1.Application and data analysis of the cardio-cerebrovascular events monitoring system in Yichang
Zhengchao FANG ; Jiajuan YANG ; Chi HU ; Chan WU ; Yaling DENG ; Zhiying YU ; Jie ZHU ; Ling ZHANG
Journal of Public Health and Preventive Medicine 2025;36(6):95-98
Objective To analyze the monitoring data of cardio-cerebrovascular diseases prevention and control system in Yichang in 2022, and to provide data support and experience for the precise prevention and treatment of cardio-cerebrovascular diseases. Methods Acute cardiovascular and cerebrovascular event data were collected from the Yichang Cardio-cerebrovascular Events Monitoring System from January 1, 2022 to December 31, 2022. Descriptive analysis was conducted for the data collected. Statistical analysis was performed using SPSS 20.0 software, and a chi-square test was used to analyze the count data. Results A total of 37,217 cases of cardio-cerebrovascular events were monitored in Yichang in 2022. The crude incidence and the standardized incidence were 983.84/100,000 and 541.55/100,000, respectively. The incidence in males was higher than females (554.93/100,000 vs 428.91/100,000,χ2 =464.52,P<0.05). The top three diseases were cerebral infarction, acute myocardial infarction, and cerebral hemorrhage. The incidence of events increased with age, and 79.80% of the cases were over 60 years old. The main onset time was from May to August. Conclusion The use of the cardio-cerebrovascular events monitoring system in Yichang and the implementation of “mandatory reporting card” monitoring can timely obtain the epidemic characteristics of the diseases, provide support for the precise formulation of prevention and control strategies and measures, reduce underreporting rates, and improve the monitoring system, which is worthy of reference and promotion.
2.Full-size diffusion model for adaptive feature medical image fusion.
Jing DI ; Shuhui SHI ; Heran WANG ; Chan LIANG ; Yunlong ZHU
Journal of Biomedical Engineering 2025;42(5):871-882
To address issues such as loss of detailed information, blurred target boundaries, and unclear structural hierarchy in medical image fusion, this paper proposes an adaptive feature medical image fusion network based on a full-scale diffusion model. First, a region-level feature map is generated using a kernel-based saliency map to enhance local features and boundary details. Then, a full-scale diffusion feature extraction network is employed for global feature extraction, alongside a multi-scale denoising U-shaped network designed to fully capture cross-layer information. A multi-scale feature integration module is introduced to reinforce texture details and structural information extracted by the encoder. Finally, an adaptive fusion scheme is applied to progressively fuse region-level features, global features, and source images layer by layer, enhancing the preservation of detail information. To validate the effectiveness of the proposed method, this paper validates the proposed model on the publicly available Harvard dataset and an abdominal dataset. By comparing with nine other representative image fusion methods, the proposed approach achieved improvements across seven evaluation metrics. The results demonstrate that the proposed method effectively extracts both global and local features of medical images, enhances texture details and target boundary clarity, and generates fusion image with high contrast and rich information, providing more reliable support for subsequent clinical diagnosis.
Humans
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Image Processing, Computer-Assisted/methods*
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Algorithms
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Neural Networks, Computer
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Diagnostic Imaging/methods*
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Image Interpretation, Computer-Assisted/methods*
3.Genetic screening and follow-up results in 3 001 newborns in the Yunnan region.
Ao-Yu LI ; Bao-Sheng ZHU ; Jin-Man ZHANG ; Ying CHAN ; Jun-Yue LIN ; Jie ZHANG ; Xiao-Yan ZHOU ; Hong CHEN ; Su-Yun LI ; Na FENG ; Yin-Hong ZHANG
Chinese Journal of Contemporary Pediatrics 2025;27(6):654-660
OBJECTIVES:
To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region.
METHODS:
A prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021. Traditional newborn screening (tNBS) was used to test biochemical indicators, and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases. Positive-screened newborns underwent validation and confirmation tests, and confirmed cases received standardized treatment and long-term follow-up.
RESULTS:
Among the 3 001 newborns, 166 (5.53%) were initially positive for genetic screening, and 1 435 (47.82%) were genetic carriers. The top ten genes with the highest variation frequency were GJB2 (21.29%), DUOX2 (7.27%), HBA (6.14%), GALC (3.63%), SLC12A3 (3.33%), HBB (3.03%), G6PD (2.94%), SLC25A13 (2.90%), PAH (2.73%), and UNC13D (2.68%). Among the initially positive newborns from tNBS and gNBS, 33 (1.10%) and 47 (1.57%) cases were confirmed, respectively. A total of 48 (1.60%) cases were confirmed using gNBS+tNBS. The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS, gNBS, and gNBS+tNBS in diagnosing diseases were 0.866, 0.982, and 0.968, respectively (P<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (P<0.05).
CONCLUSIONS
gNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.
Humans
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Infant, Newborn
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Neonatal Screening
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Genetic Testing
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Female
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Male
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Follow-Up Studies
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Prospective Studies
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China
4.Effect and mechanism of total paeony glycoside on airway remodeling in bronchial asthma
Yi-Jin ZHOU ; Xin-Lei TIAN ; Xing-Chan SHI ; Wen-Jie HU ; Shan ZHU
Medical Journal of Chinese People's Liberation Army 2025;50(4):467-474
Objective To investigate the effect of total paeony glycoside(TPG)on airway remodeling in bronchial asthma mice and its underlying mechanisms.Methods Forty-eight BALB/c mice were randomly divided into control group,model group,ovalbumin+budesonide group(OVA+BUD group),and OVA+TPG group,with 12 mice in each group.Except the control group,mice in other groups were sensitized by intraperitoneal injection of 10%OVA aluminum hydroxide suspension,and then stimulated by atomized inhalation of 1%OVA to establish mouse asthma model.One hour before each inhalation of OVA,mice in OVA+BUD group were atomized with 2 ml BUD suspension,and mice in OVA+TPG group were given 5 g/kg TPG by intragastric administration.Lung tissues and bronchoalveolar lavage fluid(BALF)of mice from each group were collected,and the pathological morphology of the lung tissues was detected by hematoxylin-eosin(HE)and periodic acid schiff(PAS)staining.Inflammatory cell counts[white blood cell(WBC),neutrophil(NEU),eosinophils(EOS),and leukomonocyte(LYM)]in BALF were detected by Wright-giemsa staining.The contents of inflammatory factors including tumor necrosis factor-α(TNF-α),interleukin-1β(IL-1β)and IL-6 in BALF were determined by ELISA.Airway remodeling proteins[fibronectin,α-smooth muscle actin(α-SMA),collagen Ⅰ]and NOD-like receptor protein 3(NLRP3)inflammasome-related proteins[NLRP3,cleaved caspase-1,apoptosis-associated speck-like protein(ASC)]levels were detected by Western blotting.Human bronchial smooth muscle cells(HBSMCs)were divided into control group(normal culture),transforming growth factor(TGF)-β1 group(culture medium containing 10 ng/ml TGF-β1),and TGF-β1+TPG group(culture medium containing 10 ng/ml TGF-β1 and 50 μg/ml TPG).Cell proliferation was detected by CCK-8 method,and Western blotting was used to detect the expression of airway remodeling proteins and NLRP3 inflammasome-related proteins.Results Compared with control group,model group exhibited increased infiltration of inflammatory cell in lung tissues,mucosal epithelium hyperplasia,narrowed bronchial lumen narrowed,tube wall thickened,increased cup cells and mucus secretion,and an elevated pathological score of lung injury(P<0.05);the number of inflammatory cells(WBC,NEU,EOS,and LYM)and the levels of inflammatory factors(TNF-α,IL-1β,and IL-6)in BALF were increased(P<0.05),and the expressions of fibronectin,α-SMA,collagen Ⅰ,NLRP3,cleaved caspase-1 and ASC were elevated(P<0.05).Compared with model group,BUD or TPG treatment effectively reduced asthma symptoms,improved lung histopathology injury,inhibited bronchial wall thickening,significantly reduced the number of inflammatory cells(WBC,NEU,EOS,and LYM)and the content of inflammatory factors(TNF-α,IL-1β,and IL-6)in BALF,and inhibited expression of fibronectin,α-SMA,collagen Ⅰ,NLRP3,cleaved caspase-1 and ASC(P<0.05).Compared with control group,the proliferation rate of HBSMCs was increased,and the protein expression levels of fibronectin,α-SMA,collagen Ⅰ,NLRP3,cleaved caspase-1 and ASC were increased in TGF-β1 group(P<0.05).Compared with TGF-β1 group,TPG treatment decreased cell proliferation and inhibited the protein expression of fibronectin,α-SMA,collagen Ⅰ,NLRP3,cleaved caspase-1 and ASC(P<0.05).Conclusion TPG may alleviate airway remodeling and asthma symptoms by decreasing the expression of airway remodeling-related proteins,inhibiting NLRP3 inflammasome activation,and reducing the inflammatory response.
5.Effects of Lijin Zhenggu Therapy combined with heat supplementing needles on cartilage damage, immune balance, and liver X receptor nuclear factor NF-κB pathway in knee arthritis of New Zealand white rabbits
Chan WANG ; Mingjun XU ; Wei ZUO ; Haitao ZHAO ; Cheng CHEN ; Wenyan YAN ; Xueping ZHU
International Journal of Traditional Chinese Medicine 2024;46(5):600-606
Objective:To explore Lijin Zhenggu Therapy combined with heat supplementing needles on cartilage damage, immune balance, and liver X receptor NF-κB in knee osteoarthritis of New Zealand white rabbits.Methods:Totally 60 New Zealand white rabbits were divided into normal group, model group, Lijin Zhenggu Therapy group, heat supplementing needles group, and a combination group using random number table method, with 12 rabbits in each group. Except for the normal group, all other groups were established with knee osteoarthritis models. The Lijin Zhenggu Therapy group was treated with Lijin Zhenggu Therapy, the heat supplementing needles group was treated with heat supplementing needles, the combination group was treated with Lijin Zhenggu Therapy combined with heat supplementing needles. The pain threshold of each group of white rabbits was observed using a pain meter; HE staining was used to observe the morphology of cartilage damage in each group of white rabbits; ELISA was used to detect PGE 2, IL-1β and β-EP in the articular cartilage tissue of white rabbits in each group; PCR was used to detect the levels of LXRα and NF-κB mRNA. Western blot was used to detect toll like receptor 4 (TLR4), myeloid differentiation factor (MyD88), interferon regulatory factor-7 (IRF-7) in synovial tissue of rabbits in each group. Results:Compared with model group, the pain threshold of rabbits in heat supplementing needles group, Lijin Zhenggu Therapy group and combination group increased ( P<0.05); the levels of PGE 2 and IL-1β decreased ( P<0.05), while the level of β-EP increased ( P<0.05). LXRα mRNA level increased ( P<0.05), and NF-κB mRNA level decreased ( P<0.05); the expressions of TLR4, MyD88, IRF-7 and NF-κB P65 in synovial tissue decreased ( P<0.05). Conclusions:Lijin Zhenggu Therapy combined with heat supplementing needles can reduce the levels of PGE 2 and IL-1β, increase β-EP level, improve pain and cartilage tissue morphology. The mechanism may be related to the regulation of liver X receptor nuclear factor NF-κB pathway, reduction of inflammatory reactions and immunity maintaining.
6.Exploration on the mechanism of acupuncture and moxibustion combined with sand therapy on bone biomechanics and immune function of knee osteoarthritis rabbits based on G protein coupled signaling pathway
Mingjun XU ; Liangyu QIU ; Chan WANG ; Cheng CHEN ; Xueping ZHU
International Journal of Traditional Chinese Medicine 2024;46(6):737-742
Objective:To explore the mechanism of acupuncture combined with sand therapy on bone biomechanics and immune function in rabbits with knee osteoarthritis based on G protein coupled signal.Methods:Totally 35 rabbits were randomly divided into normal group, model group, sand therapy group, acupuncture and moxibustion group and combined group, with 7 rabbits in each group. Except for the normal group, all other groups were prepared with knee osteoarthritis models. After 12 h modeling, rabbits in the sand therapy group and the combined group were treated with sand therapy. Rabbits in the acupuncture and moxibustion group and the combined group received acupuncture stimulation intervention therapy. Rabbits in normal group and model group only moved freely. The levels of IgG, IgM and IgA in serum and IL-1β and TNF-α were detected by ELISA method. The biomechanical properties of femur were measured by American Instron universal material experimental machine. The pathological changes of rabbits in each group were observed by HE staining. Protein expression levels of Gαs, cAMP and Gi in rabbit cartilage tissues were detected by Western blot.Results:Compared with model group, the levels of IgG, IgM and IgA increased ( P<0.05)l the levels of IL-1β and TNF-α decreased ( P<0.05); the maximum load, breaking load, structural stiffness and capacity absorption of rabbits in sand therapy group, acupuncture group and combined group increased ( P<0.05); the expressions of Gαs and cAMP protein increased ( P<0.05), while the expression of Gi protein decreased ( P<0.05). Conclusion:Acupuncture combined with sand therapy in the treatment of knee osteoarthritis can effectively improve the bone strength of osteoarthritis, reduce the inflammatory response, balance the expression of G protein and improve the imbalance of immunoglobulin.
7.Effects of Compound Dahuang Powder combined with acupuncture on synovial ultrastructure, pathological angiogenesis and Ras/Raf signal of synovial cells in rats with rheumatoid arthritis
Mingjun XU ; Liangyu QIU ; Chan WANG ; Cheng CHEN ; Xueping ZHU
International Journal of Traditional Chinese Medicine 2024;46(8):999-1005
Objective:To investigate the effects of external application of Compound Dahuang Powder combined with acupuncture on the synovial ultrastructure, pathological angiogenesis, and Ras/Raf signaling pathway in rheumatoid arthritis rats.Methods:Totally 100 SPF grade SD rats were selected and divided into normal group, model group, acupuncture group, external application group, and combination group according to random number table method, with 20 rats in each group. Except for the normal group, Freund's complete adjuvant was injected into the bilateral plantars to establish a rheumatoid arthritis model. One week after modeling, the acupuncture group received acupuncture at "Yinlingquan (SP9)" and "Sanyinjiao (SP6)" for 30 minutes, with continuous intervention for 6 days and 7 days as one course of treatment, for a total of 3 courses of intervention. The external application group of rats applied compound Dahuang Powder on the right hind foot and ankle joint, 10 g/time, twice a day, for 7 days as one course of treatment, with a total of 3 intervention courses; the combination group received a combined intervention of acupuncture and external application of compound Dahuang Powder. No intervention was performed in the normal group and model group. The levels of TNF-α and IL-1β in serum of rats in each group were detected using enzyme-linked immunosorbent assay. Transmission electron microscopy was used to observe the ultrastructure of synovial cells. HE staining was used to observe the morphology of synovial tissue. Immunohistochemistry was used to detect vascular endothelial growth factor (VEGF) and its receptor VEGFR2 in synovial tissue. Western blot and RT qPCR were used to detect Ras/Raf protein and mRNA in synovial tissue, respectively.Results:Compared with model group, the levels of TNF-α and IL-1β in serum of rats in acupuncture group and external application group decreased ( P<0.05), the expressions of VEGF and VEGFR2 decreased ( P<0.05), and the expressions of Ras and Raf protein and mRNA in acupuncture group and external application group decreased ( P<0.05). Compared with acupuncture group and external application group, the levels of TNF-α and IL-1β in serum of rats in the combination group decreased ( P<0.05), the expressions of VEGF and VEGFR2 decreased ( P<0.05), and the expressions of Ras and Raf protein and mRNA in the combination group decreased ( P<0.05). The results of synovial cell ultrastructure showed that the nuclear membrane of synovial cells in normal group was good, and the nuclear membrane in model group was seriously damaged. The acupuncture group and external application group had different degrees of improvement, and the combination group had the most significant improvement. HE staining results showed that the joint synovial tissue of the normal group was normal, the joint synovial tissue of the model group had a large amount of inflammatory infiltration, the joint synovial injury of the acupuncture group and the external application group was slightly improved, and the pathological injury of the combined group was significantly reduced. Conclusion:The combination of external application of compound Dahuang Powder and acupuncture can regulate angiogenesis related factors, regulate the Ras/Raf signaling pathway, and improve the ultrastructure of synovial cells in rheumatoid arthritis model rats.
8.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
9.Analysis on genetic etiology of disorders of sex development using whole exome sequencing
Liu-Jiao WU ; Chan-Chan JIN ; Shu ZHU ; Wen-Ming HUANG ; Jian-Hong YE ; Tao LYU ; Bao-Sheng ZHU ; Jing HE
Medical Journal of Chinese People's Liberation Army 2024;49(5):495-503
Objective To elucidate the molecular genetic etiology of patients with disorders of sex development(DSD)using whole exome sequencing(WES),thereby enhancing our understanding of the underlying mechanisms of sexual development abnormalities.Methods Retrospective analysis was conducted on clinical data of 60 DSD patients diagnosed in the First People's Hospital of Yunnan Province between March 2008 and August 2021,with an additional family study for one proband.Genomic DNA was extracted from patients for WES analysis.Single nucleotide polymorphism(SNP)and insertions/deletion(InDel)tests were identified using SAMtools software in conjunction with established SNP and InDel databases.Copy number variations(CNVs)at the exon level were detected using ExomeDepth,while the potential pathogenicity of mutations was predicted with PolyPhen-2,Mutation taster and PyMol software,with Sanger sequencing employed for confirmation.Results The study included 22 patients with 46,XX DSD and 38 with 46,XY DSD.Among the 46,XX DSD patients,the SRY gene was detected in 14 patients.In the remaining 8 patients and a proband's families,single nucleotide site variations(SNVs)of NR5A1,PROKR2 and ANOS1 genes were identified in 2 patients,and CNVs in CYP21A2 gene were found in 4 patients.The pathogenicity of CYP21A2 EX1 Dup has been previously reported,while the remaining 3 CNVs were of uncertain significance,and no DSD-related mutations were detected in 2 patients.In the WES analysis of 46,XY DSD patients,10 pathogenic or likely pathogenic SNVs across 5 genes(SRY,AR,SRD5A2,CYP17A1,and NR5A1)were identified in 14 patients.Additionally,5 likely pathogenic CNVs involving the CYP21A2,AKR1C2,CBX2,and NR5A1 genes were detected in 5 patients,comprising 3 deletions and 2 duplications.Novel SNVs in NR5A1(c.722G>T,c.48C>G)and ANOS1 c.564A>T were identified,with no prior reports in relevant databases.The pathogenicity of CYP21A2 EX1 Dup is documented in related databases,while the remaining CNVs have not been previously reported.Conclusion The utilization of WES technology has enhanced the diagnostic potential for DSD,broadened the spectrum of known DSD-related gene mutations,and deepened our comprehension of DSD pathogenesis,offering valuable support for genetic counseling.
10.Clinical effects of flaps or myocutaneous flaps transplantation after titanium mesh-retaining debridement in repairing the wounds with exposed titanium mesh after cranioplasty
Lin HE ; Rui WANG ; Chan ZHU ; Xueyuan YU ; Youcheng HE ; Lin ZHOU ; Zhuo ZHANG ; Maoguo SHU
Chinese Journal of Burns 2024;40(3):273-280
Objective:To explore the clinical effects of flaps or myocutaneous flaps transplantation after debridement to repair the wounds with exposed titanium mesh after cranioplasty on the premise of retaining the titanium mesh.Methods:This study was a retrospective observational study. From February 2017 to October 2022, 22 patients with titanium mesh exposure after cranioplasty who met the inclusion criteria were admitted to the Department of Plastic, Aesthetic & Maxillofacial Surgery of the First Affiliated Hospital of Xi'an Jiaotong University, including 15 males and 7 females, aged from 19 to 68 years. After admission, treatments such as bacterial culture of wound exudate sample, anti-infection, and dressing change were carried out. Thorough surgical debridement was performed when the wound improved, and the wound area was 3.0 cm×2.0 cm to 11.0 cm×8.0 cm after debridement. The wound was repaired with local flaps, expanded flaps, or free latissimus dorsi myocutaneous flaps according to the size, location, severity of infection, and surrounding tissue condition of the wounds, and the areas of flaps or myocutaneous flaps were 5.5 cm×4.0 cm to 18.0 cm×15.0 cm. The donor areas of flaps were sutured directly or repaired by split-thickness skin grafts from head. The wound repair method was recorded. The survivals of flaps or myocutaneous flaps after surgery and wound healing in 2 weeks after surgery were recorded. During postoperative follow-up, recurrence of infection or titanium mesh exposure in the implanted area of titanium mesh was observed; the head shapes of patients, scar formation of the operative incision, and baldness were observed. At the last follow-up, the satisfaction of patients with the treatment effect (dividing into three levels: satisfied, basically satisfied, and dissatisfied) was evaluated. The total treatment costs of patients during their hospitalization were calculated.Results:The wounds in 11 cases were repaired with local flaps, the wounds in 5 cases were repaired with expanded flaps, and the wounds in 6 cases were repaired with free latissimus dorsi myocutaneous flaps. All flaps or myocutaneous flaps survived completely after surgery, and all wounds healed well in 2 weeks after surgery. Follow up for 6 to 48 months after operation, only one patient with local flap grafting experienced a recurrence of infection in the titanium mesh implanted area at more than one month after surgery, and the titanium mesh was removed because of ineffective treatment. Except for one patient who had a local depression in the head after removing the titanium mesh, the rest of the patients had a full head shape. Except for myocutaneous flap grafting areas in 6 cases and skin grafting area in 1 case with local flaps grafting had no hair growth, the other patients had no baldness. All the scars in surgical incision were concealed. At the last follow-up, 19 cases were satisfied with the treatment effects, 2 cases were basically satisfied, and 1 case was dissatisfied. The total treatment cost for patients in this group during hospitalization was 11 764-36 452 (22 304±6 955) yuan.Conclusions:For patients with titanium mesh exposure after cranioplasty, on the premise of adequate preoperative preparation and thorough debridement, the wound can be repaired with appropriate flaps or myocutaneous flaps according to the wound condition. The surgery can preserve all or part of the titanium mesh. The postoperative wound healing is good and the recurrence of infection or titanium mesh exposure in the titanium mesh implanted area is reduced, leading to good head shape, reduced surgical frequency, and decreased treatment costs.


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