In the past several decades,silicon germanium(SiGe)bulk alloys have been a research focus in addressing the current global energy crisis and environmental pollution problems due to their excellent high-temperature the...In the past several decades,silicon germanium(SiGe)bulk alloys have been a research focus in addressing the current global energy crisis and environmental pollution problems due to their excellent high-temperature thermoelectric properties.In this study,n-type Si_(80)Ge_(20)P_(2)Sn_(x)bulk alloys were fabricated by spark plasma sintering(SPS)to investigate the effect of Sn incorporation.In addition,the optimal sintering conditions and Sn content were determined.The introduction of Sn improves the electrical conductivity and power factor of the n-type SiGe bulk alloys due to the doping and composite effects.Particularly,the Si_(80)Ge_(20)P_(2)Sn_(2)bulk alloy could reach a high figure of merit(ZT)value of~1.26 at 800℃.Thus,this work provides a quick preparation method for obtaining n-type SiGe bulk alloys with outstanding thermoelectric properties by incorporating Sn,which is favorable for large-scale production.展开更多
Objective Ovarian cancer(OC)is one of the most common and most lethal gynecological malignancies.OC has an age-dependent incidence and occurs more commonly in females older than 50 years old.Most OC patients are diagn...Objective Ovarian cancer(OC)is one of the most common and most lethal gynecological malignancies.OC has an age-dependent incidence and occurs more commonly in females older than 50 years old.Most OC patients are diagnosed at an advanced stage and have a poor prognosis.Germline mutations in the BRCA1 DNA repair associated gene(BRCA1)and the BRCA2 DNA repair associated gene(BRCA2)account for 20%–25%of epithelial ovarian cancer(EOC).BRCA1 germline mutations are more common in Chinese EOC patients.Methods This study reported a three-generation Han-Chinese family containing four EOC patients and a rectal adenocarcinoma patient.Whole-exome sequencing was performed on two EOC patients and an unaffected individual.Variant validation was also performed in all available members by Sanger sequencing.Results A heterozygous splice site variant,c.4358-2A>G in the BRCA1 gene,was identified.Bioinformatic analysis showed that the variant may change the splicing machinery.Conclusion The BRCA1 splice site variant,c.4358-2A>G was identified as the likely genetic cause for EOC,and may also be associated with the increased risk of rectal adenocarcinoma in the family.The findings were beneficial for genetic counseling,helpful for cancer prevention in other family members,and may facilitate therapy decision-making in the future to reduce cancer lethality.展开更多
基金financially supported by the National Natural Science Foundation of China(Nos.12104408,11704340,11804305,12004341 and 12004342)China Postdoctoral Science Foundation(Nos.2020M672266 and 2021M702956)+1 种基金the State Key Laboratory of Metastable Materials Science and Technology in Yanshan University(No.202010)the Scientific and Technology project in Henan Province(No.202102210198)
文摘In the past several decades,silicon germanium(SiGe)bulk alloys have been a research focus in addressing the current global energy crisis and environmental pollution problems due to their excellent high-temperature thermoelectric properties.In this study,n-type Si_(80)Ge_(20)P_(2)Sn_(x)bulk alloys were fabricated by spark plasma sintering(SPS)to investigate the effect of Sn incorporation.In addition,the optimal sintering conditions and Sn content were determined.The introduction of Sn improves the electrical conductivity and power factor of the n-type SiGe bulk alloys due to the doping and composite effects.Particularly,the Si_(80)Ge_(20)P_(2)Sn_(2)bulk alloy could reach a high figure of merit(ZT)value of~1.26 at 800℃.Thus,this work provides a quick preparation method for obtaining n-type SiGe bulk alloys with outstanding thermoelectric properties by incorporating Sn,which is favorable for large-scale production.
基金the National Natural Science Foundation of China(No.81800219 and No.81873686)Natural Science Foundation of Hunan Province(No.2019JJ50927,No.2020JJ3057 and No.2020JJ4830)the Lotus Scholars Program of Hunan Province,and the Wisdom Accumulation and Talent Cultivation Project of the Third Xiangya Hospital of Central South University(No.YX202109).
文摘Objective Ovarian cancer(OC)is one of the most common and most lethal gynecological malignancies.OC has an age-dependent incidence and occurs more commonly in females older than 50 years old.Most OC patients are diagnosed at an advanced stage and have a poor prognosis.Germline mutations in the BRCA1 DNA repair associated gene(BRCA1)and the BRCA2 DNA repair associated gene(BRCA2)account for 20%–25%of epithelial ovarian cancer(EOC).BRCA1 germline mutations are more common in Chinese EOC patients.Methods This study reported a three-generation Han-Chinese family containing four EOC patients and a rectal adenocarcinoma patient.Whole-exome sequencing was performed on two EOC patients and an unaffected individual.Variant validation was also performed in all available members by Sanger sequencing.Results A heterozygous splice site variant,c.4358-2A>G in the BRCA1 gene,was identified.Bioinformatic analysis showed that the variant may change the splicing machinery.Conclusion The BRCA1 splice site variant,c.4358-2A>G was identified as the likely genetic cause for EOC,and may also be associated with the increased risk of rectal adenocarcinoma in the family.The findings were beneficial for genetic counseling,helpful for cancer prevention in other family members,and may facilitate therapy decision-making in the future to reduce cancer lethality.
