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.

Mesenchymal stem cells have emerged as a promising cell therapy for anti-tumor research due to their homing properties,low immunogenicity,anti-angiogenic activity,anti-inflammatory properties,and paracrine effects.Paclitaxel has been clinically used for over thirty years in the treatment of various tumors such as ovarian cancer,lung cancer,and breast cancer.However,the broad-spectrum anti-tumor properties of paclitaxel are not possessed by the aforementioned cell therapies.Moreover,its adverse reactions,including peripheral neuropathy,bone marrow suppression,and gastrointestinal reactions,have long plagued cancer patients.In recent years,many studies have focused on combining cell therapy with chemotherapy to achieve better treatment outcomes,giving rise to a new drug delivery system that utilizes mesenchymal stem cells as carriers for delivering chemotherapeutic drugs.This review summarizes the research progress in MSC-based drug delivery systems for paclitaxel.

Objective To analyze medication patterns and the targets and pathways of core drug combinations in treatment of palpitation.Methods The prescriptions of Li Yaping for treatment of palpitation from March 2023 to March 2024 were collected,and frequency counts of drugs'nature and flavour,channel tropism,and efficacy were performed.Apriori algorithm,association rules,and clustering analysis were carried out using SPSS Modeler 18.0 and SPSS 26.0.The core drugs and disease targets were searched,and gene ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis were performed on the targets of their therapeutic action for palpitation.Results A total of 220 prescriptions were collected,involving 192 flavors of traditional Chinese medicines,with a cumulative medication frequency of 3978 times,and 18 flavors of high-frequency medicines.The medicines were mainly tonics,sedative,and promoting blood circulation for removing blood stasis.The distribution of medicinal properties were mainly warm,cold and flat.The medicinal flavors were mainly sweet,bitter and pungent,and channel tropism were mostly heart,liver and spleen channel.Association rule analysis showed that Radix Angelicae Sinensis,Radix et Rhizoma Salviae Miltiorrhizae,Radix et Rhizoma Glycyrrhizae,Radix Ophiopogonis,and Radix Astragali were the core drugs.Cluster analysis showed that there was 3 cluster combinations.In the network pharmacology part,there were 181 targets intersected by drug combinations and diseases.KEGG analysis showed that the core drugs for palpitation mainly involved signaling pathways such as phosphoinositide 3-kinase/protein kinase B,hypoxia-inducible factor-1,mitogen-activated protein kinase,interleukin-17,etc.GO analysis obtained 1000 GO pathways,of which 760 were biological processes,93 were cellular components,and 147 were molecular functions.Conclusion In the treatment of palpitation,Li Yaping advocates benefiting qi and promoting yang,removing blood stasis and eliminating turbidity,and tranquilizing the mind,emphasizing the"two hearts in the same adjustment",and treating the heart and liver at the same time,taking into account the spleen and stomach,and the combination of core medicines can intervene in the course of palpitation through multi-components,multi-targets,and multi-pathways,which is of great significance for the treatment of palpitation in the clinical setting.

Objective:To evaluate the clinical efficacy of modified all-arthroscopic reconstruction of medial patella femoral ligament (MPFL) for the treatment of recurrent patellar dislocation.Methods:A retrospective case series study was conducted to analyze the clinical data of 38 patients (46 knees) with recurrent patellar dislocation, who were treated at First Affiliated Hospital of Shenzhen University from January 2017 to January 2020. The patients included 12 males (12 knees) and 26 females (34 knees), aged 14-40 years [(24.6±5.4)years]. All patients underwent the modified all-arthroscopic MPFL reconstruction procedure. The femoral tunnel locations were assessed by 3D-CT immediately after surgery. The MRI was performed at 6 and 12 months after operation to assess the healing morphology of the reconstructed MPFL. The Lysholm score and Kujala score were used to assess the knee function before operation, at 6 months after operation, at 12 months after operation and at the last follow-up. The time to return to sports as well as complications were observed.Results:All patients were followed up for 26-48 months [(32.4±8.6)months]. Postoperative 3D-CT examination showed that the femoral tunnels were located in the groove area of the medial epicondyle of the femur and the adductor tubercle. At 6 and 12 months after operation, MRI T2 images showed that the reconstructed MPFL had a low signal and well tensioned ligament tissue, indicating that the MPFL was healed well. The Lysholm scores at 6 and 12 months postoperatively and at the last follow-up were (81.1±12.0)points, (91.2±3.8)points, and (92.2±9.8)points, respectively, being significantly higher than the preoperative (52.4±10.6)points (all P<0.01). The Kujala scores at 6 and 12 months postoperatively and at the last follow-up were (85.4±3.9)points, (91.4±3.6)points, and (93.1±8.5)points, respectively, being significantly higher than the preoperative (55.2±6.8)points (all P<0.01). Compared with 6 months postoperatively, the Lysholm score and Kujala score were significantly improved at 12 months postoperatively and at the last follow-up (all P<0.05). All patients returned to sports, with the time to return to sports for 3-12 months [(8.7±2.3)months] after operation. One patient had poor wound healing but was healed after dressing changes. No wound infection, nerve injury, joint stiffness, patella re-dislocation or other complications occurred. Conclusion:For recurrent patellar dislocation, the modified all-arthroscopic MPFL reconstruction has advantages of accurate bone tunnel positioning, good ligament healing, good function recovery, early return to sports, and less postoperative complications.

Objective:To analyze the risk factors that affect the prognosis of patients with hypopharyngeal squamous cell carcinoma（HPSCC） and to compare the efficacy of surgical resection followed by adjuvant radiotherapy（SR） with that of neoadjuvant therapy consisting of platinum-based chemotherapy and fluorouracil combined with either cetuximab or nimotuzumab, followed by SR. The study also aimed to evaluate the overall survival（OS） of patients, their postoperative eating function, tracheostomy decannulation rate, and tumor response to the two neoadjuvant chemotherapies. Methods:A retrospective analysis was performed on the medical records of HPSCC patients who received SR or neoadjuvant therapy followed by SR treatment at the Shanghai General Hospital from 2012 to 2019 and had not undergone any prior treatment. The prognostic factors were analyzed, and the survival analysis of patients who underwent SR treatment with two neoadjuvant chemotherapy regimens was performed. Results:A total of 108 patients were included in the study. The results of the univariate analysis showed that gender（P=0.850） had no significant correlation with the survival rate of HPSCC patients who underwent SR. However, age, smoking history, alcohol consumption history, platelet-to-lymphocyte ratio（PLR）, neutrophil-to-lymphocyte ratio（NLR）, T stage, N stage, neoadjuvant therapy with either cetuximab or nimotuzumab combined with platinum-based chemotherapy and fluorouracil, and histological grade were significantly associated with prognosis（P<0.05）. The multivariate analysis revealed that smoking history, histological grade, and neoadjuvant therapy with either cetuximab or nimotuzumab combined with platinum-based chemotherapy and fluorouracil were independent risk factors affecting the prognosis of HPSCC（P<0.05）. Patients who received neoadjuvant therapy had longer OS than those who underwent SR only（P<0.001）. There was no significant difference in tumor response to the two neoadjuvant therapies and in OS（P>0.05）, and there was no significant difference in the rate of oral feeding and tracheostomy decannulation among the three treatment groups（P>0.05）. Conclusion:Univariate analysis showed that age at tumor onset, smoking history, alcohol consumption history, NLR, PLR, T stage, N stage, whether receiving neoadjuvant chemotherapy, and pathological grade were associated with the prognosis of HPSCC patients receiving SR treatment. Multivariate analysis showed that smoking history, pathological grade, and neoadjuvant chemotherapy were independent risk factors affecting the prognosis. Neoadjuvant chemotherapy with cetuximab or nimotuzumab can prolong the OS of patients, providing a certain basis and reference for the treatment of HPSCC.
Humans ; Neoadjuvant Therapy ; Squamous Cell Carcinoma of Head and Neck ; Cetuximab/therapeutic use* ; Retrospective Studies ; China ; Prognosis ; Fluorouracil ; Head and Neck Neoplasms

Objective Meta-analysis was used to evaluate the effect of the solution-focused brief therapy on im-proving the anxiety and depression status of patients with HIV/AIDS.Methods Computer search of PubMed,Embase,Web of Science,Cochrane Library,CINAHL,PsycINFO,Chinese Biomedical Literature Database,China Na-tional Knowledge Infrastructure,Wanfang Database,CQVIP were conducted,and the search time frame was from the establishment of databases until April 9,2023.There were 2 investigators who independently screened the literature according to inclusion and exclusion criteria,extracted data and performed quality evaluation,and performed Meta-analysis using RevMan 5.4 software.Results A total of 11 publications were included,including 9 randomized controlled trials and 2 quasi-experimental studies,with a total of 1 219 patients with HIV/AIDS.Meta-analysis re-sults showed that solution-focused brief therapy reduced anxiety scores(SMD=-1.89;95%CI:-2.79～-0.99,P＜0.001),depression scores(SMD=-2.45;95%CI:-3.51～-1.39,P＜0.001).Subgroup analysis showed that improved anxiety(SMD=-4.16;95%CI:-7.97～-0.35,P＜0.001),depression(SMD=-5.69;95%CI:-11.20～-0.19,P＜0.001)in pregnant HIV/AIDS patients was significantly better than that in ordinary patients.Conclusion Solution-focused brief therapy is effective in improving anxiety and depression levels in patients with HIV/AIDS,and the application of this model in pregnant patients with HIV/AIDS has a more significant improvement effect,but high-quality,multicenter,large-sample clinical trial studies are needed to further confirm this conclusion in the future.

Objective:To evaluate the effect of five external treatment methods of traditional Chinese medicine on the pain of patients with lumbar disc herniation (LDH) through a network Meta-analysis.Methods:The published article on the effect of external treatment methods of Traditional Chinese Medicine in patients with LDH was retrieved by computer in China National Knowledge Infrastructure, WanFang Database, VIP, China Biomedical Database, PubMed, Cochrane Library and Web of Science. The retrieval time limit was from the establishment of the database to May 31, 2022. Two researchers independently screened the article according to the inclusion and exclusion criteria, extracted the information and evaluated the quality. Review Manger 5.4 software was used to draw the bias risk map and Stata SE 16.0 software was used to conduct the network Meta-analysis.Results:A total of 1 133 patients were included in 12 articles, and there were five kinds of external treatment methods of Traditional Chinese Medicine. The results of network Meta-analysis showed that except for acupoint application, scraping, Traditional Chinese Medicine iontophoresis, Traditional Chinese Medicine scalding, auricular point sticking had statistically significant differences in the effect of pain compared with conventional treatment and nursing ( P<0.05). There were no statistically significant differences between the five external treatment methods of Traditional Chinese Medicine ( P>0.05). The cumulative ranking plot showed that scraping was the best intervention method for pain in LDH patients, with a surface under the cumulative ranking ( SUCRA) value of 80.3%. Conclusions:Scraping is the best external treatment of traditional Chinese medicine to relieve the pain of LDH patients, but it still needs to be further demonstrated by a large number of high-quality randomized controlled trials.

Objective:To explore the potential biomarkers and pathogenesis of diabetic kidney disease (DKD) using bioinformatics techniques.Methods:Three DKD glomerular tissue datasets, GSE30528, GSE96804, and GSE104948, were downloaded from the gene expression database. The bioinformatics techniques, combined with machine learning, were applied to screen DKD biomarkers and establish a DKD gene diagnostic model. The CIBERSORT algorithm was applied to analyze immune cell infiltration in DKD glomerular tissue. The correlation between biomarkers and immune cells, model risk scores, and the glomerular filtration rate (eGFR) of patients was investigated.Results:A three-gene model consisting of G6PC, CDH10 and TPPP3 was screened and established from 26 differentially expressed genes, which showed good diagnostic efficacy in both the training set (AUC=0.984) and validation set (AUC=0.992). Analysis of infiltrating immune cells in DKD glomerular tissue showed that γδ T cells, activated NK cells, M2 macrophages, resting dendritic cells, resting mast cells, activated mast cells, and neutrophils may be involved in the DKD process, and that G6PC, CDH10 and TPPP3 were associated with multiple immune cell infiltrations. Using the model to calculate the risk score of DKD patients, the higher the score, the lower the eGFR level, and the risk score was significantly negatively correlated with the eGFR level. Conclusions:G6PC, CDH10 and TPPP3 can be good diagnostic markers for DKD, correlate with DKD immune cell infiltration, and be used as targets for DKD diagnosis and treatment.

Skeletal muscle dysfunction is a common extrapulmonary disease in patients with chronic obstructive pulmonary disease (COPD) , and about 92% of COPD patients have skeletal muscle dysfunction. In order to effectively deal with and control the skeletal muscle dysfunction in COPD patients, it is particularly important to choose a scientific and effective evaluation method to accurately and reliably assess the skeletal muscle function. This article reviews the common evaluation methods of skeletal muscle function in COPD patients from the aspects of muscle strength, muscle mass, muscle endurance, and exercise ability, and discusses the application status, advantages and disadvantages of different evaluation methods, so as to provide references for follow-up research and targeted intervention.

Objective To explore the influence of rs1360780 T risk allele of FK506-binding protein 5 (FKBP5) gene on the brain function under resting-state and its association with clinical symptoms as well as immune function in patients with major depressive disorder (MDD).Methods Totally 147 MDD patients and 61 gender-,age-,and education-matched healthy controls were scanned with 3.0T MRI Scanner and genotyped.The peripheral serum immunoglobulin and complement were measured.The main effect of the disease,the genotype and their interaction effects were analyzed using regional homogeneity (ReHo) by two-way ANOVA.Abnormal brain activity was identified in T risk allele carriers of rs1360780 and non-risk CC individuals in MDD using post hoc analyses.Correlation analyses were performed between ReHo values of significant brain regions and the total score,five-factor scores of Hamilton rating scale for depression (HAMD-17),serum levels of immunoglobulin and plasma complement component in MDD patients.Results (1) The results of 2x 2 ANOVA showed the interaction effects located in the left opercular part of inferior frontal gyrus (MNI:x,y,z =-42,6,9;F=10.83),right opercular part of inferior frontal gyrus (MNI:x,y,z =30,6,33;F=15.05),left medial superior frontal gyrus (MNI:x,y,z=-9,54,0;F=9.17) and left pallidum (MNI:x,y,z =-12,6,-6;F=11.37) (Alphasim corrected,P＜ 0.05).(2) In post-hoc analyses for the main effect of genotype,T+ carriers with MDD showed increased ReHo values in the right opercular part of inferior frontal gyrus (MNI:x,y,z=60,12,6;t=2.88) compared with CC carriers;for the effect of diseaseby-genotype interaction,T+ carriers with MDD showed increased ReHo values in the right opercular part of inferior frontal gyrus (MNI:x,y,z=30,6,33;t=2.96) and decreased ReHo values in the left orbital part of inferior frontal gyrus (MNI:x,y,z =-21,9,-18;t =-3.21) (Alphasim corrected,P＜ 0.05) in contrast to CC carriers.(3)Pearson's correlation showed that the average ReHo values of the right opercular part of inferior frontal gyrus negatively correlated with the content of immunoglobulin G (r=-0.528,P=O.0016,Bonferroni corrected) and positively correlated with anxiety/somatization factor score (r=0.421,P＜0.001,Bonferroni corrected) in T + carrìers with MDD.Conclusion The results of this study suggest that rs1360780 T-risk allele of FKBP5 gene is involved in the changes of local neural activity in the right opercular part of inferior frontal gyrus of depressed patients and could potentially indicate a neuropathological mechanism of anxiety somatic symptoms and immune dysfunction in depression.