Inherited thrombocytopenia is a group of heterogeneous inherited diseases mainly characterized by platelet count defects. It is a monogenic disease caused by mutations in various genes. Animal models are crucial for studying the pathogenesis and treatment strategies of inherited thrombocytopenia. Previous reviews on animal models of inherited thrombocytopenia have mostly focused on a single species, such as mice or zebrafish. This article systematically summarizes the construction, phenotypes, and characteristics of multiple animal models (mice, zebrafish, and primate animal) of inherited thrombocytopenia-causing genes, thereby providing a systematic reference for a comprehensive understanding of the research progress of its animal models.

[Objective] To identify the ABO blood group of a patient with rare B antigen-specific autoantibody with cold agglutinin, and evaluate the effect of blood transfusion. [Methods] Red blood cells of patient were washed with 37℃ physiological saline and treated with sulfhydryl reagent. ABO blood group antigen was detected by tube method and microcolumn gel method. After the cold agglutinin was removed by EDTA anticoagulant plasma absorbed by type O red blood cells at 4℃, the related blood group antibodies were detected by type B red blood cells absorbing and releasing liquid at 4℃. The blood transfusion effect of patients was evaluated by the changes of hemoglobin before and after transfusion, and their ABO blood group was continuously monitored. [Results] B antigen was detected in the positive setting of serological experiment, cold agglutinin was detected by absorption and elution of type O red blood cells, and anti-B antibody was detected by absorption and elution of type B red blood cells. That is, there was specific autoantibody against B antigen, and the antibody property was IgM. No adverse reactions occurred during the infusion of 3 U type O washed red blood cells and the infusion was effective. The patient was continuously followed for two months, and the forward and reverse blood group identification were consistent, both of which were type B. [Conclusion] According to the previous blood group identification results, serological identification and follow-up comprehensive analysis, the ABO blood group of the patient is type B, but there are transient high titer cold agglutinin and B antigen-specific autoantibodies.

Inherited thrombocytopenia refers to a group of rare hereditary disorders characterized by a sustained reduction in platelet count. Different genetic mutations are associated with diverse clinical manifestations and prognoses, with certain mutations even predisposing to hematological malignancies. Next-generation sequencing (NGS) has enabled efficient identification of pathogenic variants in relevant genes, significantly advancing research progress, and numerous genes have been implicated in these disorders. This review expands the scope of relevant genes, refines the classification mechanism, and is not limited to a single population compared to previous research. It focuses on elucidating the genetic etiology and pathological mechanisms of inherited thrombocytopenia, while highlighting the critical role of identifying germline mutations in achieving precise diagnosis.

Objective To analyze the relationship of capillary index score(CIS)with postoperative outcome in the patients with middle cerebral artery(MCA)M1 segment stenosis after endovascu-lar stent implantation.Methods A total of 122 eligible patients in our hospital from April 2021 to April 2023 were retrospectively recruited,and according to postoperative status,they were classi-fied into a good prognosis group(89 cases)and a poor prognosis group(33 cases).The clinical data were collected,and the preoperative and postoperative CIS values were evaluated.Spearman correlation analysis was applied to analyze the correlation of CIS with prognosis of the patients.ROC curve was plotted to evaluate the value of CIS in predicting postoperative prognosis,and multivariate logistic regression analysis was utilized to analyze the factors affecting the postopera-tive prognosis.Results The poor prognosis group exhibited significantly lower CIS,and larger proportions of aged ≥75 years,diabetes and history of stroke than the good prognosis group(P＜0.05,P＜0.01).Spearman correlation analysis found that CIS was positively correlated with prog-nosis after endovascular stent implantation in the patients with MCA M1 segment stenosis(r=0.446,P=0.000).ROC curve analysis revealed that the AUC,cut-off value,sensitivity and speci-ficity of CIS in predicting the postoperative outcomes in these patients was 0.790(95％CI:0.706-0.858),2.17,84.85％and 66.29％,respectively(P＜0.05).Multivariate logistic analysis suggested that age ≥75 years,history of stroke,and concurrent diabetes were high risk factors for poor prognosis in the patients after endovascular stent implantation(P＜0.05,P＜0.01),and CIS was a protective factor(OR=0.439,95％CI:0.294-0.655,P=0.000).Conclusion CIS is closely correlated with the prognosis of patients with MCA M1 segment stenosis after endovascular stent implantation.Early evaluation of CIS can provide certain predictive value for postoperative out-comes of these patients.

Autologous blood donation is an important strategy of blood conservation. The Administrative Measures for the Clinical Use of Blood in Medical Institutions (Order No. 85 of the National Health Commission) requires medical institutions to promote the implementation of autologous blood donation actively. The clinical practice guidelines for patient blood management also recommend the proactive use of autologous blood donation to reduce the reliance on allogeneic blood. Preoperative autologous blood donation (PABD) is one of the autologous blood donation with wide range of indications, easy to operate, and can effectively reduce the transfusion of allogeneic blood. However, the performance of PABD in China is unsatisfactory due to various factors such as the patient composition of medical institutions, the implementation of outpatient department of blood transfusion, the level of attention paid to this issue, and the fact that traditional PABD do not meet clinical requirements. Therefore, improving the PABD model and exploring new PABD technology, as well as promoting their clinical application, are critical measures to meet the development requirements of patient blood management and to alleviate the shortage of blood supply. This article summarizes the improvements in the PABD model, and a novel PABD technology of PABD—preoperative deep apheresis of autologous red blood cells and/or platelets (deep apheresis autologous blood storage technology), and the current situation of clinical application of PABD to provide paradigm for clinical transfusion.

Objective To explore the predictive value of serum microRNA(miR)-150 and microRNA(miR)-155 expression levels in patients with lower limb arteriosclerosis obliterans(ASO)for in-stent restenosis(ISR)after stent implantation.Methods A total of 108 ASO patients who received stent implantation in Deyang People's Hospital form March 2020 to June 2022 were gathered.They were grouped into two groups based on whether they had experienced ISR one year after surgery:the ISR group(n=42)and the non-ISR group(n=66).Real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)was applied to detect the relative expression levels of miR-150 and miR-155 in serum.Pearson correlation was applied to analyze the correlation between serum miR-150,miR-155 levels and low-density lipoprotein cholesterol(LDL-C)and hypersensitive C-reactive protein(hs-CRP).Multivariate logistic regression was applied to analyze the factors influencing the occurrence of ISR in ASO patients.The receiver operating characteristic(ROC)curve was applied to analyze the predictive value of serum miR-150 and miR-155 levels for ISR in ASO patients.Results Compared with non-ISR group,the serum miR-150(0.65±0.16 vs 1.01±0.09)level in ISR group was greatly reduced,while the levels of miR-155(1.68±0.39 vs 1.02±0.11),LDL-C(2.85±0.76 mmol/L vs 2.21±0.62mmol/L)and hs-CRP(2.36±0.47 mg/L vs 1.82±0.36mg/L)were greatly increased,and the differences were statistically significant(t=4.785～14.957,all P<0.05).According to Pearson correlation analysis,serum miR-150 was greatly negatively correlated with LDL-C and hs-CRP levels(r=-0.465,-0.532,all P<0.05),the serum miR-155 level was greatly positively correlated with LDL-C and hs-CRP levels(r=0.453,0.481,all P<0.05).Multivariate Logistic regression analysis showed that serum miR-150 was a protective factor affecting the occurrence of ISR in ASO patients,while serum miR-155,LDL-C and hs-CRP were risk factors affecting the occurrence of ISR in ASO patients(all P<0.05).ROC curve showed that the AUC(95%CI)of serum miR-150,miR-155,and their combined prediction for ISR in ASO patients was 0.869(0.791～0.926),0.874(0.796～0.930)and 0.976(0.926～0.996),respectively,the combined detection was greatly better than the two individual predictions(Z=2.679,2.745,all P<0.05).Conclusion The miR-150 level decreased and the miR-155 level increased in patients with ISR after ASO stent implantation are both factors affecting the occurrence of ISR in ASO patients,and the combination detection of the two has high predictive value.

Thrombocytopenia 2 (THC2) is an autosomal dominant hematologic disorder caused by germline mutations in the ANKRD26 gene, characterized primarily by persistent thrombocytopenia and a predisposition to myeloid neoplasms. Owing to nonspecific clinical presentation and limited disease awareness, THC2 is frequently underdiagnosed or misdiagnosed, potentially leading to inappropriate interventions. This article systematically outlines the clinical manifestations, pathogenesis, and strategies for the precise diagnosis and treatment of THC2, aiming to provide a theoretical basis and practical guidance for its clinical management and for the in-depth investigation of its pathogenesis.

Inherited thrombocytopenia (IT) is a group of rare hereditary platelet disorders characterized by reduced platelet counts and, sometimes accompanied by platelet dysfunction. This review comprehensively summarizes various cell models used in IT research, which are derived from different sources, including patient-derived primary cells (such as megakaryocytes, platelets, and hematopoietic stem and progenitor cells), stem cell lines (encompassing both adult and pluripotent stem cells), and immortalized megakaryocyte cell lines derived from tumor cells. These cell models provide an indispensable research platform for in-depth exploration of the pathogenesis of IT, screening of potential therapeutic drugs, and evaluation of drug efficacy. Additionally, this review delves into the research progress of utilizing gene editing technologies to simulate IT-causing mutations and their pathogenic mechanisms, and summarizes the application prospects and challenges of in vitro cell models in the field of IT research.