The SMPX (small muscle protein X-linked) gene encodes a small-molecular-weight protein that is mainly expressed in skeletal and cardiac muscles and is involved in cytoskeletal dynamics and mechanical stress responses. In recent years, missense variants of the SMPX gene have been identified as the cause of a novel X-linked distal myopathy (Distal myopathy 7). This article has systematically reviewed the molecular functions, variant types, and pathological mechanisms of the SMPX gene by integrating its clinical classification, molecular pathological evidence, and experimental model data, and revealed its pathgenetic mechanism through protein aggregation, dynamic dysregulation of stress granules, abnormal Rac1/p38 signaling pathways, and future research directions.
Humans ; Mutation ; Muscle Proteins/metabolism* ; Deafness/genetics* ; Animals ; Muscular Diseases/genetics* ; Genes, X-Linked

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.

Background: The mechanism of peripheral axon transport in neuropathic pain is still unclear. Chemokine ligand 13 (CXCL13) and its receptor (C-X-C chemokine receptor type 5, CXCR5) as well as GABA transporter 1 (GAT-1) play an important role in the development of pain. The aim of this study was to explore the axonal transport of CXCL13/CXCR5 and GAT-1 with the aid of the analgesic effect of botulinum toxin type A (BTX-A) in rats. Methods: Chronic constriction injury (CCI) rat models were established. BTX-A was administered to rats through subcutaneous injection in the hind paw. The pain behaviors in CCI rats were measured by paw withdrawal threshold and paw withdrawal latencies. The levels of CXCL13/CXCR5 and GAT-1 were measured by western blots. Results: The subcutaneous injection of BTX-A relieved the mechanical allodynia and heat hyperalgesia induced by CCI surgery and reversed the overexpression of CXCL13/CXCR5 and GAT-1 in the spinal cord, dorsal root ganglia (DRG), sciatic nerve, and plantar skin in CCI rats. After 10 mmol/L colchicine blocked the axon transport of sciatic nerve, the inhibitory effect of BTX-A disappeared, and the levels of CXCL13/CXCR5 and GAT-1 in the spinal cord and DRG were reduced in CCI rats. Conclusions BTX-A regulated the levels of CXCL13/CXCR5 and GAT-1 in the spine and DRG through axonal transport. Chemokines (such as CXCL13) may be transported from the injury site to the spine or DRG through axonal transport. Axon molecular transport may be a target to enhance pain management in neuropathic pain.

Objective: To investigate the effectiveness of autologous injectable platelet rich fibrin (i-PRF) combined with bone marrow mesenchymal stem cells (BMSCs) for sciatic nerve injury in rats. Methods: BMSCs were isolated and cultured from tibial bone marrow of Sprague Dawley (SD) neonatal rats aged 10-15 days and passaged to the 4th generation. i-PRF was prepared from posterior orbital venous blood of adult SD rats by improved low-speed centrifugation. Twenty-four adult SD rats were selected and randomly divided into 4 groups with 6 rats in each group after the sciatic nerve Ⅲ degree injury model was established by modified crush injury method. Groups A, B, C, and D were injected with BMSCs suspension+autologous i-PRF, autologous i-PRF, BMSCs suspension, and normal saline, respectively. The Basso-Beattie-Bresnahan (BBB) score was used to evaluate the recovery of neurological function of the affected limb of rats every week from 1 to 8 weeks after operation. At 2 months after operation, the rats were sacrificed and the histological changes of sciatic nerve were observed by HE staining. The microstructural changes of nerve fibers, myelin sheath, and nucleus were observed by transmission electron microscope. The expressions of N-cadherin, Nestin, and glial fibrillary acidic protein (GFAP) were detected by Western blot. Results: No immune rejection or death occurred in the rats after operation. There was no significant difference in BBB scores between groups at 1 week after operation ( P>0.05); at 2-8 weeks after operation, BBB scores in group A were significantly higher than those in groups B, C, and D, and in groups B, C than in group D ( P<0.05), there was no significant difference between groups B and C ( P>0.05). HE staining showed that the nerve fibers in group A arranged in order, without defect or demyelination; the nerve fibers in group B were not clear and slightly swollen; some of the nerve fibers in group C were disordered and demyelinated; the nerve fibers in group D were not continuous, obviously demyelinated, and some of the nerve adventitia damaged. Transmission electron microscope showed that the structure of nerve fibers in group A was clear, myelin sheath was complete, and nucleus was dense; group B was slightly less than group A; group C had fuzzy structure, demyelination, and hollowing out; group D had disorder structure, demyelination, and hollowing out, and the middle part of nerve adventitia continuity. Western blot detection results showed that there was no significant difference in the relative expression of Nestin between groups ( P>0.05). The relative expression of N-cadherin was significantly lower in groups B, C, and D than in group A, in groups C and D than in group B, and in group D than in group C ( P<0.05). The relative expression of GFAP was significantly lower in groups B, C, and D than in group A, in group D than in groups B and C ( P<0.05); there was no significant difference between groups B and C ( P>0.05). Conclusion: Autologous i-PRF combined with BMSCs can effectively treat sciatic nerve tissue injury in rats.

Objective:To analyze the epidemiological and etiological characteristics of a dengue fever outbreak in Hunan province in 2018.Methods:Real-time PCR assay was performed for the laboratory diagnosis of 8 suspected dengue fever cases. Etiological surveillance was performed in 186 suspected dengue fever cases and fever cases who had close contacts with dengue fever patients. C6/36 cells was used for the virus isolation from acute phase serum. By sequencing the full length of E genes of 15 dengue virus strains, phylogenetic analysis was performed based on the sequences obtained, including reference sequences from the NCBI GenBank database, the serotypes and gene subtypes of the virus were analyzed to trace the possible source of transmission. An emergency monitoring of vector density and a retrospective survey of sero-epidemiology in healthy population were conducted in the epidemic area.Results:In the serum samples of 8 suspected patients, 6 were dengue virus RNA positive, and 4 were NS1 antigen positive. In 186 suspected patients, 96 were dengue virus nucleic acid, NS1 antigen or antibody positive in etiological test. A total of 64 dengue virus strains were isolated. The phylogenetic analysis showed that all the dengue virus strains belonged to type 2, which might be from Guangdong or Zhejiang provinces. The Bretub index was up to 65, indicating an extremely high risk of transmission. The positive rate of the dengue virus IgG antibody was 0.53%(2/377) in retrospective survey of 377 healthy people.Conclusion:The field epidemiologic and the molecular genetics analyses showed the outbreak of dengue fever in Hunan in 2018 was caused by imported cases and dengue virus 2.

Objective To explore the research state and topics of lung cancer with chronic obstructive pulmonary disease (COPD) in China using the visualization methods. Methods Literature about lung cancer with COPD was searched through WanFang, CNKI, CBM, PubMed, The Cochrane Library and EMbase databases from inception to March 2018 by computer. We used BICOMS software to analyze the main information and produce co-word matrix, gCLUTO software to cluster, and NetDraw and Cytoscape software to draw the pictures. Results There were 304 studies related to lung cancer with COPD which originated from 173 journals including 23 indexed by Chinese Science Citation Database (CSCD) with 42 articles published, accounting for 13.8% of the total number of studies. There were 37 articles from 24 journals indexed by Science Citation Index (SCI) accounting for 12.2% of the total number of studies. The studies grew rapidly since 2012. The study involved 32 provinces, municipalities, and autonomous regions, among which Beijing, Sichuan, Shanghai, Guangzhou and Jiangsu provinces and cities were the main research areas. Sixty-nine high-frequency keywords were obtained with frequency 2 as the threshold, which was clustered into 5 categories by dual cluster analysis. Among them, topic 0 showed pathogenesis and radiological diagnosis of lung cancer with COPD, topic 1 was about the clinical characteristics of different pathological types of lung cancer with COPD and Chinese medicine treatment, topic 2 aimed at the impact of risk factors on surgical complications and the relationship between chemotherapy or targeted therapies and patient survival prognosis, topic 3 involved the pigenetic correlation between lung cancer and COPD and topic 4 was about clinical studies of perioperative comprehensive management of lung cancer patients with COPD. Conclusion The bibliometrics results show that there are considerable-amount achievements on lung cancer combined with COPD in China, and the researches have gradually increased since 2012. Horizontal research topics are extensive, and the focus of the study is to explore the perioperative comprehensive management and basic research of lung cancer with COPD, but the longitudinal themes need to be further studied. The results of some studies have not yet reached a consensus. There are few high-quality multi-center studies and a lack of clinical-directed achievement.

Objective: To investigate the methylation status and expression of FOXP3 in CD4+ T cells of patients with chronic hepatitis B (CHB). Methods: Peripheral blood mononuclear cells (PBMCs) from 59 CHB patients and 22 healthy controls (HC) were collected. The percentage of CD4+ CD25+ Foxp3+ Tregs in CD4+ T cells was estimated by flow cytometry. FOXP3 expression was measured by quantitative real time-polymerase chain reaction (RT-qPCR) and Western blotting. The methylation status of FOXP3 was determined by methylation-specific polymerase chain reaction. Results: The percentage of CD4+ CD25+ pFoxp3+ Tregs in CD4+ T cells, FOXP3 mRNA and protein expression levels were significantly higher in patients with CHB than HCs (P<0.05). Meanwhile, the methylation frequency of FOXP3 was significantly lower in CHB patients than HCs (P<0.05). FOXP3 mRNA levels and the percentage of CD4+ CD25+ Foxp3+ Tregs were significantly lower (P<0.05) in patients with gene methylation than those without. Conclusions Aberrant demethylation of FOXP3 gene existed in CD4+ T cells of CHB, which contributed to an elevation in FOXP3 expression and percentage of CD4+ CD25+ Foxp3+ Tregs. It might provide a new target for prevention and treatment of CHB.

Objective To study the effects of mechanical load on in vivo degradation performance of high-purity magnesium (HP Mg, 99.99 wt.%) quantitatively. Methods Cylindrical Mg specimens, with a 2 mm diameter and a 14 mm length, were mounted in polyetheretherketone (PEEK) rings to bear compressive stresses ［（6.2±0.6） MPa］, tensile stresses ［（4.6±0.1） MPa］ or no stress (as control). The specimens under different stress states were implanted subcutaneously in dorsal abdominal regions of SD rats for 4 weeks. The mass loss, residual volume and surface morphology of the specimens and staining of surrounding soft tissues were used to analyze the degradation rate of HP Mg. Results Specimens and rings were completely encapsulated by membranous tissues after implantation for 4 weeks. No significant differences in the degradation rates were noted between specimens bearing stress and the control. The corrosion layers of specimens under each stress state were uniform. Conclusions The compressive and tensile stresses (4-6 MPa) could not affect significantly HP Mg degradation performance in vivo. The research findings provide theoretical references for the design and clinical application of Mg-based degradable implants.

Objective To investigate effects of interleukin-35 (IL-35) on proliferation,invasion and migration of a HepG2 cell line in vitro.Methods Enzyme-linked immunosorbent assay (ELISA) was used to determine peripheral blood expression levels of IL-35 in hepatocellular carcinoma patients and in normal healthy subjects.The effects of exogenous IL-35 on cell proliferation activity of HepG2 in vitro were measured using CCK-8 assay.The transwell invasion and scratch test were used to study the invasive and migration abilities.Results The content of IL-35 protein in hepatocellular carcinoma patients (HCC) was significantly higher than in healthy individuals [(118.45 ±28.66) ng/L vs (39.56 ± 11.15) ng/L,P ＜0.05].Exogenous IL-35 significantly promoted proliferation,invasion and migration abilities of HepG2 cells in vitro (P ＜ 0.05).Conclusions The level of IL-35 was elevated significantly in hepatocellular carcinoma patients.IL-35 had biological characteristics of promoting HCC cell proliferation,invasion and migration.