Objective: To analyze the serological phenotypes and molecular genetic characteristics of a proband with ABO forward and reverse typing discrepancy and their family members, and to investigate the molecular genetic mechanism underlying the Ael/AelB phenotype caused by the c. 575T>C variant on an ABO A1.02 background. Methods: Serological testing and adsorption-elution assays were performed for blood group identification of the proband and family members. PCR-SBT, cloning sequencing, and Nanopore third-generation sequencing were used to analyze ABO gene variants and haplotypes. Phyre2 and PyMOL were used to predict the effect of the p. Ile192Thr variant on the structure of glycosyltransferase A (GTA), and plasma GTA activity was evaluated using an in vitro transferase assay. Results: Among thirteen family members, four members showed a serological phenotype consistent with the Ael subtype and one with the AelB subtype. Cloning sequencing and third-generation sequencing confirmed that five family members carried the ABO A1.02 (c. 575T>C) variant, which co-segregated with the weak A phenotype in the family. Structural modeling suggested that p. Ile192Thr may alter the local spatial conformation and hydrogen-bond interactions of GTA. Plasma GTA activity testing showed markedly reduced GTA activity in the tested individuals. Conclusion: The ABO A1.02 (c. 575T>C) variant is associated with the Ael/AelB phenotype. The p. Ile192Thr substitution may weaken A antigen expression by altering GTA conformation and reducing enzymatic activity. This study provides additional evidence for the role of this variant in the Ael/AelB phenotype from the perspectives of familial inheritance, full-length haplotype analysis, and functional assessment, which is important for accurate ABO subtype identification and individualized transfusion strategies.

Microglia are involved in the inflammatory response and retinal ganglion cell damage in glaucoma. Here, we investigated how microglia proliferate and migrate in a mouse model of chronic ocular hypertension (COH). In COH retinas, the microglial proliferation that occurred was inhibited by the P2X7 receptor (P2X7R) blocker BBG or P2X7R knockout, but not by the P2X4R blocker 5-BDBD. Treatment of primary cultured microglia with BzATP, a P2X7R agonist, mimicked the effects of cell proliferation and migration in COH retinas through the intracellular MEK/ERK signaling pathway. Transwell migration assays showed that the P2X4R agonist CTP induced microglial migration, which was completely blocked by 5-BDBD. In vivo and in vitro experiments demonstrated that ATP, released from activated Müller cells through connexin43 hemichannels, acted on P2X7R to induce microglial proliferation, and acted on P2X4R/P2X7R (mainly P2X4R) to induce microglial migration. Our results suggest that inhibiting the interaction of Müller cells and microglia may attenuate microglial proliferation and migration in glaucoma.
Adenosine Triphosphate/pharmacology* ; Animals ; Cell Proliferation ; Glaucoma/metabolism* ; Mice ; Microglia/metabolism* ; Receptors, Purinergic P2X4/metabolism* ; Receptors, Purinergic P2X7/metabolism* ; Retinal Ganglion Cells/metabolism*

Ras-related C3 botulinum toxin substrate 1 (Rac1), a member of the Rho GTPase family which plays important roles in dendritic spine morphology and plasticity, is a key regulator of cytoskeletal reorganization in dendrites and spines. Here, we investigated whether and how Rac1 modulates synaptic transmission in mouse retinal ganglion cells (RGCs) using selective conditional knockout of Rac1 (Rac1-cKO). Rac1-cKO significantly reduced the frequency of AMPA receptor-mediated miniature excitatory postsynaptic currents, while glycine/GABA receptor-mediated miniature inhibitory postsynaptic currents were not affected. Although the total GluA1 protein level was increased in Rac1-cKO mice, its expression in the membrane component was unchanged. Rac1-cKO did not affect spine-like branch density in single dendrites, but significantly reduced the dendritic complexity, which resulted in a decrease in the total number of dendritic spine-like branches. These results suggest that Rac1 selectively affects excitatory synaptic transmission in RGCs by modulating dendritic complexity.

Background and purpose:Perioperative hypothermia will affect the prognosis of cancer patients. Amino acid infusion can increase the core temperature by endogenous thermogenesis. And the forced-air warming system has gained high acceptance as a measure for rewarming. This study aimed to find out whether amino acid infusion was effective to treat postoperative hypothermia and how well the treatment effect was when compared with the forced-air warming system.Methods:Fifty-seven ASAⅠ orⅡ patients aged 18-60 years undergoing elective esophageal or gastric cancer operation under epidural-general anesthesia and whose core temperature were below 36℃. When admitted to the recovery room wererandomly divided into 3 groups (n=19): GroupⅠ received intravenous infusion of mixed amino acid at a rate of 2 mL·kg-1·h-1 (A); GroupⅡ received a forced-air system (B); groupⅢreceived no therapy (C). Rectal temperature and thermal comfort were recorded per 5 min during the ifrst 1 h and oral temperature and thermal comfort were recorded at the 2, 6 and 24 h. ABG was recorded when patients were admitted to the recovery room and at the ifrst hour.Results:At the ifrst hour, the rectal temperature and thermal comfort of groups A and B were higher when compared with group C (P<0.05), and there was no difference between groups A and B (P>0.05). At the second and sixthhour, the temperature and thermal comfort of group A were higher when compared with group B and C (P<0.05), and there was no difference between groups B and C (P>0.05). At the 24th hour, there were no statistically signiifcant differences in the temperature and thermal comfort among the three groups (P>0.05).
Conclusion:The rewarming effect of infusion of mixed amino acid is better than that of the forced-air warming system. It is the more effective and convenient method to rewarm the postoperative hypothermia.

Objective To study the association of tryptophan hydroxylase-2 (TPH2) gene polymorphism and antisocial personality disorder (ASPD) and its impulsivity in Chinese Han population. Methods The single nucleotide polymorphism (SNPs) of TPH2 in transcriptional control region,-703G/T,was analyzed by PCR-RFLP genotyping assay in 117 ASPD patients and 142 healthy controls. Barratt Impulsiveness Scale-11 (BIS-11) was used to evaluate the impulsivity of subjects. Results There were significant differences between ASPD and controis on genotype and allele frequencies of TPH2-703G/T (x2 = 7.73, P ＜ 0.05; x2 = 5.12, P ＜ 0.05). The GG genotype and G allele were positively associated with ASPD(OR = 1.458,95% CI = 1.080 ～ 1.968 ;OR = 1.479,95% CI = 1.045 ～ 2.094). The scores of BIS-11 and its factors in GG genotype group((71.28 ± 7.50), (19.60 ±3.41), (25.73 ± 4.92), (25.95 ± 4.77) ) were higher than GT genotype group (( 66.23 ± 8.06), (17.79 ±3.02) ,(23.06 ±3.84) ,(25.38 ±4.97)) and TT genotype group((66.55 ±8.49),(18.50 ±3.35),(23.45 ±4.08), (24.97 ± 4.90)), but only the difference of BIS-11 total scores, the attention and motor factor scores among three groups were statistically significant (P＜0.05). The scores of BIS-11 and its factors in G allele group ((69.38 ±8.04), (18.92 ± 3.36), (24.73 ±4. 69), (25.73 ±4.82)) were higher than T genotype group ((66.41 ±8.22),(17.98 ±3.26),(23.27 ±3.94), (25.15 ±4.89)),however,only the difference of BIS-11 total scores, the attention and motor factor scores between two groups were statistically significant.Conclusion TPH2-703G/T polymorphism may be association with ASPD in Chinese Han population. The GG genotype and G allele may be the risk factors of ASPD and impulsivity.

Objective To explore the expression and effect of MP0 and TGF-β1 in ulcerative colitis tissues.Methods The expressions of MPO and TGF-Bl in colonal tissue specimens were determined by immunohistochemistry(two step method)in 37 cases of ulcerative colitis,10 crohng disease and 20 normal mucosa.Results The positive rates of MPO and TGF.B1 were 10％and 20.0％in the normal mucosa,55.0％and 35.O％in crohn's disease,and 89.2％and 86.5％in ulcerative colitis.Expression of MPO and TGF-β1 in the ulcerative colitis were higIIer than that in crohn's disease and normal mucosa(P<0.05),there was correlation between MPO and TGF-β1(r=O.51,P<0.05).Conclusion MPO and FGF-β1 are involved in the pathology of UC,and detection of MPO and TGFβ1 can provide some value to evaluate the conditions of UC.

ObjectiveTo study the effect and mechanisms of nourishing Piyin Remedy (nPR) and bovine brain extract (bBE) on experimental spinal cord injury (SCI) of rat.Methods80 healthy SD rats were divided into 5 equal groups randomly: bBE group supplied through subarachnoid cavity, normal saline (NS) group supplied through subarachnoid cavity, nPR group, NS orally taken group, combined group. Animal models were made by Allen's equipment on T8～T9 segment. The spinal nerve function, somatosensory evoked potentials (SEP), retrograde and label technique of horseradish peroxidase, gross observation, histological and morphometric analysis were taken as the observed indices.ResultsThe values of observed indices of bBE group and nPR group improved evidently compared with their own control groups; that of combined group was prior to sole administration.ConclusionnPR can hold back the secondary SCI and accelerate the recovery of spinal nerve function; bBE can stimulate the improvement of injuried nerve fibers; the joint of nPR and bBE can make a synergic effect.

ObjectiveTo study the therapeutic effect and mechanisms of nourishing Piyin Remedy (nPR) on experimental rat spinal cord injury.MethodsThirty-two healthy SD rats were divided into 2 equal groups randomly: nPR group and injured group. Animal model of incomplete injury of spinal cord was made by Allen's equipment on rat's T8—T9 segment. The spinal nerve function,SEP,retrograde and label technique of horse radish peroxidase,gross observation,histological and morphometric analysis were taken as the observed indices.ResultsThe value of observed indices of nPR group were improved evidently compared with injured group.ConclusionNourishing Piyin Remede can hold back the secondary spinal cord injury and accelerate the recovery of spinal nerve function.