This study was aimed to evaluate the reliability and validity of the Traditional Chinese Medicine Self Rate Health Assessment Questionnaire (TCM-SRHAQ). A total of 859 middle age and aged cases were enrolled in a cross-sectional study, which were evaluated by the questionnaire. The salivary level of ɑ-amylase was tested at the same time. The results showed that the split-half reliability coefficient was 0.91, which can highly differentiate the health level of the crowd. The spearman correlation coefficients between items in the “spleen deficiency” sub-scale were all higher than 0.3. While the correlation coefficients between items were less than 0.25. Salivary level of ɑ-amylase was used as indicator. The “spleen deficiency” sub-scale showed high validity in identifying spleen-qi deficiency people from healthy people. It was concluded that TCM-SRHAQ showed good reliability and validity in this study, which indicated it can be used as a valuable measurement for assessing different types of health status, especially the spleen-qi deficiency type.

There are multiple shared pathophysiological mechanisms between diabetes mellitus and cognitive impairment, and diabetic patients are at a significantly higher risk of developing cognitive impairment compared to the general population. It is thus crucial to accurately predict the onset of cognitive impairment in diabetic patients. This review summarizes the progress in research on risk prediction models for cognitive impairment in diabetes mellitus and analyzes and compares various models in terms of their basic types, development methods, and predictive performance. The aim is to provide a reference for the development and clinical application of risk prediction models for cognitive impairment in diabetic patients.

Objective To assess the psychometric potential of the Montreal Cognitive Assessment Scale-Beijing (MoCA-BJ) as a screening instrument for mild cognitive impairment (MCI) in older adults in Wuhan communities of central China. Methods MoCA-BJ and Mini-Mental State Examination (MMSE) were adopted to assess the MCI of 381 older adults from 13 communities in Wuhan in 2015. Confirmatory factor analysis was conducted to evaluate the construct validity of MoCA-BJ, and the relationship between all aspects of cognitive function and MoCA different dimensions. Results MoCA-BJ had acceptable reliability (w=0.76), and MoCA-BJ and MMSE estimation results were highly correlated (r=0.73, P＜0.01). By comparing three measurement models through confirmatory factor analysis, we found that the MoCA-BJ scale had two factors (F1: visual space executive function, F2: memory-based other cognitive functions) in model 3, fit degree of which was higher than model 1 by one factor, and there was a statistically significant difference in the number of factors between model 1 and model 3 (χ2dif=8.73,P＜0.01). Conclusions The MoCA-BJ has two underlying factors that respectively represent two highly correlated but distinct factors, cognition and visual-spatial. Uninformative items should be revised with culturally sensitive items and the cut-off point for mild impairment should also be altered.

OBJECTIVE: To analyze the phenotype and genotype of a patient affected with inherited antithrombin deficiency. METHODS: All exons and exon-intron boundaries of the AT genes were subjected to PCR amplification and Sanger sequencing. The influence of variants on the disease was predicted using bioinformatic software (MutationTaster). RESULTS: The results of all coagulation tests were normal, though the antithrombin activity and antigen content of the proband and his father have decreased significantly (34%, 48% and 12.97 mg/dL, 15.60 mg/dL, respectively). His mother was normal. Genetic analysis revealed that the proband and his father both carried a heterozygous g.2736dupT variant of the AT gene. Bioinformatic analysis suggested that the variant may be pathogenic. CONCLUSION The proband and his father both had type I hereditary antithrombin deficiency caused by a g.2736dupT variant of the AT gene. The variant was unreported previously.
Antithrombin III/genetics* ; Antithrombin III Deficiency/genetics* ; DNA Mutational Analysis ; Genetic Testing ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree

Objective:To analyze the phenotype and genotype of two Chinese family with inherited dysfibrinogenemia and the molecular pathogenic mechanism.Methods:In the probands and their family members, coagulation routine, fibrinogen activity(Fg∶A) and fibrinogen antigen(Fg∶Ag) were detected . To find the mutation and exclude single nucleotide polymorphisms, all the exons and exons-intron boundaries of fibrinogen genes ( FGA, FGB and FGG) were amplified by Ploymerase Chain Reaction (PCR), then sequenced. Bioinformatics prediction softwares were used to predict and score the change of function caused by the variant. PyMol were used to analyze the structure of protein caused by the variant. Clustal X software was used to analyze the conservation of the mutant amino acids. Results:The thrombin time(TT) of the two was slightly prolonged and could not be corrected by protamine sulfate, and the fibrinogen activity was significantly reduced (1.25 g/L and 1.17 g/L), but the fibrinogen antigen content was normal, respectively (3.50 g /L and 3.81 g/L). Genetic analysis showed that both probands were heterozygous missense variants( FGB exon 7 c. 1115 T>A (p.Val372Glu)), both of which originated from the paternal line. The prediction results of the four bioinformatics softwares indicate that this variant could be disease causing. Clustal X software showed that Val372 is highly conserved among homologous species. Based on the guidelines of the American College of Medical Genetics and Genomics, c. 1115 T>A was predicted to be likely pathgenic(PM2+ PP1+ PP2+ PP3+ PP4). PyMol shouwed p. Val372Glu variant changes the secondary structure and three-dimensional structure of fibrinogen protein were changed caused by p. Val372Glu variant. Conclusion:Inherited dysfibrinogenemia of the probands maybe caused by variant of FGB c. 1115 T>A(p.Val372Glu), and the variant was firstly reported.