Analysis of HEXB gene mutations in an infant with Sandhoff disease / 中华医学遗传学杂志

Objective@#To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD).@*Methods@#Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations.@*Results@#The infant was found to carry compound heterozygous mutations c. 1652G>A(p.Cys551Tyr) and c. 1389C>G (p.Tyr463*) of the HEXB gene. The c. 1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c. 1652G>A(p.Cys551Tyr)mutation, unreported previously, was predicted to be probably damaging by Bioinformatic analysis.@*Conclusion@#Compound heterozygous mutations c. 1652G>A(p.Cys551Tyr) and c. 1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.

Analysis of HEXB gene mutations in an infant with Sandhoff disease / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD).@*METHODS@#Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations.@*RESULTS@#The infant was found to carry compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) of the HEXB gene. The c.1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c.1652G>A(p.Cys551Tyr) mutation, unreported previously,was predicted to be probably damaging by Bioinformatic analysis.@*CONCLUSION@#Compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.

Mediation of psychological vulnerability in the association between stressful life events and psychological crisis among college students / 中国学校卫生

Objective@#To explore the psychological vulnerability in the relationship between stressful life events and psychological crisis, and to provide basis for psychological crisis prevention among college students.@*Methods@#With stratified cluster sampling，3584 students in Weifang Medical University and Weifang University were selected for a crosssectional selfadministrated questionnaire survey in December 2017. A selfdesigned general questionnaire, Adolescent SelfRating Life Events Check List(ASLEC), psychological vulnerability scale, and psychological crisis performance questionnaire for college students were applied in the survey. Mediating effect was tested by using SPSS 23.0 and AMOS 23.0.@*Results@#The average score was 36.53±8.58 for life events(ASLEC), 54.21±11.80 for psychological vulnerability,and 26.33±39.72 for psychological crisis performance. The life events score was positively correlated with psychological crisis score (r=0.54, P<0.05) and positively correlated with psychological vulnerability score(r=0.30, P<0.05); psychological vulnerability score was positively correlated with psychological crisis score(r=0.37, P<0.05). Psychological vulnerability played a partial intermediary role on the relationship between life events and psychological among undergraduates,the effect was 0.10 accounting for 15.13% of the total effect.@*Conclusion@#Life events have made a direct influence and an indirect influence mediated by psychological crisis vulnerability on psychological crisis among undergraduates.

Intervention of empowerment with multi-stage change theory on diet behavior for the influence of metabolic indices in patients with diabetes / 重庆医学

Objective To investigate the influence of different educational methods on the metabolic indices in patients with diabetes .Methods A total of 218 patients with diabetes in the First Affiliated Hospital of Guangxi Medical University were ran-domized divided into two groups .Different intervention ways were used :patients in the control group received conventional educa-tional methods ,while patients in experiment group received the educational methods combined with empowerment and multi-stage theory of change .The C-DES-SF scale scores and the HbA1c ,FPG ,2 h PG ,TC ,TG ,LDL ,HDL indices was compared between the two groups .Results Indices and empowered ability of HbA1c ,FPG ,2 h PG ,TC ,LDL were changed in accordance with time .As compared with control group ,the educational method in intervention group had better change of FPG ,2 h PG ,TC ,LDL(P< 0 .05) . Indices and empowered ability of HbA1c ,FPG ,2 h PG ,TC ,LDL had inter-action with time ,and indexes in intervention group were better than those in the control group(P< 0 .05) .At the 3rd and 6th month after invention in the intervention group ,patients in movement stage and movement maintaining stage were higher than those in control group(P< 0 .05) .Conclusion Well correction of bad diet behaviors by application of educational methods of combined with empowerment and multi-stage theory of change for the type 2 diabetes patients would help the patients to improve the ability of self-care and control the level of metabolic indices .

Non-linear rectification of sensor based on immune genetic algorithm / 生物医学工程学杂志

A non-linear rectification based on immune genetic algorithm (IGA) is proposed in this paper, for the shortcoming of the non-linearity rectification. This algorithm introducing the biologic immune mechanism into the genetic algorithm can restrain the disadvantages that the poor precision, slow convergence speed and early maturity of the genetic algorithm. Computer simulations indicated that the algorithm not only keeps population diversity, but also increases the convergent speed, precision and the stability greatly. The results have shown the correctness and effectiveness of the method.

Expression and the role of myeloid-derived suppressor cells in the peripheral blood in patients with chronic hepatitis B / 中华传染病杂志

Objective To investigate the correlation between the frequency of myeloid-derived suppressor cells (MDSC) and the frequency of regulatory T cells (Treg) in the peripheral blood in patients with chronic hepatitis B (CHB) and its clinical significance.Methods A total of 45 CHB patients including 23 mild-to-moderate CHB patients,22 severe CHB patients,and 15 healthy controls were enrolled.The frequencies of MDSC and Treg in the peripheral blood were studied using flow cytometry and its correlation with clinical data was analyzed by Sepearman correlation analysis.Results The median frequency of MDSC in CHB patients was 0.414％,which was significantly higher than that in healthy controls 0.226％ (Z=-2.356,P=0.018 9).The frequency of MDSC in CHB patients was negatively correlated with the level of alanine transaminase (ALT) and aspartate transaminase (AST) (r=-0.480,-0.478; both P＜0.01),but had no relations with hepatitis B virus (HBV) viral load (r=-0.049,P=0.75).An increase frequency of MDSC was observed in CHB patients with an ALT of 5 × upper limits of normal (ULN) or less or AST of 3 × ULN or less.The frequency of MDSC in CHB patients was positively correlated with that of Treg (r =0.345,P =0.02).Conclusions The activation and proliferation of MDSC may facilitate and maintain HBV persistent infection.The change of the frequency of MDSC is in line with that of Treg,indicating that immunosuppressive functions of MDSC may be related with the development of Treg in CHB.