Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
Adicionar filtros








Intervalo de ano
1.
Chinese Journal of Medical Genetics ; (6): 750-755, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981820

RESUMO

OBJECTIVE@#To explore the serological characteristics of ABO blood group and molecular genetic mechanism for a Chinese pedigree with cisAB09 subtype.@*METHODS@#A pedigree undergoing ABO blood group examination at the Department of Transfusion, Zhongshan Hospital Affiliated to Xiamen University on February 2, 2022 was selected as the study subjects. Serological assay was carried out to determine the ABO blood group of the proband and his family members. Activities of A and B glycosyltransferases in the plasma of the proband and his mother were measured with an enzymatic assay. Expression of A and B antigens on the red blood cells of the proband was analyzed by flow cytometry. Peripheral blood samples of the proband and his family members were collected. Following extraction of genomic DNA, exons 1 to 7 of the ABO gene and their flanking introns were sequenced, and Sanger sequencing of exon 7 was carried out for the proband, his elder daughter and mother.@*RESULTS@#The results of serological assay suggested that the proband and his elder daughter and mother had an A2B phenotype, whilst his wife and younger daughter had an O phenotype. Measurement of plasma A and B glycosyltransferase activity suggested that the titers of B-glycosyltransferase activity were 32 and 256 for the proband and his mother, which were respectively below and above that of A1B phenotype-positive controls (128). Flow cytometry analysis showed that the expression of A antigen on the red blood cell surface of the proband has decreased, whilst the expression of B antigen was normal. Genetic sequencing confirmed that, in addition to an ABO*B.01 allele, the proband, his elder daughter and mother have harbored a c.796A>G variant in exon 7, which has resulted in substitution of the methionine at 266th position of the B-glycosyltransferase by valine and conformed to the characteristics of ABO*cisAB.09 allele. The genotypes of the proband and his elder daughter were determined as ABO*cisAB.09/ABO*O.01.01, his mother was ABO*cisAB.09/ABO*B.01, and his wife and younger daughter were ABO*O.01.01/ABO*O.01.01.@*CONCLUSION@#The c.796A>G variant of the ABO*B.01 allele has resulted in an amino acid substitution p.Met266Val, which probably underlay the cisAB09 subtype. The ABO*cisA B.09 allele encodes a special glycosyltransferase which can synthesize normal level of B antigen and low level of A antigen on the red blood cells.


Assuntos
Humanos , Sistema ABO de Grupos Sanguíneos/genética , Linhagem , População do Leste Asiático , Genótipo , Fenótipo , Alelos , Glicosiltransferases/genética , Biologia Molecular
2.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 578-584, 2022.
Artigo em Chinês | WPRIM | ID: wpr-924651

RESUMO

ObjectiveTo systematically review the effects of bilingual training on cognition for older adults. MethodsResearches about bilingual training for cognition for the older adults were retrieved from PubMed, Web of Science, ScienceDirect, SpringerLink, Wanfang Data, and CNKI from 2011 to May, 2021, supplemented by references backtracking and manual retrieval. The data was extracted for analysis. ResultsA total of 21 researches were included from twelve countries, which published mainly on journals of medicine, neurology, psychology, biology, etc., in 2017 and 2019. Most of the researches were prospective researches and retrospective researches, and the targeted groups including healthy people, people with dementia and people with Alzheimer's disease (AD). The objects mainly involved the effects of bilingualism on cognition, the pathways and the limitations. ConclusionBilingual training may improve the cognition for older adults, through the brain connection related with memory, attention and execution, to delay the onset of AD or dementia; which may associate with the improvement of brain structure and function, including connectivity among regions, activation of cortical circuits, and structural integrity and plasticity. The effects are mainly on execution and perception, and delaying the cognitive decline, which appear in a short term. Bilingual training may finally promote language function, maintain the integrity of the brain structures, and compensate cognitive decline using more potential neural circuits. However, these researches need more uniform criteria for subjects, more reasonable control conditions, and more uniform paradigms.

3.
Chinese Journal of Geriatrics ; (12): 1344-1347, 2019.
Artigo em Chinês | WPRIM | ID: wpr-824565

RESUMO

Objective To evaluate the efficacy and safety of intravenous thrombolysis with recombinant tissue-plasminogen activator (rt-PA) in elderly patients with early-stage mild ischemic stroke (IS).Methods This was a prospective,open-label,controlled study.Ninety-four elderly patients with mild IS admitted to our hospital from January 2014 to December 2017 were randomized into a thrombolysis arm (TA,n=46) and a control arm (CA,n=48).The short-term endpoints were the National Institutes of Health stroke scale (NIHSS) scores on 3rd,7th,14th day after admission and the secondary endpoints were the modified Rankin Scale (mRS) score and the morbidity of recurrence IS within 90 days.Safety was evaluated by the incidence of intracranial hemorrhage (IH) and early neurological deterioration (END) during hospitalization.Results The baseline NIHSS scores of patients in the TA and CA groups were similar [(4.1±0.7) vs.(4.1 ±0.7)].However,there were significant differences in the NI HSS score on 3 rd [(3.4 ± 1.2) vs.(4.2 ± 1.4)],7th [(3.0 ± 1.8) vs.(4.1±1.6)] and 14th day [(2.5±2.0) vs.(3.4± 1.6)],respectively,between the TA group and the CA group.Furthermore,the TA group was associated with a significantly higher proportion of patients with good prognosis (mRS,0-2),compared with the CA group (71.7% vs.35.4%,P<0.01).Receiver operating characteristic curve analysis showed that patients with baseline NIHSS>3 could benefit from thrombolytic therapy.There were 1 case of symptomatic IH and 1 case of progressive stroke in the TA group,and 1 case of IH and 2 cases of progressive stroke in the control group.There were no significant differences in the rate of either END or IH between the two groups (P>0.05).Two patients in the TA group and three patients in the control group had recurrent IS within 90 days and the recurrence rate of IS was also similar within 90 days (P >0.05).Conclusions Intravenous thrombolytic therapy with rt-PA can improve the prognosis of elderly patients with mild stroke without increased risk of END,IH,or recurrence of IS.

4.
Chinese Journal of Geriatrics ; (12): 1344-1347, 2019.
Artigo em Chinês | WPRIM | ID: wpr-800378

RESUMO

Objective@#To evaluate the efficacy and safety of intravenous thrombolysis with recombinant tissue-plasminogen activator (rt-PA) in elderly patients with early-stage mild ischemic stroke (IS).@*Methods@#This was a prospective, open-label, controlled study.Ninety-four elderly patients with mild IS admitted to our hospital from January 2014 to December 2017 were randomized into a thrombolysis arm (TA, n=46) and a control arm (CA, n=48). The short-term endpoints were the National Institutes of Health stroke scale (NIHSS) scores on 3rd, 7th, 14thday after admission and the secondary endpoints were the modified Rankin Scale (mRS) score and the morbidity of recurrence IS within 90 days.Safety was evaluated by the incidence of intracranial hemorrhage (IH) and early neurological deterioration (END) during hospitalization.@*Results@#The baseline NIHSS scores of patients in the TA and CA groups were similar [(4.1±0.7) vs.(4.1±0.7)]. However, there were significant differences in the NIHSS score on 3rd [(3.4±1.2) vs.(4.2±1.4)], 7th[(3.0±1.8) vs.(4.1±1.6)] and 14thday [(2.5±2.0) vs.(3.4±1.6)], respectively, between the TA group and the CA group.Furthermore, the TA group was associated with a significantly higher proportion of patients with good prognosis (mRS, 0-2), compared with the CA group (71.7% vs.35.4%, P<0.01). Receiver operating characteristic curve analysis showed that patients with baseline NIHSS>3 could benefit from thrombolytic therapy.There were 1 case of symptomatic IH and 1 case of progressive stroke in the TA group, and 1 case of IH and 2 cases of progressive stroke in the control group.There were no significant differences in the rate of either END or IH between the two groups (P>0.05). Two patients in the TA group and three patients in the control group had recurrent IS within 90 days and the recurrence rate of IS was also similar within 90 days (P>0.05).@*Conclusions@#Intravenous thrombolytic therapy with rt-PA can improve the prognosis of elderly patients with mild stroke without increased risk of END, IH, or recurrence of IS.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA