly more bacteria on the surface of PWNs in P.taeda compared with PWNs in susceptible P.thunbergii.At 12 h after inoculation,the expression of genes related to cell-wall degradation(Bx Beta1-4 and Bxpel1),effectors(Bx CDP1,Bx Sap B1),and active oxygen metabolism(Bxy-ctl-1 and Bx GST3)was 2–6×higher in the resistant pine than in the susceptible one.In contrast,in PWNs,the expression of autophagy-related genes Bx ATG1 and Bx ATG16 was 1.5–2 times higher in P.thunbergii than in P.taeda.These results indicate that the interaction between PWNs and pine trees with different resistance levels elicits a series of physiological and molecular adaptations that affect nematode reproduction and virulence.This study will help elucidate the adaptive mechanisms of PWN in different pine trees.
文摘Cotton diseases represent a major challenge to cotton growth.Cloning of a cotton pathogen response gene and promoter is of great importance to improve disease resistance.In this study,a
基金supported by the Key Program of the National Natural Science Foundation of China(No.51138006)the National Key Research on Water Environment Pollution Control in China(No.2012ZX07301-001)
文摘The microbial quality of urban recreational water is of great concern to public health.The monitoring of indicator organisms and several pathogens alone is not sufficient to accurately and comprehensively identify microbial risks.To assess the levels of bacterial pathogens and health risks in urban recreational water,we analyzed pathogen diversity and quantified four pathogens in 46 water samples collected from waterbodies in Beijing Olympic Forest Park in one year.The pathogen diversity revealed by 16 S r RNA gene targeted next-generation sequencing（NGS） showed that 16 of 40 genera and 13 of 76 reference species were present.The most abundant species were Acinetobacter johnsonii,Mycobacterium avium and Aeromonas spp.Quantitative polymerase chain reaction（q PCR） of Escherichia coli（uid A）,Aeromonas（aer A）,M.avium（16S r RNA）,Pseudomonas aeruginosa（oaa） and Salmonella（inv A） showed that the aer A genes were the most abundant,occurring in all samples with concentrations of 10^（4–6） genome copies/100 m L,followed by oaa,inv A and M.avium.In total,34.8% of the samples harbored all genes,indicating the prevalence of these pathogens in this recreational waterbody.Based on the q PCR results,a quantitative microbial risk assessment（QMRA） showed that the annual infection risks of Salmonella,M.avium and P.aeruginosa in five activities were mostly greater than the U.S.EPA risk limit for recreational contacts,and children playing with water may be exposed to the greatest infection risk.Our findings provide a comprehensive understanding of bacterial pathogen diversity and pathogen abundance in urban recreational water by applying both NGS and q PCR.
文摘 According to a report in the June 24 issue of Nature Genetics, mutations in a gene named heat-shock transcription factor 4 (HSF4) have been discovered to be responsible for lamellar and Marner cataract. Experts believe that this will open new horizons for revealing the pathogenic origin of congenital cataract. ……
基金This research was funded by the National Natural Science Foundation of China(grant numbers 31930086,31530057,31671910,31722043).
文摘The disease caused by pathogenic fungi is the main cause of postharvest loss of fresh fruits.The formulation of disease control strategies greatly depends on the understanding of pathogenic mechanism of fungal pathogens and control strategy.In recent years,based on the application of various combinatorial research methods,some pathogenic genes of important postharvest fungal pathogens in fruit have been revealed,and their functions and molecular regulatory networks of virulence have been explored.These progresses not only provide a new perspective for understanding the molecular basis and regulation mechanism of pathogenicity of postharvest pathogenic fungi,but also are beneficial to giving theoretical guidance for the creation of new technologies of postharvest disease control.Here,we synthesized these recent advances and illustrated conceptual frameworks,and identified several issues on the focus of future studies.
基金supported by grants from the National Natural Science Foundation of China(No.81960197,82370907,81974145)the Key R&D Plan of Shaanxi Province,China(No.2021ZDLSF02-13)+2 种基金the Key Project of National Clinical Research Center for Oral Diseases(China)(No.LCC202201)the Open Projects of General Hospital of Ningxia Medical University(No.2019209)the Comprehensive Reform of Public Hospital-Key Discipline Construction and Talent Training Project of General Hospital of Ningxia Medical University(No.NYDZY035).
文摘Cleft lip/palate(CL/P)is generally divided into two main types,non-syndromic and syndromic CL/P,with a global incidence of approximately 1 in 700.^(1)Previous studies have identified various susceptibility genes associated with non-syndromic CL/P,while the pathogenic gene of syndromic CL/P and the related mechanisms are not well docu-mented.Ectrodactylyeectodermal dysplasiaecleft lip/palate(EEC)syndrome is a representative syndromic CL/P.
基金the Beijing Municipal Health Commission’s Funds for the High-qualified Public Health Professionals Development Project(Leading Professionals-01-10)Capital’s Funds for Health Improvement and Research(2024-1G-3015)Beijing Natural Science Foundation(L242051).
文摘In November 2024,there was an unusual surge in human metapneumovirus(hMPV)infection cases in Beijing.We performed an epidemiological investigation among cases with acute respiratory tract infection(ARTI).We enrolled ARTI cases from 35 sentinel hospitals,collected samples and medical records,conducted comprehensive pathogen testing,sequenced target genes or whole genomes,and performed phylogenetic analysis.A total of 79,793 cases were included in this study from 2014 to 2024.The hMPV epidemic exhibited typical seasonality from December to April of the following year,with an overall positivity rate of hMPV of 1.6%.The positivity rate of hMPV was highest in the 0–4 year age group(3.4%)and remained relatively high(1.2%)among populations over 60 years of age.Genotypes A and B were cocirculated,with predominant genotypes alternating every two years.We identified two variants of A2c with 180 or 111 nucleotide duplications in the G gene since 2016,and the A2c_(111nt-dup)has been predominant(56.9%)over the parent A2c since 2018.HMPV infection experienced an unusual surge beginning in November 2024 and peaked in December(9.5%).Subgenotype B2(98.3%)returned to the predominant position instead of the A2c_(111nt-dup)and seemed to be associated with milder illness.Twenty hMPV isolates collected in 2024 were identified as known subgenotypes(A2c and B2)via whole-genome analyses.In conclusion,hMPV exhibited a typical seasonality in Beijing,with the predominant genotypes alternating every two years.Its unusual surge in November 2024 was attributed to the reoccurrence of hMPV B2 rather than a novel variant.
基金supported by the National Key Research and Development Program of China(No.2016YFC1000500)by the National Natural Science Foundation of China(No.81570282,81570283).
文摘With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,and improvement of population quality.Congenital heart disease is a common birth defect and is the most serious among all birth defect diseases and seriously endangers the physical and mental health of children in China.In this article,we review the latest research progress of congenital heart disease in the field of reproduction.
文摘Septic shock is a severe form of sepsis characterized by high global mortality rates and significant heritability.Clinicians have long been perplexed by the differential expression of genes,which poses challenges for early diagnosis and prompt treatment of septic shock.Genetic polymorphisms play crucial roles in determining susceptibility to,mortality from,and the prognosis of septic shock.Research indicates that pathogenic genes are known to cause septic shock through specific alleles,and protective genes have been shown to confer beneficial effects on affected individuals.Despite the existence of many biomarkers linked to septic shock,their clinical use remains limited.Therefore,further investigation is needed to identify specific biomarkers that can facilitate early prevention,diagnosis and risk stratification.Septic shock is closely associated with multiple signaling pathways,including the toll-like receptor 2/toll-like receptor 4,tumor necrosis factor-α,phosphatidylinositol 3-kinase/protein kinase B,mitogen-activated protein kinase,nuclear factorκB,Janus kinase/signal transducer and activator of transcription,mammalian target of rapamycin,NOD-like receptor thermal protein domain-associated protein 3 and hypoxia-induced-factor-1 pathways.Understanding the regulation of these signaling pathways may lead to the identification of therapeutic targets for the development of novel drugs to treat sepsis or septic shock.In conclusion,identifying differential gene expression during the development of septic shock allows physicians to stratify patients according to risk at an early stage.Furthermore,auxiliary examinations can assist physicians in identifying therapeutic targets within relevant signaling pathways,facilitating early diagnosis and treatment,reducing mortality and improving the prognosis of septic shock patients.Although there has been significant progress in studying the genetic polymorphisms,specific biomarkers and signaling pathways involved in septic shock,the journey toward their clinical application and widespread implementation still lies ahead.
