1.Surveillance of schistosomiasis in Jiangsu Province from 2012 to 2024
Wei LI ; Jianfeng ZHANG ; Liang SHI ; Tao WANG ; Yun FENG ; Lu LIU ; Kun YANG
Chinese Journal of Schistosomiasis Control 2026;38(1):8-13
Objective To evaluate the effectiveness of schistosomiasis surveillance in Jiangsu Province during the stage moving from transmission control to transmission interruption, and to analyze the current risk and challenges, so as to provide the evidence for achieving the target of schistosomiasis elimination. Methods Schistosomiasis surveillance data were collected from Jiangsu Province from 2012 to 2024, and the endemic areas, Schistosoma japonicum infections in humans and livestock, Oncomelania hupensis snail distribution and implementation of integrated interventions were descriptively analyzed. In addition, the trends in areas with snails, seroprevalence of human S. japonicum infections and numbers of advanced schistosomiasis cases were assessed using a Joinpoint regression model. Results The endemic areas of schistosomiasis continued to shrink in Jiangsu Province from 2012 to 2024, with the number of schistosomiasis-eliminated counties (cities, districts) increasing from 53 (75.71%) to 63 (96.92%), and interruption of schistosomiasis transmission was achieved across the province. A total of 4 600 300 person-times were tested for serum antibodies against S. japonicum, with 28 719 person-times positive detected; and 616 500 person-times were tested S. japonicum infections among local residents in Jiangsu Province from 2012 to 2024, with only 3 egg-positives detected, and no egg-positives found since 2017. A total of 187 600 herd-times were tested for schistosomiasis in livestock, and no S. japonicum infections were found. O. hupensis snail survey was performed covering 1 018 408.97 hm2, and a total of 35 556.35 hm2 was found with snail-infested habitats, including 174.40 hm2 of emerging snail-infested habitats. A total of 1 102 800 O. hupensis snails were identified for S. japonicum infections, and no infections were found. The areas of snail-infested habitats appeared a tendency towards a rise in Jiangsu Province from 2019 to 2023 (APC = 23.67%, P < 0.05), and the actual areas of snail-infested habitats appeared a tendency towards a decline from 2012 to 2015 (APC = −22.77%, P < 0.05), and towards a rise from 2015 to 2023 (APC = 9.76%, P < 0.01). The seroprevalence of anti-S. japonicum antibodies appeared a tendency towards a decline among residents in Jiangsu Province from 2017 to 2023 (APC = −14.92%, P < 0.01). In addition, the number of newly diagnosed advanced schistosomiasis cases appeared a tendency towards a decline from 2012 to 2024 (APC = −12.02%, P < 0.01), and the numbers of advanced schistosomiasis patients requiring treatment showed a tendency towards a decline from 2012 to 2021 (APC = −10.56%, P < 0.01) and from 2021 to 2023 (APC = −20.06%, P < 0.01). Conclusions Great progresses had been achieved in schistosomiasis control in Jiangsu Province following transmission control, and transmission interruption had been achieved; however, there are still snail-infested habitats. High-intensity surveillance and integrated control are required to be maintained to advance the achievement of the target of schistosomiasis elimination in Jiangsu Province.
2.Research Tackling Paradigm and Technological Layout Strategies Based on Erectile Dysfunction, A Clinical Dominant Disease of Traditional Chinese Medicine
Qi ZHAO ; Yun CHEN ; Baoxing LIU ; Xuejun SHANG ; Fei SUN ; Xiaozhi ZHAO ; Zhigang WU ; Chao SUN ; Peihai ZHANG ; Wanjun CHENG ; Xing ZHOU ; Zhan QIN ; Yufeng PAN ; Weiwei TAO ; Jianhuai CHEN ; Mei MO ; Xiaoxiao ZHANG ; Xing ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):291-299
To thoroughly implement the strategic deployment outlined in the Opinions of the Central Committee of the Communist Party of China and the State Council on Promoting the Inheritance and Innovative Development of Traditional Chinese Medicine regarding research on dominant diseases of traditional Chinese medicine and to uphold the development philosophy of equal emphasis on traditional Chinese medicine and western medicine,the China Association of Chinese Medicine has fully played a leading academic role by systematically organizing and conducting a series of academic youth salons on clinical dominant diseases of traditional Chinese medicine. On September 13,2024,the 36th Youth Salon on Clinical Dominant Diseases was successfully held in Nanjing,focusing on the advantages of traditional Chinese medicine and the integrative traditional Chinese medicine and western medicine in the diagnosis and treatment of erectile dysfunction (ED). The conference brought together leading experts from traditional Chinese medicine,western medicine,and interdisciplinary fields,facilitating in-depth multidisciplinary discussions that led to key consensus on optimizing traditional Chinese medicine treatment protocols for ED,researching and developing new drugs of traditional Chinese medicine,and advancing interdisciplinary development in traditional Chinese medicine. This salon systematically sorted out the clinical strengths and distinctive features of traditional Chinese medicine in the diagnosis and treatment of ED. Based on current research foundations and clinical needs,it identified key directions for future scientific layout and scientific research tackling: (1) Standardization of syndrome differentiation system of traditional Chinese medicine for ED. (2) Optimization and standardization of intervention methods of integrated traditional Chinese medicine and western medicine. (3) High-quality clinical research guided by evidence-based medicine. (4) In-depth analysis of the pharmacological mechanisms of traditional Chinese medicine in the treatment of ED. (5) Clinical translation and application promotion of new drugs of traditional Chinese medicine. (6) Interdisciplinary integration and innovation in traditional Chinese medicine. For each research direction,key focus areas,expected objectives,and clinical value were further refined,along with the establishment of a scientifically sound priority funding level evaluation system. Therefore,building on the series of salons on the ED-focused dominant diseases of traditional Chinese medicine,this paper provides standardized guidance for clinical practice of traditional Chinese medicine in ED management,effectively contributing to the high-quality development of traditional Chinese medicine. It serves as a valuable reference for national scientific and technological strategic layout, research and development decision-making in new drugs of traditional Chinese medicine,research topic planning,and clinical guideline formulation.
3.Effect of Zhengan Xifengtang on Intestinal Mucosal Barrier in Spontaneously Hypertensive Rats via FXR-MLCK/p-MLC Pathway
Meilong SI ; Hua JIN ; Yu WANG ; Qiuju ZHANG ; Tao LIU ; Yun YONG ; Xuan BAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(21):1-10
ObjectiveTo investigate the repair effects of Zhengan Xifengtang on intestinal mucosal barrier in spontaneously hypertensive rats (SHRs) through the pathways of farnesoid X receptor (FXR)-myosin light chain kinase (MLCK)/phosphorylated myosin light chain (p-MLC) and its potential mechanism. MethodsForty 10-week-old male SHRs were randomly divided into model group, amlodipine besylate group (0.5 mg·kg-1·d-1), and high, middle and low dose groups of Zhengan Xifengtang (34.5, 17.25, 8.625 g·kg-1·d-1); eight age-matched male Wistar-Kyoto (WKY) rats of the same origin served as the normal control group. Drug intervention was carried out for 8 weeks, and the blood pressure of the rats was measured regularly. After the intervention, the rats were euthanized to collect tissue samples. Hematoxylin and eosin (HE) staining and Alcian blue-periodic acid-Schiff (AB-PAS) staining were used to evaluate the pathological morphology and the number of goblet cells in colonic mucosa. Enzyme-linked immunosorbent assay (ELISA) was employed to measure plasma lipopolysaccharide (LPS) and diamine oxidase (DAO) levels in each group of rats. Immunofluorescence (IF) assay was used to detect the relative fluorescence intensity of FXR and p-MLC in colonic tissue. Western blot was used to detect the zonula occludens-1 (ZO-1), Occludin, Claudin-1, junctional adhesion molecule-1 (JAM-1), mucin-2 (MUC2), FXR, MLCK, and p-MLC protein expression in colon tissue. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to detect mRNA expression levels of ZO-1, Occludin, Claudin-1, JAM-1, MUC2, FXR, MLCK, and MLC in colon tissue. ResultsCompared with the normal group, the blood pressure in the model group increased significantly (P<0.01), the colonic mucosal structure was seriously damaged, and the number of goblet cells decreased significantly. The contents of LPS and DAO increased significantly (P<0.01), the relative fluorescence intensity of FXR in colon decreased, while that of p-MLC increased (P<0.01). The protein and mRNA expressions of ZO-1, Claudin-1, JAM-1, Occludin, MUC2 and FXR decreased significantly (P<0.01), whereas the protein expression of MLCK and p-MLC increased significantly (P<0.01). Additionally, the mRNA expression of MLCK and MLC increased significantly (P<0.01). Compared with the model group, the Zhengan Xifengtang groups at various dosages and the amlodipine besylate group showed significantly reduced blood pressure (P<0.01). The damage of colonic mucosa structure was alleviated, the infiltration of inflammatory cells decreased, and the number of goblet cells increased. LPS and DAO levels were decreased (P<0.05, P<0.01). In the colon, the relative fluorescence intensity of FXR increased, while that of p-MLC decreased (P<0.05, P<0.01). The protein and mRNA expression levels of ZO-1, Claudin-1, JAM-1, Occludin, and FXR increased significantly (P<0.05, P<0.01), while the protein expression of MLCK and p-MLC decreased significantly (P<0.05, P<0.01). Furthermore, the mRNA expression of MLCK and MLC decreased significantly (P<0.05, P<0.01), and the protein expression of MUC2 increased significantly (P<0.05, P<0.01). The expression of MUC2 mRNA in each dose group of Zhengan Xifengtang increased significantly (P<0.05, P<0.01). ConclusionZhengan Xifengtang may regulate the FXR-MLCK/p-MLC signaling pathway and enhance the expression of tight junction protein, thereby reducing intestinal mucosal permeability, promoting mucosal barrier repair, decreasing LPS release into the blood, and ultimately lowering blood pressure.
4.Effect of Zhengan Xifengtang on Intestinal Mucosal Barrier in Spontaneously Hypertensive Rats via FXR-MLCK/p-MLC Pathway
Meilong SI ; Hua JIN ; Yu WANG ; Qiuju ZHANG ; Tao LIU ; Yun YONG ; Xuan BAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(21):1-10
ObjectiveTo investigate the repair effects of Zhengan Xifengtang on intestinal mucosal barrier in spontaneously hypertensive rats (SHRs) through the pathways of farnesoid X receptor (FXR)-myosin light chain kinase (MLCK)/phosphorylated myosin light chain (p-MLC) and its potential mechanism. MethodsForty 10-week-old male SHRs were randomly divided into model group, amlodipine besylate group (0.5 mg·kg-1·d-1), and high, middle and low dose groups of Zhengan Xifengtang (34.5, 17.25, 8.625 g·kg-1·d-1); eight age-matched male Wistar-Kyoto (WKY) rats of the same origin served as the normal control group. Drug intervention was carried out for 8 weeks, and the blood pressure of the rats was measured regularly. After the intervention, the rats were euthanized to collect tissue samples. Hematoxylin and eosin (HE) staining and Alcian blue-periodic acid-Schiff (AB-PAS) staining were used to evaluate the pathological morphology and the number of goblet cells in colonic mucosa. Enzyme-linked immunosorbent assay (ELISA) was employed to measure plasma lipopolysaccharide (LPS) and diamine oxidase (DAO) levels in each group of rats. Immunofluorescence (IF) assay was used to detect the relative fluorescence intensity of FXR and p-MLC in colonic tissue. Western blot was used to detect the zonula occludens-1 (ZO-1), Occludin, Claudin-1, junctional adhesion molecule-1 (JAM-1), mucin-2 (MUC2), FXR, MLCK, and p-MLC protein expression in colon tissue. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to detect mRNA expression levels of ZO-1, Occludin, Claudin-1, JAM-1, MUC2, FXR, MLCK, and MLC in colon tissue. ResultsCompared with the normal group, the blood pressure in the model group increased significantly (P<0.01), the colonic mucosal structure was seriously damaged, and the number of goblet cells decreased significantly. The contents of LPS and DAO increased significantly (P<0.01), the relative fluorescence intensity of FXR in colon decreased, while that of p-MLC increased (P<0.01). The protein and mRNA expressions of ZO-1, Claudin-1, JAM-1, Occludin, MUC2 and FXR decreased significantly (P<0.01), whereas the protein expression of MLCK and p-MLC increased significantly (P<0.01). Additionally, the mRNA expression of MLCK and MLC increased significantly (P<0.01). Compared with the model group, the Zhengan Xifengtang groups at various dosages and the amlodipine besylate group showed significantly reduced blood pressure (P<0.01). The damage of colonic mucosa structure was alleviated, the infiltration of inflammatory cells decreased, and the number of goblet cells increased. LPS and DAO levels were decreased (P<0.05, P<0.01). In the colon, the relative fluorescence intensity of FXR increased, while that of p-MLC decreased (P<0.05, P<0.01). The protein and mRNA expression levels of ZO-1, Claudin-1, JAM-1, Occludin, and FXR increased significantly (P<0.05, P<0.01), while the protein expression of MLCK and p-MLC decreased significantly (P<0.05, P<0.01). Furthermore, the mRNA expression of MLCK and MLC decreased significantly (P<0.05, P<0.01), and the protein expression of MUC2 increased significantly (P<0.05, P<0.01). The expression of MUC2 mRNA in each dose group of Zhengan Xifengtang increased significantly (P<0.05, P<0.01). ConclusionZhengan Xifengtang may regulate the FXR-MLCK/p-MLC signaling pathway and enhance the expression of tight junction protein, thereby reducing intestinal mucosal permeability, promoting mucosal barrier repair, decreasing LPS release into the blood, and ultimately lowering blood pressure.
5.Correlation between the expression of serum miR-1298-5p,miR-625-5p and miR-155 and the degree of Helicobacter pylori infection in elderly gastric cancer patients
Chunli TANG ; Shujuan FAN ; Sheng TAO ; Jianning LIU ; Feng SU ; Caiyun YUAN ; Meiling ZHU ; Ruimei ZHONG ; JiaoJiao CAO ; Yun WANG
International Journal of Laboratory Medicine 2025;46(2):151-156
Objective To explore the correlation between the expression of serum microRNA(miR)-1298-5p,miR-625-5p,and miR-155 with the degree of Helicobacter pylori(Hp)infection in elderly gastric cancer patients.Methods From January 2021 to November 2023,120 elderly patients with gastric cancer admitted to the hospital from January 2021 to November 2023 were selected as the gastric cancer group,and 130 non-gas-tric cancer patients who underwent gastroscopy were selected as the control group.The expression levels of miR-1298-5p,miR-625-5p and miR-155 in serum were detected by fluorescence quantitative PCR(qPCR).Car-bon 13 urea breath test was used to detect the positive rate of Hp infection in two groups,and the degree of Hp infection in elderly patients with gastric cancer were evaluated.Receiver operating characteristic(ROC)curve was applied to analyze the diagnostic value of serum miR-1298-5p,miR-625-5p,and miR-155 expression levels for Hp infection in elderly gastric cancer patients.Pearson method was applied to analyze the correlation between serum miR-1298-5p,miR-625-5p,miR-155 expression and positive rate of Hp infection in elderly gas-tric cancer patients.Results Compared with the control group,the expression levels of miR-1298-5p and miR-625-5p in serum of gastric cancer group decreased(P<0.05),while the positive rate of Hp infection and the expression level of serum miR-155 increased(P<0.05).The expression levels of serum miR-1298-5p and miR-625-5p in elderly gastric cancer patients with Hp grade Ⅰ,Ⅱ,and Ⅲ infection were lower than those without Hp infection,while the expression level of miR-155 was higher(P<0.05).Patients with poor differ-entiation,lymph node metastasis,and TNM stage Ⅲ-Ⅳ had lower expressions of serum miR-1298-5p and miR-625-5p(P<0.05),and higher expression of miR-155(P<0.05)than those with moderate-high differen-tiation,no lymph node metastasis,and TNM stage Ⅰ-Ⅱ.The expression levels of serum miR-1298-5p and miR-625-5p were negatively correlated with the positive rate of Hp infection in elderly patients with gastric cancer(r=-0.443,-0.386,both P<0.001),and the expression levels of serum miR-155 were positively correlated with the positive rate of Hp infection(r=0.525,P<0.001).The area under the curve(AUC)of serum miR-1298-5p,miR-625-5p and miR-155 combined diagnosis of Hp infection in elderly gastric cancer pa-tients was higher than that of single diagnosis(P<0.05).Conclusion The expression levels of miR-1298-5p and miR-625-5p in serum of elderly gastric cancer patients with Hp infection decrease,while the expression level of miR-155 increases.These three factors are related to the degree of Hp infection and have good diag-nostic value for the occurrence of Hp infection.
6.Discriminating Tumor Deposits From Metastatic Lymph Nodes in Rectal Cancer: A Pilot Study Utilizing Dynamic Contrast-Enhanced MRI
Xue-han WU ; Yu-tao QUE ; Xin-yue YANG ; Zi-qiang WEN ; Yu-ru MA ; Zhi-wen ZHANG ; Quan-meng LIU ; Wen-jie FAN ; Li DING ; Yue-jiao LANG ; Yun-zhu WU ; Jian-peng YUAN ; Shen-ping YU ; Yi-yan LIU ; Yan CHEN
Korean Journal of Radiology 2025;26(5):400-410
Objective:
To evaluate the feasibility of dynamic contrast-enhanced MRI (DCE-MRI) in differentiating tumor deposits (TDs) from metastatic lymph nodes (MLNs) in rectal cancer.
Materials and Methods:
A retrospective analysis was conducted on 70 patients with rectal cancer, including 168 lesions (70 TDs and 98 MLNs confirmed by histopathology), who underwent pretreatment MRI and subsequent surgery between March 2019 and December 2022. The morphological characteristics of TDs and MLNs, along with quantitative parameters derived from DCE-MRI (K trans , kep, and v e) and DWI (ADCmin, ADCmax, and ADCmean), were analyzed and compared between the two groups.Multivariable binary logistic regression and receiver operating characteristic (ROC) curve analyses were performed to assess the diagnostic performance of significant individual quantitative parameters and combined parameters in distinguishing TDs from MLNs.
Results:
All morphological features, including size, shape, border, and signal intensity, as well as all DCE-MRI parameters showed significant differences between TDs and MLNs (all P < 0.05). However, ADC values did not demonstrate significant differences (all P > 0.05). Among the single quantitative parameters, v e had the highest diagnostic accuracy, with an area under the ROC curve (AUC) of 0.772 for distinguishing TDs from MLNs. A multivariable logistic regression model incorporating short axis, border, v e, and ADC mean improved diagnostic performance, achieving an AUC of 0.833 (P = 0.027).
Conclusion
The combination of morphological features, DCE-MRI parameters, and ADC values can effectively aid in the preoperative differentiation of TDs from MLNs in rectal cancer.
7.Effect of m6A demethylase ALKBH5 on proliferation and migration of cardiac fibroblasts induced by high glucose
Zhi-yan LIU ; Li-chan LIN ; Zhen-yu LIU ; Ji-ming SHA ; Peng LIU ; Sui MAO ; Yun-sen ZHANG ; Rui LI ; Ye ZHANG ; Hui TAO
Chinese Pharmacological Bulletin 2025;41(2):235-241
Aim To investigate the effect of N6-methy-ladenosine(m6A)demethylase ALKBH5 on the prolif-eration and migration of cardiac fibroblasts(CFs)in-duced by high glucose.Methods Primary CFs were isolated from neonatal mouse hearts and identified u-sing optical and confocal microscopy.Cell activation was induced using a high-glucose medium(33 mmol·L-1 glucose).An ALKBH5 overexpression model was established by transfecting CFs with an ALKBH5 ex-pression vector in a high-glucose medium.The expres-sion of ALKBH5 in CFs was assessed through immuno-fluorescence staining,Western blot and RT-qPCR.Changes in m6A levels were evaluated using Dot blot a-nalysis.Additionally,Alterations in the expression of proliferating cell nuclear antigen(PCNA)and collagenⅠ,a pivotal fibrosis indicator,were measured using Western blot.The proliferation and migration ability of CFs were assessed through EdU staining and Transwell migration assay,respectively.Results Following treatment with high glucose,the expression of ALKBH5 in CFs notably decreased,while m6A level increased.This was accompanied by a significant increase in the expression of the proliferation marker PCNA and the fi-brosis marker collagen Ⅰ.Additionally,there was a sig-nificant improvement in the ability of proliferation and migration.Overexpression of ALKBH5 resulted in a significant decrease in the expressions of PCNA and collagen Ⅰ,leading to the inhibition of both proliferation and migration in CFs.Conclusion Overexpression of ALKBH5 suppresses the expression of PCNA and colla-gen Ⅰ,consequently reducing the proliferation and mi-gration of CFs,potentially through m6A methylation modification.
8.Moxibustion combined with low-dose tadalafil for diabetes mellitus-induced erectile dysfunction:A prospective,single-center,three-arm randomized controlled trial
Tao LIU ; Zhao-xu YANG ; Yan XU ; Qi ZHAO ; Xue LIU ; Xin-fei HUANG ; Zhi-xing SUN ; Yun CHEN ; Jian-huai CHEN
National Journal of Andrology 2025;31(1):55-60
Objective:To investigate the clinical efficacy of moxibustion(Mox)combined with low-dose tadalafil(TAD)in the treatment of diabetes mellitus-induced erectile dysfunction(DMED)with the syndrome of Qi deficiency and blood stasis.Meth-ods:According to the inclusion and exclusion criteria,we selected 90 patients with DMED for this trial and equally randomized them into a Mox,a TAD,and a Mox combined with TAD(Mox+TAD)group to be treated by mild Mox applied to the acupoints Zusanli,Sanyinjiao and Yinlingquan qd alt,oral medication with low-dose TAD at 5 mg per dose qd,and combination of the above two thera-pies,respectively,all for 4 weeks.We obtained from the patients their IIEF-5 scores,traditional Chinese medicine(TCM)symptoms scores,Erectile Hardness Scale(EHS)scores,corpus cavernosal hemodynamic indexes,and the peak systolic velocity(PSV),end diastolic velocity(EDV)and resistance index(RI)of the corpus cavernosal arteries before and after treatment,and compared them among the three groups.Results:The total effectiveness rate was significantly higher in the Mox+TAD(90.0%)than in the Mox(46.7%)and TAD groups(60.0%)(P<0.05).Compared with the baseline,the IIEF-5 and EHS scores were increased,while the TCM symptoms scores decreased in all the three groups after treatment,more significantly in the Mox+TAD group than in the other two(P<0.05).And the PSV and RI were remarkably increased,while the EDV decreased(P<0.05)in all the three groups(P<0.05)after treatment,with PSV even higher in the Mox+TAD than in the Mox and TAD groups(P<0.05).Conclusion:Moxi-bustion combined with tadalafil has a definite efficacy and safety for the treatment of DMED,which can effectively improve the erectile function of the patients by increasing penile blood supply,benefiting qi and activating blood circulation.
9.Evidence-based guideline for diagnosis and early fixation of severe open tibiofibular fractures (version 2025)
Yongjun RUI ; Yongqing XU ; Qingtang ZHU ; Xin WANG ; Zhao XIE ; Shanlin CHEN ; Jingyi MI ; Xianyou ZHENG ; Juyu TANG ; Xiaoheng DING ; Aixi YU ; Tao SONG ; Jianxi HOU ; Jian QI ; Xinyu FAN ; Jun FEI ; Lin GUO ; Xingwen HAN ; Weixu LI ; Aiguo WANG ; Yun XIE ; Tao XING ; Meng LI ; Baoqing YU ; Yan ZHUANG ; Xiaoqing HE ; Tao SUN ; Pengcheng LI ; Jihui JU ; Hongxiang ZHOU ; Haidong REN ; Guangyue ZHAO ; Gang ZHAO ; Yongwei WU ; Jun LIU ; Yunhong MA ; Yapeng WANG
Chinese Journal of Trauma 2025;41(11):1021-1034
Severe open tibiofibular fractures account for approximately 28.1% of all open fractures. Among them, Gustilo-Anderson type IIIB/C fractures present significant clinical challenges due to associated bone and soft tissue defects, high infection rates, and risk of amputation. Inadequate preoperative assessment may lead to suboptimal emergency surgical planning or intraoperative complications. Historically, external fixation was often preferred, but this approach has been associated with limitations such as restricted joint mobility, delayed bone union, joint stiffness, and disuse osteoporosis, resulting in poor functional recovery. With advancements of debridement techniques, standardization of antibiotic use, and popularization of early soft tissue coverage, early internal fixation has gained broader acceptance. Nevertheless, controversies persist regarding the choice of fixation method, timing of definitive fixation, use of reamed versus unreamed intramedullary nailing, and necessity of fibular fixation. To standardize the diagnosis and early management of severe open tibiofibular fractures, reduce complication rates, and improve functional recovery, the Society of Microsurgery of the Chinese Medical Association organized a panel of domestic experts to develop the Evidence-based guideline for the diagnosis and early fixation of severe open tibiofibular fractures ( version 2025), using evidence-based methodology. The guidelines provided 12 recommendations covering diagnostic and early fixation strategies of severe open tibiofibular fractures, aiming to provide clinicians with scientifically grounded and standardized guidance.
10.Clinical phenotype and genotype analysis of retinitis pigmentosa sine pigmento caused by BBS gene mutations
Zijie CHEN ; Yufei TAO ; Yun WANG ; Qinyu HUANG ; Mingmin YANG ; Xuyang LIU ; Ning FAN
Chinese Journal of Ocular Fundus Diseases 2025;41(3):178-185
Objective:To observe and analyze the pathogenic genes and clinical phenotype characteristics of retinitis pigmentosa sinepigmento(RPSP).Methods:A retrospective clinical study. Two patients (proband) and five family members from two RPSP families admitted to Xiamen Eye Center of Xiamen University in December 2022 and Shenzhen Eye Hospital in July 2023 were included in the study. Two families have no blood relationship and were both Han Chinese. Detailed ocular and systemic medical history and specialized examinations were performed for all members, including color fundus photography, fundus autofluorescence (FAF), and full field electroretinogram (ff-ERG) examination. The peripheral venous blood of all members was collected, and genomic DNA was extracted. Pathogenic genes and their loci were screened using whole exome high-throughput sequencing technology. Sanger sequencing was used to verify the pathogenic genes in the two pedigrees. The pathogenicity of candidate variants was evaluated according to the American Society for American College of Medical Genetics and Genomics (ACMG) classification criteria and guidelines for genetic variants.Results:The two probands were male, aged 9 and 7 years, respectively. The main complaint was poor binocular vision for 6 and 3 years and poor treatment effect of amblyopia. The proband (Ⅱ2) in family 1 had a pale red color on the optic disc, with leopard-like changes in the posterior pole and thinner retinal arteries. FAF showed mottled fluorescence attenuation outside the macular vascular arch. There was no significant waveform in both bright and dark visual responses of ff-ERG. He also had 6-toed deformity of both feet, renal cysts, and a slightly overweight body. The clinical diagnosis was non-pigmentary retinitis pigmentosa. The proband of family 2 (Ⅱ1) had poor binocular vision in a dark environment and had atrophy lesions on the nasal side of the optic disc and leopard print like changes in the fundus. FAF showed uneven enhancement in the fovea. ff-ERG showed severe abnormalities in dark and light response, with significant decrease and delay in b-wave amplitude and latency. He had no other systemic abnormalities. The clinical diagnosis was binocular RPSP. There were no abnormal ocular and systemic manifestations in the two family members. Gene sequencing revealed a homozygous mutation (c.534+1G>T) of BBS2 gene, which was inherited from the mother and father respectively. Based on clinical manifestations and genetic testing results, the final diagnosis was Bardet Biedl syndrome. The genetic sequencing results confirmed a novel compound heterozygous mutation (c.950T>G: p. Leu317Arg missense mutation and c.849+1G>C splicing mutation) of BBS7 gene. His father (Ⅰ1) and mother (Ⅰ2) carried M1 heterozygous variants. Combined with the clinical manifestations and genetic testing results, the final diagnosis was Bardet-Biedl syndrome (BBS). Family 2 proband (Ⅱ1) carried the BBS7 gene C.950T>G (p.Leu317Arg) (M2) missense variation and C.849 +1G>C (M3) splice site variation. His father (Ⅰ1) and mother (Ⅰ2) carried M3 shear site variation and M2 missense variation, respectively. The two families all fit the autosomal recessive inheritance pattern, and the genotype and clinical phenotype were coseparated. According to ACMG guidelines, M1, M2 and M3 were all identified as possible pathogenic variants. Conclusions:BBS2 gene M1 homozygous variation and BBS7 gene M2, M3 complex heterozygous variation are the possible pathogenic genes in family 1 and family 2, respectively. Two families are affected by BBS and RPSP, respectively.

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