BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging...BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging characteristics of this case.After 1-year treatment and follow-up,we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.CASE SUMMARY In April 2020,a 2-year-old boy with HGPS was found to have an abnormal appearance,and growth and development lagged behind those of children of the same age.The child’s weight did not increase normally,the veins of the head were clearly visible,and he had shallow skin color and sparse yellow hair.Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there was a synonymous heterozygous mutation of C.1824 C>T(P.G608G)in the LMNA gene.CONCLUSION Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.展开更多
A silver-based metal-organic framework（Ag-MOFs）, [Ag2（H3 ddcba）（dpp）2]（1）（H5 ddcba = 3,5-（di（2’,5’-dicarboxylphenyl）benozoic acid, dpp = 1,3-di（4-pyridyl）propane）, was successfully constructed via hyd...A silver-based metal-organic framework（Ag-MOFs）, [Ag2（H3 ddcba）（dpp）2]（1）（H5 ddcba = 3,5-（di（2’,5’-dicarboxylphenyl）benozoic acid, dpp = 1,3-di（4-pyridyl）propane）, was successfully constructed via hydrothermal assembly of a pentacaboxylate ligand, a N-donor ligand and Ag（I） ions, which possesses a pcu topology and exhibits excellent catalytic properties in aqueous solution for the degradation of onitrophenol（2-NP）, m-nitrophenol（3-NP） and p-nitrophenol（4-NP）. Related kinetics of such catalytic reactions, photoluminescent and thermal stability of compound 1 were also investigated.展开更多
基金Supported by Hainan Province Clinical Medical Center,No.(2021)75 and No.(2021)276.
文摘BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging characteristics of this case.After 1-year treatment and follow-up,we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.CASE SUMMARY In April 2020,a 2-year-old boy with HGPS was found to have an abnormal appearance,and growth and development lagged behind those of children of the same age.The child’s weight did not increase normally,the veins of the head were clearly visible,and he had shallow skin color and sparse yellow hair.Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there was a synonymous heterozygous mutation of C.1824 C>T(P.G608G)in the LMNA gene.CONCLUSION Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.
基金financial support from the National Science Foundation of China (Nos. 216731272, 2137312, 21671119, 51572152 and 51502155)
文摘A silver-based metal-organic framework（Ag-MOFs）, [Ag2（H3 ddcba）（dpp）2]（1）（H5 ddcba = 3,5-（di（2’,5’-dicarboxylphenyl）benozoic acid, dpp = 1,3-di（4-pyridyl）propane）, was successfully constructed via hydrothermal assembly of a pentacaboxylate ligand, a N-donor ligand and Ag（I） ions, which possesses a pcu topology and exhibits excellent catalytic properties in aqueous solution for the degradation of onitrophenol（2-NP）, m-nitrophenol（3-NP） and p-nitrophenol（4-NP）. Related kinetics of such catalytic reactions, photoluminescent and thermal stability of compound 1 were also investigated.
