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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.
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Humans , ABO Blood-Group System/genetics , Pedigree , East Asian People , Genotype , Phenotype , Alleles , Glycosyltransferases/genetics , Molecular BiologyABSTRACT
Aim To explore the effects of hypertension on the contractibility of rat basilar artery and its inter-actions with the sodium pump activity.Methods The basilar artery was respectively isolated from Wistar and SHR rats,and the isometric tension of arterial rings was measured by Multi Myograph System-610M.The cont-ractibilities of arterial rings induced by KCl or 5-HT were compared between the basilar arteries of the two groups of rats to analyze the effect of hypertension on the cerebral vascular tension and the activity of sodium pump.Results In SHR rats,the concentration-re-sponse curves of the contraction of isolated basilar ar-tery rings induced by KCl and 5-HT were significantly shifted to right,and the relaxation of vascular tone in-duced by K+which was reintroduced from the external was attenuated compared with those in the WR.These results suggested that hypertension could significantly decrease the activity of the sodium pump and the con-tractile responses of KCl and 5-HT.OUA could con-tract the basilar artery in a concentration-dependent manner,and its concentration-response curve was opti-mally fitted by a two-site binding model:Kd was 1.7 ×10 -8 and 1.6 ×10 -5 mol·L-1,respectively.The results indicated that the two different function sodium pumps existed in the rat basilar artery:one with the high OUA affinity and the other with the low OUA af-finity.If the high and low affinity sodium pumps were inhibited by 5 ×10 -7 and 10 -4 mol · L-1 OUA,re-spectively,the concentration-response curves of KCl and 5-HT would shift to left in SHR rats but not in WR rats.It suggested that OUA could enhance the contrac-tion induced by KCl and 5-HT significantly,and a concentration-dependent effect was observed in the SHR vascular contraction induced by 5-HT (r =0.9393 ,P<0.05 ).When the two concentrations of OUA were applied,there was no significant difference in the shift left of the concentration-response curves in-duced by KCl in the SHR cerebral vessels.However, the marked difference was shown in the shift left in-duced by 5-HT.The results implied that only the high affinity sodium pump was involved in the contractile re-sponse of SHR cerebral vascular to KCl,whereas,the contractile response of SHR cerebral vascular to 5-HT was induced by both high and low affinity sodium pumps.Conclusion Hypertension could lower the contractile response of the basilar artery to vasocon-strictors,and the mechanism might relate to the de-creased sensitivity of the sodium pump induced by hy-pertension or the increased sensibility of the sodium pump to OUA.
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Objective To observe the changes of brain neurotransmitters in patients with vasovagal syncope (VVS) with encephalofluc-tuogram technology (ET). Methods From August, 2015 to December, 2016, 30 patients with VVS were selected as case group, 30 controls matched with sex and age were selected from the outpatients without syncope. They were detected the function of gamma aminobutyric acid (GABA), glutamate (Glu), 5-hydroxytryptamine (5-HT), acetylcholine (Ach), norepinephrine (NE) and dopamine (DA) with ET. Results There was no significant difference between the two groups in the values of GABA, Glu, 5-HT, Ach and DA (t0.05), while the values of NE was higher in the case group than in the control group (t=-3.552, P<0.001). Conclusion VVS may be related to the high level of activity of NE in the brain.
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Objective To investigate the status of clinical blood transfusion from 2008 to 2014 in order to standardize clinical transfusion management and improve the clinical rational usage of various blood components .Methods By various blood compo‐nents transfusion ,the average quantity of clinical blood transfusion ,4 common blood types and the usage of red blood cells and platelet in different departments were analyzed and compared .Results The rate of blood component transfusion remained at 100%over the 2008 - 2014 year .The utilization of platelet was the highest ,followed by red blood cells and plasma ,and the amount of cryoprecipitate was the least from 2010 .The total consumption of blood was increasing each year ,but there was a downward trend at the average usage of clinical blood ,and also there were significant differences among 4 common blood types ,and the blood compo‐nent transfusion rate was different in different departments in hospital .Conclusion From 2008 to 2014 ,the blood transfusion is ap‐propriate and reasonable ,but still can be improved by effective means .
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BACKGROUND:Nano-hydroxyapatite/polyamide artificial bone has good biocompatibility and strong tissue binding force, which exerts a significant role in the recovery of neurological function. OBJECTIVE: To investigate the clinical effect of nano-hydroxyapatite/polyamide artificial bone in anterior cervical fusion. METHODS: Ninety patients with cervical spondylosis and traumatic dislocation of the cervical spine were randomized into observation group and control group. Patients in the two groups underwent nano-hydroxyapatite/polyamide artificial bone and autologous iliac bone implantation, respectively. Surgical condition, Japanese Orthopaedic Association score, vertebral height loss and bone fusion rate were compared and analyzed at different time after implantation. RESULTS AND CONCLUSION:There were no significant differences in surgical time, out of bed time, postoperative hospitalization time between the two groups (P > 0.05), but the intraoperative blood loss was significantly lower in the observation group than the control group (P 0.05). The vertebral height loss and bone fusion rate had no difference between the two groups at 6 months after operation and at the last folow-up (P > 0.05). No adverse effects occurred in the two groups. These findings indicate that nano-hydroxyapatite/polyamide artificial bone has good clinical effects in anterior cervical fusion, and the treatment effect is equivalent to autologous iliac bone graft.