1.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
2.Clinical Observation on Clinical Efficacy of Traditional Chinese Medicine Sequential Therapy for the Treatment of Patients with Psoriasis Vulgaris in Shenzhen
Qinmei GU ; Binyan LI ; Yanjie LIU ; Yu SU ; Rong ZHANG ; Haifang GAN
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(5):1126-1132
Objective To observe the clinical efficacy of traditional Chinese medicine(TCM)sequential therapy in treating patients with psoriasis vulgaris in Shenzhen,and to explore the syndrome differentiation and treatment for the patients with psoriasis vulgaris in Shenzhen region.Methods From January 2019 to February 2024,70 cases of psoriasis vulgaris admitted to Shenzhen Bao'an Traditional Chinese Medicine Hospital Affiliated to Guangzhou University of Chinese Medicine(Shenzhen Bao'an Traditional Chinese Medicine Hospital Group)were retrospectively analyzed.The patients were divided into the observation group(39 cases)and the control group(31 cases)according to the treatment plans.In the control group,only topical application of Calcipotriol Ointment was given throughout the treatment,while in the observation group the patients were treated with TCM sequential therapy according to the illness stage on the basis of treatment for the control group,i.e.,internal administration of modified Shuiniujiao Huanglian Decoction was given in the acute stage and modified Sijunzi Shuiniujiao Decoction was given in the remission stage.Both groups were treated for 3 months.Before and after the treatment,the changes of Psoriasis Area and Severity Index(PASI)scores,Dermatology Life Quality Index(DLQI)scores and TCM syndrome scores in the two groups were observed.After treatment,the clinical efficacy and drug safety of the two groups were evaluated.Results(1)After 3 months of treatment,the total effective rate of the observation group was 89.74%(35/39),and that of the control group was 74.19%(23/31).The intergroup comparison(tested by chi-square test)showed that the efficacy of the observation group was significantly superior to that of the control group(P<0.05).(2)After treatment,the PASI scores for evaluating the severity of skin lesions in the two groups were significantly decreased compared with those before treatment(P<0.05),and the decrease in the observation group was significantly superior to that in the control group(P<0.05).(3)After treatment,the DLQI scores for evaluating the quality of life in the two groups were significantly decreased compared with those before treatment(P<0.05),and the decrease in the observation group was significantly superior to that in the control group(P<0.05).(4)After treatment,the scores of TCM syndromes such as erythema,itching,vexation and dry mouth in the two groups were significantly decreased compared with those before treatment(P<0.05),and the decrease in the observation group was significantly superior to that in the control group(P<0.05).(5)During the treatment period,no obvious adverse reactions occurred in the two groups of patients,with high safety.Conclusion On the basis of conventional western medicine treatment,application of TCM sequential therapy exerts certain clinical efficacy in treating patients with psoriasis vulgaris in Shenzhen region,and the combined therapy is effective on controlling the patients'illness conditions,significantly alleviating the symptoms and improving the quality of life of the patients.
3.Sex development disorder with discordant chromosome karyotype and gene detection:a case report and literature review
Yan-Lin REN ; Ya-Li LI ; Kun LI ; Fan ZHANG ; Li-Min RONG ; Xiao-Ping YU ; Jun GU ; Yan-Hua KANG ; Ying HE
Medical Journal of Chinese People's Liberation Army 2025;50(1):50-56
Objective To report the diagnosis,treatment,and verification process of a patient with sex development disorder whose chromosomal karyotype and genetic test results are inconsistent,and conduct a literature review to improve the understanding of the mosaic status of sexual development disorders.Methods A 14-year-old patient presented with primary amenorrhea on April 3,2020,at the First Affiliated Hospital of Hebei North University,exhibiting female sexual characteristics.The patient underwent ultrasonic/magnetic resonance imaging of gonads,assessment of gonadal axis function,chromosomal karyotype,and molecular genetic testing,as well as pelvic exploration,malignant gonads resection,and hormone replacement therapy,resulting in drug-induced menstruation.During the diagnosis and treatment,it was found that the patient's chromosomal karyotype analysis was inconsistent with the molecular genetic test results.Subsequently,samples from the three germ layer cells were taken,and fluorescence in situ hybridization(FISH)was used to detect the sex chromosomes in each germ layer cell.XY probes were used to label the gonadal pathological sections to explore the distribution differences of the Y chromosome in the gonads,and changes in anti-Müllerian hormone(AMH)levels before and after surgery were compared.Databases such as Wanfang and PubMed were searched to summarize relevant cohort study literature and understand the current status of research on this disease.Results The patient's body exhibited a significant differences between the 45,X and 46,XY cell lines in different germ layers and within the same layer tissues.The proportion of 45,X in buccal mucosal cells derived from the ectoderm was 30%(6/20),in peripheral blood lymphocytes derived from the mesoderm was 9.7%(11/114),and in bladder shed cells derived from endoderm was 20.4%(22/108).The gonadal pathological sections labeled with XY probes indicated a mosaic state with a reduced Y-chromosome;where the epididymal structure area had a 45,X cell line mosaic of 50.0%,and the malignant area had a normal"Y"content.After gonadal resection,AMH levels significantly dropped from 7.28 pmol/L to<0.07 pmol/L.Literature review revealed that patients with 45,X/46,XY have a complex phenotype spectrum,most with features of Turner syndrome,and female phenotypes are at risk of gonadal tumors.Conclusions In the diagnosis of difficult cases of sex development disorders,when performing peripheral blood karyotype testing,the number of counted cells and analyzed cells should be increased as much as possible,and multi-germ layer cell sampling should be performed.Gonads with a high"Y"mosaic rate are more prone to malignancy in the abdominal cavity.Detecting AMH levels can distinguish cryptorchidism and anorchidism in sexual development disorders with Y chromosomes.
4.Establishment and evaluation of a lipopolysaccharide-induced acute respiratory distress syndrome model in minipigs
Chuang-Ye WANG ; Ran WANG ; Jian ZHANG ; Ling-Xiao QIU ; Bin QING ; Heng YOU ; Jin-Cheng LIU ; Bin WANG ; Nan-Bo WANG ; Jia-Yu LI ; Xing LIU ; Shuang WANG ; Jin HU ; Jian WEN ; Quan LI ; Xiao-Ou HUANG ; Kun ZHAO ; Shuang-Lin LIU ; Gang LIU ; Mei-Ju WANG ; Qing XIANG ; Hong-Mei WU ; Xiao-Rong SUN ; Tao GU ; Dong ZHANG ; Qi LI ; Zhi XU
Medical Journal of Chinese People's Liberation Army 2025;50(9):1154-1161
Objective To establish a stable,reliable,and clinically relevant porcine model of endotoxin-induced acute respiratory distress syndrome(ARDS).Methods Ten 8-month-old male Bama minipigs were deeply sedated,followed by invasive mechanical ventilation and electrocardiographic monitoring.Lipopolysaccharide(LPS)was intravenously pumped at 600 μg/(kg·h)for 3 hours,then maintained at 15 μg/(kg·h)thereafter.Dynamic monitoring was performed at five time points after LPS injection(LPS 0,1,3,5,and 8 h),including arterial blood gas analysis and chest computed tomography(CT)scans.Pathological examination of lung tissues obtained via bronchoscopic biopsy(HE staining and transmission electron microscopy)was conducted.These indicators were comprehensively used to evaluate the success of the animal model.Results At 5 hours after LPS administration,8 minipigs developed symptoms such as skin cyanosis,elevated body temperature,and respiratory distress.The oxygenation index decreased to<300 mmHg.Chest CT scans showed diffuse pulmonary infiltrates.Histopathology revealed alveolar edema and hyaline membrane formation.Transmission electron microscopy demonstrated disruption of pulmonary blood-air barrier,depletion of lamellar bodies in type Ⅱ pneumocytes,inflammatory cell infiltration,and exudation of plasma proteins and fibrin.Compared with LPS 0 h,at LPS 8 h,the oxygenation index and arterial blood pH were significantly decreased(P<0.001),while blood lactic acid and serum potassium were significantly increased(P<0.05);serum calcium and base excess were significantly decreased(P<0.05),and the lung injury score based on HE-stained lung sections was significantly increased(P<0.01).Conclusion The porcine ARDS model established by continuous LPS injection can dynamically simulate the pathophysiological characteristics and typical pathological manifestations of clinical septic ARDS,making it an effective tool to study the pathogenesis,prevention,and treatment strategies of septic ARDS.
5.Progress of intraosseous basivertebral nerve ablation for symptomatic Modic alterations
Gui LIAO ; Yu-Min MENG ; Zhuan ZOU ; Kai-Zhen XIAO ; Guang-Yu HUANG ; Rong-He GU
China Journal of Orthopaedics and Traumatology 2024;37(4):423-428
Chronic lumbar and back pain caused by degenerative vertebral endplates presents a challenging issue for pa-tients and clinicians.As a new minimally invasive spinal treatment method,radiofrequency ablation of vertebral basal nerve in bone can denature the corresponding vertebral basal nerve through radiofrequency ablation of degenerative vertebral endplate.It blocks the nociceptive signal transmission of the vertebral base nerve,thereby alleviating the symptoms of low back pain caused by the degenerative vertebral endplate.At present,many foreign articles have reported the operation principle,opera-tion method,clinical efficacy and related complications of radiofrequency ablation of the vertebral basal nerve.The main pur-pose of this paper is to conduct a comprehensive analysis of the current relevant research,and provide a reference for the follow-up clinical research.
6.Incidence of blood transfusion and associated risk factors during hip arthroplasty hospitalization
Gui LIAO ; Yu-Min MENG ; Rong-He GU
China Journal of Orthopaedics and Traumatology 2024;37(5):492-499
Objective To investigate the incidence and risk factors of blood transfusion during hospitalization in patients receiving hip arthroplasty.Methods Clinical data of 347 hip arthroplasty patients admitted between January and January 2019 and December 2021.Patients were divided into 184 patients in the transfusion group and 164 patients in the nontransfusion group according to whether they received blood transfusion during hospitalization.The basic medical history data,biochemical results and surgical conditions of the patients in two groups were collected and compared.They were divided into total hip arthroplasty(THA)and hemiarthroplasty(HA)according to the different surgical methods.One-way analysis and Spearman correlation were used to analyze the factors associated with blood transfusion in hip arthroplasty patients.Multi-factor logistic regression analysis was performed for statistically significant(P<0.05)indicators,thus screening for independent risk factors for blood transfusion during hospitalization in hip arthroplasty patients.The receiver operating characteristic(ROC)curves for in-traoperative bleeding in all hip arthroplasty patients,total hip arthroplasty patients,and hemi arthroplasty patients were plotted and compared,and area under curve(AUC)and the optimal threshold were calculated.Results A total of 347 patients were in-cluded for hip arthroplasty,including 207 total hip arthroplasty and 140 hemi arthroplasty.The transfusion rates of all hip arthroplasty patients,total hip arthroplasty patients and hemi arthroplasty patients were 53.03%(184/347),53.14%(110/207)and 52.86%(74/140),respectively.Multifactorial logistic regression analysis showed that preoperative cystatin C(OR=2.739,P=0.001),hemoglobin at admission(OR=0.960,P<0.000 1),intraoperative bleeding(OR=1.010,P<0.000 1),postoperative pneumonia(OR=1.897,P=0.024),and right hip arthroplasty(OR=2.277,P=0.002)were independent risk factors for all hip arthroplasty patients;hemoglobin at admission(OR=0.978,P=0.016),intraoperative bleeding(OR=1.012,P<0.000 1),and postoperative pneumonia(OR=2.769,P=0.013)were independent risk factors for total hip arthroplasty;hemoglobin at admis-sion(OR=0.930,P<0.000 1),intraoperative bleeding(OR=1.010,P<0.000 1),preoperative cystatin C(OR=2.277,P=0.023),and right hip arthroplasty(OR=2.428,P=0.046)were independent risk factors for hemi arthroplasty.Hemoglobin on admission and intraoperative bleeding were common risk factors for total and hemi arthroplasty.The AUCs were 0.688,0.778,and 0.652 for total hip arthroplasty patients,total hip arthroplasty patients,and hemi arthroplasty patients,respectively.Con-clusion Intraoperative bleeding volume and preoperative hemoglobin are important risk factors for transfusion during hip arthroplasty hospitalization,and cystatin C may be a new biomarker for transfusion during hip arthroplasty hospitalization.At the same time,given the high incidence and potential risk of blood transfusion in hip arthroplasty,interventions should be made during hospitalization for identified risk factors.
7.Protocol for the Traditional Chinese Medicine Diagnosis and Treatment Guidelines for Children with Upper Airway cough Syndrome
Lingyun ZHANG ; Xiyou WANG ; Daxin LIU ; Qiang HE ; Xuefeng WANG ; Xun LI ; Yutong FEI ; Yi XIAO ; Xiaoxue LAN ; Yuanwen LIANG ; Xiaoxuan LIN ; Rong ZHOU ; Sirui GU ; Ying ZHANG ; Yue WANG ; Xingzhu YE ; Wenke LIU ; Hong CHEN ; Changhe YU
International Journal of Traditional Chinese Medicine 2024;46(8):961-966
In order to standardize the clinical diagnosis and treatment of upper airway cough syndrome (UACS) for children in China, Dongzhimen Hospital of Beijing University of Chinese Medicine and Affiliated Hospital of Liaoning University of Traditional Chinese Medicine initiated the development of this Traditional Chinese Medicine Diagnosis and Treatment Guidelines for Children with Upper Airway cough Syndrome based on evidence-based medical evidence. This guideline will process registration, write a plan, and develop relevant processes and writing norms, develop and publish official documents. This plan mainly introduces the scope of the guidelines, the purpose and significance, the composition of the guidelines working group, the management of conflicts of interest, the collection, selection and determination of clinical problems, the retrieval, screening and rating of evidence, and the consensus of recommendations. Registration information: This study has been registered in the international practice guidelines registry platform with the registration code of PREPARE-2023CN087.
8.Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome (version 2024)
Junyu WANG ; Hai JIN ; Danfeng ZHANG ; Rutong YU ; Mingkun YU ; Yijie MA ; Yue MA ; Ning WANG ; Chunhong WANG ; Chunhui WANG ; Qing WANG ; Xinyu WANG ; Xinjun WANG ; Hengli TIAN ; Xinhua TIAN ; Yijun BAO ; Hua FENG ; Wa DA ; Liquan LYU ; Haijun REN ; Jinfang LIU ; Guodong LIU ; Chunhui LIU ; Junwen GUAN ; Rongcai JIANG ; Yiming LI ; Lihong LI ; Zhenxing LI ; Jinglian LI ; Jun YANG ; Chaohua YANG ; Xiao BU ; Xuehai WU ; Li BIE ; Binghui QIU ; Yongming ZHANG ; Qingjiu ZHANG ; Bo ZHANG ; Xiangtong ZHANG ; Rongbin CHEN ; Chao LIN ; Hu JIN ; Weiming ZHENG ; Mingliang ZHAO ; Liang ZHAO ; Rong HU ; Jixin DUAN ; Jiemin YAO ; Hechun XIA ; Ye GU ; Tao QIAN ; Suokai QIAN ; Tao XU ; Guoyi GAO ; Xiaoping TANG ; Qibing HUANG ; Rong FU ; Jun KANG ; Guobiao LIANG ; Kaiwei HAN ; Zhenmin HAN ; Shuo HAN ; Jun PU ; Lijun HENG ; Junji WEI ; Lijun HOU
Chinese Journal of Trauma 2024;40(5):385-396
Traumatic supraorbital fissure syndrome (TSOFS) is a symptom complex caused by nerve entrapment in the supraorbital fissure after skull base trauma. If the compressed cranial nerve in the supraorbital fissure is not decompressed surgically, ptosis, diplopia and eye movement disorder may exist for a long time and seriously affect the patients′ quality of life. Since its overall incidence is not high, it is not familiarized with the majority of neurosurgeons and some TSOFS may be complicated with skull base vascular injury. If the supraorbital fissure surgery is performed without treatment of vascular injury, it may cause massive hemorrhage, and disability and even life-threatening in severe cases. At present, there is no consensus or guideline on the diagnosis and treatment of TSOFS that can be referred to both domestically and internationally. To improve the understanding of TSOFS among clinical physicians and establish standardized diagnosis and treatment plans, the Skull Base Trauma Group of the Neurorepair Professional Committee of the Chinese Medical Doctor Association, Neurotrauma Group of the Neurosurgery Branch of the Chinese Medical Association, Neurotrauma Group of the Traumatology Branch of the Chinese Medical Association, and Editorial Committee of Chinese Journal of Trauma organized relevant experts to formulate Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome ( version 2024) based on evidence of evidence-based medicine and clinical experience of diagnosis and treatment. This consensus puts forward 12 recommendations on the diagnosis, classification, treatment, efficacy evaluation and follow-up of TSOFS, aiming to provide references for neurosurgeons from hospitals of all levels to standardize the diagnosis and treatment of TSOFS.
9.Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes.
Zhong-Mei SHAO ; Yu-Tong ZHU ; Meng GU ; Sen-Chao GUO ; Hui YU ; Kuo-Kuo LI ; Dong-Dong TANG ; Yu-Ping XU ; Ming-Rong LV
Asian Journal of Andrology 2023;26(1):91-98
Variations in the dynein axonemal heavy chain gene, dynein axonemal heavy chain 6 (DNAH6), lead to multiple morphological abnormalities of the flagella. Recent studies have reported that these deficiencies may result in sperm head deformation. However, whether DNAH6 is also involved in human acrosome biogenesis remains unknown. The purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and flagella. Whole-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University (Hefei, China). Hematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy were performed to analyze the sperm morphology and ultrastructure. Immunofluorescence staining and Western blot analysis were conducted to examine the effects of genetic variants. We identified three novel deleterious variants in DNAH6 among three unrelated families. The absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 variants. Additionally, deficiencies in the acrosome, abnormal chromatin compaction, and vacuole-containing sperm heads were observed in these patients with DNAH6 variants. The decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western blot. After intracytoplasmic sperm injection (ICSI) treatment, the partner of one patient with a DNAH6 variant achieved successful pregnancy. Overall, novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified, and the findings indicated ICSI as an effective clinical treatment for such patients.
10.Analysis of prognostic factors of extranodal NK/T-cell lymphoma treated with pegaspargase/L-asparaginase: a multicenter retrospective study.
Zi Yuan SHEN ; Xi Cheng CHEN ; Hui Rong SHAN ; Tao JIA ; Wei Ying GU ; Fei WANG ; Qing Ling TENG ; Ling WANG ; Chun Ling WANG ; Yu Ye SHI ; Hao ZHANG ; Yu Qing MIAO ; Tai Gang ZHU ; Chun Yan JI ; Jing Jing YE ; Ming Zhi ZHANG ; Xu Dong ZHANG ; Liang WANG ; Kai Lin XU ; Wei SANG
Chinese Journal of Hematology 2023;44(8):642-648
Objective: To explore the prognostic factors of extracellular NK/T cell lymphoma (ENKTL) treated with pegaspargase/L-asparaginase. Methods: The clinical data of 656 ENKTL patients diagnosed at 11 medical centers in the Huaihai Lymphoma Working Group from March 2014 to April 2021 were retrospectively analyzed. The patients were randomly divided into two groups: a training set (460 cases) and a validation set (196 cases) at 7∶3, and the prognostic factors of the patients were analyzed. A prognostic scoring system was established, and the predictive performance of different models was compared. Results: Patients' median age was 46 (34, 57) years, with 456 males (69.5% ) and 561 nasal involvement (85.5% ). 203 patients (30.9% ) received a chemotherapy regimen based on L-asparaginase combined with anthracyclines, and the 5-year overall survival rate of patients treated with P-GEMOX regimen (pegaspargase+gemcitabine+oxaliplatin) was better than those treated with SMILE regimen (methotrexate+dexamethasone+cyclophosphamide+L-asparaginase+etoposide) (85.9% vs 63.8% ; P=0.004). The results of multivariate analysis showed that gender, CA stage, the Eastern Cooperative Oncology Group performance status (ECOG PS) score, HGB, and EB virus DNA were independent influencing factors for the prognosis of ENKTL patients (P<0.05). In this study, the predictive performance of the prognostic factors is superior to the international prognostic index, Korean prognostic index, and prognostic index of natural killer lymphoma. Conclusion: Gender, CA stage, ECOG PS score, HGB, and EB virus DNA are prognostic factors for ENKTL patients treated with pegaspargase/L-asparaginase.
Male
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Humans
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Middle Aged
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Asparaginase/therapeutic use*
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Prognosis
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Retrospective Studies
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Lymphoma, Extranodal NK-T-Cell/drug therapy*
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Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
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Etoposide
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Cyclophosphamide
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Methotrexate/therapeutic use*
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DNA/therapeutic use*
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Treatment Outcome

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