A seeding strategy was developed in the preparation of cyclotetramethylenetetranitramine(HMX)explosive micro-particles by solvent-antisolvent method, to control their polymorphs from dangerous gamma(y) type to the des...A seeding strategy was developed in the preparation of cyclotetramethylenetetranitramine(HMX)explosive micro-particles by solvent-antisolvent method, to control their polymorphs from dangerous gamma(y) type to the desired and standard beta(β) form with the size distribution of <10.0 μm, by using a low concentration of β-HMX fine particles as micro-seed in the antisolvent medium. All products were characterized by X-ray diffraction(XRD), scanning electron microscopy(SEM), and dynamic light scattering particle size analyzer. In the next step, the effective factors on the sizes and morphologies of micro-particles in the presence and absence of two soft templates of poly(ethylene glycol)-400(PEG-400) polymer and coconut fatty acid diethanolamide(lauramide) surfactant were investigated. The results of experiments showed that using of water-soluble PEG-400 in the low antisolvent temperatures leads to the production of very spherical particles. Also non-ionic surfactant of lauramide, direct the crystal growth to needle-like structures. The advantages of this method are its capability for the simple production of β-HMX micro-particles in the large scale production process, with the various crystal structures and particles size distributions.展开更多
Simulating the typical carbonation step in a mineral CO_2 sequestration, precipitated calcium carbonate(PCC) was prepared by bubbling CO_2 gas into a rich Ca solution. These carbonation reactions were conducted at thr...Simulating the typical carbonation step in a mineral CO_2 sequestration, precipitated calcium carbonate(PCC) was prepared by bubbling CO_2 gas into a rich Ca solution. These carbonation reactions were conducted at three p H ranges, namely 10.0–9.0, 9.0–8.0, and 8.0–7.0, in which temperature and CO_2 flow rate are additional experimental variables. The PCC obtained in experiments was examined by Fourier transform infrared spectroscopy(FTIR)and X-ray diffraction(XRD). It was found that supersaturation determined by p H value and flow rate of CO_2 has significant influence on polymorph of PCC. Vaterite was preferably formed at high supersaturation, while dissolution of metastable vaterite and crystallization of calcite occurred at low supersaturation. High temperature is a critical factor for the formation of aragonite. At 70 °C, vaterite, calcite and aragonite were observed to coexist in PCC because transformation from vaterite to aragonite via calcite occurred at this temperature. Scanning electron microscopy(SEM) technology was performed on prepared PCC, and various morphologies consistent with polymorphs were observed.展开更多
Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),a...Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),and serve as evidence-based augmenters in treatment-resistant depression.Nonetheless,acute antipsychotic-induced movement disorders(AIMDs)[extrapyramidal symptoms(EPS)]are common and clinically costly,impairing quality of life,adherence,and outcomes.The acute spectrum is dominated by dystonia(sustained,often painful contractions).展开更多
As a distinctive unshaped refractory material used in steelmaking induction furnace linings,significant variations in raw material performance,particularly erosion resistance,have been observed across silica sources f...As a distinctive unshaped refractory material used in steelmaking induction furnace linings,significant variations in raw material performance,particularly erosion resistance,have been observed across silica sources from different regions.To clarify the causes of performance discrepancies and reveal the erosion resistance mechanisms,erosion resistance experiments were conducted on three quartzite raw materials from distinct regions.Furthermore,the enhancement effects of mineralizers on the raw material with the poorest performance were investigated,and the erosion resistance mechanisms of representative raw materials and mineralization effects in silica ramming materials were proposed.The results demonstrated that the presence of dolomite and iron oxide in raw materials is critical for improving the erosion resistance of silica ramming materials.However,the material with 1 wt.%dolomite as a standalone mineralizer exhibited optimal erosion resistance compared to iron oxide composite mineralizers.This improvement is attributed to the formation of uniformly distributed tridymite and an appropriate liquid phase,which mitigates volume expansion effects caused by quartz phase transformation,thereby minimizing aggregate cracking.Additionally,magnesium derived from dolomite plays a specialized role in the operational environment,with the synergistic effects of these two factors collectively enhancing the material’s erosion resistance.展开更多
Objective:To investigate the potential link between chromosomal polymorphisms in couples who had a medical history of idiopathic recurrent pregnancy loss.Methods:Cytogenetic investigation was conducted with mitogen(Ph...Objective:To investigate the potential link between chromosomal polymorphisms in couples who had a medical history of idiopathic recurrent pregnancy loss.Methods:Cytogenetic investigation was conducted with mitogen(Phytohemagglutinin-M,Gibco)stimulated blood T lymphocytes by Giemsa trypsin Giemsa banding and Ag-NOR banding on 580 couples with a history of idiopathic recurrent pregnancy loss and 240 couples from the general population.Thirty good chromosomal spreads were captured,karyotyped,and analyzed.The karyotypes were designated using the International System for Human Cytogenomic Nomenclature 2024.Pearson Chi-square test was used to compare the frequency of chromosomal polymorphism variations in the idiopathic recurrent pregnancy loss group with the general population group.Results:A conventional cytogenetic investigation revealed that 45.43%of couples experiencing idiopathic recurrent pregnancy loss presented with various types of chromosomal polymorphic variants,compared to 11.88%in the general population.The overall frequency of these chromosomal polymorphic variants was significantly higher in the idiopathic recurrent pregnancy loss group compared to the general population group(OR 9.97,95%CI 6.99-14.21;P<0.05).Additionally,the prevalence of polymorphic variants was higher among males(49.14%)than females(41.72%)(P=0.01).Conclusions:Chromosomal polymorphic analysis may play a crucial role in the assessment and careful clinical management of cases with idiopathic recurrent pregnancy loss,especially when no other conclusive reasons are identified during the initial evaluation.Therefore,heteromorphism should not be overlooked while investigating the causes of idiopathic recurrent pregnancy loss.展开更多
Chiral zeolites with intrinsically chiral frameworks are highly desired due to their potential applications in asymmetric catalysis and enantioseparation.Zeolite beta is an intergrowth of chiral polymorph A and achira...Chiral zeolites with intrinsically chiral frameworks are highly desired due to their potential applications in asymmetric catalysis and enantioseparation.Zeolite beta is an intergrowth of chiral polymorph A and achiral polymorph B in a ratio of ca.44:56.The synthesis of chiral polymorph A of zeolite beta or chiral polymorph A-enriched zeolite beta is one of the biggest challenges.By performing a series of control experiments,we identified the key factor promoting the enrichment of chiral polymorph A in pure-silica zeolite beta,i.e.the acidity of the initial mixture.With this discovery,we developed a generalized non-hydrofluoric acid-assisted synthesis route to synthesize polymorph A-enriched pure-silica zeolite beta.Zeolite beta crystals containing more than 70%chiral polymorph A were obtained.This acid assisted method could not only significantly enrich polymorph A in the crystals of pure-silica zeolite beta but also provide a way for avoiding the utilization of highly toxic concentrated hydrofluoric acid.展开更多
The synthesis of a chiral polymorph A of zeolite beta or a chiral polymorph A-enriched zeolite beta is highly desired.A green route for the synthesis of chiral polymorph A-enriched zeolite beta in the absence of highl...The synthesis of a chiral polymorph A of zeolite beta or a chiral polymorph A-enriched zeolite beta is highly desired.A green route for the synthesis of chiral polymorph A-enriched zeolite beta in the absence of highly toxic concentrated hydrofluoric acid is demonstrated.展开更多
CsGaS2-mC64 was obtained by reaction of CsN_(3) with stoichiometric amounts of Ga_(2)S_(3) and S at elevated temperatures.The crystal structure of the air-and moisture stable compound was determined from single-crysta...CsGaS2-mC64 was obtained by reaction of CsN_(3) with stoichiometric amounts of Ga_(2)S_(3) and S at elevated temperatures.The crystal structure of the air-and moisture stable compound was determined from single-crystal X-ray diffraction data.The colourless solid crystallizes in the monoclinic space group C_(2)/c(no.15)with the lattice parameters a=10.5718(6)Å,b=10.5708(6)Å,c=16.0847(8)Å,β=99.445(4)°,V=1773.1(2)Å3,and Z=16.The compound crystallizes in the TlGaSe_(2) structure type and features anionic layers 21[Ga_(4)S_(8)^(4−)]consisting of corner-sharing Ga4S10 supertetrahedra.At temperatures above 600℃ an irreversible phase-transition to CsGaS_(2)-mC16 occurs.The phase-transition kinetics were studied using in situ high-temperature X-ray powder diffraction techniques.This transition can only be reversed by using high pressures(>5 GPa at 500℃).The compound was further characterized using Raman-and diffuse reflectance spectroscopy.Chemical bonding was analysed by DFT calculations.展开更多
BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis th...BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent ligands.AIM To evaluate the correlation between single nucleotide polymorphisms(SNPs)of ACVR1C and susceptibility to esophageal squamous cell carcinoma(ESCC)in Chinese Han population.METHODS In this hospital-based cohort study,1043 ESCC patients and 1143 healthy controls were enrolled.Five SNPs(rs4664229,rs4556933,rs77886248,rs77263459,rs6734630)of ACVR1C were assessed by the ligation detection reaction method.Hardy-Weinberg equilibrium test,genetic model analysis,stratified analysis,linkage disequi-librium test,and haplotype analysis were conducted.RESULTS Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC,and those with rs77886248 TA mutant were related with higher risk,especially in older male smokers.In the haplotype analysis,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 was associated with lower susceptibility to ESCC.CONCLUSION ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC,which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population.展开更多
Methylenetetrahydrofolate reductase(MTHFR)is a key enzyme in folate metabolism.Its genetic polymorphisms affect the metabolism of methyl donors,including folate and betaine,and are consequently associated with the dev...Methylenetetrahydrofolate reductase(MTHFR)is a key enzyme in folate metabolism.Its genetic polymorphisms affect the metabolism of methyl donors,including folate and betaine,and are consequently associated with the development of various chronic diseases such as stroke and neoplasms.Methods This umbrella review,covering the period from 2006 to 2025,searched PubMed,Embase,Web of Science,Medline,CNKI,WanFang,and Cochrane Library databases for published systematic reviews and meta-analyses of polymorphisms relating to the MTHFR C677T and A1298C gene polymorphisms and various chronic diseases.Subsequently,this study assessed methodological quality with AMSTAR-2,while the strength of evidence for each outcome was graded according to the GRADE and the credibility evaluation.This umbrella review included 39 studies related to 8 diseases classified according to the ICD-10 classification.Results Overall,C677T exhibited a positive correlation with depression(allele:OR=1.18,95%CI:1.13-1.24;dominant:OR=1.16,95%CI:1.09-1.23;recessive:OR=1.42,95%CI:1.30-1.56;homozygote:OR=1.48,95%CI:1.34-1.63),and polycystic ovary syndrome(allele:OR=1.35,95%CI:1.24-1.46;dominant:OR=1.46,95%CI:1.30-1.64;recessive:OR=1.39,95%CI:1.19-1.62;homozygote:OR=1.63,95%CI:1.38-1.93),and exhibited a negative correlation with oral cancer(allele:OR=0.24,95%CI:0.22-0.26;dominant:OR=0.14,95%CI:0.12-0.16;recessive:OR=0.31,95%CI:0.28-0.35;homozygote:OR=0.14,95%CI:0.12-0.16).A1298C was positively associated with polycystic ovary syndrome in four models(allele:OR=1.93,95%CI:1.67-2.21;dominant:OR=1.93,95%CI:1.64-2.27;recessive:OR=3.72,95%CI:2.47-5.61;homozygote:OR=4.38,95%CI:2.90-6.62).Conclusion The MTHFR C677T and A1298C gene polymorphisms demonstrated significant associations with non-communicable diseases,thereby contributing to the advancement of precision medicine.展开更多
Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wil...Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wild C.oleifera can serve as a case for studying the molecular bases of adaptive evolution to freezing stress.Here,47 wild C.oleifera from 11 natural distribution sites in China and 4 relative species of C.oleifera were selected for genome sequencing.“Min Temperature of Coldest Month”(BIO6)had the highest comprehensive contribution to wild C.oleifera distribution.The population genetic structure of wild C.oleifera could be divided into two groups:in cold winter(BIO6≤0℃)and warm winter(BIO6>0℃)areas.Wild C.oleifera in cold winter areas might have experienced stronger selection pressures and population bottlenecks with lower N_(e) than those in warm winter areas.155 singlenucleotide polymorphisms(SNPs)were significantly correlated with the key bioclimatic variables(106 SNPs significantly correlated with BIO6).Twenty key SNPs and 15 key copy number variation regions(CNVRs)were found with genotype differentiation>50%between the two groups of wild C.oleifera.Key SNPs in cis-regulatory elements might affect the expression of key genes associated with freezing tolerance,and they were also found within a CNVR suggesting interactions between them.Some key CNVRs in the exon regions were closely related to the differentially expressed genes under freezing stress.The findings suggest that rich SNPs and CNVRs in polyploid trees may contribute to the adaptive evolution to freezing stress.展开更多
BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associat...BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme activity.AIM To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.METHODS A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD testing.Among the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including DPYD6.RESULTS Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy delay.CONCLUSION Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity.展开更多
The two-dimensional van der Waals layered semiconductor In_(2)Se_(3) has emerged as a promising candidate for non-volatile ferroelectric memory,optoelectronic devices,and polymorphic phase engineering.Polymorphic In_(...The two-dimensional van der Waals layered semiconductor In_(2)Se_(3) has emerged as a promising candidate for non-volatile ferroelectric memory,optoelectronic devices,and polymorphic phase engineering.Polymorphic In_(2)Se_(3) typically stabilizes in three distinct phases:α-,β′-,and β^(*)-In_(2)Se_(3),each dominant within specific temperature ranges.Although the crystal structures and ferroelectric properties of these phases have been widely studied,the unambiguous assignment of their in-plane and out-of-plane ferroelectric behaviors,as well as the mechanisms governing their phase transitions,remains a subject of active debate.In this study,we investigate the evolution of atomic and electronic structures in molecular beam epitaxy-grown ultrathin In_(2)Se_(3) films through correlated microstructural and macroscopic physical property analysis.By employing scanning tunneling microscopy/spectroscopy,temperature-dependent Raman spectroscopy,and piezoresponse force microscopy,we demonstrate a reversible temperature-induced phase transition between the in-plane ferroelectric β^(*)and antiferroelectric β′phases.Furthermore,we confirm robust out-of-plane ferroelectric polarization in the as-grown films and achieve an electric-field-driven transition from the β^(*)to β′phase.Our findings not only advance the fundamental understanding of phase transitions and polarization evolution in two-dimensional semiconductors but also open new avenues for the design of tunable,non-volatile ferroelectric memory devices.展开更多
In our work,polymorphism strategy has been successfully applied to tune up chromism and luminescence properties of viologen-based materials.Two polymorphs of viologen-based complexes ofα-CdBr_(2)(PHSQ)_(2)(H_(2)O)_(2...In our work,polymorphism strategy has been successfully applied to tune up chromism and luminescence properties of viologen-based materials.Two polymorphs of viologen-based complexes ofα-CdBr_(2)(PHSQ)_(2)(H_(2)O)_(2)(1)andβ-CdBr_(2)(PHSQ)_(2)(H_(2)O)_(2)(2)(PHSQ=N-(4-sulfophenyl)-4,4-bipyridinium)were synthesized by changing the solvent.They can both respond to UV light and electricity in the manner of chromism visible to the naked eye and the coloration states have good reversibility,through which an inkless erasable printing model has been established.But the coloration contrast of 1 is higher compared to 2.Meanwhile,they both exhibit photoluminescence properties and the intensity of 1 is twice that of 2,which is accompanied by photoquenching upon continuous UV light irradiation.The only divergence of disordered/ordered O atoms in the two crystalline compounds leads to significantly different chromic and luminescent properties.Further explorations simultaneously demonstrate that the different chromic performance between 1 and 2 should attribute to the alteration of stimulus-induced(light/electricity)electron transfer channels caused by the ordered/disordered O atoms in the complexes,which is achieved through C-H···O and O-H···O interactions to change crystal arrangement and structural rigidity,thus affect luminescent properties.展开更多
BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as ...BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as targeted polymerase chain reaction technology),and current findings remain inconsistent.AIM To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.METHODS Whole-exome sequencing(WES)was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD,focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects.A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.RESULTS WES was performed on 70 children with ASD,and the case-control study included 170 children with ASD and 170 healthy controls.WES revealed that 84.3%(59/70)of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models(P<0.05).The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations,body and object use,social and adaptive skills,total scores on the Autism Behavior Checklist,as well as emotional reactivity,nonverbal communication,and activity level on the Childhood Autism Rating Scale(P<0.05).CONCLUSION Most children with ASD carry deleterious variants in folate metabolism-related pathways.MTHFR C677T and MTRR A66G mutations are significantly associated with ASD.展开更多
BACKGROUND There are conflicting results on the potential correlation between folic acid and gestational diabetes mellitus(GDM),and the correlation between genetic factors related to folic acid metabolism pathways and...BACKGROUND There are conflicting results on the potential correlation between folic acid and gestational diabetes mellitus(GDM),and the correlation between genetic factors related to folic acid metabolism pathways and GDM remains to be revealed.AIM To examine the association between single-nucleotide polymorphisms(SNPs)of enzyme genes in the folate metabolite pathway as well as that between GDM-related genes and risk for GDM.METHODS A nested case-control study was conducted with GDM cases(n=412)and healthy controls(n=412).DNA was extracted blood samples and SNPs were genotyped using Agena Bioscience’s MassARRAY gene mass spectrometry system.The associations between different SNPs of genes and the risk for GDM were estimated using logistic regression models.The generalized multi-factor dimensionality reduction(GMDR)method was used to analyze gene-gene and gene-environment interactions using the GMDR 0.9 software.RESULTS The variation allele frequency of melatonin receptor 1B(MTNR1B)rs10830963 was higher in the GDM group than in controls(P<0.05).MTNR1B rs10830963 mutant G was associated with risk for GDM[adjusted odds ratio(aOR):1.43;95%confidence interval(95%CI):1.13-1.80]in the additive model.MTNR1B rs10830963 GG+GC was significantly associated with the risk for GDM(aOR:1.65;95%CI:1.23-2.22)in the dominant model.The two-locus model of MTNR1B rs10830963 and CHEMERIN rs4721 was the best model(P<0.05)for gene-gene interactions in the GMDR results.The high-risk rs10830963×rs4721 type of interaction was a risk factor for GDM(aOR:2.09;95%CI:1.49-2.93).CONCLUSION This study does not find an association between SNPs of folate metabolic enzymes and risk for GDM.The G mutant allele of MTNR1B rs10830963 is identified as a risk factor for GDM in the additive model,and there may be gene-gene interactions between MTNR1B rs10830963 and CHEMERIN rs4721.It is conducive to studying the causes of GDM and provides a new perspective for the precise prevention of this disease.展开更多
Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic qu...Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.展开更多
Fluoropyrimidines(FP),including 5-fluorouracil and its prodrug capecitabine,are commonly employed in treating various solid tumors.Nonetheless,their use is frequently constrained by severe toxicities in 20%-30%of pati...Fluoropyrimidines(FP),including 5-fluorouracil and its prodrug capecitabine,are commonly employed in treating various solid tumors.Nonetheless,their use is frequently constrained by severe toxicities in 20%-30%of patients.Pharmacogenetic testing for dihydropyrimidine dehydrogenase(DPYD)deficiency,based on DPYD polymorphisms,has notably decreased severe adverse events,improving the safety of FP therapy.A recent D'Amato et al study evaluated the prevalence of DPYD polymorphisms and their effect on FP tolerability among Italian patients with gastrointestinal cancers.Although this study provided important insights into the significance of DPYD testing,its retrospective nature,inconsistency in testing DPYD variants,and lack of consideration for socioeconomic and confounding factors showed considerable limitations.Expanding the screening to include DPYD variants,addressing confounding biases through robust statistical analyses,and implementing prospective studies are critical next steps to strengthen the clinical evidence.Furthermore,the absence of a comprehensive cost-effectiveness analysis highlights the need for further financial assessments to advocate for broader implementation.We emphasized integrating DPYD-guided dosing,pre-treatment genetic counseling,and standardized testing procedures into clinical practice to improve patient outcomes and minimize treatment-related toxicities.展开更多
High-pressure β-Sn germanium may transform into diverse metastable allotropes with distinctive nanostructures and unique physical properties via multiple pathways under decompression.However,the mechanism and transit...High-pressure β-Sn germanium may transform into diverse metastable allotropes with distinctive nanostructures and unique physical properties via multiple pathways under decompression.However,the mechanism and transition kinetics remain poorly understood.Here,we investigate the formation of metastable phases and nanostructures in germanium via controllable transition pathways of β-Sn Ge under rapid decompression at different rates.High-resolution transmission electron microscopy reveals three distinct metastable phases with the distinctive nanostructures:an almost perfect st12 Ge crystal,nanosized bc8/r8 structures with amorphous boundaries,and amorphous Ge with nanosized clusters (0.8–2.5 nm).Fast in situ x-ray diffraction and x-ray absorption measurements indicate that these nanostructured products form in certain pressure regions via distinct kinetic pathways and are strongly correlated with nucleation rates and electronic transitions mediated by compression rate,temperature,and stress.This work provides deep insight into the controllable synthesis of metastable materials with unique crystal symmetries and nanostructures for potential applications.展开更多
Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on sp...Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.展开更多
基金financial support of this work by Malek-ashtar University of Technology(I.R.Iran)Grant No.1395064
文摘A seeding strategy was developed in the preparation of cyclotetramethylenetetranitramine(HMX)explosive micro-particles by solvent-antisolvent method, to control their polymorphs from dangerous gamma(y) type to the desired and standard beta(β) form with the size distribution of <10.0 μm, by using a low concentration of β-HMX fine particles as micro-seed in the antisolvent medium. All products were characterized by X-ray diffraction(XRD), scanning electron microscopy(SEM), and dynamic light scattering particle size analyzer. In the next step, the effective factors on the sizes and morphologies of micro-particles in the presence and absence of two soft templates of poly(ethylene glycol)-400(PEG-400) polymer and coconut fatty acid diethanolamide(lauramide) surfactant were investigated. The results of experiments showed that using of water-soluble PEG-400 in the low antisolvent temperatures leads to the production of very spherical particles. Also non-ionic surfactant of lauramide, direct the crystal growth to needle-like structures. The advantages of this method are its capability for the simple production of β-HMX micro-particles in the large scale production process, with the various crystal structures and particles size distributions.
基金Supported by the National Natural Science Foundation of China(41471412)
文摘Simulating the typical carbonation step in a mineral CO_2 sequestration, precipitated calcium carbonate(PCC) was prepared by bubbling CO_2 gas into a rich Ca solution. These carbonation reactions were conducted at three p H ranges, namely 10.0–9.0, 9.0–8.0, and 8.0–7.0, in which temperature and CO_2 flow rate are additional experimental variables. The PCC obtained in experiments was examined by Fourier transform infrared spectroscopy(FTIR)and X-ray diffraction(XRD). It was found that supersaturation determined by p H value and flow rate of CO_2 has significant influence on polymorph of PCC. Vaterite was preferably formed at high supersaturation, while dissolution of metastable vaterite and crystallization of calcite occurred at low supersaturation. High temperature is a critical factor for the formation of aragonite. At 70 °C, vaterite, calcite and aragonite were observed to coexist in PCC because transformation from vaterite to aragonite via calcite occurred at this temperature. Scanning electron microscopy(SEM) technology was performed on prepared PCC, and various morphologies consistent with polymorphs were observed.
文摘Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),and serve as evidence-based augmenters in treatment-resistant depression.Nonetheless,acute antipsychotic-induced movement disorders(AIMDs)[extrapyramidal symptoms(EPS)]are common and clinically costly,impairing quality of life,adherence,and outcomes.The acute spectrum is dominated by dystonia(sustained,often painful contractions).
基金the National Natural Science Foundation of China(U24A20101).
文摘As a distinctive unshaped refractory material used in steelmaking induction furnace linings,significant variations in raw material performance,particularly erosion resistance,have been observed across silica sources from different regions.To clarify the causes of performance discrepancies and reveal the erosion resistance mechanisms,erosion resistance experiments were conducted on three quartzite raw materials from distinct regions.Furthermore,the enhancement effects of mineralizers on the raw material with the poorest performance were investigated,and the erosion resistance mechanisms of representative raw materials and mineralization effects in silica ramming materials were proposed.The results demonstrated that the presence of dolomite and iron oxide in raw materials is critical for improving the erosion resistance of silica ramming materials.However,the material with 1 wt.%dolomite as a standalone mineralizer exhibited optimal erosion resistance compared to iron oxide composite mineralizers.This improvement is attributed to the formation of uniformly distributed tridymite and an appropriate liquid phase,which mitigates volume expansion effects caused by quartz phase transformation,thereby minimizing aggregate cracking.Additionally,magnesium derived from dolomite plays a specialized role in the operational environment,with the synergistic effects of these two factors collectively enhancing the material’s erosion resistance.
基金funded by the Technology Development Board(TDB)of India's Ministry of Science and Technology(TDB/M-25/2018-19).
文摘Objective:To investigate the potential link between chromosomal polymorphisms in couples who had a medical history of idiopathic recurrent pregnancy loss.Methods:Cytogenetic investigation was conducted with mitogen(Phytohemagglutinin-M,Gibco)stimulated blood T lymphocytes by Giemsa trypsin Giemsa banding and Ag-NOR banding on 580 couples with a history of idiopathic recurrent pregnancy loss and 240 couples from the general population.Thirty good chromosomal spreads were captured,karyotyped,and analyzed.The karyotypes were designated using the International System for Human Cytogenomic Nomenclature 2024.Pearson Chi-square test was used to compare the frequency of chromosomal polymorphism variations in the idiopathic recurrent pregnancy loss group with the general population group.Results:A conventional cytogenetic investigation revealed that 45.43%of couples experiencing idiopathic recurrent pregnancy loss presented with various types of chromosomal polymorphic variants,compared to 11.88%in the general population.The overall frequency of these chromosomal polymorphic variants was significantly higher in the idiopathic recurrent pregnancy loss group compared to the general population group(OR 9.97,95%CI 6.99-14.21;P<0.05).Additionally,the prevalence of polymorphic variants was higher among males(49.14%)than females(41.72%)(P=0.01).Conclusions:Chromosomal polymorphic analysis may play a crucial role in the assessment and careful clinical management of cases with idiopathic recurrent pregnancy loss,especially when no other conclusive reasons are identified during the initial evaluation.Therefore,heteromorphism should not be overlooked while investigating the causes of idiopathic recurrent pregnancy loss.
基金financial support from the National Natural Science Foundation of China(21571075,21320102001,and 21621001)the National Key Research and Development Program of China(Grant no.2016YFB0701100)+1 种基金the 111 Project(B17020 and B12015)the Program for JLU Science and Technology Innovative Research Team.
文摘Chiral zeolites with intrinsically chiral frameworks are highly desired due to their potential applications in asymmetric catalysis and enantioseparation.Zeolite beta is an intergrowth of chiral polymorph A and achiral polymorph B in a ratio of ca.44:56.The synthesis of chiral polymorph A of zeolite beta or chiral polymorph A-enriched zeolite beta is one of the biggest challenges.By performing a series of control experiments,we identified the key factor promoting the enrichment of chiral polymorph A in pure-silica zeolite beta,i.e.the acidity of the initial mixture.With this discovery,we developed a generalized non-hydrofluoric acid-assisted synthesis route to synthesize polymorph A-enriched pure-silica zeolite beta.Zeolite beta crystals containing more than 70%chiral polymorph A were obtained.This acid assisted method could not only significantly enrich polymorph A in the crystals of pure-silica zeolite beta but also provide a way for avoiding the utilization of highly toxic concentrated hydrofluoric acid.
基金the National Natural Science Foundation of China(21571075,21320102001,21621001)the National Key Research and Development Program of China(Grant No.2016YFB0701100)+1 种基金the 111 Project(B17020 and B12015)the Program for JLU Science and Technology Innovative Research Team.
文摘The synthesis of a chiral polymorph A of zeolite beta or a chiral polymorph A-enriched zeolite beta is highly desired.A green route for the synthesis of chiral polymorph A-enriched zeolite beta in the absence of highly toxic concentrated hydrofluoric acid is demonstrated.
文摘CsGaS2-mC64 was obtained by reaction of CsN_(3) with stoichiometric amounts of Ga_(2)S_(3) and S at elevated temperatures.The crystal structure of the air-and moisture stable compound was determined from single-crystal X-ray diffraction data.The colourless solid crystallizes in the monoclinic space group C_(2)/c(no.15)with the lattice parameters a=10.5718(6)Å,b=10.5708(6)Å,c=16.0847(8)Å,β=99.445(4)°,V=1773.1(2)Å3,and Z=16.The compound crystallizes in the TlGaSe_(2) structure type and features anionic layers 21[Ga_(4)S_(8)^(4−)]consisting of corner-sharing Ga4S10 supertetrahedra.At temperatures above 600℃ an irreversible phase-transition to CsGaS_(2)-mC16 occurs.The phase-transition kinetics were studied using in situ high-temperature X-ray powder diffraction techniques.This transition can only be reversed by using high pressures(>5 GPa at 500℃).The compound was further characterized using Raman-and diffuse reflectance spectroscopy.Chemical bonding was analysed by DFT calculations.
基金Supported by The National Natural Science Foundation of China,No.82350127 and No.82241013the Shanghai Natural Science Foundation,No.20ZR1411600+2 种基金the Shanghai Shenkang Hospital Development Center,No.SHDC2020CR4039the Bethune Ethicon Excellent Surgery Foundation,No.CESS2021TC04Xuhui District Medical Research Project of Shanghai,No.SHXH201805.
文摘BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent ligands.AIM To evaluate the correlation between single nucleotide polymorphisms(SNPs)of ACVR1C and susceptibility to esophageal squamous cell carcinoma(ESCC)in Chinese Han population.METHODS In this hospital-based cohort study,1043 ESCC patients and 1143 healthy controls were enrolled.Five SNPs(rs4664229,rs4556933,rs77886248,rs77263459,rs6734630)of ACVR1C were assessed by the ligation detection reaction method.Hardy-Weinberg equilibrium test,genetic model analysis,stratified analysis,linkage disequi-librium test,and haplotype analysis were conducted.RESULTS Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC,and those with rs77886248 TA mutant were related with higher risk,especially in older male smokers.In the haplotype analysis,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 was associated with lower susceptibility to ESCC.CONCLUSION ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC,which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population.
文摘Methylenetetrahydrofolate reductase(MTHFR)is a key enzyme in folate metabolism.Its genetic polymorphisms affect the metabolism of methyl donors,including folate and betaine,and are consequently associated with the development of various chronic diseases such as stroke and neoplasms.Methods This umbrella review,covering the period from 2006 to 2025,searched PubMed,Embase,Web of Science,Medline,CNKI,WanFang,and Cochrane Library databases for published systematic reviews and meta-analyses of polymorphisms relating to the MTHFR C677T and A1298C gene polymorphisms and various chronic diseases.Subsequently,this study assessed methodological quality with AMSTAR-2,while the strength of evidence for each outcome was graded according to the GRADE and the credibility evaluation.This umbrella review included 39 studies related to 8 diseases classified according to the ICD-10 classification.Results Overall,C677T exhibited a positive correlation with depression(allele:OR=1.18,95%CI:1.13-1.24;dominant:OR=1.16,95%CI:1.09-1.23;recessive:OR=1.42,95%CI:1.30-1.56;homozygote:OR=1.48,95%CI:1.34-1.63),and polycystic ovary syndrome(allele:OR=1.35,95%CI:1.24-1.46;dominant:OR=1.46,95%CI:1.30-1.64;recessive:OR=1.39,95%CI:1.19-1.62;homozygote:OR=1.63,95%CI:1.38-1.93),and exhibited a negative correlation with oral cancer(allele:OR=0.24,95%CI:0.22-0.26;dominant:OR=0.14,95%CI:0.12-0.16;recessive:OR=0.31,95%CI:0.28-0.35;homozygote:OR=0.14,95%CI:0.12-0.16).A1298C was positively associated with polycystic ovary syndrome in four models(allele:OR=1.93,95%CI:1.67-2.21;dominant:OR=1.93,95%CI:1.64-2.27;recessive:OR=3.72,95%CI:2.47-5.61;homozygote:OR=4.38,95%CI:2.90-6.62).Conclusion The MTHFR C677T and A1298C gene polymorphisms demonstrated significant associations with non-communicable diseases,thereby contributing to the advancement of precision medicine.
基金funded by the National Natural Science Foundation of China(grant no.32270238 and 31870311).
文摘Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wild C.oleifera can serve as a case for studying the molecular bases of adaptive evolution to freezing stress.Here,47 wild C.oleifera from 11 natural distribution sites in China and 4 relative species of C.oleifera were selected for genome sequencing.“Min Temperature of Coldest Month”(BIO6)had the highest comprehensive contribution to wild C.oleifera distribution.The population genetic structure of wild C.oleifera could be divided into two groups:in cold winter(BIO6≤0℃)and warm winter(BIO6>0℃)areas.Wild C.oleifera in cold winter areas might have experienced stronger selection pressures and population bottlenecks with lower N_(e) than those in warm winter areas.155 singlenucleotide polymorphisms(SNPs)were significantly correlated with the key bioclimatic variables(106 SNPs significantly correlated with BIO6).Twenty key SNPs and 15 key copy number variation regions(CNVRs)were found with genotype differentiation>50%between the two groups of wild C.oleifera.Key SNPs in cis-regulatory elements might affect the expression of key genes associated with freezing tolerance,and they were also found within a CNVR suggesting interactions between them.Some key CNVRs in the exon regions were closely related to the differentially expressed genes under freezing stress.The findings suggest that rich SNPs and CNVRs in polyploid trees may contribute to the adaptive evolution to freezing stress.
文摘BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme activity.AIM To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.METHODS A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD testing.Among the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including DPYD6.RESULTS Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy delay.CONCLUSION Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity.
基金supported by the National Natural Science Foundation of China(Grant Nos.92365203,12534013,12174096,and 12474167)the Hunan Provincial Science Fund for Distinguished Young Scholars(Grant No.2022JJ10060)+1 种基金the Science and Technology Innovation Program of Hunan Province(Grant Nos.2025ZYJ001 and 2021RC4026)the Science Fund for Self-initiated Innovation of NUDT。
文摘The two-dimensional van der Waals layered semiconductor In_(2)Se_(3) has emerged as a promising candidate for non-volatile ferroelectric memory,optoelectronic devices,and polymorphic phase engineering.Polymorphic In_(2)Se_(3) typically stabilizes in three distinct phases:α-,β′-,and β^(*)-In_(2)Se_(3),each dominant within specific temperature ranges.Although the crystal structures and ferroelectric properties of these phases have been widely studied,the unambiguous assignment of their in-plane and out-of-plane ferroelectric behaviors,as well as the mechanisms governing their phase transitions,remains a subject of active debate.In this study,we investigate the evolution of atomic and electronic structures in molecular beam epitaxy-grown ultrathin In_(2)Se_(3) films through correlated microstructural and macroscopic physical property analysis.By employing scanning tunneling microscopy/spectroscopy,temperature-dependent Raman spectroscopy,and piezoresponse force microscopy,we demonstrate a reversible temperature-induced phase transition between the in-plane ferroelectric β^(*)and antiferroelectric β′phases.Furthermore,we confirm robust out-of-plane ferroelectric polarization in the as-grown films and achieve an electric-field-driven transition from the β^(*)to β′phase.Our findings not only advance the fundamental understanding of phase transitions and polarization evolution in two-dimensional semiconductors but also open new avenues for the design of tunable,non-volatile ferroelectric memory devices.
基金financially supported by the National Natural Science Foundation of China(NSFC,Nos.22075168,21701105,21871167&91961201)Shanxi-Zheda Institute of Advanced Materials and Chemical Engineering(No.2022SX-FR003)。
文摘In our work,polymorphism strategy has been successfully applied to tune up chromism and luminescence properties of viologen-based materials.Two polymorphs of viologen-based complexes ofα-CdBr_(2)(PHSQ)_(2)(H_(2)O)_(2)(1)andβ-CdBr_(2)(PHSQ)_(2)(H_(2)O)_(2)(2)(PHSQ=N-(4-sulfophenyl)-4,4-bipyridinium)were synthesized by changing the solvent.They can both respond to UV light and electricity in the manner of chromism visible to the naked eye and the coloration states have good reversibility,through which an inkless erasable printing model has been established.But the coloration contrast of 1 is higher compared to 2.Meanwhile,they both exhibit photoluminescence properties and the intensity of 1 is twice that of 2,which is accompanied by photoquenching upon continuous UV light irradiation.The only divergence of disordered/ordered O atoms in the two crystalline compounds leads to significantly different chromic and luminescent properties.Further explorations simultaneously demonstrate that the different chromic performance between 1 and 2 should attribute to the alteration of stimulus-induced(light/electricity)electron transfer channels caused by the ordered/disordered O atoms in the complexes,which is achieved through C-H···O and O-H···O interactions to change crystal arrangement and structural rigidity,thus affect luminescent properties.
基金Supported by the National Key Research and Development Program of China,No.2024YFC2707801the Science and Technology Innovation Commission of Shenzhen,No.JCYJ20230807143800002.
文摘BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as targeted polymerase chain reaction technology),and current findings remain inconsistent.AIM To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.METHODS Whole-exome sequencing(WES)was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD,focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects.A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.RESULTS WES was performed on 70 children with ASD,and the case-control study included 170 children with ASD and 170 healthy controls.WES revealed that 84.3%(59/70)of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models(P<0.05).The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations,body and object use,social and adaptive skills,total scores on the Autism Behavior Checklist,as well as emotional reactivity,nonverbal communication,and activity level on the Childhood Autism Rating Scale(P<0.05).CONCLUSION Most children with ASD carry deleterious variants in folate metabolism-related pathways.MTHFR C677T and MTRR A66G mutations are significantly associated with ASD.
基金Supported by the National Key Research and Development Program of China,No.2021YFC2700700 and No.2021YFC2700704Capital’s Funds for Health Improvement and Research(CFH)in People’s Republic of China,No.2020-1-5112.
文摘BACKGROUND There are conflicting results on the potential correlation between folic acid and gestational diabetes mellitus(GDM),and the correlation between genetic factors related to folic acid metabolism pathways and GDM remains to be revealed.AIM To examine the association between single-nucleotide polymorphisms(SNPs)of enzyme genes in the folate metabolite pathway as well as that between GDM-related genes and risk for GDM.METHODS A nested case-control study was conducted with GDM cases(n=412)and healthy controls(n=412).DNA was extracted blood samples and SNPs were genotyped using Agena Bioscience’s MassARRAY gene mass spectrometry system.The associations between different SNPs of genes and the risk for GDM were estimated using logistic regression models.The generalized multi-factor dimensionality reduction(GMDR)method was used to analyze gene-gene and gene-environment interactions using the GMDR 0.9 software.RESULTS The variation allele frequency of melatonin receptor 1B(MTNR1B)rs10830963 was higher in the GDM group than in controls(P<0.05).MTNR1B rs10830963 mutant G was associated with risk for GDM[adjusted odds ratio(aOR):1.43;95%confidence interval(95%CI):1.13-1.80]in the additive model.MTNR1B rs10830963 GG+GC was significantly associated with the risk for GDM(aOR:1.65;95%CI:1.23-2.22)in the dominant model.The two-locus model of MTNR1B rs10830963 and CHEMERIN rs4721 was the best model(P<0.05)for gene-gene interactions in the GMDR results.The high-risk rs10830963×rs4721 type of interaction was a risk factor for GDM(aOR:2.09;95%CI:1.49-2.93).CONCLUSION This study does not find an association between SNPs of folate metabolic enzymes and risk for GDM.The G mutant allele of MTNR1B rs10830963 is identified as a risk factor for GDM in the additive model,and there may be gene-gene interactions between MTNR1B rs10830963 and CHEMERIN rs4721.It is conducive to studying the causes of GDM and provides a new perspective for the precise prevention of this disease.
基金National Key Research and Development Program for Young scientists,Grant/Award Number:2021YFF0703200National Natural Foundation Joint Fund for Regional Innovation and Development,Grant/Award Number:U21A20194+1 种基金National Natural Science Foundation of China,Grant/Award Number:32170540National Key Research and Development Program,Grant/Award Number:2022YFF0711005。
文摘Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.
文摘Fluoropyrimidines(FP),including 5-fluorouracil and its prodrug capecitabine,are commonly employed in treating various solid tumors.Nonetheless,their use is frequently constrained by severe toxicities in 20%-30%of patients.Pharmacogenetic testing for dihydropyrimidine dehydrogenase(DPYD)deficiency,based on DPYD polymorphisms,has notably decreased severe adverse events,improving the safety of FP therapy.A recent D'Amato et al study evaluated the prevalence of DPYD polymorphisms and their effect on FP tolerability among Italian patients with gastrointestinal cancers.Although this study provided important insights into the significance of DPYD testing,its retrospective nature,inconsistency in testing DPYD variants,and lack of consideration for socioeconomic and confounding factors showed considerable limitations.Expanding the screening to include DPYD variants,addressing confounding biases through robust statistical analyses,and implementing prospective studies are critical next steps to strengthen the clinical evidence.Furthermore,the absence of a comprehensive cost-effectiveness analysis highlights the need for further financial assessments to advocate for broader implementation.We emphasized integrating DPYD-guided dosing,pre-treatment genetic counseling,and standardized testing procedures into clinical practice to improve patient outcomes and minimize treatment-related toxicities.
基金supported by the National Nature Science Foundation of China(NSFC)(Grant No.11974033)Xuqiang Liu acknowledges support from the National Postdoctoral Foundation Project of China under Grant No.GZC20230215+2 种基金the National Nature Science Foundation of China under Grants No.12404001The XRD measurements at room and high temperatures were performed at the 4W2 HPStation of the Beijing Synchrotron Radiation Facility(BSRF)and beamline 15U1 of the Shanghai Synchrotron Radiation Facility(SSRF)In situ high-pressure,low-temperature XRD measurements were conducted at sector 16 ID-B,HPCAT of the Advanced Photon Source,and were supported by DOE-NNSA under Award No.DE-NA0001974.
文摘High-pressure β-Sn germanium may transform into diverse metastable allotropes with distinctive nanostructures and unique physical properties via multiple pathways under decompression.However,the mechanism and transition kinetics remain poorly understood.Here,we investigate the formation of metastable phases and nanostructures in germanium via controllable transition pathways of β-Sn Ge under rapid decompression at different rates.High-resolution transmission electron microscopy reveals three distinct metastable phases with the distinctive nanostructures:an almost perfect st12 Ge crystal,nanosized bc8/r8 structures with amorphous boundaries,and amorphous Ge with nanosized clusters (0.8–2.5 nm).Fast in situ x-ray diffraction and x-ray absorption measurements indicate that these nanostructured products form in certain pressure regions via distinct kinetic pathways and are strongly correlated with nucleation rates and electronic transitions mediated by compression rate,temperature,and stress.This work provides deep insight into the controllable synthesis of metastable materials with unique crystal symmetries and nanostructures for potential applications.
基金Supported by National Natural Science Foundation of China,No.32270768,No.82273970,No.32070726,and No.82370715National Key R&D Program of China,No.2023YFC2507904the Innovation Group Project of Hubei Province,No.2023AFA026.
文摘Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.
