Objective To investigate the preparation of chitosan (CS) temperature-sensitive gel loaded with human platelet lysate (HPL), and to verify its repairing effect in refractory wounds in high-altitude diabetic rats. Methods The ratio of CS and HPL was adjusted, and the optimal preparation conditions of HPL-CS temperature-sensitive gel were determined by apparent and electron microscopy observation, and the gel formation was observed at different temperatures. SD rats were divided into plain group and plateau group, and then randomly divided into control group, model group, CS group and HPL-CS group. There was no treatment in the control group, only modeling was done in the diabetic group, CS gel was applied daily in the CS group, and HPL-CS temperature sensitive gel was applied daily in the HPL-CS group. The wound healing of each group was compared at day 0, 3, 7, 14 and 21, and samples were collected at day 7, 14 and 21 for Hematoxylin-Eosin staining (H&E)and Masson staining. Results HPL:CS=1:1 was the optimal ratio to prepare of HPL-CS gel. HPL-CS temperature-sensitive gel formed a gel at 37 ℃, and the liquid precipitated at 22 ℃, but the liquid state could not be completely restored. The wound healing rate in HPL-CS group was higher than that in Model group and in the CS group at all time points, no matter in plain group or plateau group. Pathological results showed that the HPL-CS group had fewer inflammatory cells, more epithelial cells, more tightly arranged collagen fibers, and much more neovascularization compared with the other groups. Conclusion HPL-CS temperature-sensitive gel can significantly improve the repair effect of diabetes refractory wounds in high-altitude environment.
Objective To elucidate the molecular mechanisms by which Sema7a promotes inflammatory regression in acute pneumonia. Methods We investigated the role of soluble Sema7a in regulating macrophage metabolic reprogramming, promoting M2 polarization, accelerating inflammation resolution, and facilitating pulmonary homeostasis in a mouse model of acute pneumonia by employing Sema7a-eKO knockout mice, HE staining, ELISA, and advanced proteomic analyses. Results Both Sema7a-/- and Sema7a+/+ pneumonia models exhibited different degrees of destruction of alveolar structures in both groups at 24, 48, 72, and 96 h. Notably, Sema7a-/- mice displayed exacerbated more neutrophil/erythrocyte infiltration and more severe alveolar destruction compared to Sema7a+/+ mice. Sema7a-/- mice demonstrated prolonged resolution intervals (26.2 h vs. 13.8 h, P<0.05) and significantly elevated IL-6, KC, TNF-α, and IL-1β levels in bronchoalveolar lavage fluid at 48 h (P<0.05). 5D Label-free proteomic analysis revealed 101 320 peptide fragments and 7 357 protein alterations in Sema7a-treated macrophages. 59 proteins were associated with cellular processes, 52 with biological regulation, and 37 with metabolic processes (all P<0.05). Mitochondrial respiratory chain signaling showed significant modulation. Sema7a downregulated M1 markers (STAT-1, CD40, CD80) and pro-inflammatory cytokines while upregulating M2 markers (Arg1, CD163, CD206) and IL-10 at the protein level. Conclusion In an acute pneumonia model, soluble Sema7a protein can enhance mitochondrial oxidative phosphorylation through macrophage metabolic reprogramming, which drives M2 polarization, accelerates inflammatory cell clearance, and ultimately restores pulmonary homeostasis.
Objective To analyze the risk of severe anemia and blood transfusion in perinatal M antigen-positive fetuses and neonates caused by maternal plasma anti-M antibodies during pregnancy, and to explore the effect of anti-M antibodies on the apoptosis rate of M antigen-positive red blood cells. Methods Serological methods were used to identify the ABO, RhD, MN blood types of umbilical cord blood of pregnant mothers and fetuses, as well as the Coombs test of newborns. Experimental group: The plasma of three mothers containing anti-M antibodies was respectively compared with the MN-type red blood cells of blood donors with the same ABO type; Control group: AB-type plasma with negative irregular antibody identification and MN-type red blood cells from AB-type blood donors. In vitro culture was carried out by simulating the in vivo environment of the human body to monitor the apoptosis rate of M antigen-positive red blood cells at 24 hours, 48 hours and 72 hours. Results Anti-M antibodies were present in the plasma of all three mothers, which led to severe anemia in the fetus in utero or after the birth of the newborn. The apoptosis rates of M antigen-positive red blood cells at 24 hours, 48 hours and 72 hours were monitored by simulating the in vivo environment of the human body. In the control group: 1.46%, 3.35%, 29.7%; Plasma of mothers in the experimental group: 3.17%, 42.8%, 73.9%; Mother's plasma 2:4.68%, 32.1%, 59.2%; Mother 3 plasma: 4.15%, 33.7%, 69.3%. Compared with the control group, the plasma anti-M antibody of pregnant mothers can induce the accelerated apoptosis of M antigen-positive red blood cells within 72 hours. The higher the titer of the anti-M antibody, the faster the apoptosis rate of M antigen-positive red blood cells. Conclusion Anti-M antibodies in the plasma of pregnant mothers can cause severe anemia in fetuses and newborns, and have the ability to accelerate the apoptosis of M antigen-positive red blood cells. Select M antigen-negative red blood cells for blood transfusion to avoid the harm of adverse blood transfusion reactions.
Objective To investigate the therapeutic effects of intra-articular injection of autologous apheresis platelet-rich plasma (PRP) and hyaluronic acid (HA) in the kenn of people with knee osteoarthritis (KOA). Methods From January 2022 to June 2023, 60 patients with KOA were randomly divided into two groups of intra-articular HA and PRP. The patients of the two groups were followed up for three months and different outcomes were recorded. The visual analog scale (VAS) scores, McMaster index (WOMAC) and Lysholm scores of knee function evaluated all patients at rest and during movements. Measurements were taken at the beginning, the first month treatmen and the third month of treatment. Results In both groups of patients, at 1 month and 3 months after treatment, the VAS pain score and WOMAC score were lower than the baseline value (P<0.05), while the Lysholm score was higher than the baseline value (P<0.05). The change at three months of treatment was more significant than that at one month of treatment (P<0.05). Moreover, the change in scores in PRP group were more significant than those in HA group (P<0.05). Conclusion In terms of short-term pain relief and functional improvement in patients with KOA, autologous apheresis PRP treatment is superior to HA.
Objective To analyze the distribution patterns of ABO blood types, Rh phenotypes (D, C, c, E, e), and irregular antibodies in our hospitalized patients with malignant tumors, and explore their correlation with tumor types. Methods We statistically analyzed the distribution of blood types, irregular antibodies, and the frequency of Rh antigen distribution from the laboratory results of 7 567 hospitalized patients with malignant tumors admitted to our hospital from March 2021 to June 2024. Results ①The distribution of ABO blood types was B (31.14%)>A (29.56%)>O (29.40%)>AB (9.90%). Compared with the ABO blood type distribution among blood donors in Shaanxi Province, the ABO blood type distribution among patients with digestive system malignancies shows a statistically significant difference (P<0.05). Compared with the overall ABO blood type distribution in China, the ABO blood type distribution among patients with digestive system malignancies (P<0.001), the differences in the distribution of ABO blood groups for hemolymphatic (P<0.001), respiratory (P<0.05) and other (P<0.05) malignancies were statistically significant. ②The distribution of Rh phenotypes among RhD-positive patients was CCDee (39.90%)>CcDEe (38.53%)>CcDee (8.96%)>ccDEE (7.84%)>ccDEe (3.65%)>CCDEe (0.55%)>ccDee (0.41%)>CcDEE (0.16%). Statistical analysis indicates that the distribution of Rh phenotypes among RhD-positive population was different among hospitalized patients with malignant tumors of different ABO blood groups, and the difference was statistically significant (P<0.05). Further analysis showed that the differences in the distribution of ccDEE phenotypes among different ABO blood groups were statistically significant (P<0.05), while the differences in other phenotypes among ABO blood groups were not statistically significant (P>0.05). ③The antigen frequency of Rh phenotypes from highest to lowest, is D(99.31%), e(92.04%), C(87.80%), c(59.80%), and E(50.47%), which were basically consistent with the positivity distribution of Rh phenotype in healthy blood donors in Xi'an, and the difference was not statistically significant (P>0.05).④The results of the initial screening for irregular antibodies were negative in 7 452 cases (98.48%), positive in 115 cases (1.52%), and changed from negative to positive in a total of 89 cases, with the highest percentage of positives being hematologic-lymphatic malignancies (63.24%). The results of initial screening for irregular antibodies were negative in 7 452 cases (98.48%) and positive in 115 cases (1.52%). Among these, 89 cases shifted from negative to positive, with the highest proportion of positives being hematolymphatic malignancies (63.24%). Conclusion The distribution of ABO and Rh blood types among malignant tumor patients was correlated with tumor types, particularly prominent in the digestive and hematolymphatic systems. The distribution of the ccDEE phenotype among RhD-positive patients also varied significantly among different ABO blood types. The changes in irregular antibodies suggest that patients with hematolymphatic malignancies should be closely monitored for blood transfusion during hospitalization.
BAO Jingjing, WANG Yunqiang, ZHANG Jian, LIU Fufa, WANG Lin, YAN Feng, LI Li, WANG Zhenxing, LIU Yajun, ZHANG Wei, LI Ying, YU Qin, ZOU Binbin, ZHAO Yuwei, ZHU Xiangming, FENG Weiping, LI Yujun, TANG Fei, LU Ranran, QIU Changwen, DUAN Yong, WEN Tao, WAN Yanhong, LIU Dong, YUAN Xiaohua, ZHANG Qian, YANG Zhongsi, QIU Yan
Objective To understand the prevalence of HBV (hepatitis B virus) infection among blood donors in China by analyzing the results of different HBV marker tests in 32 Blood Stations. Methods Relevant data were collected from the Practice Comparison information management system of Blood Transfusion Service in Mainland China. Data on first-time and repeated blood donors from 32 Blood Stations between 2017 and 2023 who had tested positive for different HBV markers were selected. The rates of HBsAg (hepatitis B surface antigen) ELISA (enzyme-linked immunosorbent assay), HBV DNA (deoxyribonucleic acid) test failure rates among ELISA-qualified samples, and overall HBV test failure were calculated for each blood station, and statistical analyses were conducted. Results From 2017 to 2023, the range of HBsAg ELISA test failure rates among first-time blood donors was 51.69/10 000 to 76.44/10 000 (the median is 58.75/10 000), while for repeated blood donors, the range was 9.17/10 000 to 18.62/10 000 (the median is 14.05/10 000). The range of HBV DNA test failure rates was 6.26/10 000 to 8.32/10 000 (the median is 7.14/10 000), and the range of overall HBV test failure rates was 36.51/10 000 to 58.86/10 000 (the median is 43.76/10 000). Conclusion Although there were fluctuations, the overall rates of HBsAg ELISA test failure, HBV DNA test failure rates among ELISA-qualified samples, and overall HBV test failure showed a downward trend. The distribution of HBV infection among blood donors in China is regional.
ZHANG Qi, GUI Rong, LIU Juan, ZHANG Jun, ZHOU Lujie, LIU Fenghua, LV Xianping, HU Junhua, ZHOU Jun, MA Xinghuan, WANG Peng, YANG Jiangcun, DU Chunhong, LI Xiying, QIN Li, GONG Jiwu, XIA Rong
Objective To investigate the infection status of HBV, HCV, and HIV in patients with secondary immunodeficiencyby a multicenter analysis. Methods Blood samples of preoperative or pre-transfusional patients were collected from ten medical institutions for HBV, HCV and HIV detection from July 2021 to December 2021 and from January 2023 to June 2023. Results A total of 25 927 samples were collected in this study, including 4 609 (17.78%) from patients with secondary immunodeficiency, comprising 19 patients on hemodialysis, 44 patients undergone organ transplantation, and 4 546 patients with malignant tumors. During the same period, 21 318 general patients (82.22%) were also tested. Thepositive rates of HBV, HCV and HIV in secondary immunodeficiency patients were 7.29%, 0.28% and 0.09% respectively, while thepositive rates of HBV, HCV and HIV were 5.40%, 0.32% and 0.05% in general patientsrespectively. Moreover, there was significant difference in the positive detection rate of HBV assessed by the two methods. Among patients with secondary immunodeficiency, the detection rate of serological negativity and nucleic acid positivity was 1.04% (48 cases), whilethe detection rate of serological positivity and nucleic acid negativity was 0.52% (24 cases). Among general patients, the detection rate of serological negativity and nucleic acid positivity was 0.82% (174 cases), andthe detection rate of serological positivity and nucleic acid negativity was 0.42% (89 cases). Conclusion The risk of HBV infection insecondary immunodeficiency patients was higher than that general patients. Nucleic acid test has the advantage on increasing the detection rate of HBV in immunodeficient patients before surgery and blood transfusion.
Objective To investigate the apoptosis status of lymphocytes exposed to X-ray irradiation and evaluate changes in the quality of red blood cells (RBCs) at different preservation periods post-irradiation, thereby assessing the efficacy of X-ray irradiation and determining the optimal timing for clinical application of irradiated RBCs. Methods Thirteen blood samples donated by voluntary donors were selected. For each sample, 5 mL of whole blood was collected into four test tubes and divided into four groups: day 0 (d0), day 7 (d7), day 14 (d14) and day 21 (d21). Lymphocytes were extracted during the corresponding preservation periods and further categorized into a lymphocyte control group and an irradiation group. The irradiation group was exposed to 25 Gy X-ray irradiation, and the apoptosis rate of lymphocytes in each group was measured using flow cytometry. The remaining blood was processed into leukoreduced suspended RBCs and divided into an RBCs control group and irradiation groups (d0, d7, and d14).Each irradiation group was exposed to 25 Gy X-rays during the respective storage periods. Changes in potassium (K+), free hemoglobin (FHb), adenosine triphosphate (ATP), and 2, 3-diphosphoglyceric acid (2, 3-DPG) were detected on days 0, 7, and 14 post-irradiation and during the corresponding preservation periods. Results X-ray irradiation effectively induced lymphocyte apoptosis, with the apoptosis rate gradually decreasing as the preservation time of whole blood increased.The apoptosis rates of lymphocytes in the d0, d7, and d14 irradiation groups were significantly higher than those in the control groups during the same periods (P<0.05). However, no significant difference in apoptosis rate was observed between the d21 irradiation group and the control group (P>0.05). The K+ content in the d0 and d7 irradiation groups on days 7 and 14 post-irradiation, as well as in the d14 irradiation group on days 0, 7, and 14 post-irradiations, was significantly higher than that in the corresponding control groups (P<0.05). No statistically significant differences were observed in the other groups (P>0.05). The FHb content in the d7 irradiation group on day 14 post-irradiation and in the d14 irradiation group on days 7 and 14 post-irradiation was significantly higher than that in the corresponding control groups (P<0.05). No statistically significant differences were observed in the other groups (P>0.05).The ATP content in the d14 irradiation group was significantly lower than that in the control group on day 14 post-irradiation (P<0.05). No statistically significant differences were observed in the other groups (P>0.05). There were no statistically significant differences in 2, 3-DPG content between the irradiation groups and the control group (P>0.05). Conclusion Exposure to 25 Gy X-rays has a significant effect on lymphocytes within the first 14 days of preservation, inducing apoptosis. The timing of RBCs irradiation influences blood quality at different preservation periods post-irradiation. When administering irradiated RBCs to special patients, careful consideration should be given to the timing of irradiation and the preservation period post-irradiation.
Objective To establish a database of CD36 antigen-deficient platelet donors in Dongguan and analyze the characteristics. Methods Samples from 565 blood donors were tested for platelet CD36 antigen expression using flow cytometry. The gene sequences of 13 CD36-deficient samples and 187 samples from blood donors included in the database were analyzed using the third-generation gene sequencing (TGS). Results Flow cytometry detected CD36 deficiency in 13 cases, yielding a deficiency rate of 2.30% (13/565). Of these, 2 cases were type Ⅰ deficient (15.38%) and 11 cases were type Ⅱ deficient (84.62%). There was no significant difference in the rate of CD36 antigen deletion based on gender (P>0.05), ethnicity (Han vs. minority groups, P>0.05), or ABO blood group distribution (P>0.05). TGS revealed mutations in 7 of the 13 CD36 deficient samples, including 5 exons and 2 intron regions. Both type Ⅰ cases showed no detectable mutations, while all type Ⅱ cases exhibited heterozygous mutations. Additionally, 27 CD36 gene mutations were identified in 187 CD36 normal donors. The mutation rate in CD36 deficient donors (53.85%, 7/13) was significantly higher than that of CD36 normal donors (14.44%, 27/187) (P<0.05). Conclusion The frequency of platelet CD36 deficiency in Dongguan is higher than that reported in Chongqing but consists with findings from other Chinese regions. Establishing a serologically validated CD36-deficient platelet donor database in the area is recommended to enhance clinical transfusion safety.
SU Shu, GU Xiaoyun, ZHANG Lei, MA Ting, SONG Aowei, NIU Jiameng, WU Wenjie, XIE Xinxin, WANG Wenhua, WANG Liqin, CHENG Qianke, GUO Lingxia, YANG Jiangcun, SUN Yang
Objective The long-term effects of blood donation on health, especially concerning chronic diseases with delayed onset, are not well-studied. The Objective of this study was to investigate the health impacts of blood donation among elderly Chinese donors versus non-donors over an extensive follow-up period. Methods In January 2012, a cohort of adults with matched demographics (birth year, sex, residence) was selected from electronic health records in Shaanxi, China, including equal numbers of blood donors and non-donors. The cohort was followed up until December 31, 2018. Cox regression was used to calculate hazard ratios (HRs) for chronic disease hospitalizations. Multimorbidity network analysis was employed to assess hospitalization patterns. Results A total of 175 715 blood donors and an equivalent number of non-donors contributed to 1 246 130 person-years of follow-up, with a mean age of 50.0±4.4 years. Participants over 45-year-old with more than four and five donations had lower cancer hospitalization rates (adjusted HR 0.894 and 0.872, P<0.001). Those over 50-yaer-old showed lower cancer (adjusted HR 0.783 and 0.748, P<0.001) and respiratory disease rates (adjusted HR 0.883 and 0.845, P<0.001). Donors over 55-yaer-old with more than four and five donations had reduced disease risks (adjusted HR 0.915 and 0.890, P<0.001). Multimorbidity networks showed non-donors had 1.77 times more complex networks than male donors and 2.03 times more complex than female donors. Conclusion Blood donation may lead to better health outcomes in the elderly by reducing hospitalization risks for chronic diseases, suggesting potential health benefits of blood donation with age.
Objective To analyze the literature on platelet-rich plasma (PRP) therapy for osteoarthritis from a bibliometric perspective and identify the current research status and future trends. Methods Relevant literature on PRP therapy for osteoarthritis was retrieved from the Web of Science Core Collection database. CiteSpace and VOSviewer software were used to analyze publication volume, institutions, authors, and keywords. Results A total of 728 articles were included. Since 2018, research activity has increased significantly, with a focus on cartilage repair and anti-inflammatory mechanisms. Keyword burst analysis indicated that PRP combined with stem cell therapy may become a future research direction. Conclusion Research on PRP therapy for osteoarthritis is progressing toward deeper exploration of mechanisms and clinical applications. Future studies should emphasize international collaboration and the development of personalized treatment strategies.
Objective To investigate the impact of major and bidirectional ABO blood group incompatibility on the outcomes of unrelated cord blood transplantation (CBT). Methods This retrospective study included 757 patients who underwent unrelated CBT at the First Affiliated Hospital of the University of Science and Technology of China from January 2020 to October 2024. Based on donor-recipient ABO compatibility, patients were categorized into two groups: the major/bidirectional incompatibility group (n=312) and the compatible/minor incompatibility group (n=445). Transplantation outcomes were compared between the two groups. Results The median time to neutrophil, platelet, and red blood cell engraftment was 16 vs. 15 days (P=0.790), 37 vs. 36 days (P=0.101), and 25 vs. 21 days (P<0.05), respectively, in the major/bidirectional incompatibility group compared with the compatible/minor incompatibility group. No cases of pure red cell aplasia (PRCA) were observed in either group. The 100-day cumulative incidence of grade Ⅱ-Ⅳ and grade Ⅲ-Ⅳ acute graft-versus-host disease (aGVHD) was 30.5% vs. 28.9% (P=0.996) and 20.3% vs. 14.7% (P=0.275), respectively; the 2-year cumulative incidence of moderate-to-severe chronic GVHD (cGVHD) was 3.39% vs. 4.14% (P=0.831). The 1-year incidence of clinically significant cytomegalovirus (CMV) infection was 73.5% vs. 69.3% (P=0.316). The 2-year transplant-related mortality (TRM) and overall survival (OS) rates were 15.3% vs. 13.2% (P=0.791) and 76.9% vs. 78.3% (P=0.743), respectively. Conclusion Major and bidirectional ABO incompatibility had no significant effect on engraftment, incidence of aGVHD and cGVHD, CMV infection, TRM, or OS in CBT patients. Although red blood cell engraftment was significantly delayed in the major/bidirectional incompatibility group, no transplantation-related PRCA was observed.
Objective To investigate the molecular mechanism in a case of ABO typing discrepancy. Methods A blood donor was enrolled on March 8, 2023 at the Shenzhen Blood Center. The ABO phenotype was identified using serological testing methods. Enzyme activity assay was performed to determine the activity of B-glycosyltransferase (GTB) in serum. ABO gene exons 1-7 and flanking sequences were amplified and subjected to Sanger sequencing. Haplotypes were determined by isolating haploid DNA using TA cloning technology and subsequent sequencing. Results Serological analysis revealed the forward type as O and the reverse type as O (difference in titer≥2). Enzyme activity assay conducted in vitro did not detect any GTB activity. Haplotype cloning and sequencing analysis identified the ABO allelic genotype of the participant as c.213-217delC in ABO*B.01/ABO*O.01.02. A single-base deletion, c.213-217delC, was observed in the ABO*B.01 allele gene, resulting in the substitution of glutamine with serine at position 73 of GTB (p.Gln73Ser) and premature termination codon appearance (73fs+3aaX). This variation has not been reported previously. Conclusion The frame-shift mutation caused by the single-base deletion c.213-217delC on the ABO*B.01 allele gene results in the loss of B antigen.
Objective To analyze the cause of acute immune hemolytic transfusion reaction in a patient during blood transfusion, and explore the clinical detection methods and coping strategies of easily attenuated and low titer blood type antibodies in immune hemolytic transfusion reaction. Methods ABO, Rh, Kidd blood type test, unexpected antibody identification in serum and red blood cell eluate, direct anti-globulin test were performed on patients. Combined with the patient's clinical symptoms and laboratory test results, the types of unexpected antibodies that caused hemolytic transfusion reactions in the patient's body were detected. Results The patient's blood type was A type, CCDee, Jk(a-b+), Anti-E antibodies were detected in the serum. After the fifth transfusion, the patient experienced an acute hemolytic transfusion reaction. The PEG enhanced method was used to detect the presence of new anti Jka antibodies in the sample before the transfusion reaction, and the red blood cells of the donor were CCDee, Jk(a+b+), the PEG method and CCDee, Jk(a+b-) homozygous donor red blood cells were cross matched with the pre transfusion specimen of the patient, and both sides were mismatched, resulting in hemolytic transfusion reactions in the patient. Conclusion Kidd blood type system antibodies often rapidly decrease and have low potency both in vitro and in vivo. Conventional laboratory testing methods are prone to missed detection, and this antibody has a dose effect, leading to the omission of heterozygous red blood cells incompatible in cross matching, resulting in acute hemolytic transfusion reactions. It is recommended that the laboratory be alert to the production of Kidd blood type system antibodies in the serum of patients who have undergone multiple blood transfusions. A comprehensive testing method should be built up to improve the sensitivity of antibody detection. At the same time, for the same type of antibodies that have been produced, they should be recorded and archived, and the patient and clinical physician should be informed in advance to the transfusion department before the next blood transfusion to avoid serious hemolytic transfusion reactions in patients.
Objective To investigate immune hemolytic anemia induced by ceftizoxime sodium, focusing on its serological characteristics and clinical diagnostic approaches. Methods A patient who developed immune hemolytic anemia following ceftizoxime sodium administration in April 2024 was enrolled. Serological tests, including the direct antiglobulin test (DAT), serum antibody screening, elution testing, drug-dependent antibody detection, and in vitro hemolysis assays, were done to identify drug-specific antibodies. Results The patient's DAT results were positive for anti-IgG and anti-C3d. Serum antibody screening showed pan-reactivity, while elution tests were negative. Drug-dependent IgM (titer 32) and IgG (titer 16) antibodies specific to ceftizoxime sodium were confirmed. In vitro experiments revealed that these antibodies induced erythrocyte hemolysis in the presence of calcium ions and complement. Conclusion Ceftizoxime sodium activates complement through an immune complex mechanism, leading to acute intravascular hemolysis. Rapid recognition of drug-induced immune hemolytic anemia (DIIHA), establishment of standardized laboratory protocols for detecting drug-dependent antibodies, and immediate discontinuation of the sensitizing drug are critical for effective clinical management.
Objective To analyze the clinical phenotype and genetic variation of a consanguineously married family with deficiency resulting from a homozygous missense mutation c.826T>C (p.Cys247Arg) in exon 8 of the coagulation factor Ⅻ (FⅫ) gene, and investigate the molecular mechanism. Methods A male proband with hereditary FⅫ deficiency, who was found to have abnormal coagulation function during a physical examination for hematopoietic stem cell donation on October 13, 2023, and his family members (five individuals across three generations) were selected as the research subjects. Using direct DNA sequencing technology, we conducted a comprehensive analysis of the F12 gene in the proband, which included the determination of all exons and their flanking sequences, as well as the analysis of corresponding variant regions in family members. The potential pathogenicity of the variant sites was assessed using bioinformatics software. Results The proband activated partial thromboplastin time (APTT) was significantly prolonged to 158.4 seconds, while the APTT mixing test showed correction. The proband's Factor Ⅻ activity (FⅫ:C ) and Factor Ⅻ antigen (FⅫ:Ag ) were 0% and 2% respectively. A homozygous missense mutation c.826T>C (p.Cys247Arg) was identified in exon 8 of the F12 gene, with both the father and mother being heterozygous carriers of this variant. Bioinformatics software analysis revealed that Cys247 is highly evolutionarily conserved, and this variant was determined to be pathogenic. Conclusion The c.826T>C variation in exon 8 of F12 gene might be associated with the decreased level of FⅫ in this family, and this variation was first reported in the world.
Objective To identify irregular antibodies in a patient with a history of blood transfusion six months prior and the presence of DAT. Methods Two sets of antibody screening cells and two sets of screening panel cells were utilized to screen and identify irregular antibodies. Capillary ultra-high-speed centrifugation was employed to separate new and old cells, thereby determining the positive type of direct anti-human globulin. Antibody identification was subsequently performed in an acid release solution, and antibody specificity was determined in conjunction with patient antigen typing. Results Anti-Dia and anti-Wra antibodies were detected in the patient. Distal DAT typing was positive for anti-IgG1 and negative for anti-C3d. Proximal DAT typing was negative for both anti-IgG and anti-C3D. Anti Dia and anti-Wra antibodies were detected in the release fluid. Conclusion The patient exhibited the presence of anti-Dia and anti-Wra antibodies. These antibodies were confirmed in the release fluid, indicating that the patient produced identical anti-Dia and anti-Wra alloantibodies.
Fatty acid synthase (FASN) is a key enzyme that catalyzes the de novo synthesis of fatty acids, with its classical functions primarily associated with energy storage and biofilm construction. Accumulating evidence indicates that FASN contributes to the occurrence and development of autoimmune diseases through the regulation of cellular signal transduction, modulation of inflammatory responses, and influence on immune cell function. This review summarizes the structural characteristics of FASN, its regulatory roles in immune cell activity, its underlying mechanisms in autoimmune pathogenesis, and explores potential therapeutic strategies targeting FASN, with the aim of providing novel insights into the treatment of autoimmune disorders.
Red blood cell (RBC) alloimmunization is a significant immunological concern in clinical transfusion. It refers to the immune response wherein the recipient recognizes foreign RBC antigens and produces specific antibodies, potentially leading to hemolytic transfusion reactions or hemolytic disease of the fetus and newborn in severe cases. This immune process is possible dependent on the antigen presentation mechanism mediated by HLA class Ⅱ molecules, involving the presentation of antigens by dendritic cells, recognition and activation by CD4+ T cells, and subsequent help to produce IgG antibody by B cells. Whether an individual develops antibodies upon exposure to alloantigens is closely related to dosage,their immune status, inflammatory environment, and genetic background. The high polymorphism of HLA class Ⅱ genes underlies the inter-individual variability in immune responses to specific RBC antigens. Certain alleles, such as HLA-DRB1*04 and DRB1*15, have been shown to enhance peptide presentation capabilities, significantly increasing the risk of antibody formation. In contrast, some HLA class Ⅱ alleles may exhibit protective effects. Here we systematically reviewed the association and potential mechanisms between HLA class Ⅱ genes, represented by HLA-DRB1 and HLA-DQ, and the development of RBC alloantibodies. The aim is to provide a theoretical basis for individualized transfusion strategies and immune risk prediction in clinical practice.
The artificial liver support system constitutes a critical intervention in the therapeutic management of patients experiencing liver failure and is applicable at any stage of the disease progression. Given that the trajectory of liver failure is frequently associated with significant immune dysfunction, the artificial support system not only enhances hepatic function and improves coagulation disorders but may also concurrently modulate the patient's immune response. This modulation includes the regulation of lymphocytes and mononuclear macrophages. We conducted a retrospective analysis of various aspects, including alterations in immune function among patients with liver failure, the operational mechanisms of the artificial liver support system, and the modulation of the immune system. The findings offer a prospective research trajectory for the advancement of artificial liver support systems.