ObjectiveTo review the research progress on etiology and pathogenesis of spina bifida. MethodsBy consulting relevant domestic and foreign research literature on spina bifida, the classification, epidemic trend, pathogenesis, etiology, prevention and treatment of it were analyzed and summarized. ResultsSpina bifida, a common phenotype of neural tube defects, is classified based on the degree and pattern of malformation associated with neuroectodermal involvement and is due to the disturbance of neural tube closure 28 days before embryonic development. The prevalence of spina bifida varies greatly among different ethnic groups and regions, and its etiology is complex. Currently, some spina bifida patients can be prevented by folic acid supplements, and with the improvement of treatment technology, the short-term and long-term survival rate of children with spina bifida has improved. ConclusionThe research on the pathogenesis of spina bifida will be based on the refined individual information on exposure, genetics, and complex phenotype, and will provide a theoretical basis for improving prevention and treatment strategies through multidisciplinary cooperation.
ObjectiveTo understand the pathogenesis and the research progress of comprehensive treatment of primary retroperitoneal liposarcoma (PRLPS) and to provide evidence for clinical diagnosis and treatment.MethodThe recent literatures on the pathological classification, pathogenesis of PRLPS, and comprehensive treatment including the surgery, radiotherapy, chemotherapy, and molecular targeted therapy were reviewed.ResultsThe pathological types of PRLPS were highly differentiated, dedifferentiated, mucoid/round cell, polymorphic, and mixed. The main molecular pathogenesis was the synergistic effect of MDM2 with related genes, abnormal expressions of c-myc gene and microRNAs, Prune-nm23-H1 mechanism, and abnormal protein products of FUS-CHOP fusion gene which regulated the growth of tumor. The treatment of PRLRS included the radical resection, extended resection, and palliative resection combined with radiotherapy, chemotherapy, and molecular targeted therapy.ConclusionsPRLPS is a rare malignant tumor with high recurrence rate, but early diagnosis and treatment are difficult. With the further study of the molecular mechanism of PRLPS, the treatment of PRLPS has been transformed into a comprehensive treatment based on surgery, adjuvant radiotherapy and chemotherapy, and molecular targeted therapy.
Objective To understand pathogenesis, clinical manifestations, diagnosis, treatment, and prognosis of metaplastic breast cancer (MBC), and to provide some new ideas for clinical diagnosis and treatment, and exploration of scientific research for it. Method The relevant literatures of the latest research on MBC were reviewed and analyzed. Results At present, the pathogenesis of the MBC was still uncertain. The incidence of the MBC was lower, and it’s clinical manifestations were not specific. Compared with the invasive breast cancer, the tumor diameter was larger, the growth was faster, the differentiation degree was lower, the risks of the local and distant metastases were higher, while the lymph node metastasis was rare. Because of the clinical manifestation, auxiliary examination, and imaging examinations were lack of specificity, the diagnosis was difficult. Although the preoperative puncture could provide a reliable diagnosis evidence, it was difficult for distinguishing and accurate diagnosis due to it’s more subtypings. Some of the specific molecular targets could provide a help for it. At present, the modified radical mastectomy was often performed, the axillary lymph node metastasis was relatively rare in the MBC, so the sentinel lymph node biopsy was more important in the treatment of the MBC. The therapeutic effect was limited by the endocrine therapy, targeted therapy, or neoadjuvant chemotherapy and was poor by the systemic chemotherapy. Although the radiotherapy and chemotherapy could improve the overall survival and prolong the disease-free survival and control the local recurrence, the difference of it’s therapeutic effect was great due to the complex MBC typing. Conclusions MBC is a highly malignant and strongly invasive tumor, and it has more subtypings. Clinical manifestation and preoperative examination are lack of specificity, hence it is easy for misdiagnosis or missed diagnosis. Unified treatment guideline is lack of, prognosis is poor. So, it needs to explore some new treatment methods and formulate standardized treatment guidelines in order to achieve a better therapeutic effect.
Knee osteoarthritis (KOA) is one of the common degenerative joint diseases, which is more common in the middle-aged and elderly population. It shows significant gender differences, with a significantly higher incidence rate in women than in men, seriously affecting the quality of life of patients. However, there are few research reports on the correlation between gender differences and the incidence of KOA both domestically and internationally. Therefore, this article will summarize and analyze the potential causes of gender differences related to the incidence of KOA from five aspects: hormone levels, anatomical biomechanical characteristics, genes, obesity, and exercise-muscle factors. Through a comprehensive review of research progress, the aim is to provide a theoretical basis for gender based personalized treatment of KOA in clinical practice.
ObjectiveTo review the research progress of pathogenesis and genetics of alcohol-induced osteonecrosis of the femoral head (AIONFH). MethodsThe relevant domestic and foreign literature in recent years was extensively reviewed. The pathogenesis, the relationship between gene polymorphism and susceptibility, the related factors of disease progression, and the potential therapeutic targets of AIONFH were summarized. ResultsAIONFH is a refractory orthopedic disease caused by excessive drinking, seriously affecting the daily life of patients due to its high disability rate. The pathogenesis of AIONFH includes lipid metabolism disorder, endothelial dysfunction, bone homeostasis imbalance, and et al. Gene polymorphism and non-coding RNA are also involved. The hematological and molecular changes involved in AIONFH may be used as early diagnostic markers and potential therapeutic targets of the disease. ConclusionThe pathogenesis of AIONFH has not been fully elucidated. Research based on genetics, including gene polymorphism and non-coding RNA, combined with next-generation sequencing technology, may provide directions for future research on the mechanism and discovery of potential therapeutic targets.
Objective To discuss the treatment of retinal detachment(RD) after posterior chamber intraocular lents(PCIOL) implantation. Methods Twenty eyes with RD after PCIOL inplantation which were treated with vitrectomy combined with scleral buckling and intraocular tamponade from March 1993 to June 1997 in this institute were analysed retrospctively. Results The retinas reattached completely in 16 eyes and partly in 2 eyes after RD operation.The postoperative visual acuity improved in 17 eyes,not improved in 2 eyes,and decreasde in 1 eyes.The PCIOL was taken off during RD operative in 6 eyes.Postoperative complications including displacement of the PCIOL in 2 eyes,hyphema and vitreous hemorrhage were found in this series of RD operation in 1 eyes. Conclusion Vitrectomy combined with scleral buckling and intraocular tamponade is one of the effective methods to treat the eyes with RD with PCIOL. (Chin J Ocul Fundus Dis,1998,14:165-166)
Cancer is a heterogeneous disease characterized by maladjustment of cell death. The types of cell death were mainly divided into two forms including accidental cell death and regulated cell death (RCD). In recent years, researchers have discovered dozens of RCD modes, among which apoptosis, pyroptosis, necroptosis, and ferroptosis are the most widely studied. Cuproptosis is a new cell death mechanism that first proposed on 17 March 2022. It is recognized as a unique and both copper and mitochondria dependent RCD. The research and development of targeted drugs for regulating different cell death pathways will be hots and difficulties in the treatment of refractory cancer in the future.
ObjectiveTo review and summarize the role of helper T cell (Th) in the pathogenesis of osteoarthritis (OA) and research progress of Th cell-related treatment for OA.MethodsThe domestic and foreign literature in recent years was reviewed. The role of Th cells [Th1, Th2, Th9, Th17, Th22, and follicular helper T cell (Tfh)] and related cytokines in the pathogenesis of OA and the latest research progress of treatment were summarized.ResultsTh cells play an important role in the pathogenesis of OA. Th1, Th9, and Th17 cells are more important than Th2, Th22, and Tfh cells in the pathogenesis of OA. Cytokines such as tumor necrosis factor α and interleukin 17 can cause damage to articular cartilage significantly.ConclusionAt present, the role of Th cells in the pathogenesis of OA has been played in the spotlight. The specific mechanism has not been clear. Regulating the Th cell-associated cytokines, intracellular and extracellular signals, and cellular metabolism is a potential method for prevention and treatment of OA.
Rheumatoid arthritis (RA) is a common systemic autoimmune disease with complicated pathogenesis. Symmetric pain and swelling in multiple joints are the primary clinical symptoms. The early diagnosis and treatment significantly contribute to the better prognosis of RA patients. However, there are still a lot of obstacles in the way of diagnosing and treating RA, and innovative models are urgently needed. As an innovative cross-research model, the applications of the combination of medicine and engineering in the biomedical field present a good prospect, which is expected to improve the demands and defects of traditional RA diagnosis and treatment. Herein, this article reviewed the research progress of the new technologies’ applications in RA diagnosis and treatment in recent years, in order to broaden the new strategies of RA precision diagnosis and treatment.
Objective To analyze the echocardiographic characteristics of above grade 3+ mitral regurgitation (MR) patients by 3D transesophageal echocardiography (3D-TEE) in transcatheter edge-to-edge repair (TEER) and compare the intervention rate of TEER treatment in patients with different risk stratification. Methods We retrospectively analyzed the clinical data of 91 patients with above grade 3+ MR in Anzhen Hospital between June 2021 and April 2022. There were 45 males and 46 females aged 66.5±15.9 years. According to pathogenesis, the patients were divided into different anatomical groups and risk stratification groups. There were 34 patients in a simple degenerative group (simple DMR group), 28 patietns in a complex disease group (Complex group), 14 patients in a simple ventricular functional reflux group (simple VFMR group), 9 patients in a simple atrial functional reflux group (simple AFMR group), and 6 patients in a mixed functional reflux group (mixed FMR group). All patients were examined with a unified standard of transthoracic echocardiography (TTE) and 3D-TEE to compare the characteristic three-dimensional structural changes of the mitral valve in each group. According to the three partition strategy of preoperative anatomical evaluation of TEER, the risk stratification was conducted for the enrolled patients, which was divided into three regions from light to heavy: green area, yellow area, and red area. TEER treatment intervention rate of patients with different risk stratification was calculated. Results Ant leaf angle and post leaf angle were negative in the simple DMR and Complex groups, and non-planar angle, prolapse height and prolapse volume were higher than those of the other groups (P=0.000). Ant leaf angle and post leaf angle were positive in the VFMR group and the mixed FMR group. Anterior and posterior (AP) diameter of valve ring (P=0.036), tenting height and tenting volume were higher than those of other groups (P=0.000). AP diameter, tenting height and tenting volume were changed mildly in patients with simple AFMR. MR patients in red and yellow zone achieved a 28.1% TEER intervention rate.Conclusion Standardized TTE and TEE examinations are crucial for the qualitative and quantitative diagnosis of MR in the echo core-lab. 3D-TEE mitral valve parameter can help determine the exact pathogenesis of MR and to improve the interventional rate of challenging MR patients.