1.Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Yunyun LIU ; Jing WANG ; Ling WANG ; Lin CHEN ; Dan XIE ; Li WANG ; Sha LIU ; Jianlong LIU ; Ting BAI ; Xiaosha JING ; Cechuan DENG ; Tianyu XIA ; Jing CHENG ; Lingling XING ; Xiang WEI ; Yuan LUO ; Quanfang ZHOU ; Ling LIU ; Qian ZHU ; Hongqian LIU
Chinese Medical Journal 2025;138(4):499-501
2.Effectiveness of Acupuncture in Improving Quality of Life for Patients with Advanced Cancer: A Systematic Review and Meta-Analysis.
Xin YU ; Si-Yao GONG ; Qin LUO ; Gui-Xing XU ; Hao TIAN ; Qian LI ; Ming CHEN ; Sha YANG ; Shu-Guang YU
Chinese journal of integrative medicine 2025;31(4):360-371
OBJECTIVE:
To investigate the effect of acupuncture on advanced cancer patients by meta-analysis.
METHODS:
Nine databases (the Cochrane Central Register of Controlled Trials, MEDLINE, Web of Science, Embase, China National Knowledge Infrastructure, the Cumulative Index to Nursing and Allied Health Literature, Chinese Biomedical Literature Database, China Science and Technology Journal Database, and WanFang Data) were searched for randomized controlled trials (RCTs) on acupuncture in advanced cancer patients published from inception to February 13, 2023 and updated to June 1, 2023. Primary outcomes were quality of life (QOL), while secondary outcomes were pain, fatigue, and adverse events (side effects). Data synthesis was performed using RevMan V.5.3 to calculate pooled effect sizes. RoB-2 was used for the risk of bias, and the quality of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) tool.
RESULTS:
Totally 17 RCTs involving 1,178 participants were included, 15 of which were pooled for meta-analysis. Most studies demonstrated some concern for the overall risk of bias. The pooled data indicated that acupuncture was associated with improved QOL [mean difference (MD)=6.67, 95% confidence interval (CI): 5.09 to 8.26], pain (MD=-1.18, 95% CI -2.28 to -0.08), and adverse events (risk ratio=0.30, 95% CI: 0.26 to 0.57) compared with control groups. Fatigue outcome was not included. Heterogeneity was substantial, and GRADE evidence was very low for both QOL and pain.
CONCLUSIONS
Acupuncture could benefit patients with advanced cancer and is considered safe compared with usual care. However, the evidence regarding QOL and pain outcomes requires further validation. It is crucial to encourage the development of high-quality studies to strengthen this evidence. (Registry No. CRD42023423539).
Humans
;
Acupuncture Therapy
;
Neoplasms/therapy*
;
Quality of Life
;
Randomized Controlled Trials as Topic
;
Treatment Outcome
3.The natural history of the relationship between OTOF mutation-related genotypes and audiological phenotypes.
Lei HAN ; Liheng CHEN ; Sha YU ; Yuxin CHEN ; Luoying JIANG ; Shuang HAN ; Jiake ZHONG ; Luo GUO ; Huawei LI ; Yilai SHU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(4):379-385
Sensorineural hearing loss is one of the most common sensory disorders. In recent years, auditory neuropathy spectrum disorders caused by mutations in the OTOF gene have garnered significant attention worldwide, marking it as the first deafness gene with breakthroughs in gene therapy. Most patients with OTOF gene mutations present with stable, congenital, or prelingual onset of hearing loss, which can range from severe to profound and even complete hearing loss. However, a minority of patients may exhibit mild to moderate progressive hearing loss or temperature-sensitive hearing loss. This review further explores the genotype-phenotype relationship of the OTOF gene based on reported cases in China and abroad. Additionally, we analyze the characteristics of the natural history of OTOF gene mutations within the Chinese population. This study aims to provide a reference for the clinical diagnosis, evaluation, and treatment of hearing loss associated with OTOF gene mutations.
Humans
;
Mutation
;
Phenotype
;
Genotype
;
Hearing Loss, Sensorineural/genetics*
;
Membrane Proteins/genetics*
4.Effects of catalpol on necrotic apoptosis in rats with acute myocardial infarction by regulating the RIP1/RIP3/MLKL signaling pathway
Hai-Sha LI ; Hui-Ru PENG ; Hui LUO ; Wen-Ting TAN ; Zeng LI
The Chinese Journal of Clinical Pharmacology 2024;40(14):2063-2067
Objective To investigate the effect of catalpol(CAT)on necrotic apoptosis in acute myocardial infarction(AMI)rats.Methods Rat AMI model was constructed by ligating the anterior descending branch of the left coronary artery.Sixty SPF grade SD male rats were randomly grouped into sham surgery group(Sham group),AMI model group(Model group),low-dose CAT group(CAT-L group,30 mg·kg-1 CAT),high-dose CAT group(CAT-H group,60 mg·kg-1 CAT),and high-dose CAT+RIP1 activator recombinant RIP1 group(CAT-H+rRIP1 group,60 mg·kg-1 CAT+8 μg·kg-1 rRIP1),12 in each group.CAT was administered by gavage once a day for a total of 4 weeks.Recombinant RIP1 was administered via tail vein injection and the next day for a total of 4 weeks.Sham group and Model group were given equal amounts of physiological saline by gavage and tail vein injection,respectively.The CAT-L group and CAT-H group were injected with physiological saline via the tail vein the next day while receiving gastric lavage.TUNEL staining was applied to observe the apoptosis of rat cardiomyocytes.Western Blot was applied to detect the expression of RIP1/RIP3/MLKL signaling pathway related proteins in rat myocardial tissue.Results The apoptosis rates of myocardial cells in the sham group,model group,CAT-L group,CAT-H group,and CAT-H+rRIP1 group were(4.23±0.63)%,(33.48±3.94)%,(13.50±1.86)%,and(29.62±3.08)%,respectively;the expression levels of RIP1 protein in myocardial tissue were 0.21±0.02,0.86±0.09,0.43±0.04,and 0.72±0.07,respectively;the expression levels of RIP3 protein were 0.30±0.03,0.94±0.09,0.49±0.05,and 0.83±0.08,respectively;the phosphorylation levels of MLKL protein were 0.35±0.04,1.13±0.11,0.64±0.06,and 0.97±0.10,respectively.The above indexes in Model group were compared with those in Sham group,and those in CAT-H group were compared with those in Model group and CAT-H+rRIP1 group,and the differences were statistically significant(all P<0.05).Conclusion CAT may inhibit necrotic apoptosis of myocardial cells in AMI rats by down-regulating the RIP1/RIP3/MLKL signaling pathway.
5.Clinical evaluation value of CD4 + T lymphocyte subsetsin patients with recurrent uveitis in Beh?et′s disease
Shilin LU ; Na ZHANG ; Sha ZHANG ; Wei LIU ; Xiaoqing LI ; Kunping GUAN ; Jing LUO ; Xiaodong LI ; Lei SHI ; Caihong WANG
Chinese Journal of Rheumatology 2024;28(6):379-385
Objective:To evaluate the clinical value of CD4 + T lymphocyte subsets such as helper Th2 in patients with recurrent uveitis (BU) in Beh?et′s disease (BD). Methods:The clinical data of 153 hospitalized patients diagnosed with Beh?et′s disease from January 1, 2020 to June 30, 2023 in the Second Hospital of Shanxi Medical University were retrospectively analyzed. The subsets of CD4 + T lymphocytes were measured, including helper T cells (Th cells) such as Th1, Th2, Th17 and regulatory T cells (Treg cells), biochemical lipid indexes (TC, TG, etc.), the frequency of oral ulcers in the past 1 year, the frequency of genital ulcers in the past 1 year, and drug use before admission;According to whether there was ocular involvement and uveitis, 153 cases of BD were divided into Beh?et non-uveitis group (non-BU group) and Beh?et uveitis group (BU group). The above indexes and independent correlation factors of recurrent BU were compared between BU group and non-BU group;The above indexes and independent correlation factors of recurrent BU were compared between BU group and non-BU group. The levels of cytokines and ICBD total score, the correlation between ICBD total score and various cytokines, and the diagnostic performance of Th2 cells were compared between BU group and non-BU group.The statistical methods were Mann-Whitney U test, independent sample t test, Chi-square test, multiple logistic regression analysis, Pearson correlation analysis and receiver operating characteristic curve (ROC) analysis. Results:①The levels of Th1, Th2, Th17 cells, TC and TG in BU group were higher than those in non-BU group [133.87 (93.38, 229.87)/μl vs. 102.51(64.25, 149.23)/μl] and [9.43 (5.84, 14.13)/μl vs. 6.78(4.23, 9.44)/μl], [15.53 (9.36, 25.27)/μl vs. 9.83(5.46, 14.76)/μl], [4.21 (3.89, 4.90) mmol/L vs. 3.89(3.37, 4.34)mmol/L)], [1.43(1.00, 2.21)mmol/L vs. 0.96(0.69, 1.38)mmol/L], The differences were statistically significant ( Z=-3.24, Z=-3.05, Z=-3.94, Z=-2.25, Z=-3.47; all P<0.05); There was no statistical significance in Chi-square test between the two groups ( χ2=5.69, P>0.05).②The levels of IL-2, IL-10 and total ICBD score in BU group were higher than those in non-BU group, with statistical significance ( Z=-2.12, Z=-2.29, t=-6.48; all P<0.05). ③ The results of multiple logistic regression analysis showed that Th2 was an independent correlation factor for BU [ OR value (95% CI) was 1.143(1.007, 1.298), P=0.039]. The total score of BU patients was correlated with Th2 and Th17 cells. ROC analysis showed that the sensitivity of Th2 in diagnosing BU was 68.8%, the specificity was 49.5% and the area under the curve (95% CI) was 0.697 (0.585, 0.809) (P=0.001). Conclusion:CD4 + T lymphocyte subsets such as the absolute number of Th2 cells are related to BU, which is an important indicator to observe the severity of disease progression in BU patients, and has certain clinical value in evaluating the recurrence of BU in BD patients.
6. Research progress of diabetic renal fibrosis
Na SONG ; Min LUO ; Peng WANG ; Rong HUANG ; Lve-Li WANG ; Ling ZHANG ; Wei-Min YANG ; Sha WU ; Yun-Ke SHI ; Yi-Mine MA
Chinese Pharmacological Bulletin 2023;39(7):1222-1227
Diabetic nephropathy (DN) is one of the most common and serious microvascular complications in patients with diabetes mellitus. Diabetic renal fibrosis ( DRF) is a major pathological change in the development of DN. In recent years the incidence of renal fibrosis (RF) has remained high. For diabetic patients, RF may expose them to kidney transplantation or even death, which brings a great burden to themselves and their families. Therefore, learning the pathogenesis and the current treat ment status of DRF is crucial for the treatment of the disease and the development of new drugs. Here we review the general situa¬tion of DN, the general situation, molecular mechanism, and the treatment of DRF,looking forward to providing a reference for the research and treatment of DRF.
7. Molecular mechanism of a Matijin-su derivative for inhibiting proliferation, invasion and migration of prostate cancer cells
Cai-Hong WU ; Jia YU ; Sha CHENG ; Lan-Lan LI ; Bi-Xue XU ; Heng LUO ; Cai-Hong WU ; Lan-Lan LI ; Jia YU ; Sha CHENG ; Bi-Xue XU ; Heng LUO ; Ming-Fei YANG
Chinese Pharmacological Bulletin 2023;39(3):453-462
Aim To investigate the effects of HXL130 on the proliferation, invasion and migration of prostate cancer PC3 cells and its molecular mechanism. Methods MTT assay was used to detect the effect of HXL130 on the proliferation of prostate cancer PC3 cells. Hoechst 33258 staining and flow cytometry were used to detect the effects on apoptosis and cell cycle of cancer cells. Transwell was used to detect the effects of compounds on the invasion and migration of cancer cells. Proteomic sequencing was employed to detect differentially expressed proteins (DEPs) induced by compound treatment of cancer cells. Bioinformatics was used to analyze the functions of DEPs and the related signaling pathways regulated by DEPs, and Western blot was used to verify the result. Results The survival rate of PC3 cells decreased with the increase of HXL130 concentration and treatment time. HXL130 could significantly induce cell apoptosis and block G
8.Phosphodiesterase 5 Inhibitors Attenuate Unilateral Ureteral Obstruction-Induced Renal Fibrosis
Qing-xian ZHAI ; Meng LI ; Luo-sha LONG ; Bai-en LIANG ; Wei-dong WANG
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(6):931-942
ObjectiveTo investigate whether phosphodiesterase (PDE) 5 inhibitors sildenafil (SIL) or LW1646 prevented renal interstitial fibrosis induced by unilateral ureteral obstruction (UUO). MethodsMale C57BL/6 mice were randomly divided into four groups (n =6), namely the Sham group, 7UUO group, 7UUO+SIL group and 7UUO+LW1646 group. Sildenafil (SIL) or LW1646, or vehicle was administered 1 hour before surgery, and the mice were continuously treated once daily (i. g., 50 mg/kg) for 7 days. The obstructed kidneys were harvested on day 7. Hematoxylin-eosin (HE) and Masson’s staining was used to examine renal histology. Immunoblotting and RT-qPCR were used to detect the expression levels of protein and mRNA for fibrosis, apoptosis, endoplasmic reticulum (ER) stress, autophagy, and pro-fibrotic factors. Human proximal tubule epithelial cells (HK-2) were treated with TGF-β1 for 48 hours or tunicamycin for 24 hours, respectively, to evaluate whether cyclic guanosine monophosphate (cGMP) or PDE5 inhibitors prevents ER stress and pro-fibrotic responses. ResultsAt the 7th days after UUO, the body weight of the mice showed a significant decrease (P< 0.000 1) compared with that in the sham group. The obstructed kidneys showed a significant tubular dilation and interstitial inflammation. The levels of protein and mRNA expression in apoptosis, ER stress, autophagy-related protein and pro-fibrotic factors were also markedly increased in UUO mice (P <0.05). In contrast, SIL or LW1646 treatment was associated with attenuated tubular dilation, infiltration of inflammatory cells and collagen content in the obstructed kidney of the mice. The protein and mRNA expression levels of renal TGF-β1 were markedly decreased, and the protein expression levels of apoptosis, endoplasmic reticulum stress, and autophagy markers were also significantly downregulated by PDE5 inhibitors. In HK-2 cells, TGF-β1 induced increased expression levels of fibronectin and BiP, which was at least partially reversed by cGMP, a product of PDE inhibition. Additionally, PDE5 inhibitors were found to modulate aberrant levels of autophagy and apoptosis. ConclusionIn conclusion, PDE5 inhibitors, in particular, LW1646, can alleviate the progression of fibrosis by improving ER stress, apoptosis and autophagy as well as downregulating protein and mRNA expression of TGF-β1.
9.Clinical observation of virtual reality technology combined with isokinetic strength training for patients after anterior cruciate ligament reconstruction.
Yue-Lun LU ; Song-He JIANG ; Sha-Sha HUANG ; Guo-Gang LUO ; Zhong-Qin LIN ; Jin-Bin LI
China Journal of Orthopaedics and Traumatology 2023;36(12):1159-1164
OBJECTIVE:
To explore application value and effectiveness of virtual reality technology combined with isokinetic muscle strength training in the rehabilitation of patients after anterior cruciate ligament (ACL) reconstruction surgery.
METHODS:
Forty patients who underwent ACL reconstruction surgery from December 2021 to January 2023 were selected and divided into control group and observation group according to treatment methods, 20 patients in each group. Control group was received routine rehabilitation training combined with isokinetic muscle strength training, including 15 males and 5 females, aged from 17 to 44 years old, with an average of (29.10±8.60) years old. Observation group was performed virtual reality technology combined with isokinetic muscle strength training, including 16 males and 4 females, aged from 17 to 45 years old with an average of (30.95±9.11) years old. Lysholm knee joint score, knee extension peak torque, and knee flexion peak torque between two groups at 12 (before training) and 16 weeks (after training) after surgery were compared.
RESULTS:
All patients were followed up for 1 to 6 months with an average of (3.30±1.42) months. There were no statistically significant difference in Lysholm knee joint score, peak knee extension peak torque, and peak knee flexion peak torque between two groups (P>0.05) before training. After training, Lysholm knee joint score, knee extension peak torque, and knee flexion peak torque of both groups were improved compared to before training (P<0.05);there were significant difference in Lysholm knee joint score, knee extension peak torque, and knee flexion peak torque between two groups(P<0.05).
CONCLUSION
The application of virtual reality technology combined with isokinetic muscle strength training could promote recovery of knee joint function and enhance muscle strength in patients after ACL reconstruction surgery in further.
Male
;
Female
;
Humans
;
Adolescent
;
Young Adult
;
Adult
;
Middle Aged
;
Anterior Cruciate Ligament Injuries/surgery*
;
Resistance Training
;
Knee Joint/surgery*
;
Anterior Cruciate Ligament Reconstruction/methods*
;
Knee Injuries/surgery*
;
Muscle Strength/physiology*
10.Clinical and molecular biological characterization of patients with accelerated chronic lymphocytic leukemia.
Zi Yuan ZHOU ; Luo Meng Jia DAI ; Ye Qin SHA ; Tong Lu QIU ; Shu Chao QIN ; Yi MIAO ; Yi XIA ; Wei WU ; Han Ning TANG ; Wei XU ; Jian Yong LI ; Hua Yuan ZHU
Chinese Journal of Hematology 2023;44(11):917-923
Objective: To investigate the clinical and molecular biological characteristics of patients with accelerated chronic lymphocytic leukemia (aCLL) . Methods: From January 2020 to October 2022, the data of 13 patients diagnosed with aCLL at The First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed to explore the clinical and molecular biological characteristics of aCLL. Results: The median age of the patients was 54 (35-72) years. Prior to aCLL, five patients received no treatment for CLL/small lymphocytic lymphoma (SLL), while the other patients received treatment, predominantly with BTK inhibitors. The patients were diagnosed with aCLL through pathological confirmation upon disease progression. Six patients exhibited bulky disease (lesions with a maximum diameter ≥5 cm). Positron emission tomography (PET) -computed tomography (CT) images revealed metabolic heterogeneity, both between and within lesions, and the median maximum standardized uptake value (SUVmax) of the lesion with the most elevated metabolic activity was 6.96 (2.51-11.90). Patients with unmutated IGHV CLL accounted for 76.9% (10/13), and the most frequent genetic and molecular aberrations included +12 [3/7 (42.9% ) ], ATM mutation [6/12 (50% ) ], and NOTCH1 mutation [6/12 (50% ) ]. Twelve patients received subsequent treatment. The overall response rate was 91.7%, and the complete response rate was 58.3%. Five patients experienced disease progression, among which two patients developed Richter transformation. Patients with aCLL with KRAS mutation had worse progression-free survival (7.0 month vs 26.3 months, P=0.015) . Conclusion: Patients with aCLL exhibited a clinically aggressive course, often accompanied by unfavorable prognostic factors, including unmutated IGHV, +12, ATM mutation, and NOTCH1 mutation. Patients with CLL/SLL with clinical suspicion of disease progression, especially those with bulky disease and PET-CT SUVmax ≥5, should undergo biopsy at the site of highest metabolic uptake to establish a definitive pathological diagnosis.
Humans
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Middle Aged
;
Aged
;
Leukemia, Lymphocytic, Chronic, B-Cell/genetics*
;
Positron Emission Tomography Computed Tomography
;
Retrospective Studies
;
Biopsy
;
Disease Progression

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