1.Explore of nanopore sequencing technology in ambiguities of HLA genotyping
Nanying CHEN ; Wei ZHANG ; Lina DONG ; Fang WANG ; Yizhen HE ; Chen CHEN ; Faming ZHU
Chinese Journal of Blood Transfusion 2025;38(3):309-315
		                        		
		                        			
		                        			[Objective] To resolve the ambiguities of HLA genotyping generated by next generation sequencing (NGS) using nanopore sequencing technology. [Methods] A total of 38 samples with ambiguous HLA genotyping by NGS in our laboratory were collected, and HLA-A, -B, -C, -DRB1, -DRB3/4/5, -DQA1, -DQB1, -DPA1 and -DPB1 loci in these samples were amplified using primers in the same commercial NGS HLA genotyping kit, then subjected to third-generation library construction, and sequenced on the nanopore sequencer. The sequencing data were converted into Fastq files and analyzed by software, and the genotypes of 11 HLA loci were obtained. The ambiguities were counted directly. [Results] The high-resolution genotyping at the second domain of 11 HLA loci of 38 samples using the third generation sequencing (TGS) were consistent with the results of the NGS method at a rate of 100%. The genotypes for the HLA-A, -B, -C, -DRB3, -DRB4, -DQA1 and -DPA1 loci by TGS were all only one result, and the discrimination rate for ambiguities of the HLA-A, -B, -C, and -DQA1 loci (all caused by the difficulty in phasing due to the short NGS read length) was 100%. Among the HLA-DRB1, -DRB5, -DQB1 and -DPB1 loci, the discrimination rate of TGS for the ambiguities caused by non-amplification of exon 1 was 0% and by the short NGS read length was 100%. [Conclusion] Nanopore technology was used to identify the ambiguities of 11 HLA loci in this study, and the ambiguities caused by the short read length disadvantage of the NGS method could be solved effectively and the accuracy of HLA genotyping would be improved.
		                        		
		                        		
		                        		
		                        	
2.Clinical Study on Dingxuan Decoction Combined with Vestibular Function Rehabilitation Training in the Treatment of Meniere's Disease
Yu-Fang ZHANG ; Yan-Fang SONG ; Ying-Zhe CHEN ; Xiang-Dong WU ; Jing-Jing HAI ; Wen-Qing SUN
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(3):646-652
		                        		
		                        			
		                        			Objective To investigate the efficacy of Dingxuan Decoction combined with vestibular function rehabilitation training in the treatment of Meniere's disease and to observe its effect on clinical symptoms and blood flow of vertebral artery.Methods A total of 100 patients with Meniere's disease of liver-kidney yin deficiency complicated with wind-water upward stirring type were randomly divided into an observation group and a control group,with 50 patients in each group.The control group was given conventional treatment and vestibular function rehabilitation training,and the observation group was treated with Dingxuan Decoction on the basis of treatment for the control group.The two groups were treated for 4 weeks and then were followed up for 6 months.The changes of traditional Chinese medicine(TCM)syndrome score,Dizziness Handicap Inventory(DHI)score,Tinnitus Handicap Inventory(THI)score,hearing visual analogue scale(VAS)score and vertebral artery blood flow in the two groups were observed before and after the treatment.After treatment,the TCM syndrome efficacy,hearing improvement and follow-up results were compared between the two groups.Results(1)After 4 weeks of treatment,the total effective rate for TCM syndrome efficacy of the observation group was 86.00%(43/50),and that of the control group was 62.00%(31/50),and the intergroup comparison showed that the TCM syndrome efficacy in the observation group was significantly superior to that in the control group(P<0.01).(2)After 4 weeks of treatment,the hearing of patients in both groups was improved,and the total effective rate for the efficacy of hearing improvement in the observation group was 76.00%(38/50),while that in the control group was 46.00%(23/50).The intergroup comparison showed that the efficacy of hearing improvement in the observation group was significantly superior to that in the control group(P<0.01).(3)After treatment,the TCM syndrome scores,DHI score,THI score and hearing VAS scores in the two groups were all decreased compared with those before treatment(P<0.05 or P<0.01),and the decrease in the observation group was significantly superior to that in the control group(P<0.01).(4)After treatment,the average blood flow velocity of the left vertebral artery(LVA)and the right vertebral artery(RVA)in the two groups were both increased compared with those before treatment(P<0.05),and the increase in the observation group was significantly superior to that in the control group(P<0.05 or P<0.01).(5)The results of 6-month follow-up after treatment showed that the incidence of Meniere's disease and the frequency of attack in the observation group were significantly reduced compared with those in the control group,and the episode duration in the observation group was significantly shorter than that in the control group,the differences being all statistically significant(P<0.05 or P<0.01).Conclusion Dingxuan Decoction combined with vestibular function rehabilitation training exert certain effect in treating patients with Meniere's disease of liver-kidney yin deficiency complicated with wind-water upward stirring type,and the therapy is effective on improving patients'clinical symptoms and vertebral artery blood flow,reducing the risk of recurrence and improving the quality of life of the patients.
		                        		
		                        		
		                        		
		                        	
3.Internal experiences of financial toxicity in cancer patients: a Meta-synthesis
Ying DONG ; Huan ZHUANG ; Yu FANG ; Chen ZHANG ; Guichun JIANG
Chinese Journal of Practical Nursing 2024;40(10):786-796
		                        		
		                        			
		                        			Objective:This study aims to investigate the inner experiences of cancer patients when confronting financial toxicity through a Meta-analytical approach. The goal is to provide evidence-based insights and theoretical references for clinical healthcare professionals to fully understand the feelings and experiences associated with financial toxicity in cancer patients, thereby laying a foundation for targeted interventional measures.Methods:A computerized search was conducted across databases including CINAHL, PubMed, PsycINFO, Embase, Scopus, Web of Science, CNKI, WanFang, VIP, Sinomed and other databases, collecting qualitative studies related to the inner experience of financial toxicity among cancer patients, up until April 12, 2023. Quality appraisal of the included literature was carried out according to JBI′s standards for qualitative research, and results were synthesized using Meta-aggregation methods.Results:Twenty-three studies were included, from which 82 specific outcomes were extracted. These were categorized into 11 new thematic groups and ultimately synthesized into four integrated findings: the impact of objective costs, subjective burden, and unreasonable expectations; diverse cognitive attitudes and management coping strategies; multiple pressures and challenges on patients and their families; and the articulation of needs and perceptions of beneficial growth.Conclusions:Healthcare professionals should pay attention to the financial toxicity issues that patients face at the initial stage of cancer diagnosis. Timely communication about economic issues between patients and healthcare providers is essential to help patients have a preliminary understanding of the impending financial toxicity at the onset of the disease. A comprehensive intervention that emphasizes different aspects of objective and subjective financial toxicity, coupled with multi-dimensional mitigation strategies, can promote active coping in patients, enhance familial emotional and financial support to overcome challenges together, and prioritize patients′ needs and expectations to guide them towards reinforcing positive experiences and minimizing the impact of financial toxicity.
		                        		
		                        		
		                        		
		                        	
4.Research progress in the diagnosis and control of animal Lyme disease
Jing-Zhe YU ; Jian-Qiao QIU ; Lan ZHOU ; Ren-Dong FANG ; Xue-Lei CHEN
Chinese Journal of Zoonoses 2024;40(1):62-69
		                        		
		                        			
		                        			Lyme disease is a natural zoonotic infectious disease transmitted by ticks infected by different genotypes of Borre-lia burgdorferi sensu lato,which was discovered in the 1970s.This pathogen is prevalent primarily in temperate and subtropi-cal areas.Dogs,cats,horses,cattle,deer,and other animals are susceptible,and humans are also susceptible hosts.The main symptoms of Lyme disease in humans are erythema migrans,arthritis,and other neurological symptoms,and the common symptoms in infected animals include joint diseases,coat shedding,fever,laminitis,and lameness.Lyme disease is wide-spread,but diagnosis is difficult,and this disease is easily misdiagnosed and missed.Awareness of Lyme disease must be in-creased to avoid its toll on livestock and the pet industry.Therefore,this article reviews research progress in diagnosis and con-trol technology for animal Lyme disease and Borrelia burgdorferi,to provide a reference for accurate,rapid diagnosis and con-trol of Lyme disease.
		                        		
		                        		
		                        		
		                        	
5.Discussion on hot topics and promotion paths for post-market surveillance and supervise of medical consumables based on non-active medical devices
Fang DONG ; Jianlong YANG ; Jiayue LI ; Peng NING ; Fangfang CHEN ; Shengnan SHI ; Xiaolan QIU ; Zigui XIE ; Zeshi CUI
China Medical Equipment 2024;21(2):166-173
		                        		
		                        			
		                        			Objective:To explore the research hotspots and effective promotion paths of post market surveillance and supervise of medical consumables with non-active medical devices.Methods:Data mining methods were used to collect related journal literatures and documents from the websites of China regulatory institutions and the China National Knowledge Infrastructure(CNKI),order sub item data of medical device adverse event reports,extract the MeSH element words of literatures and documents,perform bibliometric analysis and visual display.Results:The number of medical devices adverse event reports in China has been increasing year by year,reaching 694 866 in 2022,in the four statistical years from 2019 to 2022,the number of reports on non-active medical devices and IVD reagents also showed a parallel increasing trend,accounting for about 65.00% of the total number of adverse event reports on medical devices in the year.The bibliometric analysis of journal literature shows that research in this field has received varying degrees of participation from regulatory institutions,universities,medical institutions,and enterprises.Regulatory institutions have contributed 46 articles,accounting for 56.79% of the total number of articles,followed by 28 articles from universities.The co-occurrence analysis shows that hot topic is focused in 5 clusters:quality management,risk management,international experiences discussion and adverse event surveillance and re-evaluation and real-world research.China regulatory institutions attach great importance to post market surveillance and supervise,and have issued more than 20 relevant documents since 2006,focusing on specific topics and gradually deepening around safety and effectiveness.Conclusion:The post market surveillance and supervise of medical devices,especially medical consumables based on non-active medical devices,need to be promoted synchronously in three dimensions:regulatory institutions,medical institutions,and enterprises.Universities,research institutes,and industry organizations should work in coordinating to strengthen the collection,identification,and active surveillance of risk signals based on adverse event surveillance,safety evaluation based on risk management,and conducting real-world research,research and develop risk control and corrective and preventive measures.
		                        		
		                        		
		                        		
		                        	
6.Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults (version 2024)
Qingde WANG ; Yuan HE ; Bohua CHEN ; Tongwei CHU ; Jinpeng DU ; Jian DONG ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Zhong GUAN ; Hua GUO ; Yong HAI ; Lijun HE ; Dianming JIANG ; Jianyuan JIANG ; Bin LIN ; Bin LIU ; Baoge LIU ; Chunde LI ; Fang LI ; Feng LI ; Guohua LYU ; Li LI ; Qi LIAO ; Weishi LI ; Xiaoguang LIU ; Hongjian LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Yong QIU ; Limin RONG ; Yong SHEN ; Huiyong SHEN ; Jun SHU ; Yueming SONG ; Tiansheng SUN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Hong XIA ; Guoyong YIN ; Jinglong YAN ; Wen YUAN ; Zhaoming YE ; Jie ZHAO ; Jianguo ZHANG ; Yue ZHU ; Yingjie ZHOU ; Zhongmin ZHANG ; Wei MEI ; Dingjun HAO ; Baorong HE
Chinese Journal of Trauma 2024;40(2):97-106
		                        		
		                        			
		                        			Ankylosing spondylitis (AS) combined with lower cervical fracture is often categorized into unstable fracture, with a high incidence of neurological injury and a high rate of disability and morbidity. As factors such as shoulder occlusion may affect the accuracy of X-ray imaging diagnosis, it is often easily misdiagnosed at the primary diagnosis. Non-operative treatment has complications such as bone nonunion and the possibility of secondary neurological damage, while the timing, access and choice of surgical treatment are still controversial. Currently, there are no clinical practice guidelines for the treatment of AS combined with lower cervical fracture with or without dislocation. To this end, the Spinal Trauma Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults ( version 2024) in accordance with the principles of evidence-based medicine, scientificity and practicality, in which 11 recommendations were put forward in terms of the diagnosis, imaging evaluation, typing and treatment, etc, to provide guidance for the diagnosis and treatment of AS combined with lower cervical fracture.
		                        		
		                        		
		                        		
		                        	
7.TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Hai-Yang ZHANG ; Feng-Yao WU ; Xue-Song LI ; Ping-Hui TU ; Cao-Xu ZHANG ; Rui-Meng YANG ; Ren-Jie CUI ; Chen-Yang WU ; Ya FANG ; Liu YANG ; Huai-Dong SONG ; Shuang-Xia ZHAO
Annals of Laboratory Medicine 2024;44(4):343-353
		                        		
		                        			 Background:
		                        			Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes. 
		                        		
		                        			Methods:
		                        			In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity. 
		                        		
		                        			Results:
		                        			Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants. 
		                        		
		                        			Conclusions
		                        			We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH. 
		                        		
		                        		
		                        		
		                        	
8.Effect of Irradiation Sterilization on the Quality of Rubus Chingii Hu
Ziqian CAI ; Wenting ZHANG ; Ting DONG ; Xinmei CHENG ; Lifeng HANG ; Sheng DING ; Zengxi GUO ; Cuifen FANG ; Bilian CHEN
Chinese Journal of Modern Applied Pharmacy 2024;41(9):1222-1228
		                        		
		                        			OBJECTIVE 
		                        			To study the effect of 60Co-γ irradiation on the sterilization effect and main components of Rubus chingii Hu.
METHODS 
Irradiated Rubus chingii Hu by 0, 6, 10, 15, 30 kGy doses of 60Co-γ, used the microbial count method to determine the microbial level of Rubus chingii Hu before and after irradiation. Analyzed the components of Rubus chingii Hu by high resolution mass spectrometry, investigated the effects of irradiation on the quality of Rubus chingii Hu by comparing the components of Rubus chingii Hu samples before and after irradiation, analyzing the quantitative results of ellagic acid and kaempferol 3-O-yunxiangoside, and evaluating the similarity of fingerprints.
RESULTS 
The results of microbial examination of Rubus chingii Hu after different doses of irradiation all met the requirements, cluster analysis and principal component analysis of 20 components showed no significant difference. And there was no significant difference in the contents of ellagic acid and kaempferol 3-O-glucoside before and after irradiation. The similarity of fingerprints before and after irradiation was between 0.995 and 1.000.
CONCLUSION 
Irradiation can effectively control the microbial level in Rubus chingii Hu, and there is no significant effect on the chemical composition of Rubus chingii Hu, the results provide a basis for the application of irradiation in the sterilization process of Rubus chingii Hu.
		                        		
		                        		
		                        		
		                        	
9.Early result of postoperative echocardiographic evaluation in 28 patients underwent left ventricular assist device implantation
Yong LIN ; Guican ZHANG ; Xiaofu DAI ; Qianzhen LI ; Guanhua FANG ; Zhihuang QIU ; Heng LU ; Yi DONG ; Liangwan CHEN
Chinese Journal of Thoracic and Cardiovascular Surgery 2024;40(1):7-11
		                        		
		                        			
		                        			Objective:To extract the early result of postoperative echocardiographic evaluation in patients underwent left ventricular assist device (LVAD) implantation, and to assess the efficacy of surgical treatment for end-staged heart failure.Methods:Between June 2019 and May 2023, the patients underwent left ventricular assist device implantation were enrolled in this study. Demographic baseline characteristics and perioperative echocardiographic parameters were collected and analyzed.Results:A total of 28 patients were included in the study. After LVAD implantation, the heart sizes of the patients obviously reduced and the left heart contractibility function improved. The right ventricular contractibility remained stable. The proportion of the patients with moderate to severe mitral regurgitation was significantly reduced, but patients with mild to moderate aortic insufficiency increased. No serious complications such as death, pericardial tamponade and thrombosis events were observed during the follow-up period.Conclusion:LVAD implantation improved the left cardiac function, while the right cardiac function remained stable. However, it should be paid attention that the aortic valve function was impaired after the surgery. Generally, the early results of LVAD implantation for the treatment of end-stage heart failure were satisfactory.
		                        		
		                        		
		                        		
		                        	
10.Clinical significance of nucleolar antinuclear antibodies associated with the nucleolar immunofluorescence pattern in autoimmune disease
Congcong DING ; Xi WANG ; Fang LIN ; Le YU ; Hui CHEN ; Ke DONG
International Journal of Laboratory Medicine 2024;45(1):29-33
		                        		
		                        			
		                        			Objective To explore the clinical significance of nucleolar antinuclear antibodies(ANA)in re-lated diseases.Methods This study was a retrospective study.Clinical samples of 71780 patients who visited the hospital from January 2017 to May 2022 were collected.Indirect immunofluorescence was used to detect ANA in clinical samples.Statistical analysis was conducted on the positivity rate of nucleolar ANA in clinical patients,as well as the relevant clinical information and laboratory characteristics of patients with autoimmune diseases(AID)with nucleolar ANA positivity.Results Among 71780 patients who underwent routine ANA testing,16778 were positive for ANA,with a positive rate of 23.37%.Among them,there were 1 708 cases of nucleolar type,accounting for 2.38%of all routine ANA tests,and the proportion of ANA positive cases was 10.18%.There was a statistically significant difference in the positive rate of nucleolar ANA between patients of different genders in the>20-<50 year old group and the ≥ 50 year old group(P<0.05),while there was no statistically significant difference in the positive rate of nucleolar ANA between patients of different genders in the ≤ 20 year old group(P>0.05).There was a statistically significant difference in the positivity rate of nucleolar ANA among women of different age groups(P<0.05),among them,the highest positive rate of nucleolar ANA was found in women aged between 20 and 50 years old.There was no statistically significant difference in the positive rate of nucleolar ANA among males of different age groups(P>0.05).The positivi-ty rate of ANA was the highest among patients in the Department of Rheumatology and Immunology(70.35%),but nucleolar ANA positivity was mainly seen in departments such as Reproductive Medicine Cen-ter(12.90%),Respiratory Medicine(12.40%),and Neurology(11.29%),and the difference in positivity rates between departments was statistically significant(P<0.05).Out of 1 708 nucleolar ANA positive indi-viduals,420 underwent ANA titers,including 34 AID patients and 386 non AID patients.There was no statis-tically significant difference in nucleolus positive titers between non AID patients and AID patients(P>0.05).Conclusion The nucleolus type is a common fluorescence pattern in ANA positive individuals,and there are gender and age differences in ANA positive individuals.The positive rate and titer of nucleolar ANA vary among different AID diseases.Combined with other immune function indicators,and it is helpful for early differential diagnosis of AID.
		                        		
		                        		
		                        		
		                        	
            

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