1.Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy
Wenchen HUANG ; Jinli BAI ; Hong WANG ; Yuwei JIN ; Xiaoyin PENG ; Xiushan GE ; Hui JIAO ; Yujin QU ; Fang SONG
Chinese Journal of Medical Genetics 2024;41(10):1187-1194
Objective:To explore the characteristics of SMN1 gene variants and carry out functional verification for two children with Spinal muscular atrophy (SMA). Methods:Two male children with complicated SMA diagnosed at the Children′s Hospital Affiliated to Capital Institute of Pediatrics respectively in July 2021 and April 2022 due to delayed or retrograde motor development were selected as the study subjects. Clinical data of the children were collected. Primary culture of skin fibroblasts was carried out, and peripheral blood samples were collected from both children and their parents. Multiplex ligation-dependent probe amplification, combined long-range PCR and nested PCR, and Sanger sequencing were carried out to detect the copy number and variants of the SMN1 gene. Absolute quantitative real-time PCR, Western blotting and immunofluorescence were used to determine the transcriptional level of the SMN gene, expression of the SMN protein, and the number of functional SMN protein complexes (gems body), respectively. This study was approved by Medical Ethics Committee of the Children′s Hospital Affiliated to Capital Institute of Pediatrics (Ethics No. SHERLLM2021009). Results:Child 1, a 1-year-old boy, was clinically diagnosed with type 1 SMA. Child 2, a 2-and-a-half-year-old boy, was clinically diagnosed with type 3 SMA. Both children were found to harbor a paternally derived SMN1 deletion and a maternally derived SMN1 gene variant, namely c. 824G>T (p.Gly275Val) and c. 884A>T (p.*295Leu). Compared with the normal controls and carriers, the levels of full-length SMN1 transcripts in their peripheral blood and skin fibroblast cell lines were significantly decreased ( P<0.05), and the levels of SMN protein normalized to that of β-actin, and the numbers of gems bodies in the primary fibroblast cells were also significantly lower ( P<0.05). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic (PS3+ PM3+ PM5+ PP3; PS3+ PM3+ PM4+ PP3). Following the diagnosis, both children had received nusinersen treatment. Although their motor function was improved, child 1 still died at the age of 2 due to severe pulmonary infection. The walking ability of child 2 was significantly improved, and his prognosis appeared to be good. Conclusion:Two cases of clinically complicated SMA have been confirmed by genetic testing and experimental studies, which has provided a reference for their accurate treatment.
2.Exploration of the medical complaint prevention system in improving the quality of medical services
Boxian ZHANG ; Yulei HUANG ; Peng BAO ; Yuwei LIAO ; Jiali TAN
Modern Hospital 2024;24(9):1369-1372
Objective To explore and establish a medical complaint prevention system in stomatological hospitals,eval-uate its effect on improving the quality of medical services,in order to provide practical experience for the high-quality develop-ment of peer hospitals.Methods The sample hospitals were problem-oriented,based on the concept of PDCA cycle manage-ment,and integrated multidisciplinary knowledge.Successfully established a medical complaint prevention system for dental hos-pitals.This system mainly includes the planning phase:collecting and analyzing complaint characteristics,formulating plans and expected goals;Implementation stage:Adhere to problem oriented approach and actively implement measures that have been for-mulated;Check stage:Regularly evaluate the effectiveness of measures and conduct targeted surveys of patient opinions;Action stage:Summarizing relevant experiences and developing a recycling and rectification plan,and it has played an important role in improving the quality of medical services in sample hospitals,achieving significant results.Results Compared with 2022,the total number of outpatient and emergency patients in the sample hospitals increased by 14.4%in 2023,the total number of medi-cal complaints decreased by 7.6%,the total number of praise letters from patients and their families to medical staff increased fourfold,and the total number of suggestions for hospital improvement and enhancement decreased by 71.4%.Conclusion The medical complaint prevention system in dental hospitals has improved the quality of medical services in sample hospitals to a cer-tain extent,and the relevant experience is worth promoting.
3.Utilization of sexual and reproductive health services and its correlates among community- based older adults in Chongqing
Xin PENG ; Bingyi WANG ; Xinyi LI ; Yuwei LI ; Yong LU ; Guohui WU ; Lin OUYANG ; Huachun ZOU
Chinese Journal of Epidemiology 2023;44(12):1880-1885
Objective:To investigate the utilization of sexual health services among community-based older adults in Chongqing and explore its potential correlates.Methods:A cross-sectional survey using multistage sampling among community-based older adults aged ≥50 years was conducted in Chongqing between June 2020 and December 2022. A questionnaire including information on demographic characteristics, general health, sexual health status, and sexual health services utilization was collected. Sexual health and reproductive services utilization was defined as having ever been tested for human immunodeficiency virus (HIV), or having had a male/gynecological reproductive health examination in the past year. Logistic regression was used to examine the correlates of the utilization of sexual health services.Results:A total of 794 community-based older adults participated in the study (482 were male, and 312 were female). The mean age was (62.8±8.2) years. The proportion of HIV testing was 18.0%, and the proportion of reproductive health examination was 10.1% among community-based older adults. The results of multivariate logistic regression analysis showed that the age group of 60-69 years (a OR=0.37, 95% CI: 0.18-0.76), female (a OR=11.34, 95% CI: 5.71-22.52), monthly income ≥5 000 yuan (a OR=3.05, 95% CI: 1.01-9.27), being sexual activity (a OR=4.99, 95% CI: 2.23-11.15) was significantly associated with had a reproductive health examination in the past year. Conclusions:The proportion of sexual health services utilization among older adults was low. Older sexual health education should be further strengthened, the close relationship between older adults should be correctly guided and dealt with, and the sexual health services suitable for the older population should be formulated.
4.Influences of the copy number of SMN2 and transcript level of fl-SMN2 on the phenotype and survival of spinal muscular atrophy
Shijia OUYANG ; Jinli BAI ; Yuwei JIN ; Hong WANG ; Wenchen HUANG ; Xiaoyin PENG ; Xiushan GE ; Hui JIAO ; Yujin QU ; Fang SONG
Chinese Journal of Applied Clinical Pediatrics 2023;38(11):863-868
Objective:To explore the distribution of the copy number of survival motor neuron gene 2 ( SMN2) and the transcript level of the full-length SMN2 ( fl-SMN2) transcript level in patients with type 1-3 spinal muscular atrophy (SMA), and to evaluate their influences on disease severity, progression, and prognosis. Methods:It was a retrospective study involving 78 therapy-naive SMA patients with SMN1 gene homozygous deletion who were diagnosed and treated in the Capital Institute of Pediatrics from January 2019 to December 2021.Cross-sectional clinical data, including age at onset, motor milestones, and complications were recorded.They were followed up for monitoring motor function degeneration and survival.The copy number of SMN2 and the transcript level of fl-SMN2 were detected.Differences between groups were compared by the Student′s t-test or One- Way ANOVA or Chi- square test.Kaplan-Meier analysis was used for survival analysis, and Kendall′ s tau- c was performed to assess the correlation of these two biomarkers with SMA phenotypes, age at onset, motor milestones, and survival. Results:Of the 78 SMA patients, there were 17 cases (21.8%) of type 1, 34 cases(43.6%) of type 2, and 27 cases(34.6%) of type 3.Seven cases(41.2%) type 1 SMA patients died, with a median survival time of 11 months, and no deaths were observed in type 2 and type 3 SMA patients.There was a significant difference in the median age at onset among SMA patients with 2, 3, and 4 copies of SMN2 (1.8, 12.0, and 24.0 months, respectively; F=4.943, P=0.01). The mean transcript level of fl-SMN2 in type 1, 2 and 3 SMA patients were 196.25±68.79, 331.21±108.79 and 455.69±122.27, respectively ( F=37.154, P<0.001). The survival rate of SMA with 2 SMN2 copies at 1, 2, and 5 years were 50.5%, 0, and 0, respectively, and their median survival age was 7 months.The survival rate of SMA with 3 and 4 SMN2 copies at 5 years were 97.4% and 100.0%, respectively.Moreover, a negative correlation was observed between the transcript level of fl-SMN2 and phenotype severity ( Kendall′ s tau- c=-0.444, P<0.001), and the transcript level of fl-SMN2 of the survival group was much higher than that of the death group (342.93±125.74 vs.212.14±92.31). More copies of SMN2 and higher transcript level of fl- SMN2 indicated more motor function acquisitions (head control, sitting and walking) ( P<0.001). In addition, there was a significant difference in the transcription level of fl-SMN2 between the undegenerated group and the degenerated group in sitting and standing ( F=5.432, P=0.023 and F=4.315, P=0.047, respectively). Conclusions:Both the copy number of SMN2 and the transcript level of fl-SMN2 are correlated with SMA severity, survival, and motor milestones, serving as valuable biomarkers for evaluating phenotypic severity of SMA.The transcript level of fl-SMN2 s may play an important role in the degeneration of sitting and standing.
5.Current status and prospects of non-surgical treatment for fecal incontinence
Chuanyue PENG ; Mingsen LI ; Yuwei LI ; Chen XU
Chinese Journal of Gastrointestinal Surgery 2023;26(12):1138-1142
Fecal incontinence is a refractory disease in colorectal surgery. The main clinical manifestation is that patients cannot control the discharge of gas, solid or liquid feces in the rectum autonomously. It is easy to bring shame to patients and seriously affect their physical and mental health. Reducing the frequency of fecal incontinence, restoring anal sphincter function, and improving patient quality of life are important goals for treating fecal incontinence. With the development of medical technology and the improvement of treatment plans for fecal incontinence, patients with fecal incontinence usually undergo conservative treatment first, and if conservative treatment is ineffective, surgery can be chosen. Non-surgical treatment methods commonly used in clinical practice include biofeedback therapy, magnetic stimulation therapy, pelvic floor muscle training, anal sphincter training, Kegel training, and other rehabilitation treatments. This article discusses the non-surgical treatment methods for fecal incontinence, hoping to provide a choice for clinical treatment of fecal incontinence.
6.Current status and prospects of non-surgical treatment for fecal incontinence
Chuanyue PENG ; Mingsen LI ; Yuwei LI ; Chen XU
Chinese Journal of Gastrointestinal Surgery 2023;26(12):1138-1142
Fecal incontinence is a refractory disease in colorectal surgery. The main clinical manifestation is that patients cannot control the discharge of gas, solid or liquid feces in the rectum autonomously. It is easy to bring shame to patients and seriously affect their physical and mental health. Reducing the frequency of fecal incontinence, restoring anal sphincter function, and improving patient quality of life are important goals for treating fecal incontinence. With the development of medical technology and the improvement of treatment plans for fecal incontinence, patients with fecal incontinence usually undergo conservative treatment first, and if conservative treatment is ineffective, surgery can be chosen. Non-surgical treatment methods commonly used in clinical practice include biofeedback therapy, magnetic stimulation therapy, pelvic floor muscle training, anal sphincter training, Kegel training, and other rehabilitation treatments. This article discusses the non-surgical treatment methods for fecal incontinence, hoping to provide a choice for clinical treatment of fecal incontinence.
7.Treatment of benign tumors in the lumbar spinal canal by recapping laminoplasty preserving the continuity of superior spinous ligament
Yuwei LI ; Haijiao WANG ; Wei CUI ; Peng ZHOU ; Fan LI ; Yuanhao LIU ; Jingyi XU ; Tiantian TANG
Chinese Journal of Neuromedicine 2022;21(5):469-473
Objective:To investigate the efficacy of recapping laminoplasty preserving the continuity of superior spinous ligament in the treatment of benign tumors in the lumbar spinal canal.Methods:A retrospective analysis was performed. The clinical data of 23 patients with benign tumors in lumbar spinal canal, admitted to our hospital from March 2018 to March 2020, were collected. Follow up was performed for 12-23 months; Japanese Orthopaedic Association (JOA) scores were used for efficacy evaluation. X-ray, CT and MRI were used for imaging evaluation.Results:The number of replanted lamina was 1-4, with an average of 2.2. The surgical duration was (77.2±22.7) min, ranged from 67 min to 146 min; and the amount of intraoperative bleeding was (127±32.6) mL, ranged from 90-290 mL. The tumors were completely removed in all patients, and there were 2 patients complicated with cerebrospinal fluid leakage, and the wound healed after electrolyte supplement and local pressure treatment. No spinal cord injury, epidural hematoma, infection or other related complications were noted. The JOA scores increased from 11.85±1.38 before surgery to 23.22±2.47 at the last follow-up, with significant difference ( t=18.505, P<0.001). Of them, 10 had excellent efficacy, 9 had good efficacy, and 4 had medium efficacy, enjoying an excellent and good rate of 82.6%. Lumbar lordosis angle (LLA) was (51.58±2.39)°at the last follow-up, which showed no significant difference as compared with the preoperative LLA ([52.24±3.17]°, t=0.672, P=0.505). Imaging results showed that there was no spondylolisthesis or instability of lumbar spine, no recurrence of tumors was noted, and no displacement of lamina or secondary reduction of spinal canal volume were noted. Conclusion:The treatment of benign tumors in lumbar spinal canal by modified recapping laminoplasty preserving the continuity of superior spinous ligament can restore the normal anatomical structure of lumbar spinal canal, achieve no bone loss and maintain lumbar curvature well.
8.The screening of patients with hepatocellular carcinoma suitable for TACE after radical resection based on microvascular invasion and Ki-67 expression
Xiangyu XU ; Peng LIU ; Kui LIU ; Kun LI ; Yuwei XIE ; Ruiqian GAO ; Yonghui MA ; Jingyu CAO
Chinese Journal of Hepatobiliary Surgery 2022;28(5):342-346
Objective:To investigate the patients with hepatocellular carcinoma suitable for transcatheter arterial chemoembolization (TACE) after radical resection who were screened based on microvascular invasion (MVI) and Ki-67 expression.Methods:Of 400 patients with hepatocellular carcinoma who underwent radical resection in the Affiliated Hospital of Qingdao University from January 2013 to December 2019 were included and analyzed retrospectively, including 324 males and 76 females, aged (59.7±9.8) years, ranging from 32 to 87 years. According to whether they received adjuvant TACE treatment after operation, they were divided into simple operation group ( n=210) and TACE + operation group ( n=190). The recurrence in the first year after operation was followed up by outpatient reexamination. Univariate and multivariate Cox regression analysis were used to analyze the influencing factors of recurrence free survival after surgical resection. Subgroup analysis was performed according to Ki-67 and MVI to compare the recurrence free survival. Results:Multivariate Cox regression analysis showed that patients with proportion of Ki-67 positive cells ≥27.5% ( HR=2.073, 95% CI: 1.433-3.000, P<0.001) and MVI positive ( HR=2.339, 95% CI: 1.584-3.456, P<0.001) had increased risk of recurrence after radical resection. The 1-year cumulative recurrence free survival rate in the simple operation group was 70.0%, and there was no significant difference compared with 67.9% in the operation + TACE group( χ 2=0.08, P=0.774). Subgroup analysis: in the low expression of Ki-67 combined with negative MVI group ( n=128), the cumulative recurrence free survival rate of one year after operation in the simple operation group ( n=84) was 91.7%, which was significantly higher than 72.7% in the operation + TACE group ( n=44)( χ 2=8.22, P=0.004). There was no significant difference in the 1-year cumulative recurrence free survival rate between the simple operation group and the operation + TACE group (both P>0.05) in patients of Ki-67 high expression combined with MVI negative or Ki-67 low expression combined with MVI positive. In the Ki-67 high expression combined with MVI positive group ( n=107), the cumulative one-year recurrence free survival rate in the simple operation group ( n=62) was 40.3%, which was significantly lower than 60.0% in the operation + TACE group ( n=45)(χ 2=4.22, P=0.040). Conclusion:High expression of Ki-67 (≥27.5%) combined with positive MVI are the prediction factors for postoperative TACE treatment. Low expression Ki-67 (<27.5%) combined with negative MVI was contraindicated for postoperative TACE treatment.
9.Da Chaihutang Inhibits Hepatocellular Carcinoma by Regulating p38 MAPK/IL-6/STAT3 Signaling Pathway
Xi QIAO ; Shihao XU ; Yuwei WANG ; Bing FENG ; Peike PENG ; Kaikai SHEN
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(16):19-28
ObjectiveThis study aims to investigate the efficacy and underlying mechanism of Da Chaihutang (DCHT) in treating hepatocellular carcinoma (HCC) in vitro and in vivo. MethodWe employed methyl thiazolyl tetrazolium (MTT) assay and crystal violet staining to observe the proliferation of Hepa1-6 liver cancer cells treated with DCHT at different doses (0, 125, 250, 500, 1 000 mg·L-1) for different time periods (1, 2, 4, 8 days). The orthotopic liver cancer model was established by injection of 1×106 Hepa1-6 cells into mouse, and then the model mice were randomly assigned into six groups: blank, model, DCHT (0.21, 0.625, 1.875 g·kg-1, ig, qd), and positive control (5-fluorouracil, 25 mg·kg-1, ip, qod). After 14 days of administration, the mice were sacrificed, and the liver samples were collected and fixed in 4% paraformaldehyde for hematoxylin-eosin (HE) staining. The Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), Cytoscape 3.7.2, STRING, and DAVID were used for the searching of the key targets of DCHT in treating HCC, the construction of protein-protein interaction (PPI) network, and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment. Quantitative real-time PCR was performed to determine the mRNA level of interleukin-6 (IL-6) in Hepa1-6 cells and liver tissue. Western blotting was employed to measure the protein levels of the proteins involved in the mitogen-activated protein kinase (MAPK) and signal transducers and activators of transcription 3 (STAT3) signaling pathways. ResultDCHT (500, 1 000 mg·L-1) treatment for 4 and 8 days inhibited the proliferation of Hepa1-6 cells in a dose- and time-dependent manner (P<0.05). The in vivo assay showed that DCHT (high dose, 1.875 g·kg-1) treatment for 14 days led to high differentiation and unobvious heterogeneity of HCC cells and small necrotic area compared with the model group. Network pharmacology analysis predicted that the potential targets of DCHT in the treatment of HCC were mainly the inflammation cytokines such as IL-6, interleukin-1β (IL-1β), and tumor necrosis factor-alpha (TNF-α) in HCC microenvironment. The potential signaling pathways involved in the treatment were mainly associated with HCC growth and differentiation, including MAPK and STAT3 signaling pathways. Compared with the blank group, DCHT (1 000 mg·L-1) treatment for 1, 2, 4, and 8 days down-regulated the mRNA level of IL-6 in Hepa1-6 cells (P<0.05). Similar results were observed in the livers of mice treated with DCHT (0.625, 1.875 g·kg-1). The in vitro assay demonstrated that DCHT (1 000 mg·L-1) treatment for 4 and 8 days and DCHT (500, 1 000 mg·L-1) treatment inhibited the phosphorylation of extracellular signal-regulated kinases 1/2 (ERK1/2), c-Jun NH2-terminal kinase/stress-activated protein kinase (JNK), p38 MAPK, and STAT3 in a dose- and time-dependent manner (P<0.05). The in vivo assay showed that DCHT (0.625 and 1.875 g·kg-1) treatment only inhibited the phosphorylation of p38 MAPK and STAT3 (P<0.05). ConclusionThe present study indicates that DCHT can inhibit liver cancer cell proliferation by regulating p38 MAPK/IL-6/STAT3 signaling pathway.
10.Research progress on optimization strategies for microencapsulated islet transplantation
Wanli LI ; Bingzheng FENG ; Yuwei YANG ; Lingling WU ; Shanshan GU ; Peng JIANG ; Jibing CHEN ; Hongjun GAO
Organ Transplantation 2022;13(2):258-
Islet transplantation is one of the effective therapies for diabetes mellitus. Nevertheless, multiple issues still exist, such as shortage of donors and adverse reactions caused by long-term use of immunosuppressants, which limit the islet survival post-transplantation. Microencapsulated islet transplantation may overcome these difficulties to certain extent, whereas many factors, such as the destruction of immune isolation microenvironment within the microcapsules and insufficient supply of oxygen and nutrients, constrain the application of microencapsulated islet transplantation in clinical practice. In recent years, how to enhance the effect of microencapsulated islet transplantation has been gradually studied. The application of stem cells in microencapsulated islet transplantation has steadily become a research hot spot. Therefore, the optimizing strategies for microencapsulated islet transplantation and the application of stem cells in microencapsulated islet transplantation were reviewed, and the potential improvement techniques of microencapsulated islet transplantation were investigated in this article, aiming to provide reference for further clinical application of microencapsulated islet transplantation.

Result Analysis
Print
Save
E-mail