Over the past two decades, genome-wide association study(GWAS) has identified numerous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study(TWAS) offers a novel perspective by linkinggenetic phenotypes to gene expression levels. By integrating TWAS with other multi-omics analyses, researchers can gain a deeper understanding of heritable diseases. This article provides an overview of recent groundbreaking and representative TWAS methods and tools, analyzes their strengths and limitations, and discusses future trends in TWAS development.

ObjectiveTo investigate the recurrence of ischemic stroke (IS) and to analyze the association between four indices of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) and the risk of IS recurrence by analyzing the follow-up data related to IS in the community-based natural population of Songjiang District, Shanghai, so as to provide a scientific basis for improving the prognosis of stroke patients in the community and controlling IS recurrence. MethodsA prospective follow-up study was conducted among the IS patients in the community-based cohort population, collecting data about patient’s age, gender, disease history, biochemical indicators, and etc. Cox regression model and restricted cubic spline model were used to analyze the relationship between different levels of plasma lipids and the recurrence of IS in these patients. ResultsA total of 1 368 patients with IS were included. The total follow-up duration was 7 171.46 person-years, with a median follow-up time of 6.24 years. There were 420 cases of IS recurrence, resulting in a cumulative recurrence rate of 30.70%. The results of multivariate Cox regression analysis showed that the recurrence risk of IS was reduced when the baseline TC and LDL-C levels of IS patients were in the ranges of 4.65‒5.67 mmol·L^-1 and 2.52‒3.46 mmol·L^-1, respectively. The results of restricted cubic spline analysis showed a U-shaped relationship between baseline TC and LDL-C levels and the recurrence risk in IS patients. ConclusionThe cumulative recurrence rate of patients with IS in the community of Songjiang District in Shanghai is high, and the levels of TC and LDL-C at baseline survey are correlated with the recurrence of IS in these patients. It is suggested to pay more attention to the levels of LDL-C and TC in patients with IS, so as to improve the prognosis.

OBJECTIVE: To explore the pain-location interaction between pressure-sensitive points on the body surface and traditional acupoints in patients with chronic non-specific low back pain (CNLBP) under different disease courses, using Euclidean distance and multivariate statistical analysis. METHODS: A pressure-sensitive point detection was performed on 30 CNLBP patients with varying disease courses. A constant pressure was applied using an FDK20 algometer within a designated lumbar area, a total of 50 points were tested, and the tested points were numbered; the visual analogue scale (VAS) pain score was recorded simultaneously. MatlabR2022a9.12. software was used to extract the positions of pressure-sensitive points, and preprocessing and normalization of point location and VAS scores data were conducted. Under constraint conditions (VAS≥8.0 ∩ Euclidean distance to acupoint≤0.5), the proportion of pressure-sensitive points within the Euclidean distance threshold to each acupoint (PVD_acupoint) was calculated, followed by multivariate statistical analysis. RESULTS: ①Constrained analysis of PVD_acupoint showed that PVD_{Qihaishu (BL24)} and PVD_{Dachangshu (BL25)} were positively correlated with disease course (r=0.55, P<0.01). ②Factor analysis and silhouette analysis revealed that PVD_{Shenshu (BL23)} and PVD_{Dachangshu (BL25)} exhibited trends consistent with disease course progression (P>0.05), with different degree (P<0.01). CONCLUSION The PVD_acupoint value based on Euclidean distance can characterize the pressure sensitivity features of traditional acupoints associated with disease. Multivariate statistical analysis of PVD_acupoint confirms that selecting the acupoint combination of Shenshu (BL23) and Dachangshu (BL25) for CNLBP is associated with the distribution of surrounding pressure-sensitive points and the pathological characteristics of the condition.
Humans ; Acupuncture Points ; Low Back Pain/physiopathology* ; Male ; Female ; Middle Aged ; Adult ; Aged ; Acupuncture Therapy ; Young Adult ; Pressure

Objective To investigate the impact of osteotomy mode on the callus morphology in the ex-tension area of tibial bone transfer and its efficacy.Methods The information of the patients with bone defect treated in 910 Hospital of Joint Logistics and Security Force of Chinese People's Liberation Army from May 2016 to June 2022 was collected.By comparing the general data of the patients with different osteotomy meth-ods(minimally invasive osteotomy group,subperiosteal osteotomy group and extraperiosteal osteotomy group),callus morphology in the extension area(sunken type,uniform type and protruding type),healing in-dex,Ilizarov Method Research and Application Society(ASAMI)bone healing and functional evaluation and other information,the curative effect differences of different osteotomy methods on tibial bone transfer were investigated.Results The incidence rate of sunken type of callus in the extension area was 15.8%in the mini-mally invasive osteotomy group,18.9%in the subperiosteal osteotomy group,and 14.3%in the extraperioste-al osteotomy group,with statistically significant differences among the three groups(P<0.05);in which,the incidence of sunken type of callus in the minimally invasive osteotomy group was lower than that in the subpe-riosteal osteotomy group(χ2=10.178,P=0.005),but there was no statistically significant difference when compared to the extraperiosteal osteotomy group(χ2=0.102,P=0.814),the difference betrrween the extra-periosteal osteotomy group and subperiosteal osteotomy group also had no statistical difference(χ2=0.084,P=0.772).The incidence rate of uniform type of callus in the minimally invasive osteotomy group was lower than that in the subperiosteal osteotomy group(χ2=6.579,P=0.013),but there was no statistically signifi-cant difference when compared to the extraperiosteal osteotomy group(χ2=0.443,P=0.506).The difference in the subperiosteal osteotomy group and extraperiosteal osteotomy group also had no statistically significant(χ2=2.602,P=0.107).The incidence rate of protruding type of callus in the minimally invasive osteotomy group was higher than that in the subperiosteal osteotomy group(χ2=9.795,P=0.002),and the incidence rate of protruding type of callus in the extraperiosteal osteotomy group was higher than that in the subperios-teal osteotomy group(χ2=5.170,P=0.023),however,there was no statistically significant difference be-tween the minimally invasive osteotomy group and the extraperiosteal osteotomy group(χ2=0.308,P=0.579).There were no statistically significant differences in healing index,ASAMI scores,contact point non-union,pin tract infection and refracture incidence rate rates among the three groups(P>0.05).Conclusion Sub-periosteal osteotomy in the single plane tibial bone moving does not show the expected results in favor of the extension area mineralization,on the contrary,extraperiosteal osteotomy has the similar clinical efficacy to minimally invasive osteotomy.

The key to the growth and metastasis of pancreatic ductal adenocarcinoma(PDAC)is its complex stromal microenvironment and significant cellular and spatial heterogeneity.It can utilize the interac-tion between cellular and non cellular components in the microenvironment to induce immune escape and drug resistance,thereby reducing patient survival rates.In recent years,relevant studies have revealed the presence of non cellular components in the tumor microenvironment-matrix metalloproteinases(MMP),which can par-ticipate in inflammatory responses and cancer development by hydrolyzing the extracellular matrix.This arti-cle reviews the role of several MMP in the progression of pancreatic cancer,which have been confirmed by pre-vious studies.At the same time,MMP that may be associated with pancreatic cancer,but whose specific mech-anism has not yet been clarified are discussed in depth,providing a basic theoretical basis for further research on MMP as therapeutic targets for pancreatic cancer.

Adolescent idiopathic scoliosis(AIS)is a complex three-dimensional deformity involving coronal,sagittal,and axial planes,with a prevalence that should not be overlooked.With advancements in technology and in-depth research,an increasing number of hospitals and physicians are exploring standardized diagnostic and treatment approaches for AIS.Comprehensive and in-depth understanding is required for AIS,including its etiology,screening and diagnosis,classification,assessment and examination,treatment options,exploration of current focus,and evaluation of quality of life.Such understanding ensures that the diagnostic and treatment are scientific,standardized,and timely.Based on the principles of evidence-based medicine,a consensus on the diagnosis and treatment of AIS is reached after multiple discussions among spinal surgery experts,aiming to provide reference and guidance for clinical practice.

Objective To investigate whether interleukin-37(IL-37)affects macrophage M1 polarization via nu-cleotide oligomerization of structural domain receptor protein 1(NOD1)/nuclear factor κB(NF-κB)in plasma cell mastitis.Methods A total of 15 patients with plasma cell mastitis were recruited according to the collection standard as inflammatory breast tissue and normal breast tissue with a distance of ≥ 3 cm from the edge of the in-flammatory breast tissue.QPCR was performed to detect NOD1 and IL-3.Phorbol ester(PE)was used to induce THP-1 cells to differentiate into resting macrophages(M0).Lipopolysaccharide(LPS)combined with interferon(IFN-γ)was used to induce the polarization of M0 macrophages towards the M1 phenotype.NOD1 lentiviral RNA interference or over-expression vectors were constructed to regulate the expression of NOD1 in M1 macrophages.M0 macrophages were pretreated with IL-37 recombinant protein and then incubated with LPS and IFN-γ for induction.The expression of NOD1,IL-37,M1 markers(IL-6 and iNOS)and M2 markers(IL-10 and Arg-1)was quantified by qPCR.Western blot was employed to assess the protein level of NOD1,NF-κB p65,and p-NF-κB p65.Co-immunoprecipitation was used to detect the interaction between NOD1 and IL-37.Results Up-regulation of NOD1 and down-regulation of IL-37 as were found in inflammatory breast tissues(P＜0.05).Compared to M0 cells,M1 cells showed up-regulated NOD1 and M1 markers and the elevated phosphorylated NF-κB p65 but the down-regulated IL-37(P＜0.05).In M1 macrophages,both NF-κB inhibitor and NOD1 knockdown led to the down-regulation of NOD1 and M1 markers and caused a decrease in the phosphorylated NF-κB p65(P＜0.05).IL-37 recombinant protein decreased phosphorylation of NOD1,M1 marker and NF-κB p65,which was reversed by over-expression of NOD1.IL-37 may interact with NOD1(P＜0.05).Conclusions IL-37 may inhibit M1 polarization in macrophages by down-regulating NOD1/NF-κB pathway thereby preventing plasma cell mastitis progression.

Objective To analyze the survival status of inpatients with cervical cancer registered in Nantong admitted in Nantong Cancer Hospital from 2002 to 2017. Methods Inpatients with cervical cancer in Nantong Cancer Hospital were followed up from 2017 until December 31, 2020 using active and passive methods to determine their survival outcome. The rate of follow-up loss was statistically analyzed by Chi-square test, the observed survival rate for each year was calculated using the life table, the survival curve was drawn with R language, and the survival rates of patients in different age groups and from different regions were compared with log-rank test (Mantel-Cox). Results A total of 5645 cervical cancer cases were registered. Among them, the survival outcome was recorded for 5512 cases. The success rate of follow-up was 97.64%, and the loss of follow-up rate was 2.36%. The average age of onset was 56.67±12.78 years. The median survival time was 6.54 years, and the 1-, 3-, 5-, and 10-year observed survival rates were 91.50%, 76.95%, 60.99%, and 28.51%, respectively. Among the age groups, significant differences in survival rate were observed between the 15- and 60-year-old groups (χ²=7.469, P=0.006) and between the 15- and 80-year-old groups (χ²=36.317, P < 0.001). No significant difference in survival rate was found between patients from Haimen and Qidong (χ²=2.779, P=0.095) and between patients from Qidong and Tongzhou (χ²=0.515, P=0.473). Significant difference in survival rate was observed among other regions (P < 0.05). Conclusion In this study group, the survival rates of hospital-based patients with cervical cancer significantly differ among the age groups and regions of origin and significantly decreased with age. The high follow-up rate fully reflects the comprehensive effect of the treatment in Nantong Cancer Hospital for registered patients with cervical cancer in Nantong.

BACKGROUND:Bone transport has been used for a variety of reasons in bone defects with good clinical results.However,various complications have also attracted the attention of practitioners and the avoidance of non-healing of the docking point has become a common concern for doctors and patients. OBJECTIVE:To explore effective methods of avoiding non-healing of the docking point in the treatment of tibial bone defects by bone transport so as to shorten the treatment period and reduce the pain of patients. METHODS:The clinical data of 21 patients with unilateral tibial bone defect admitted to the No.910 Hospital of Joint Logistics Support Force of Chinese PLA from January 2018 to January 2021 were retrospectively analyzed,including 16 males and 5 females,aged(32.8±10.3)years,with an average bone defect length of 10.2 cm.All 21 patients received bone transport surgery,during which the bone defect area was filled with bone cement to reduce the adverse factors affecting the healing of the docking point.The Association for the Study and Application of the Methods of Ilizarov,healing index and incidence of adverse reactions were evaluated during postoperative follow-up. RESULTS AND CONCLUSION:The 21 patients were followed up for 15 to 24 months after surgery,and the extended area was all well mineralized and had no malformations,and no refractures occurred during treatment.Among them,one patient had foot drop,which could not be completely corrected after surgical release of the Achilles tendon and wearing foot and ankle orthotics.19 patients had different degrees of needle tract infection,and no deep infection occurred after timely needle tract nursing.The healing rate of the docking point was 100%;the healing index was 36-45 d/cm and the average was 38 d/cm.The Association for the Study and Application of the Methods of Ilizarov showed that bone healing was excellent in 17 cases(81%)and poor in 4 cases(19%).The results of limb function were excellent in 18 cases(86%)and good in 3 cases(14%).These findings show that bone cement segmental filling during bone transport is an effective method to solve the non-healing of the docking point,shorten the patient's treatment period and reduce the patient's pain.