1.Equivalence of SYN008 versus omalizumab in patients with refractory chronic spontaneous urticaria: A multicenter, randomized, double-blind, parallel-group, active-controlled phase III study.
Jingyi LI ; Yunsheng LIANG ; Wenli FENG ; Liehua DENG ; Hong FANG ; Chao JI ; Youkun LIN ; Furen ZHANG ; Rushan XIA ; Chunlei ZHANG ; Shuping GUO ; Mao LIN ; Yanling LI ; Shoumin ZHANG ; Xiaojing KANG ; Liuqing CHEN ; Zhiqiang SONG ; Xu YAO ; Chengxin LI ; Xiuping HAN ; Guoxiang GUO ; Qing GUO ; Xinsuo DUAN ; Jie LI ; Juan SU ; Shanshan LI ; Qing SUN ; Juan TAO ; Yangfeng DING ; Danqi DENG ; Fuqiu LI ; Haiyun SUO ; Shunquan WU ; Jingbo QIU ; Hongmei LUO ; Linfeng LI ; Ruoyu LI
Chinese Medical Journal 2025;138(16):2040-2042
2.Expert consensus on the clinical strategies for orthodontic treatment with clear aligners.
Yan WANG ; Hu LONG ; Zhihe ZHAO ; Ding BAI ; Xianglong HAN ; Jun WANG ; Bing FANG ; Zuolin JIN ; Hong HE ; Yuxin BAI ; Weiran LI ; Min HU ; Yanheng ZHOU ; Hong AI ; Yuehua LIU ; Yang CAO ; Jun LIN ; Huang LI ; Jie GUO ; Wenli LAI
International Journal of Oral Science 2025;17(1):19-19
Clear aligner treatment is a novel technique in current orthodontic practice. Distinct from traditional fixed orthodontic appliances, clear aligners have different material features and biomechanical characteristics and treatment efficiencies, presenting new clinical challenges. Therefore, a comprehensive and systematic description of the key clinical aspects of clear aligner treatment is essential to enhance treatment efficacy and facilitate the advancement and wide adoption of this new technique. This expert consensus discusses case selection and grading of treatment difficulty, principle of clear aligner therapy, clinical procedures and potential complications, which are crucial to the clinical success of clear aligner treatment.
Humans
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Consensus
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Orthodontic Appliance Design
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Orthodontic Appliances, Removable
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Tooth Movement Techniques/methods*
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Malocclusion/therapy*
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Orthodontics, Corrective/instrumentation*
3.Effects of autophagy on myocardial injury in rats with common bile duct ligation.
Xiaoyu WANG ; Lin LYU ; Aijie LIU ; Lei LUN ; Wenli BI ; He DONG
Chinese Critical Care Medicine 2025;37(1):59-64
OBJECTIVE:
To investigate the impact of autophagy on cardiac tissue injury following common bile duct ligation (CBDL) in rats.
METHODS:
Twenty-four SPF grade healthy adult male Sprague-Dawley (SD) rats were randomly divided into four groups, with 6 rats in each group. The sham-operated (Sham) group underwent only dissection of the common bile duct without ligation. The CBDL group underwent CBDL to simulate jaundice-induced myocardial injury. The autophagy inhibitor 3-methyladenine (3-MA)+CBDL group was intraperitoneally injected with 15 mg/kg 3-MA 2 hours before modeling, and then injected once every other day. The CBDL+autophagy enhancer rapamycin (Rapa) group was intraperitoneally injected with Rapa 1 mg/kg 0.5 hour after modeling, and then injected once every other day. The rats in each group were sacrificed 2 weeks after surgery, and blood was taken from the inferior vena cava. Serum total bilirubin (TBil), alanine transaminase (ALT), aspartate transaminase (AST), lactate dehydrogenase (LDH), and MB isoenzyme of creatine kinase (CK-MB) were detected by using a fully automated animal biochemical analyzer. Serum oxidative stress marker superoxide dismutase (SOD) activity and malondialdehyde (MDA) content were detected by colorimetric assay. The heart tissues of rats were taken and pathological changes were observed under a light microscope after hematoxylin-eosin (HE) staining. Transmission electron microscope was used to observe autophagosomes after double staining with uranyl acetate and lead citrate. The expressions of autophagy-related proteins were detected using Western blotting.
RESULTS:
Compared with the Sham group, the serum SOD activity of rats in the CBDL group was significantly decreased, while the serum MDA, TBil, ALT, AST, LDH, and CK-MB were significantly increased; the expressions of autophagy-related proteins Beclin-1 and microtubule-associated protein 1 light chain 3-II/I (LC3-II/I) were significantly increased, and p62 protein expression was significantly decreased. Autophagosomes were seen under electron microscopy in the CBDL group, and cardiac histopathological morphology showed focal necrosis in the myocardium as well as infiltration of inflammatory cells, dilatation of small interstitial blood vessels, and myocardial fiber degeneration. Compared with the CBDL group, cardiac tissue injury in rats was attenuated by pretreatment with the autophagy inhibitor 3-MA, with a decrease in inflammatory cell infiltration in myocardial tissue, a reduction in interstitial vasodilatation, and a decrease in the area of myocardial fibrosis; a decrease in the number of autophagosomes by electron microscopy; and a further rise in the viability of serum TBil, ALT, and AST [TBil (μmol/L): 184.40±6.74 vs. 120.70±16.93, ALT (U/L): 501.10±62.18 vs. 178.80±22.30, AST (U/L): 806.50±76.92 vs. 275.50±55.81, all P < 0.01], as well as a decrease in the levels of serum SOD, MDA, LDH, and CK-MB [SOD (kU/L): 85.00±5.29 vs. 107.50±7.86, MDA (μmol/L): 10.72±0.93 vs. 15.06±1.88, LDH (U/L): 387.40±119.50 vs. 831.30±84.35, CK-MB (U/L): 320.10±14.04 vs. 814.70±75.66, all P < 0.05]. The expressions of the autophagy-related proteins Beclin-1 and LC3-II/I in cardiac tissues were significantly decreased [Beclin-1 protein (Beclin-1/GAPDH): 0.67±0.04 vs. 0.89±0.01, LC3-II/I ratio: 0.93±0.03 vs. 1.09±0.01, both P < 0.01], and p62 protein expression was significantly increased (p62/GAPDH: 0.99±0.01 vs. 0.60±0.01, P < 0.01). In contrast, compared with the CBDL group, after administration of the autophagy enhancer Rapa, the rats showed increased cardiac tissue injury, increased inflammatory cell infiltration in myocardial tissues, increased interstitial vasodilatation, and increased area of myocardial fibrosis; an increase in autophagosomes was seen by electron microscopy; the change tendency of serum biochemical indicators and proteins in myocardial tissues were opposite with autophagy inhibition group with a decrease in serum TBil, ALT, and AST [TBil (μmol/L): 22.00±3.21 vs. 120.70±16.93, ALT (U/L): 72.13±5.97 vs. 178.80±22.30, AST (U/L): 135.20±12.95 vs. 275.50±55.81, all P < 0.05], as well as a increase in the levels of serum SOD, MDA, LDH, and CK-MB [SOD (kU/L): 208.00±2.65 vs. 107.50±7.86, MDA (μmol/L): 20.38±0.40 vs. 15.06±1.88, LDH (U/L): 1 268.00±210.90 vs. 831.30±84.35, CK-MB (U/L): 1 150.00±158.70 vs. 814.70±75.66, all P < 0.05]. The protein expressions of Beclin-1 and LC3-II/I in cardiac tissues were significantly increased [Beclin-1 protein (Beclin-1/GAPDH): 0.96±0.01 vs. 0.89±0.01, LC3-II/I ratio: 1.19±0.01 vs. 1.09±0.01, both P < 0.05], and p62 protein expression was significantly decreased (p62/GAPDH: 0.19±0.02 vs. 0.60±0.01, P < 0.01).
CONCLUSIONS
Activation of autophagy in CBDL rats led to myocardial tissue injury and reduced cardiac function. Inhibition of autophagy improved cardiac tissue injury in CBDL rats, while increasing autophagy exacerbated myocardial tissue injury.
Animals
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Autophagy
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Rats, Sprague-Dawley
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Male
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Ligation
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Rats
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Common Bile Duct/surgery*
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Myocardium/pathology*
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Adenine/pharmacology*
4.Ultrasound imaging manifestations of idiopathic uveal effusion syndrome
Lin SHEN ; Zhijun SHEN ; Wenli YANG ; Hong WANG ; Dongjun LI ; Ziyang WANG ; Wei CHEN ; Qi ZHAO ; Yifeng LI ; Rui CUI ; Qian LIU
Chinese Journal of Ocular Fundus Diseases 2025;41(5):381-385
Objective:To observe the ultrasonographic features of idiopathic uveal effusion syndrome (IUES).Methods:A retrospective controlled study. From January 2012 to December 2023, 13 patients with IUES (26 eyes) diagnosed by ophthalmology examination in Department of Ophthalmonogy of Beijing Tongren Hospital (IUES group) and 22 healthy people with 30 eyes (control group) were included in the study. Both eyes of all participants were examined by color Doppler ultrasound (CDU) and ultrasonic biomicroscopy (UBM). The thickness of the ocular wall at 300 μm on the temporal side of the optic disc was measured by CDU. UBM was used to measure the thickness of the nasal and temporal scleral processes. Corneal thickness (CT), anterior chamber depth (AD), lens thickness (LT) and axial length (AL) were measured by A-mode ultrasound. There were no significant differences in age ( t=0.842), sex component ratio ( χ2=0.540), eye difference ( χ2=0.108) and AL ( t=0.831) between IUES group and control group ( P>0.05). The CDU and UBM imaging features and biometrics of IUES affected eyes were observed. Independent sample t test was used for comparison between groups. Results:CDU examination results showed that in 26 eyes of IUES group, choroidal detachment occurred in 20 eyes (76.9%, 20/26), which showed arc-shaped band echo connected with peripheral and equatorial eye wall echo, with uniform low echo area below, and blood flow signal could be seen on the band echo. The echo thickened and decreased in 4 eyes (15.3%, 4/26). Nine eyes (33.3%, 9/26) were accompanied by retinal detachment, which showed that the posterior pole vitreous echo was connected to the optic disc echo, and the blood flow signal was seen on the ribbon echo. UBM results showed ciliary detachment in 22 eyes (84.7%, 22/26), showing a spongy thickening of the ciliary body with interlamellar echo separation and an echoless area between the sclera. Ciliary body echo thickened and decreased in 2 eyes (7.7%, 2/26). Shallow space between ciliary body and sclera was observed in 2 eyes (7.7%, 2/26). Compared with the control group, CT ( Z=2.054), LT ( Z=1.867), scleral thickness ( Z=2.536) and ocular wall thickness ( Z=2.094) were thickened in IUES group, and AD ( Z=1.888) were decreased, with statistical significance ( P<0.05). Conclusions:The CDU of IUES is characterized by a thickened echo of the ocular wall and a uniform low echo area under the detached choroid. UBM is characterized by a spongy thickening of the ciliary body echo with interlaminar echo separation.
5.Analysis of color Doppler flow imaging characteristics of vitreoretinal lymphoma
Ziyang WANG ; Wenli YANG ; Dongjun LI ; Wei CHEN ; Lin SHEN ; Yifeng LI ; Rui CUI ; Qian LIU ; Wenbin WEI
Chinese Journal of Ocular Fundus Diseases 2025;41(9):679-683
Objective:To observe the color Doppler flow imaging (CDFI) features of vitreoretinal lymphoma (VRL).Methods:Retrospective case series. From January 2022 to December 2024, 71 eyes of 42 patients diagnosed with VRL at the Eye Center of Beijing Tongren Hospital were enrolled. Among them, 17 were male and 25 female; 29 had bilateral and 13 unilateral involvement. Age ranged 17-78 years (median 59 years). Eleven cases had histopathologic confirmation and 31 were clinically diagnosed. All patients underwent CDFI and optical coherence tomography (OCT). CDFI findings were analyzed, noting the presence or absence of vitreous opacities (centrifugal distribution), posterior vitreous detachment (PVD), retinal detachment, and retinal elevated lesions. With Doppler overlay, blood flow within retinal lesions was assessed. The χ 2 test was used to compare the detection rates of retinal lesions by CDFI and OCT, while Cohen’s Kappa assessed agreement in identifying the depth of lymphoma cell infiltration. Results:Among 71 eyes, vitreous opacity occurred in 66 eyes (93.0%, 66/71), of which 40 eyes (60.6%, 40/66) showed centrifugal opacity. 58 eyes (81.7%, 58/71) had posterior vitreous detachment. Retinal detachment occurred in 7 eyes (9.9%, 7/71). Retinal occupying lesions occurred in 23 eyes (32.4%, 23/61), of which 15 eyes (65.2%, 15/23) showed blood flow signals on the surface of the lesions but no blood flow signals inside the lesions by CDFI, and OCT showed that tumor cells gathered under the retinal pigment epithelium. CDFI showed blood flow signals inside the lesions in 8 eyes (34.8%, 8/23), and OCT showed that tumor cells gathered between retinal neuroepithelial layers. The lesion detection rate of OCT (69.6%, 16/23) was significantly lower than that of CDFI (100.0%, 23/23) ( χ 2= 6.066, P=0.014). OCT and CDFI showed perfect agreement in determining the depth of tumor cell infiltration (Kappa=1.0). Conclusions:The ultrasonographic manifestations of VRL include vitreous opacity, PVD, and some retinal occupying lesions. Vitreous opacity often presents a characteristic centrifugal distribution. By observing whether there is blood flow signal in retinopathy using Doppler, the level of lymphoma cell infiltration can be suggested.
6.Prevention and treatment of acute radiation-induced myocardial injury by the preparation of Abelmoschus manihot(L.)Medik(Jiahua Tablet)
Wenli YANG ; Tong BAO ; Xin LIN ; Ruge NIU ; Zhongchi XU ; Yunhe ZHAO
The Journal of Practical Medicine 2025;41(17):2631-2636
Objective To investigate the protective effects and potential mechanisms of the preparation of Abelmoschus manihot(L.)Medik(Jiahua Tablet)against acute radiation-induced myocardial injury,based on myo-cardial injury markers(sST2,cTnI)and oxidative stress damage-related indicators(SOD,MDA),and to provide new avenues for the prevention and treatment of radiation-induced heart disease(RIHD).Methods Sixty-nine patients with thoracic malignant tumor who received radiotherapy at the department of radiation oncology in Hospital Affiliated to Nanjing University of Chinese Medicine from December 2023 to November 2024 were enrolled in the study.Participants were randomly divided into control group(n=38)and observation group(n=31).The control group received standard radiotherapy in conjunction with conventional medications for RIHD,while the observation group was additionally administered Jiahua Tablet alongside the same regimen.Both groups took medications continuously for 1 month.Changes in serum levels of sST2,cTnI,SOD,and MDA were compared between the two groups 3 days prior to radiotherapy and 7 days after radiological therapy.Results On day 7 post-radiotherapy,the levels of sST2 and cTnI in the control group were highly elevated,showing statistically significant difference(P<0.01).In contrast,the levels of sST2 and cTnI in the observation group showed only mild elevation,and no statistically significant difference was observed(P>0.05).Between-group analysis demonstrated that post-treatment sST2 and cTnI levels in the observation group were substantially lower compared to those in the control group,indicating statistically significant difference(P<0.05).After treatment,SOD level in the control group was considerably lower compared to its pre-treatment level,and marked statistical significance was observed(P<0.01).SOD level in the observation group demonstrated a downward trend compared to baseline value,indicating no statistical significance(P>0.05).Between-group analysis demonstrated that post-treatment SOD level in the observation group was substantially elevated compared to that in the control group,indicating a highly significant disparity(P<0.05).After treatment,MDA level in the control group was considerably higher compared to its pre-treatment level,and a marked statistical significance was observed(P<0.05),whereas MDA level in the observation group showed only a mild increase compared to baseline value,with no statistically significant difference(P>0.05).Between-group analysis demonstrated that post-treatment MDA level in the observation group was substantially lower compared to that in the control group,demonstrating a remarkably statistically significant difference(P<0.01).Conclusion The preparation of Abelmoschus manihot(L.)Medik(Jiahua Tablet)effectively inhibits acute radiation-induced myocardial injury,with its potential mechanism closely linked to the suppression of oxidative stress responses.
7.Comparison of two swept-source optical coherence tomography biometers for the measurement of ocular biological parameters in cataracts
Yifeng LI ; Wenli YANG ; Dongjun LI ; Ziyang WANG ; Wei CHEN ; Qi ZHAO ; Rui CUI ; Lin SHEN
Recent Advances in Ophthalmology 2025;45(6):481-485
Objective To compare the difference,agreement,and axial length measurement success rate between biometers ZW-30 and IOLMaser 700 based on swept-source optical coherence tomography for the measurement of ocular bi-ological parameters in patients with cataracts.Methods A total of 126 cataract patients(233 eyes)who were advised to undergo cataract surgery at the Department of Ophthalmology at Beijing Tongren Hospital,Capital Medical University from January to February 2024 were included in this study.Two biometers were used to measure the axial length(AL),mean keratometry(Km),anterior chamber depth(ACD),lens thickness(LT),central corneal thickness(CCT),and horizontal corneal diameter[namely,the white-to-white(WTW)distance].The axial measurement success rate of the two biometers and the difference and agreement between the parameters were calculated.Results The mean difference between ZW-30 and IOLMaster 700 was(-0.006±0.042)mm for AL,(-0.074±0.204)D for Km,(0.031±0.051)mm for ACD,(0.001±0.005)mm for CCT,and(-0.286±0.337)mm for WTW,and the differences were statistically significant(all P<0.05).The mean difference between ZW-30 and IOLMaster 700 was(0.008±0.215)mm for LT,and the difference was not statis-tically significant(t=0.579,P=0.563).The 95%limits of agreement range was between-0.011 mm and 0.000 mm for AL,between-0.474 D and 0.326 D for Km,between-0.010 mm and 0.012 mm for CCT,between-0.068 mm and 0.131 mm for ACD,between-0.116 mm and 0.159 mm for LT,and between-0.947 mm and 0.376 mm for WTW.The intra-class correlation coefficient of all measurements ranged from 0.790 to 1.000.The AL measurement success rate of IOLMaster 700 and ZW-30 was 95.3%and 95.7%,respectively.The latter had an AL measurement success rate of 98.7%after manually marking the position of the retinal identification line.Conclusion There were statistically significant differences between ZW-30 and IOLMaster 700 in the measurement of the AL,Km,ACD,and CCT,which,however,were not clinically significant.The agreement between both was good.ZW-30 had a higher AL measurement success rate,espe-cially for the manual identification function of eyes with opacified refractive media,which can further improve the AL meas-urement success rate and provide reference for clinical work.
8.Diffuse large B-cell lymphoma with pulmonary cryptococcosis: report of 1 case and review of literature
Caiqin LIN ; Suli WANG ; Shaoying PAN ; Dongsheng XIE ; Miaomiao TIAN ; Leina SONG ; Huijun LING ; Huizhen SHI ; Bin ZHU ; Zhiyong DING ; Wenli ZHAO
Journal of Leukemia & Lymphoma 2025;34(3):155-158
Objective:To improve the understanding of patients with diffuse large B-cell lymphoma (DLBCL) with pulmonary cryptococcosis.Methods:The clinical data of 1 DLBCL patient with pulmonary cryptococcosis in the Central Hospital of Fengxian District of Shanghai in May 2023 were retrospectively analyzed, and the relevant literatures were reviewed.Results:This 75-year-old female patient was asymptomatic after 2 cycles of R-CHOP chemotherapy. The high-resolution CT of lung showed that lung nodules were progressively enlarged. Antibacterial treatment was ineffective. Pulmonary cryptococcosis was confirmed by bronchoalveolar lavage fluid (BALF) targeted high-throughput sequencing (tNGS) and cryptococcus capsular antigen (CrAg) detection. The central nervous system was not involved. And the long-term adequate-dose fluconazole was prescribed for 6 months, and the treatment against lymphoma was given synchronously. The lung nodule lesions reduced after antifungal therapy for 1 month. The lung nodules disappeared after the follow-up of 6 months after completion of final chemotherapy. The evaluation of lymphoma indicated complete remission.Conclusions:Pulmonary cryptococcosis occurs insidiously and shows no specific symptoms; its imaging manifestations are variable and routine anti-infection is ineffective. Immunochemotherapy for lymphoma patients is a high-risk factor for cryptococcal infection. tNGS and CrAg testing for BALF are effective methods of the confirmed diagnosis. The early and long-term adequate-dose antifungal treatment is the key to preventing the recurrence or progression.
9.Clinical Efficacy Observation of Bushen Yiliu Formula in Treating Advanced Hormone-Sensitive Prostate Cancer Accompanied by Bone Metastasis of Kidney Deficiency Type
Zibin ZHONG ; Wenli LIN ; Wenqiang QIU ; Chiming GU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(6):1385-1393
Objective To observe the clinical efficacy of Bushen Yiliu Formula(mainly composed of Epimedii Folium,Ligustri Lucidi Fructus,Ecliptae Herba,and Paridis Rhizoma)in treating advanced hormone-sensitive prostate cancer accompanied by bone metastasis of kidney deficiency type.Methods A prospective randomized controlled trial was conducted on 45 patients with advanced hormone-sensitive prostate cancer accompanied by bone metastasis of kidney deficiency type,who received treatment at Guangdong Provincial Hospital of Chinese Medicine from January 2022 to February 2024.The patients were randomly divided into an observation group(23 cases)and a control group(22 cases).All patients received complete androgen blockade therapy combined with bone-protective therapy.Additionally,the observation group was treated with the modified Bushen Yiliu Formula for 6 months.The clinical efficacy of Bushen Yiliu Formula was evaluated with the disease control rate(DCR)and objective response rate(ORR)after 3 and 6 months of treatment,and with the changes in the TCM syndrome scores,Karnofsky Performance Status(KPS)scores,Numerical Rating Scale(NRS)pain scores,and serum levels of total prostate-specific antigen(tPSA)and alkaline phosphatase(ALP)before treatment and after 3 and 6 months of treatment.Changes in serum alanine aminotransferase(ALT),aspartate aminotransferase(AST),and creatinine(Scr)levels before treatment and after 3 and 6 months of treatment were observed to assess the clinical safety of the formula.Results(1)After 3 months of treatment,both groups had no complete remission cases.After 6 months,the observation group hand only one complete remission case.After 3 months of treatment,the ORR and DCR in the observation group were 21.74%(5/23)and 95.65%(22/23),respectively,compared to 22.73%(5/22)and 95.45%(21/22)in the control group.The intergroup comparison showed that there were no significant differences between the two groups(P>0.05).After 6 months of treatment,the ORR and DCR in the observation group were 60.87%(14/23)and 95.65%(22/23),respectively,significantly higher than those in the control group[22.73%(5/22)and 68.18%(15/22),respectively],with statistically significant differences(P<0.05).(2)After 3 and 6 months of treatment,TCM syndrome scores and NRS pain scores in both groups were significantly decreased(P<0.01),and KPS scores were significantly increased(P<0.01).Except for TCM syndrome scores after 3 months of treatment,the observation group had stronger effect on decreasing TCM syndrome scores and NRS pain scores and on increasing KPS scores after 3 and 6 months of treatment than the control group(P<0.01).(3)The serum level of tumor-related marker tPSA after 3 months of treatment,and serum tPSA and ALP levels after 6 months of treatment were significantly decreased in both groups compared to the baseline level(P<0.05 or P<0.01).The observation group had stronger effect on decreasing serum tPSA level after 3 and 6 months compared to the control group(P<0.05 or P<0.01).However,no significant differences of serum ALP level were observed between the two groups after 3 and 6 months of treatment(P>0.05).(4)Serum levels of safety indicators of ALT,AST,and Scr showed no significant changes in either group after 3 or 6 months of treatment compared to the baseline level(P>0.05).Conclusion Bushen Yiliu Formula combined with endocrine therapy exerts certain efficacy for the treatment of advanced hormone-sensitive prostate cancer accompanied by bone metastasis of kidney deficiency type.The combined therapy is effective in reducing tumor burden of bone metastases,improving objective response rates,alleviating clinical symptoms,decreasing NRS pain scores,enhancing quality of life,and effectively lowering serum tPSA and ALP levels.Its efficacy is significantly superior to endocrine therapy alone.
10.Immunological features of a patient with CHARGE syndrome caused by the CHD7 gene c.5122C>T nonsense mutation
Chenlin LI ; Xin CHEN ; Qing LIU ; Ran CHEN ; Wenli HE ; Lin TONG ; Yulin LI ; Zhengxia PAN ; Yunfei AN ; Lu ZHAO
Immunological Journal 2025;41(2):97-102,122
Objective To analyze the clinical and immunological characteristics of a rare case of CHARGE syndrome,we summarize the genotype and phenotype in the Chinese patient population,and explore the underlying immunopathogenic mechanisms.Methods Clinical data from a pediatric patient with CHARGE syndrome were collected and analyzed.A comprehensive analysis of the Chinese patient population was conducted.Gene analysis and immunological characterization were performed using flow cytometry,deep sequencing,and quantitative PCR.Results The proband was a premature female infant whose primary clinical manifestations included congenital heart disease,recurrent respiratory infections,respiratory failure,airway dysplasia,hearing impairment,and bilateral choroidal coloboma.Whole-exome sequencing revealed a de novo heterozygous nonsense mutation in the CHD7 gene,c.5122C>T(p.Gln1708Ter),classified as pathogenic according to ACMG criteria.Immunological studies indicated impaired thymic output of T cells,significant alterations in the number and proportion of CD8+T cell subsets,increased apoptosis,and defective activation and production of key effector cytokines such as IFN-γ by CD8+T cells.However,no significant abnormalities were observed in peripheral lymphocyte proliferation.Conclusion CHARGE syndrome is a rare autosomal dominant genetic disorder primarily caused by mutations in the CHD7 gene.The main clinical features include ocular defects,cardiac disease,choanal atresia/cleft lip and palate,growth retardation,gonadal hypoplasia,and ear anomalies.This case study suggests that CHARGE syndrome is associated with abnormalities in the development,apoptosis,and effector functions of immune cells.

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