目的探讨慢性病保健模型在老年糖尿病(DM)患者中的应用效果。方法选取2020年1月至2021年1月厦门大学附属中山医院收治的150例老年DM患者作为研究对象,采用随机数字表法将其分为对照组(75例)与观察组(75例)。对照组患者采用常规管理,观...目的探讨慢性病保健模型在老年糖尿病(DM)患者中的应用效果。方法选取2020年1月至2021年1月厦门大学附属中山医院收治的150例老年DM患者作为研究对象,采用随机数字表法将其分为对照组(75例)与观察组(75例)。对照组患者采用常规管理,观察组患者采用慢性病保健模型进行管理,连续干预1年。比较两组患者的DM相关知识知晓率、糖代谢指标。结果干预前,两组患者对DM相关知识知晓率比较,差异无统计学意义(P>0.05);干预后,观察组患者对DM相关知识知晓率均高于对照组,差异有统计学意义(P<0.05)。干预前,两组患者的空腹血糖(FPG)、餐后2 h血糖(2 h PG)比较,差异无统计学意义(P>0.05);干预后,观察组患者的FPG、2 h PG低于对照组,差异有统计学意义(P<0.05)。结论老年DM患者通过慢性病保健模型管理,能够有效提高自身对于疾病有关知识知晓率,改善糖代谢,临床应用价值较高。展开更多
Preimplantation genetic diagnosis (PGD), as a new assisted reproductive technology which can select normal embryos for transplantation combined with in-vitro fertilization and embryo transfer(IVF-ET)through the analys...Preimplantation genetic diagnosis (PGD), as a new assisted reproductive technology which can select normal embryos for transplantation combined with in-vitro fertilization and embryo transfer(IVF-ET)through the analysis of genetic materials before embryo implantation, holds a more and more important position in the diagnosis of genetic diseases and has made an important significance to the Aristogenics.PGD is an important aspect of assisted reproduction technology(ART)with its rapid development. Continuous appearances and comprehensive applications of new methods and technologies have greatly developed the PGD. In this review, we introduce some new methods and their principles about the new research advances of PGD.展开更多
Mucopolysaccharidosis type II is of high ge-netic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported world...Mucopolysaccharidosis type II is of high ge-netic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported world-wide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one “A” at the end of 1467 bp (cDNA). The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is sup-posed to be the direct cause of the patient with MPS II and to be a necessary premise for prenatal gene diagnosis.展开更多
This study identified mutations of the idurnate-2-sulfatase(IDS)gene in a patient with Hunter syndrome,and established a basis for the diagnosis of the prenatal gene of Hunter syndrome.Urine glyeosaminoglycan(GAG)assa...This study identified mutations of the idurnate-2-sulfatase(IDS)gene in a patient with Hunter syndrome,and established a basis for the diagnosis of the prenatal gene of Hunter syndrome.Urine glyeosaminoglycan(GAG)assay was used to make the preliminary diagnosis of mucopolysac-charidosis type II.Polymerase chain reaction(PCR)from dried blood spots and DNA sequencing were applied to analyze hotspot mutations in exons 9,3 and 8 of the IDS gene in the proband and his parents.A new missense mutation(T1140C)in exon 8 of the IDS gene was found by using DNA sequencing.This mutation caused a substitution of codon 339 from CTA(leucine)to CCA(praline).The patient is a hemi-zygote,and his mother is a heterozygote.The new missense mutation results in a change in the primary and tertiary struc-ture of the IDS protein.It is possible that this mutation severely impairs enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.展开更多
文摘目的探讨慢性病保健模型在老年糖尿病(DM)患者中的应用效果。方法选取2020年1月至2021年1月厦门大学附属中山医院收治的150例老年DM患者作为研究对象,采用随机数字表法将其分为对照组(75例)与观察组(75例)。对照组患者采用常规管理,观察组患者采用慢性病保健模型进行管理,连续干预1年。比较两组患者的DM相关知识知晓率、糖代谢指标。结果干预前,两组患者对DM相关知识知晓率比较,差异无统计学意义(P>0.05);干预后,观察组患者对DM相关知识知晓率均高于对照组,差异有统计学意义(P<0.05)。干预前,两组患者的空腹血糖(FPG)、餐后2 h血糖(2 h PG)比较,差异无统计学意义(P>0.05);干预后,观察组患者的FPG、2 h PG低于对照组,差异有统计学意义(P<0.05)。结论老年DM患者通过慢性病保健模型管理,能够有效提高自身对于疾病有关知识知晓率,改善糖代谢,临床应用价值较高。
基金National Natural Science Foundation of China ( 30772069)
文摘Preimplantation genetic diagnosis (PGD), as a new assisted reproductive technology which can select normal embryos for transplantation combined with in-vitro fertilization and embryo transfer(IVF-ET)through the analysis of genetic materials before embryo implantation, holds a more and more important position in the diagnosis of genetic diseases and has made an important significance to the Aristogenics.PGD is an important aspect of assisted reproduction technology(ART)with its rapid development. Continuous appearances and comprehensive applications of new methods and technologies have greatly developed the PGD. In this review, we introduce some new methods and their principles about the new research advances of PGD.
文摘Mucopolysaccharidosis type II is of high ge-netic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported world-wide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one “A” at the end of 1467 bp (cDNA). The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is sup-posed to be the direct cause of the patient with MPS II and to be a necessary premise for prenatal gene diagnosis.
基金This work was supported by Chinese Medical Board Partly Imburse(No.2003).
文摘This study identified mutations of the idurnate-2-sulfatase(IDS)gene in a patient with Hunter syndrome,and established a basis for the diagnosis of the prenatal gene of Hunter syndrome.Urine glyeosaminoglycan(GAG)assay was used to make the preliminary diagnosis of mucopolysac-charidosis type II.Polymerase chain reaction(PCR)from dried blood spots and DNA sequencing were applied to analyze hotspot mutations in exons 9,3 and 8 of the IDS gene in the proband and his parents.A new missense mutation(T1140C)in exon 8 of the IDS gene was found by using DNA sequencing.This mutation caused a substitution of codon 339 from CTA(leucine)to CCA(praline).The patient is a hemi-zygote,and his mother is a heterozygote.The new missense mutation results in a change in the primary and tertiary struc-ture of the IDS protein.It is possible that this mutation severely impairs enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.
