Sustainable post-disaster recovery implies learning from past experience in order to prevent recreating forms of vulnerability.Memory construction supports both the healing process and redevelopment plans.Hence,memory...Sustainable post-disaster recovery implies learning from past experience in order to prevent recreating forms of vulnerability.Memory construction supports both the healing process and redevelopment plans.Hence,memory of disaster results from the balance between remembering,forgetting,and absencing elements of the disaster,and can be both a tool and an obstacle to sustainable recovery.We explore here how collective memory is built in a post-disaster context to respond to the needs of this critical period,and how it shapes recovery.This ethnographic study,conducted between 2015 and 2017,explores the recovery processes in Montserrat,a small Caribbean island affected by an extended volcanic crisis from 1995 to 2010.Although this study does not give tangible solutions for disaster risk reduction in a post-disaster context,it highlights potential obstacles for learning from a disaster and how they may be surmounted.We argue that it is crucial to acknowledge evolving collective memory in order to implement effective measures for preserving and sharing a shared understanding of disaster across generations and social groups in a way that supports disaster risk awareness.We also maintain that acknowledging the dilemma faced by authorities and disaster management agencies during a period of conflicting needs may encourage the reconsideration of risk framing,and hence reveal how to improve implementation of disaster risk reduction measures.展开更多
Background Unveiling genetic diversity features and understanding the genetic mechanisms of diverse goat pheno-types are pivotal in facilitating the preservation and utilization of these genetic resources.However,the ...Background Unveiling genetic diversity features and understanding the genetic mechanisms of diverse goat pheno-types are pivotal in facilitating the preservation and utilization of these genetic resources.However,the total genetic diversity within a species can’t be captured by the reference genome of a single individual.The pan-genome is a col-lection of all the DNA sequences that occur in a species,and it is expected to capture the total genomic diversity of the specific species.Results We constructed a goat pan-genome using map-to-pan assemble based on 813 individuals,including 723 domestic goats and 90 samples from their wild relatives,which presented a broad regional and global represen-tation.In total,146 Mb sequences and 974 genes were identified as absent from the reference genome(ARS1.2;GCF_001704415.2).We identified 3,190 novel single nucleotide polymorphisms(SNPs)using the pan-genome analysis.These novel SNPs could properly reveal the population structure of domestic goats and their wild relatives.Presence/absence variation(PAV)analysis revealed gene loss and intense negative selection during domestication and improvement.Conclusions Our research highlights the importance of the goat pan-genome in capturing the missing genetic variations.It reveals the changes in genomic architecture during goat domestication and improvement,such as gene loss.This improves our understanding of the evolutionary and breeding history of goats.展开更多
European beech(Fagus sylvatica L.)forests can have a high variability in plant species richness and abundance,from monospecific stands to highly species-rich communities.To understand what causes the low plant diversi...European beech(Fagus sylvatica L.)forests can have a high variability in plant species richness and abundance,from monospecific stands to highly species-rich communities.To understand what causes the low plant diversity observed in some beech forests,we analyzed the drivers of plant community completeness in 155 vegetation plots.Data were collected in mature,closed-canopy beech forests in Tuscany,central Italy.Site-specific species pools were estimated based on species co-occurrences.We used Generalized Least Squares linear modeling to assess the effects of anthropogenic and environmental drivers on the community completeness of whole communities and on the set of specialist species of beech forests.We also tested the response of the total cover of the herb layer to the selected predictors and related both the predictive and response variables to species composition in a Non-metric Multidimensional Scaling ordination.The community completeness of whole communities and that of beech forest specialists were negatively affected by total beech cover and positively influenced by slope.Moreover,the community completeness of whole communities was negatively impacted by elevation and positively influenced by disturbance frequency.The cover of the herb layer decreased with increasing beech cover,elevation,and precipitation.High community completeness and high cover of the herb layer were associated with the presence of thermophilic species of mixed deciduous woods in low-elevation beech forests.Our results suggest that a low plant community completeness and a low cover of the herb layer are mainly due to the competition by beech itself when it forms pure forests in its ecological optimum.Such competition is better exerted at upper elevations and in sites with low slopes,where beech litter accumulation is a limiting factor for understory species.Such evidence suggests that species absence in mature beech forests is mainly due to natural drivers and should therefore not be considered an indicator of ecological degradation of the forest.展开更多
Manufacturing micro-holes in non-conductive ceramics presents significant challenges in precision machining,particularly due to the absence of central abrasive grains in micro-grinding wheels.This study investigates h...Manufacturing micro-holes in non-conductive ceramics presents significant challenges in precision machining,particularly due to the absence of central abrasive grains in micro-grinding wheels.This study investigates helical grinding under conditions where the central abrasive grain is absent,focusing on the formation of undeformed chips.It was observed that nearly all microgrinding wheels,regardless of their manufacturing process or grain size,exhibit a central grain absence,with larger grain sizes leading to more extensive absence areas.Analysis revealed that residual patterns at the bottom of machined holes depend on the ratio of the absence zone diameter to the wheel's eccentricity.Analytical models were developed to describe the heights of cylindrical and disc-shaped residues,which were subsequently validated through kinematic simulations.The removal mechanisms for these residues differ;cylindrical residues,which cannot be removed by grinding,cause interference and should be avoided,while disc-shaped residues removal depends on the protrusion height of the first grain,influencing contact with the wheel's end face and subsequent grinding actions.Experimental validation using SiC_(p)/Al demonstrated that cylindrical residues create distinct ring-shaped wear marks,significantly increasing cutting forces,whereas discshaped residues result in hat-shaped wear marks and higher cutting forces when the first grain's protrusion is insufficient.Additionally,inadequate lubrication and chip removal can lead to chip adhesion starting from the absence zone.These findings enhance the theoretical framework of helical grinding/milling and provide valuable insights for precision machining of micro-holes in nonconductive ceramics.展开更多
Individuals with congenital absence of the vas deferens(CAVD)may transmit cystic fibrosis(CF)-causing variants of the cystic fibrosis transmembrane conductance regulator(CFTR)gene to their offspring through assisted r...Individuals with congenital absence of the vas deferens(CAVD)may transmit cystic fibrosis(CF)-causing variants of the cystic fibrosis transmembrane conductance regulator(CFTR)gene to their offspring through assisted reproductive technology(ART).We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis.CFTR was sequenced in 145 Chineseindividuals with CAVD.CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance.A comprehensive genotype analysis was performed in Chinese individuals with CAVD,incorporating previous studies and our study cohort.The prevalence of CF-causing variants was estimated through meta-analysis.In our cohort,56 differentCFTR variants were identified in 108(74.5%)patients.Twenty variants were categorized as CF-causing and were detected in 28(19.3%)patients.A comprehensive genotype analysis of 867 patients identified 174 differentCFTR variants.Sixty-four were classified as CF-causing variants,56.3%of which had not been previously reported in Chinese patients with CF.Meta-analysis showed that 14.8%(95%confidence interval[CI]:11.0%-18.9%)CAVD cases harbored one CF-causing variant,and 68.6%(95%CI:65.1%-72.0%)CAVD cases carried at least one CFTR variant.Our study underscores the urgent need for extensiveCFTR screening,including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants,in Chinese individuals with CAVDbefore undergoing ART.The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.展开更多
A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of ...A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of the plant.At low temperature,LTIA1 and LTIA2 redundantly affect chlorophyll levels,non-photochemical quenching,photosynthetic quantum yield of PSⅡand seedling growth.LTIA1 and LTIA2 proteins are involved in splicing of atp F and the biogenesis of 16S and 23S rRNA in chloroplasts.Presence/absence variation of LTIA1,the ancestral copy,was found only in japonica but that of LTIA2 in all rice subgroups.Accessions with LTIA2 presence tended to be distributed more remote from the equator compared to those with LTIA2 absence.LTIA2 duplicated from LTIA1 at the early stage of divergence of the AA genome Oryza species but deleted againin O.nivara.In cultivated rice,absence of LTIA2 is derived from O.nivara.LTIA1 absence occurred more recently in japonica.展开更多
Structural variations(SVs),a newly discovered genetic variation,have gained increasing recognition for their importance,yet much about them remains unknown.With the completion of whole-genome sequencing projects in oi...Structural variations(SVs),a newly discovered genetic variation,have gained increasing recognition for their importance,yet much about them remains unknown.With the completion of whole-genome sequencing projects in oil crops,more SVs have been identified,revealing their types,genomic distribution,and characteristics.These findings have demonstrated the crucial roles of SVs in regulating gene expression,driving trait innovation,facilitating domestication,making this an opportune time for a systematic review.We summarized the progress of SV-related studies in oil crops,focusing on the types of SVs and their mechanisms of occurrence,the strategies and methods for SV detection,and the SVs identified in oil crops such as rapeseed,soybean,peanut,and sesame.The various types of SVs,such as presence-absence variations(PAVs),copy number variations(CNVs),and homeologous exchanges(HEs),have been shown.Along with their genomic characterization,their roles in crop domestication and breeding,and regulatory impact on gene expression and agronomic traits have also been demonstrated.This review will provide an overview of the SV research process in oil crops,enabling researchers to quickly understand key information and apply this knowledge in future studies and crop breeding.展开更多
Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-lov...Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-love absence on individual loneliness are not clear.Based on the social functionalist theory and the social needs theory,this study examines the influence of individual fatherlove absence on loneliness and its underlying mechanisms.A questionnaire survey was administered to 319 junior high school students and 1,476 high school students.The results showed that adolescents with father-love absence had higher levels of loneliness,and that father-love absence affected loneliness levels through mediating pathways of individual gratitude,peer relationships,and gratitude to peer relationships.This study not only confirms the negative effects of father-love absence on adolescents’loneliness,but also explains the mediate roles of individual gratitude and peer relationships.It enriches the theoretical system related to family education and has important theoretical and practical implications for further interventions on adolescents’mental health from the perspective of fatherless parenting.展开更多
Background:Father absence has long been a popular issue in psychology due to its influence on adolescent well-being and development.Empirical studies have demonstrated the detrimental effects of father absence,such as...Background:Father absence has long been a popular issue in psychology due to its influence on adolescent well-being and development.Empirical studies have demonstrated the detrimental effects of father absence,such as disruptions in prosocial qualities like gratitude and forgiveness.However,the mediating factor between them remains unclear.Hence,this study aims to explore the mediating role of resilience in the influence of father absence on gratitude and forgiveness.Methods:1951 participants completed the Revision of the Father Absence Questionnaire,the Connor–Davidson Resilience Scale,the Gratitude Questionnaire–6 and the Tendency to Forgive Scale.Harman single factor test was conducted followed by confirmatory factor analysis to assess the data for potential common method deviation.Results:The results showed that:Father absence was negatively associated with gratitude and forgiveness.Moreover,we found that resilience mediated between father absence and gratitude and forgiveness.Conclusion:The findings demonstrate that the undesirable effects of father absence on prosocial qualities may be ameliorated by intervening in the mediating factor among them.In other words,improving the resilience of individuals with paternity deficiency may help improve their gratitude and forgiveness,which is of great significance for the intervention of prosocial quality in individuals with paternity deficiency.展开更多
This article presents a real-life project that aimed to evaluate the safety of traffic vehicles on old bridges without any prior data.The project involved various safety inspections,including conventional,static,and d...This article presents a real-life project that aimed to evaluate the safety of traffic vehicles on old bridges without any prior data.The project involved various safety inspections,including conventional,static,and dynamic load inspections and safety assessments.After conducting these tests,it was concluded that the structure of the old bridge is relatively safe,with only a few bumps.The bridge could function normally following appropriate treatment.The analysis provides valuable insights into the assessment of the quality and safety of such bridges to ensure the safe driving of heavy vehicles.展开更多
Fathers play an important role in children’s development throughout their lives,and Father-Love Absence(FLA)leads to more behavioral problems,including Non-Suicidal Self-Injury(NSSI).However,there has been no researc...Fathers play an important role in children’s development throughout their lives,and Father-Love Absence(FLA)leads to more behavioral problems,including Non-Suicidal Self-Injury(NSSI).However,there has been no research on the relationship between FLA and NSSI and its influencing mechanism.This study is based on Nock’s integrated theoretical model of NSSI,aiming to explore the influence of FLA on NSSI and further investigate the mechanism of Subjective Vitality(SV)and Forgiveness(FORG).This study recruited 1795 adolescents in central China to complete four scales,including Father-Love Absence Scale(FLAS),The Subjective Vitality Scale(SVS),The Tendency to Forgive Scale(TTF),and Non-Suicidal Self-Injury Scale.FLA can directly affect NSSI,and indirectly affect NSSI through three paths of“FLA→SV→NSSI,FLA→FORG→NSSI,FLA→SV→FORG→NSSI”.These results not only enrich our understanding of the relationship between FLA and NSSI and its internal mechanism but also provide theoretical and practical support for the reduction of NSSI in family education.展开更多
In this paper,we have asked what qualities individuals and organizations need for the success in the midst of large scale system transformation.Digital transformation is an example of such large-scale system change.Fi...In this paper,we have asked what qualities individuals and organizations need for the success in the midst of large scale system transformation.Digital transformation is an example of such large-scale system change.First,we have reviewed the empirical research on digital transformation and job redesign in order to explore qualities employees need to thrive in the digitally transformed job settings.Second,we have studied soft system regularities in order to tap into organizational-level qualities that allow for the successful large-scale system transformation.Based on these reviews,we have come up with the proposition that greater attention should be paid to the quality of the individual and collective awareness(defined as the capacity of expanded,inclusive attention).We have proposed that virtues in action and individual strengths(VIA-IS)to serve as a possible indicator of the quality of the individual awareness.Next,we have proposed that organizational presencing/absencing can serve as the possible indicator of the quality of organizational level awareness.Exploring the relationship between the individual awareness(indicated by VIA-IS)and organizational awareness(indicated by absencing/presencing)and organizational effectiveness revealed a set of compelling results:(1)The quality of personal level awareness(indicated by VIA-IS framework)varies significantly across different organizational positions,whereby middle managers hold the highest levels of individual awareness;and(2)presencing is positively associated with organizational performance,while absencing holds negative relationship.These findings reveal that quality of awareness(either at the individual and/or collective level)may be a promising line of organizational research with a decent predictive power in many organizational domains.展开更多
BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma...BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), and obtained abundant clinical diagnostic data. However, PIVKA-II and AFP have unsatisfactory specificity and sensitivity in the diagnosis of early-stage HBV-related HCC. Gamma-glutamyltransferase (γ-GT) and aspartate aminotransferase (AST) are common biomarkers for evaluating liver function, and we hypothesized that the γ-GT/AST ratio in combination with PIVKA-II and AFP would improve the diagnosis of early-stage HBV-related HCC. AIM To evaluate the diagnostic value of γ-GT/AST ratio alone or in combination with PIVKA-II and AFP in HBV-related HCC. METHODS Serum levels of γ-GT, AST, PIVKA-II, and AFP were detected and analysed in 176 patients with HBV-related HCC and in 359 patients with chronic hepatitis B. According to tumour size and serum level of HBV DNA, HBV-related HCC patients were divided into the following categories: Early-stage HCC patients, HCC patients, HBV DNA positive (HBV DNA+) HCC patients, and HBV DNA negative (HBV DNA-) HCC patients. Receiver-operating characteristic (ROC) curves were used to analyse and compare the diagnostic value of the single and combined detection of various biomarkers in different types of HBV-related HCC. RESULTS Tumour size was positively correlated with serum levels of PIVKA-II and AFP in HCC patients (r = 0.529, aP < 0.001 and r = 0.270, bP < 0.001, respectively), but there was no correlation between tumour size and the γ-GT/AST ratio (r = 0.073, P = 0.336). The areas under the receiver-operating characteristic curves (AUROCs) of the γ-GT/AST ratio in early-stage HCC patients, HBV DNA+ HCC patients and HBV DNA- HCC patients were not significantly different from that in the total HCC patients (0.754, 0.802, and 0.705 vs 0.779, respectively;P > 0.05). When PIVKA-II was combined with the γ-GT/AST ratio in the diagnosis of earlystage HCC, HCC, and HBV DNA+ HCC, the AUROCs of PIVKA-II increased, with values of 0.857 vs 0.835, 0.925 vs 0.913, and 0.958 vs 0.954, respectively. When AFP was combined with the γ-GT/AST ratio in the diagnosis of early-stage HCC, HCC, HBV DNA+ HCC, and HBV DNA- HCC, the AUROCs of AFP increased, with values of 0.757 vs 0.621, 0.837 vs 0.744, 0.868 vs 0.757, and 0.840 vs 0.828, respectively. CONCLUSION The γ-GT/AST ratio may be better than PIVKA-II and AFP in the diagnosis of early-stage HBV-related HCC, and its combination with PIVKA-II and AFP can improve the diagnostic value for HBV-related HCC.展开更多
Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC...Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC studies. This study aimed to compare the performance of PIVKA-Ⅱ with alpha-fetoprotein(AFP) in the diagnosis of HCC. Data sources: A systematic literature search was conducted to identify the studies from MEDLINE, Embase and Cochrane Library Databases, which were published up to December 20, 2017 to compare the diagnostic capability of PIVKA-Ⅱ and AFP for HCC. The data were pooled using random effects model. Pooled sensitivity and specificity were calculated. Summary receiver operating characteristic curve(ROC) was employed to evaluate the diagnostic accuracy of each marker. Results: Thirty-one studies were included. The pooled sensitivity(95% CI) of PIVKA-Ⅱ and AFP was 0.66(0.65–0.68) and 0.66(0.65–0.67), respectively in diagnosis of HCC; and the corresponding pooled specificity(95% CI) was 0.89(0.88–0.90) and 0.84(0.83–0.85), respectively. The area under the ROC curve(AUC) of PIVKA-Ⅱ and AFP was 0.856(0.817–0.895) and 0.770(0.728–0.811), respectively. Subgroup analysis showed that PIVKA-Ⅱ was superior to AFP in terms of the AUC for both small HCC( < 3 cm) [0.863(0.825–0.901) vs 0.717(0.658–0.776)] and large HCC( ≥ 3 cm) [0.854(0.811–0.897) vs 0.729(0.682–0.776)]; for American [0.926(0.897–0.955) vs 0.698(0.594–0.662)], European [0.772(0.743–0.801) vs 0.628(0.594–0.662)], Asian [0.838(0.812–0.864) vs 0.785(0.764–0.806)] and African [0.812(0.794–0.840) vs 0.721(0.675–0.767)] HCC patients; and for HBV-related [0.909(0.866–0.951) vs 0.714(0.673–0.755)] and mixed-etiology [0.847(0.821–0.873) vs 0.794(0.772–0.816)] HCC. Conclusion: This meta-analysis indicates that PIVKA-Ⅱ is better than AFP in terms of the accuracy for diagnosing HCC, regardless of tumor size, patient ethnic group, or HCC etiology.展开更多
Key FactsDefinition: Benign vertebral body vascular tumor.Classic imaging appearance: Hypodense lesion (CT) with coarse, verticallyoriented trabeculae;hyperintense (MRI) on both T1WI and T2WI.Most common spinal axis t...Key FactsDefinition: Benign vertebral body vascular tumor.Classic imaging appearance: Hypodense lesion (CT) with coarse, verticallyoriented trabeculae;hyperintense (MRI) on both T1WI and T2WI.Most common spinal axis tumor: (1) Incidental lesion identified on imaging performed for unrelated reasons. (2) Rarer presentation (clinical or radiographic) is “aggressive hemangioma”.Radiographic diagnostic criteria are lesion growth, bone destruction, vertebral collapse, absence of fat in lesion, and active vascular component.May extend epidurally and cause cord compression.展开更多
Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present w...Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension （PH） or portosystemic encephalopathy （PSE）, but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography （US）, computed tomography （CT） and magnetic resonance imaging （MR1）. The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient.展开更多
The evolutionary dynamics first conceived by Darwin and Wallace, referring to as Darwinian dynamics in the present paper, has been found to be universally valid in biology. The statistical mechanics and thermodynamics...The evolutionary dynamics first conceived by Darwin and Wallace, referring to as Darwinian dynamics in the present paper, has been found to be universally valid in biology. The statistical mechanics and thermodynamics, while enormous successful in physics, have been in an awkward situation of wanting a consistent dynamical understanding. Here we present from a formal point of view an exploration of the connection between thermodynamics and Darwinian dynamics and a few related topics. We first show that the stochasticity in Darwinian dynamics implies the existence temperature, hence the canonical distribution of Boltzmann-Gibbs type. In term of relative entropy the Second Law of thermodynamics is dynamically demonstrated without detailed balance condition, and is valid regardless of size of the system. In particular, the dynamical component responsible for breaking detailed balance condition does not contribute to the change of the relative entropy. Two types of stochastic dynamical equalities of current interest are explicitly discussed in the present approach： One is based on Feynman-Kac formula and another is a generalization of Einstein relation. Both are directly accessible to experimental tests. Our demonstration indicates that Darwinian dynamics represents logically a simple and straightforward starting point for statistical mechanics and thermodynamics and is complementary to and consistent with conservative dynamics that dominates the physical sciences. Present exploration suggests the existence of a unified stochastic dynamical framework both near and far from equilibrium.展开更多
Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequent...Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis （CF） frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR （TG）m（T）n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F5OSdel mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients （97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T）. Moreover, a statistically significant relationship between TG 12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.展开更多
When presented with an azoospermic patient, a thorough history and careful, considered physical examination often leads to a definite or presumptive diagnosis. An algorithmic, logical thought process is important to h...When presented with an azoospermic patient, a thorough history and careful, considered physical examination often leads to a definite or presumptive diagnosis. An algorithmic, logical thought process is important to have in mind when embarking on the evaluation. Adjunctive laboratory tests, such as hormonal assays or genetic studies, are often complementary and/or additive and allow a very precise determination to be made as to the etiologies, either genetic or acquired. It is only with this information that a therapeutic plan can be made for the patient. As will be discussed, a targeted approach to testing is far more satisfying and cost-effective than a blind, shotgun approach.展开更多
基金NERC(NE/L002585/1)the University of East Anglia for supporting and funding this research。
文摘Sustainable post-disaster recovery implies learning from past experience in order to prevent recreating forms of vulnerability.Memory construction supports both the healing process and redevelopment plans.Hence,memory of disaster results from the balance between remembering,forgetting,and absencing elements of the disaster,and can be both a tool and an obstacle to sustainable recovery.We explore here how collective memory is built in a post-disaster context to respond to the needs of this critical period,and how it shapes recovery.This ethnographic study,conducted between 2015 and 2017,explores the recovery processes in Montserrat,a small Caribbean island affected by an extended volcanic crisis from 1995 to 2010.Although this study does not give tangible solutions for disaster risk reduction in a post-disaster context,it highlights potential obstacles for learning from a disaster and how they may be surmounted.We argue that it is crucial to acknowledge evolving collective memory in order to implement effective measures for preserving and sharing a shared understanding of disaster across generations and social groups in a way that supports disaster risk awareness.We also maintain that acknowledging the dilemma faced by authorities and disaster management agencies during a period of conflicting needs may encourage the reconsideration of risk framing,and hence reveal how to improve implementation of disaster risk reduction measures.
基金Strategic Priority Research Program of Chinese Academy of Sciences(No.XDA24030205)National Natural Science Foundation of China(Nos.U21A20246,32102511)+3 种基金National Key Research and Development Program-Key Projects(2021YFD1200900 and 2021YFD1300904)Second Tibetan Plateau Scientific Expedition and Research Program(STEP)(No.2019QZKK0501)Biological Breeding-National Science and Technology Major Project(2023ZD0407106)Chinese Universities Scientific Fund(2024TC162).
文摘Background Unveiling genetic diversity features and understanding the genetic mechanisms of diverse goat pheno-types are pivotal in facilitating the preservation and utilization of these genetic resources.However,the total genetic diversity within a species can’t be captured by the reference genome of a single individual.The pan-genome is a col-lection of all the DNA sequences that occur in a species,and it is expected to capture the total genomic diversity of the specific species.Results We constructed a goat pan-genome using map-to-pan assemble based on 813 individuals,including 723 domestic goats and 90 samples from their wild relatives,which presented a broad regional and global represen-tation.In total,146 Mb sequences and 974 genes were identified as absent from the reference genome(ARS1.2;GCF_001704415.2).We identified 3,190 novel single nucleotide polymorphisms(SNPs)using the pan-genome analysis.These novel SNPs could properly reveal the population structure of domestic goats and their wild relatives.Presence/absence variation(PAV)analysis revealed gene loss and intense negative selection during domestication and improvement.Conclusions Our research highlights the importance of the goat pan-genome in capturing the missing genetic variations.It reveals the changes in genomic architecture during goat domestication and improvement,such as gene loss.This improves our understanding of the evolutionary and breeding history of goats.
基金funded by the Tuscany region(project Nat-NET)Project funded under the National Recovery and Resilience Plan(NRRP),Mission 4 Component 2 Investment 1.4-Call for tender No.3138 of 16 December 2021,rectified by Decree n.3175 of 18 December 2021 of Italian Ministry of University and Research funded by the European Union-NextGenerationEUProject code CN_00000033,Concession Decree No.1034 of 17 June 2022 adopted by the Italian Ministry of University and Research,CUP B63C22000650007,Project title“National Biodiversity Future Center-NBFC”.
文摘European beech(Fagus sylvatica L.)forests can have a high variability in plant species richness and abundance,from monospecific stands to highly species-rich communities.To understand what causes the low plant diversity observed in some beech forests,we analyzed the drivers of plant community completeness in 155 vegetation plots.Data were collected in mature,closed-canopy beech forests in Tuscany,central Italy.Site-specific species pools were estimated based on species co-occurrences.We used Generalized Least Squares linear modeling to assess the effects of anthropogenic and environmental drivers on the community completeness of whole communities and on the set of specialist species of beech forests.We also tested the response of the total cover of the herb layer to the selected predictors and related both the predictive and response variables to species composition in a Non-metric Multidimensional Scaling ordination.The community completeness of whole communities and that of beech forest specialists were negatively affected by total beech cover and positively influenced by slope.Moreover,the community completeness of whole communities was negatively impacted by elevation and positively influenced by disturbance frequency.The cover of the herb layer decreased with increasing beech cover,elevation,and precipitation.High community completeness and high cover of the herb layer were associated with the presence of thermophilic species of mixed deciduous woods in low-elevation beech forests.Our results suggest that a low plant community completeness and a low cover of the herb layer are mainly due to the competition by beech itself when it forms pure forests in its ecological optimum.Such competition is better exerted at upper elevations and in sites with low slopes,where beech litter accumulation is a limiting factor for understory species.Such evidence suggests that species absence in mature beech forests is mainly due to natural drivers and should therefore not be considered an indicator of ecological degradation of the forest.
基金supported by the National Natural Science Foundation of China(No.U1737201)。
文摘Manufacturing micro-holes in non-conductive ceramics presents significant challenges in precision machining,particularly due to the absence of central abrasive grains in micro-grinding wheels.This study investigates helical grinding under conditions where the central abrasive grain is absent,focusing on the formation of undeformed chips.It was observed that nearly all microgrinding wheels,regardless of their manufacturing process or grain size,exhibit a central grain absence,with larger grain sizes leading to more extensive absence areas.Analysis revealed that residual patterns at the bottom of machined holes depend on the ratio of the absence zone diameter to the wheel's eccentricity.Analytical models were developed to describe the heights of cylindrical and disc-shaped residues,which were subsequently validated through kinematic simulations.The removal mechanisms for these residues differ;cylindrical residues,which cannot be removed by grinding,cause interference and should be avoided,while disc-shaped residues removal depends on the protrusion height of the first grain,influencing contact with the wheel's end face and subsequent grinding actions.Experimental validation using SiC_(p)/Al demonstrated that cylindrical residues create distinct ring-shaped wear marks,significantly increasing cutting forces,whereas discshaped residues result in hat-shaped wear marks and higher cutting forces when the first grain's protrusion is insufficient.Additionally,inadequate lubrication and chip removal can lead to chip adhesion starting from the absence zone.These findings enhance the theoretical framework of helical grinding/milling and provide valuable insights for precision machining of micro-holes in nonconductive ceramics.
基金supported by the National Natural Science Foundation of China(grant No.82171588)the Fundamental Research Funds for the Central Institutes(grant No.2023GJZD01).
文摘Individuals with congenital absence of the vas deferens(CAVD)may transmit cystic fibrosis(CF)-causing variants of the cystic fibrosis transmembrane conductance regulator(CFTR)gene to their offspring through assisted reproductive technology(ART).We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis.CFTR was sequenced in 145 Chineseindividuals with CAVD.CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance.A comprehensive genotype analysis was performed in Chinese individuals with CAVD,incorporating previous studies and our study cohort.The prevalence of CF-causing variants was estimated through meta-analysis.In our cohort,56 differentCFTR variants were identified in 108(74.5%)patients.Twenty variants were categorized as CF-causing and were detected in 28(19.3%)patients.A comprehensive genotype analysis of 867 patients identified 174 differentCFTR variants.Sixty-four were classified as CF-causing variants,56.3%of which had not been previously reported in Chinese patients with CF.Meta-analysis showed that 14.8%(95%confidence interval[CI]:11.0%-18.9%)CAVD cases harbored one CF-causing variant,and 68.6%(95%CI:65.1%-72.0%)CAVD cases carried at least one CFTR variant.Our study underscores the urgent need for extensiveCFTR screening,including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants,in Chinese individuals with CAVDbefore undergoing ART.The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.
基金supported by Zhejiang Provincial Natural Science Foundation of China (LD24C130002)Scientific Research Foundation of China Jiliang University。
文摘A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of the plant.At low temperature,LTIA1 and LTIA2 redundantly affect chlorophyll levels,non-photochemical quenching,photosynthetic quantum yield of PSⅡand seedling growth.LTIA1 and LTIA2 proteins are involved in splicing of atp F and the biogenesis of 16S and 23S rRNA in chloroplasts.Presence/absence variation of LTIA1,the ancestral copy,was found only in japonica but that of LTIA2 in all rice subgroups.Accessions with LTIA2 presence tended to be distributed more remote from the equator compared to those with LTIA2 absence.LTIA2 duplicated from LTIA1 at the early stage of divergence of the AA genome Oryza species but deleted againin O.nivara.In cultivated rice,absence of LTIA2 is derived from O.nivara.LTIA1 absence occurred more recently in japonica.
基金funded by the National Natural Science Foundation of China(32370693 and U20A2034)Innovation Program of Chinese Academy of Agricultural Sciences(CAAS-CSIAF-202402)+1 种基金the Young Top-notch Talent Cultivation Program of Hubei Province for Dr.Chaobo Tong,the National Key Research and Development Program of China(2021YFD1600500)Central Public-interest Scientific Institution Basal Research Fund(2021-2060302-061-027,2021-2060302-061-029).
文摘Structural variations(SVs),a newly discovered genetic variation,have gained increasing recognition for their importance,yet much about them remains unknown.With the completion of whole-genome sequencing projects in oil crops,more SVs have been identified,revealing their types,genomic distribution,and characteristics.These findings have demonstrated the crucial roles of SVs in regulating gene expression,driving trait innovation,facilitating domestication,making this an opportune time for a systematic review.We summarized the progress of SV-related studies in oil crops,focusing on the types of SVs and their mechanisms of occurrence,the strategies and methods for SV detection,and the SVs identified in oil crops such as rapeseed,soybean,peanut,and sesame.The various types of SVs,such as presence-absence variations(PAVs),copy number variations(CNVs),and homeologous exchanges(HEs),have been shown.Along with their genomic characterization,their roles in crop domestication and breeding,and regulatory impact on gene expression and agronomic traits have also been demonstrated.This review will provide an overview of the SV research process in oil crops,enabling researchers to quickly understand key information and apply this knowledge in future studies and crop breeding.
基金the General Program of the National Socail Science Fund of China(23BSH144).
文摘Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-love absence on individual loneliness are not clear.Based on the social functionalist theory and the social needs theory,this study examines the influence of individual fatherlove absence on loneliness and its underlying mechanisms.A questionnaire survey was administered to 319 junior high school students and 1,476 high school students.The results showed that adolescents with father-love absence had higher levels of loneliness,and that father-love absence affected loneliness levels through mediating pathways of individual gratitude,peer relationships,and gratitude to peer relationships.This study not only confirms the negative effects of father-love absence on adolescents’loneliness,but also explains the mediate roles of individual gratitude and peer relationships.It enriches the theoretical system related to family education and has important theoretical and practical implications for further interventions on adolescents’mental health from the perspective of fatherless parenting.
基金supported by grants from the project The Study on the Impact of Father Love Absence on the Development of Adolescent Moral Sensitivity and Countermeasures(23BSH144).
文摘Background:Father absence has long been a popular issue in psychology due to its influence on adolescent well-being and development.Empirical studies have demonstrated the detrimental effects of father absence,such as disruptions in prosocial qualities like gratitude and forgiveness.However,the mediating factor between them remains unclear.Hence,this study aims to explore the mediating role of resilience in the influence of father absence on gratitude and forgiveness.Methods:1951 participants completed the Revision of the Father Absence Questionnaire,the Connor–Davidson Resilience Scale,the Gratitude Questionnaire–6 and the Tendency to Forgive Scale.Harman single factor test was conducted followed by confirmatory factor analysis to assess the data for potential common method deviation.Results:The results showed that:Father absence was negatively associated with gratitude and forgiveness.Moreover,we found that resilience mediated between father absence and gratitude and forgiveness.Conclusion:The findings demonstrate that the undesirable effects of father absence on prosocial qualities may be ameliorated by intervening in the mediating factor among them.In other words,improving the resilience of individuals with paternity deficiency may help improve their gratitude and forgiveness,which is of great significance for the intervention of prosocial quality in individuals with paternity deficiency.
文摘This article presents a real-life project that aimed to evaluate the safety of traffic vehicles on old bridges without any prior data.The project involved various safety inspections,including conventional,static,and dynamic load inspections and safety assessments.After conducting these tests,it was concluded that the structure of the old bridge is relatively safe,with only a few bumps.The bridge could function normally following appropriate treatment.The analysis provides valuable insights into the assessment of the quality and safety of such bridges to ensure the safe driving of heavy vehicles.
基金supported by the National Social Science Fund of China(23BSH144).
文摘Fathers play an important role in children’s development throughout their lives,and Father-Love Absence(FLA)leads to more behavioral problems,including Non-Suicidal Self-Injury(NSSI).However,there has been no research on the relationship between FLA and NSSI and its influencing mechanism.This study is based on Nock’s integrated theoretical model of NSSI,aiming to explore the influence of FLA on NSSI and further investigate the mechanism of Subjective Vitality(SV)and Forgiveness(FORG).This study recruited 1795 adolescents in central China to complete four scales,including Father-Love Absence Scale(FLAS),The Subjective Vitality Scale(SVS),The Tendency to Forgive Scale(TTF),and Non-Suicidal Self-Injury Scale.FLA can directly affect NSSI,and indirectly affect NSSI through three paths of“FLA→SV→NSSI,FLA→FORG→NSSI,FLA→SV→FORG→NSSI”.These results not only enrich our understanding of the relationship between FLA and NSSI and its internal mechanism but also provide theoretical and practical support for the reduction of NSSI in family education.
文摘In this paper,we have asked what qualities individuals and organizations need for the success in the midst of large scale system transformation.Digital transformation is an example of such large-scale system change.First,we have reviewed the empirical research on digital transformation and job redesign in order to explore qualities employees need to thrive in the digitally transformed job settings.Second,we have studied soft system regularities in order to tap into organizational-level qualities that allow for the successful large-scale system transformation.Based on these reviews,we have come up with the proposition that greater attention should be paid to the quality of the individual and collective awareness(defined as the capacity of expanded,inclusive attention).We have proposed that virtues in action and individual strengths(VIA-IS)to serve as a possible indicator of the quality of the individual awareness.Next,we have proposed that organizational presencing/absencing can serve as the possible indicator of the quality of organizational level awareness.Exploring the relationship between the individual awareness(indicated by VIA-IS)and organizational awareness(indicated by absencing/presencing)and organizational effectiveness revealed a set of compelling results:(1)The quality of personal level awareness(indicated by VIA-IS framework)varies significantly across different organizational positions,whereby middle managers hold the highest levels of individual awareness;and(2)presencing is positively associated with organizational performance,while absencing holds negative relationship.These findings reveal that quality of awareness(either at the individual and/or collective level)may be a promising line of organizational research with a decent predictive power in many organizational domains.
文摘BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), and obtained abundant clinical diagnostic data. However, PIVKA-II and AFP have unsatisfactory specificity and sensitivity in the diagnosis of early-stage HBV-related HCC. Gamma-glutamyltransferase (γ-GT) and aspartate aminotransferase (AST) are common biomarkers for evaluating liver function, and we hypothesized that the γ-GT/AST ratio in combination with PIVKA-II and AFP would improve the diagnosis of early-stage HBV-related HCC. AIM To evaluate the diagnostic value of γ-GT/AST ratio alone or in combination with PIVKA-II and AFP in HBV-related HCC. METHODS Serum levels of γ-GT, AST, PIVKA-II, and AFP were detected and analysed in 176 patients with HBV-related HCC and in 359 patients with chronic hepatitis B. According to tumour size and serum level of HBV DNA, HBV-related HCC patients were divided into the following categories: Early-stage HCC patients, HCC patients, HBV DNA positive (HBV DNA+) HCC patients, and HBV DNA negative (HBV DNA-) HCC patients. Receiver-operating characteristic (ROC) curves were used to analyse and compare the diagnostic value of the single and combined detection of various biomarkers in different types of HBV-related HCC. RESULTS Tumour size was positively correlated with serum levels of PIVKA-II and AFP in HCC patients (r = 0.529, aP < 0.001 and r = 0.270, bP < 0.001, respectively), but there was no correlation between tumour size and the γ-GT/AST ratio (r = 0.073, P = 0.336). The areas under the receiver-operating characteristic curves (AUROCs) of the γ-GT/AST ratio in early-stage HCC patients, HBV DNA+ HCC patients and HBV DNA- HCC patients were not significantly different from that in the total HCC patients (0.754, 0.802, and 0.705 vs 0.779, respectively;P > 0.05). When PIVKA-II was combined with the γ-GT/AST ratio in the diagnosis of earlystage HCC, HCC, and HBV DNA+ HCC, the AUROCs of PIVKA-II increased, with values of 0.857 vs 0.835, 0.925 vs 0.913, and 0.958 vs 0.954, respectively. When AFP was combined with the γ-GT/AST ratio in the diagnosis of early-stage HCC, HCC, HBV DNA+ HCC, and HBV DNA- HCC, the AUROCs of AFP increased, with values of 0.757 vs 0.621, 0.837 vs 0.744, 0.868 vs 0.757, and 0.840 vs 0.828, respectively. CONCLUSION The γ-GT/AST ratio may be better than PIVKA-II and AFP in the diagnosis of early-stage HBV-related HCC, and its combination with PIVKA-II and AFP can improve the diagnostic value for HBV-related HCC.
基金supported in part by the National Natural Sci-ence Foundation of China(81472284 and 81672699)Shanghai Pujiang Program(16PJD004)
文摘Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC studies. This study aimed to compare the performance of PIVKA-Ⅱ with alpha-fetoprotein(AFP) in the diagnosis of HCC. Data sources: A systematic literature search was conducted to identify the studies from MEDLINE, Embase and Cochrane Library Databases, which were published up to December 20, 2017 to compare the diagnostic capability of PIVKA-Ⅱ and AFP for HCC. The data were pooled using random effects model. Pooled sensitivity and specificity were calculated. Summary receiver operating characteristic curve(ROC) was employed to evaluate the diagnostic accuracy of each marker. Results: Thirty-one studies were included. The pooled sensitivity(95% CI) of PIVKA-Ⅱ and AFP was 0.66(0.65–0.68) and 0.66(0.65–0.67), respectively in diagnosis of HCC; and the corresponding pooled specificity(95% CI) was 0.89(0.88–0.90) and 0.84(0.83–0.85), respectively. The area under the ROC curve(AUC) of PIVKA-Ⅱ and AFP was 0.856(0.817–0.895) and 0.770(0.728–0.811), respectively. Subgroup analysis showed that PIVKA-Ⅱ was superior to AFP in terms of the AUC for both small HCC( < 3 cm) [0.863(0.825–0.901) vs 0.717(0.658–0.776)] and large HCC( ≥ 3 cm) [0.854(0.811–0.897) vs 0.729(0.682–0.776)]; for American [0.926(0.897–0.955) vs 0.698(0.594–0.662)], European [0.772(0.743–0.801) vs 0.628(0.594–0.662)], Asian [0.838(0.812–0.864) vs 0.785(0.764–0.806)] and African [0.812(0.794–0.840) vs 0.721(0.675–0.767)] HCC patients; and for HBV-related [0.909(0.866–0.951) vs 0.714(0.673–0.755)] and mixed-etiology [0.847(0.821–0.873) vs 0.794(0.772–0.816)] HCC. Conclusion: This meta-analysis indicates that PIVKA-Ⅱ is better than AFP in terms of the accuracy for diagnosing HCC, regardless of tumor size, patient ethnic group, or HCC etiology.
文摘Key FactsDefinition: Benign vertebral body vascular tumor.Classic imaging appearance: Hypodense lesion (CT) with coarse, verticallyoriented trabeculae;hyperintense (MRI) on both T1WI and T2WI.Most common spinal axis tumor: (1) Incidental lesion identified on imaging performed for unrelated reasons. (2) Rarer presentation (clinical or radiographic) is “aggressive hemangioma”.Radiographic diagnostic criteria are lesion growth, bone destruction, vertebral collapse, absence of fat in lesion, and active vascular component.May extend epidurally and cause cord compression.
文摘Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension （PH） or portosystemic encephalopathy （PSE）, but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography （US）, computed tomography （CT） and magnetic resonance imaging （MR1）. The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient.
基金The project supported in part by USA NIH Grant under HG002894
文摘The evolutionary dynamics first conceived by Darwin and Wallace, referring to as Darwinian dynamics in the present paper, has been found to be universally valid in biology. The statistical mechanics and thermodynamics, while enormous successful in physics, have been in an awkward situation of wanting a consistent dynamical understanding. Here we present from a formal point of view an exploration of the connection between thermodynamics and Darwinian dynamics and a few related topics. We first show that the stochasticity in Darwinian dynamics implies the existence temperature, hence the canonical distribution of Boltzmann-Gibbs type. In term of relative entropy the Second Law of thermodynamics is dynamically demonstrated without detailed balance condition, and is valid regardless of size of the system. In particular, the dynamical component responsible for breaking detailed balance condition does not contribute to the change of the relative entropy. Two types of stochastic dynamical equalities of current interest are explicitly discussed in the present approach： One is based on Feynman-Kac formula and another is a generalization of Einstein relation. Both are directly accessible to experimental tests. Our demonstration indicates that Darwinian dynamics represents logically a simple and straightforward starting point for statistical mechanics and thermodynamics and is complementary to and consistent with conservative dynamics that dominates the physical sciences. Present exploration suggests the existence of a unified stochastic dynamical framework both near and far from equilibrium.
文摘Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis （CF） frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR （TG）m（T）n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F5OSdel mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients （97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T）. Moreover, a statistically significant relationship between TG 12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.
文摘When presented with an azoospermic patient, a thorough history and careful, considered physical examination often leads to a definite or presumptive diagnosis. An algorithmic, logical thought process is important to have in mind when embarking on the evaluation. Adjunctive laboratory tests, such as hormonal assays or genetic studies, are often complementary and/or additive and allow a very precise determination to be made as to the etiologies, either genetic or acquired. It is only with this information that a therapeutic plan can be made for the patient. As will be discussed, a targeted approach to testing is far more satisfying and cost-effective than a blind, shotgun approach.
