1.Serum LncRNA HOTAIR and LncRNA HOXA11-AS Levels and Their Relationship with Cognitive Function in Patients with Traumatic Brain Injury
Baowei GENG ; Gutao PENG ; Feng WANG ; Sijiang LIU ; Fan YANG ; Tingjun TANG
Journal of Modern Laboratory Medicine 2025;40(2):87-91
Objective To investigate the serum levels of long non-coding RNA(lncRNA)HOX transcript antisense RNA(HOTAIR)and homeobox A11 antisense RNA(LncRNA HOXA11-AS)in patients with traumatic brain injury(TBI),and their relationship with cognitive function.Methods From January 2022 to December 2023,106 TBI patients who visited Fuling Hospital Affiliated to Chongqing University were regarded as the TBI group.They were separated into a cognitive impairment group(n=44)and a non-cognitive impairment group(n=62)based on whether they experienced cognitive impairment.78 healthy individuals who underwent physical examinations in Fuling Hospital Affiliated to Chongqing University were regarded as the control group.Real-time fluorescence quantitative PCR(qRT-DCR)method was applied to detect serum LncRNA HOTAIR and LncRNA HOXA11-AS levels.Spearman and Pearson methods were used to analyze the correlation between serum LncRNA HOTAIR and LncRNA HOXA11-AS levels,cognitive function,and inflammatory factors in TBI patients.Receiver operating characteristic(ROC)curve was applied to analyze the predictive value of serum LncRNA HOTAIR and LncRNA HOXA11-AS for cognitive impairment in TBI patients.Logistic regression was applied to analyze the impacts of serum LncRNA HOTAIR and LncRNA HOXA11-AS expression on cognitive impairment after TBI.Results Compared with the control group,the expression levels of serum LncRNA HOTAIR(1.75±0.29 vs 1.03±0.15)and LncRNA HOXA11-AS(1.59±0.35 vs 0.99±0.18)in the TBI group were significantly increased,and the differences were statistically significant(t=20.034,13.846,all P<0.05).The cognitively impaired group had significantly higher serum LncRNA HOTAIR,LncRNA HOXA11-AS,tumor necrosis factor-α(TNF-α),interleukin 1β(IL-1β)and interleukin 6(IL-6)levels were significantly higher in the cognitive impairment group than in the group without cognitive impairment(t=3.011~9.615),and Montreal Cognitive Assessment(MoCA)scale was considerably lower than that of the no cognitive impairment group(t=17.633),and the differences were statistical significance(all P<0.05).Spearman correlation analysis showed that the expression levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS in TBI patients were negatively correlated with MoCA scores(r=-0.515,-0.430,all P<0.001),Pearson correlation analysis showed that the expression levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS were positively correlated with TNF-α,IL-1βand IL-6 levels(r=0.423,0.397,0.452,0.437,0.512,0.390,all P<0.001).The AUC(95%CI)of serum LncRNA HOTAIR and LncRNA HOXA11-AS alone and in combination predicted cognitive impairment after TBI was 0.896(0.822~0.947),0.864(0.784~0.923)and 0.960(0.903~0.988),respectively,the combined predictive value of the two was better than that of individual prediction(Z=2.457,2.998,all P<0.05).Logistic regression analysis showed that elevated expression levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS were risk factors for cognitive impairment in TBII patients,while MoCA score was a protective factor(all P<0.05).Conclusion The levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS have certain value in the functional impairment of TBI patients,and they may participate in the occurrence and progression of cognitive impairment in TBI patients by regulating the levels of inflammatory factors in the body.
2.Regulatory roles of DGAT and PDAT genes in plant oil synthesis.
Yang WU ; Mengjuan LIU ; Youning WANG ; Dexiao LI ; Yuhua YANG ; Tingjun ZHANG ; Huiwen ZHOU
Chinese Journal of Biotechnology 2025;41(1):216-229
There is a large gap between production and demand of plant oil in China, which leads to the heavy reliance on imports. Diacylglycerol acyltransferase (DGAT) and phospholipid: diacylglycerol acyltransferase (PDAT) are two key enzymes responsible for the synthesis of triacylglycerol, thereby affecting the yield and quality of plant oil. This paper comprehensively reviews the research progress in DGAT and PDAT in terms of their biological functions in plant oil synthesis, the molecular mechanisms of regulating plant lipid metabolism, growth, and development under stress, and their roles in driving oil synthesis under the background of synthetic biology. Furthermore, future research and application of DGAT and PDAT are prospected. This review aims to provide a basis for deeply understanding the molecular mechanism of plant oil synthesis and improving the quality and productivity of oil crops by the utilization of DGAT and PDAT genes.
Diacylglycerol O-Acyltransferase/physiology*
;
Plant Oils/metabolism*
;
Acyltransferases/metabolism*
;
Lipid Metabolism/genetics*
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Gene Expression Regulation, Plant
;
Triglycerides/biosynthesis*
3.Clinical effect of indocyanine green angiography-assisted design and harvest of expanded flaps for scar reconstruction
Yanan HU ; Tingjun XIE ; Yuanbo LIU ; Shan ZHU ; Zengjie YANG ; Jia TIAN ; Cheng GAN ; Hu JIAO ; Shanshan LI ; Zixiang CHEN ; Lu ZHOU ; Bing HAN ; Shengyang JIN ; Yan ZENG ; Miao WANG ; Mengqing ZANG
Chinese Journal of Burns 2025;41(4):341-347
Objective:To investigate the clinical effect of indocyanine green angiography (ICGA)-assisted design and harvest of expanded flaps for scar reconstruction.Methods:This study was a retrospective observational study. From April 2019 to August 2023, 19 patients with scars (8 males, 11 females; aged 3-38 years) treated at the Plastic Surgery Hospital of Peking Union Medical College and Chinese Academy of Medical Sciences met the inclusion criteria. The scars were distributed on the head, face, trunk, and extremities. In stage Ⅰ surgery, skin soft tissue expanders were implanted in suitable areas around the scars for skin soft tissue expansion. In stage Ⅱ surgery, the scar tissue was excised, resulting in wound areas ranging from 100 to 210 cm 2, and expanded flaps were designed. ICGA was used to identify target perforators and their accompanying veins, and the flap design was adjusted to ensure the inclusion of complete arterial and venous axes. The expanded flap with an area of 120 to 240 cm2 was harvested using unilateral back-cut technique and transferred to the recipient site, and the donor site wound was sutured directly. The durations of the arterial and venous phases of ICGA during flap design were recorded. The length-to-width ratios of the back-cut flaps were calculated for different regions. After stage Ⅱ surgery, the blood perfusion and survival of the flap, the wound healing at the donor site, and the occurrence of complications were observed. During follow-up, the appearance, color, and texture of the patient's flap were observed. Results:The arterial phase of ICGA lasted 10-27 (18±5) s, and the venous phase lasted 78-116 (100±10) s. The length-to-width ratios of the back-cut flaps were 1.22±0.32, 1.63±0.12, and 1.15±0.21 for the head and neck, trunk, and limb regions, respectively. After stage Ⅱ surgery, one patient had a large area of insufficient blood perfusion in the flap. By comparing ICGA images before and after flap transfer, the sutures at the oral commissure were loosened, the blood flow of the flap was restored. The blood perfusion of the flaps in other patients was good. All flaps survived completely, with well-healed donor site wounds and no complications. During 0.5-14.0 months of follow-up, all flaps of patients demonstrated excellent appearance, with color and texture matching the surrounding skin.Conclusions:As a means of superficial blood flow visualization, ICGA can not only clearly show the microvascular distribution of the expanded flap before operation, assist in optimizing the design of the flap, but also evaluate the blood perfusion of the flap after operation, reduce the occurrence of complications, and provide a full-process navigation for the harvesting of expanded flaps, thereby improving the safety of flap transfer for scar reconstruction.
4.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
5.Serum LncRNA HOTAIR and LncRNA HOXA11-AS Levels and Their Relationship with Cognitive Function in Patients with Traumatic Brain Injury
Baowei GENG ; Gutao PENG ; Feng WANG ; Sijiang LIU ; Fan YANG ; Tingjun TANG
Journal of Modern Laboratory Medicine 2025;40(2):87-91
Objective To investigate the serum levels of long non-coding RNA(lncRNA)HOX transcript antisense RNA(HOTAIR)and homeobox A11 antisense RNA(LncRNA HOXA11-AS)in patients with traumatic brain injury(TBI),and their relationship with cognitive function.Methods From January 2022 to December 2023,106 TBI patients who visited Fuling Hospital Affiliated to Chongqing University were regarded as the TBI group.They were separated into a cognitive impairment group(n=44)and a non-cognitive impairment group(n=62)based on whether they experienced cognitive impairment.78 healthy individuals who underwent physical examinations in Fuling Hospital Affiliated to Chongqing University were regarded as the control group.Real-time fluorescence quantitative PCR(qRT-DCR)method was applied to detect serum LncRNA HOTAIR and LncRNA HOXA11-AS levels.Spearman and Pearson methods were used to analyze the correlation between serum LncRNA HOTAIR and LncRNA HOXA11-AS levels,cognitive function,and inflammatory factors in TBI patients.Receiver operating characteristic(ROC)curve was applied to analyze the predictive value of serum LncRNA HOTAIR and LncRNA HOXA11-AS for cognitive impairment in TBI patients.Logistic regression was applied to analyze the impacts of serum LncRNA HOTAIR and LncRNA HOXA11-AS expression on cognitive impairment after TBI.Results Compared with the control group,the expression levels of serum LncRNA HOTAIR(1.75±0.29 vs 1.03±0.15)and LncRNA HOXA11-AS(1.59±0.35 vs 0.99±0.18)in the TBI group were significantly increased,and the differences were statistically significant(t=20.034,13.846,all P<0.05).The cognitively impaired group had significantly higher serum LncRNA HOTAIR,LncRNA HOXA11-AS,tumor necrosis factor-α(TNF-α),interleukin 1β(IL-1β)and interleukin 6(IL-6)levels were significantly higher in the cognitive impairment group than in the group without cognitive impairment(t=3.011~9.615),and Montreal Cognitive Assessment(MoCA)scale was considerably lower than that of the no cognitive impairment group(t=17.633),and the differences were statistical significance(all P<0.05).Spearman correlation analysis showed that the expression levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS in TBI patients were negatively correlated with MoCA scores(r=-0.515,-0.430,all P<0.001),Pearson correlation analysis showed that the expression levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS were positively correlated with TNF-α,IL-1βand IL-6 levels(r=0.423,0.397,0.452,0.437,0.512,0.390,all P<0.001).The AUC(95%CI)of serum LncRNA HOTAIR and LncRNA HOXA11-AS alone and in combination predicted cognitive impairment after TBI was 0.896(0.822~0.947),0.864(0.784~0.923)and 0.960(0.903~0.988),respectively,the combined predictive value of the two was better than that of individual prediction(Z=2.457,2.998,all P<0.05).Logistic regression analysis showed that elevated expression levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS were risk factors for cognitive impairment in TBII patients,while MoCA score was a protective factor(all P<0.05).Conclusion The levels of serum LncRNA HOTAIR and LncRNA HOXA11-AS have certain value in the functional impairment of TBI patients,and they may participate in the occurrence and progression of cognitive impairment in TBI patients by regulating the levels of inflammatory factors in the body.
6.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
7.Clinical effect of indocyanine green angiography-assisted design and harvest of expanded flaps for scar reconstruction
Yanan HU ; Tingjun XIE ; Yuanbo LIU ; Shan ZHU ; Zengjie YANG ; Jia TIAN ; Cheng GAN ; Hu JIAO ; Shanshan LI ; Zixiang CHEN ; Lu ZHOU ; Bing HAN ; Shengyang JIN ; Yan ZENG ; Miao WANG ; Mengqing ZANG
Chinese Journal of Burns 2025;41(4):341-347
Objective:To investigate the clinical effect of indocyanine green angiography (ICGA)-assisted design and harvest of expanded flaps for scar reconstruction.Methods:This study was a retrospective observational study. From April 2019 to August 2023, 19 patients with scars (8 males, 11 females; aged 3-38 years) treated at the Plastic Surgery Hospital of Peking Union Medical College and Chinese Academy of Medical Sciences met the inclusion criteria. The scars were distributed on the head, face, trunk, and extremities. In stage Ⅰ surgery, skin soft tissue expanders were implanted in suitable areas around the scars for skin soft tissue expansion. In stage Ⅱ surgery, the scar tissue was excised, resulting in wound areas ranging from 100 to 210 cm 2, and expanded flaps were designed. ICGA was used to identify target perforators and their accompanying veins, and the flap design was adjusted to ensure the inclusion of complete arterial and venous axes. The expanded flap with an area of 120 to 240 cm2 was harvested using unilateral back-cut technique and transferred to the recipient site, and the donor site wound was sutured directly. The durations of the arterial and venous phases of ICGA during flap design were recorded. The length-to-width ratios of the back-cut flaps were calculated for different regions. After stage Ⅱ surgery, the blood perfusion and survival of the flap, the wound healing at the donor site, and the occurrence of complications were observed. During follow-up, the appearance, color, and texture of the patient's flap were observed. Results:The arterial phase of ICGA lasted 10-27 (18±5) s, and the venous phase lasted 78-116 (100±10) s. The length-to-width ratios of the back-cut flaps were 1.22±0.32, 1.63±0.12, and 1.15±0.21 for the head and neck, trunk, and limb regions, respectively. After stage Ⅱ surgery, one patient had a large area of insufficient blood perfusion in the flap. By comparing ICGA images before and after flap transfer, the sutures at the oral commissure were loosened, the blood flow of the flap was restored. The blood perfusion of the flaps in other patients was good. All flaps survived completely, with well-healed donor site wounds and no complications. During 0.5-14.0 months of follow-up, all flaps of patients demonstrated excellent appearance, with color and texture matching the surrounding skin.Conclusions:As a means of superficial blood flow visualization, ICGA can not only clearly show the microvascular distribution of the expanded flap before operation, assist in optimizing the design of the flap, but also evaluate the blood perfusion of the flap after operation, reduce the occurrence of complications, and provide a full-process navigation for the harvesting of expanded flaps, thereby improving the safety of flap transfer for scar reconstruction.
8.Prevalence of Echinococcus infections in small rodents in Yushu City, Qinghai Province in 2023
Gengcheng HE ; Shusheng WU ; Xianglan QIN ; Jilong MA ; Tingjun YU ; Chengxi SONG ; Xiaojin MO ; Xiao MA ; Jianfeng BA ; Guirong ZHENG ; Bin JIANG ; Tian TIAN ; Shijie YANG ; Ting ZHANG ; Xiaonong ZHOU
Chinese Journal of Schistosomiasis Control 2024;36(2):169-173
Objective To investigate the prevalence of Echinococcus infections in small rodents around human residential areas in Yushu City, Qinghai Province in 2023, so as to provide insights into precision echinococcosis control. Methods One or two quadrats, each measuring 50 m × 50 m, were randomly assigned in Shanglaxiu Township and Longbao Township, Yushu City, Qinghai Province on June 2023, respectively, and 300 plate-type mouse traps, each measuring 12.0 cm × 6.5 cm, were assigned in each quadrat. Small rodents were captured during the period between 10 : 00 and 18 : 00 each day for 4 days. Then, all captured small rodents were identified and dissected, and liver specimens with suspected Echinococcus infections were subjected to pathological examinations. The Echinococcus cytochrome c oxidase 1 (cox1) gene was amplified using PCR assay, and the sequence of the amplified product was aligned to that was recorded in the GenBank to characterize the parasite species. In addition, a phylogenetic tree of Echinococcus was generated based on the cox1 gene sequence using the neighbor-joining method. Results A total of 236 small rodents were captured in Shanglaxiu and Longbao townships, Yushu City, including 65 Qinghai voles and 51 plateau pikas in Shanglaxiu Township, and 62 Qinghai voles and 58 plateau pikas in Longbao Township, and there was no significant difference in the constituent ratio of small rodents between the two townships (χ2 = 0.294, P > 0.05). Seven plateau pikas and 12 Qinghai voles were suspected to be infected with Echinococcus by dissection, and pathological examinations showed unclear structure of hepatic lobules and disordered hepatocyte arrangement in livers of small rodents suspected of Echinococcus infections. PCR assay identified E. shiquicus DNA in 7 Qinghai voles, which were all captured from Shanglaxiu Township. Phylogenetic analysis showed that the cox1 gene sequence of Echinococcus in small rodents was highly homologous to the E. shiquicus cox1 gene sequence reported previously. Conclusion Plateau pika and Qinghai vole were predominant small rodents around human residential areas in Yushu City, Qinghai Province in 2023, and E. shiquicus infection was detected in Qinghai voles.
9.The Effects of the Intelligent Hearing-assistive System on Hearing Benefits to Cochlear Implant Recipients
Liyang XIANG ; Juanjuan LI ; Yan HAN ; Jinjian WANG ; Dian YANG ; Tingjun YANG ; Li YIN ; Sui HUANG
Journal of Audiology and Speech Pathology 2024;32(1):43-48
Objective To study the effects of the intelligent hearing-assistive system incorporated in Nuro-tron cochlear implants(CI),including the autonomic acoustic scene recognition(ASR),intelligent strategy config-uration as well as the objective and subjective hearing improvements on recipients.Methods ① To evaluate the per-formance of the ASR matule,in a sound-proof room,the preset five kinds of test audios,including speech,noise,speech in noise,pure music(without human voice)and non-pure Music(with human voice)were played.Each type of scenes included 6 to 9 5 min test files.The prediction accuracy and scene switching times were calculated.② In order to evaluate the noise-reduction performance of the ABeam technology in the speech enhancement module,13 Nurotron? CI recipients were recruited and their speech recognition rate when ABeam was"ON"and"OFF"with noise coming from 90°,180°or 270°were tested,individually.Also,their subjective hearing feedback was evaluated through visual analogue scale(VAS)evaluation.Results The ASR module achieved high prediction performance,with prediction accuracy 99%±4%,96%±9%,94%±12%,94%±15%,92%±13%for speech,noise,noisy speech,pure music and non-pure music,respectively.The scene transation times for each individual scene were 1.1 ±0.3,1.4±0.7,1.3±0.5,1.4±0.8 and 1.3±0.5,indicating that the prediction was also stable.When noise came from the sides and behind of recipients and speech signal from the front,the adaptive dual microphone noise re-duction algorithm ABeam significantly increased the speech recognition score(SRS)in 5 dB signal-to-noise(SNR)environment(P<0.001),with an average increase of 15.92%.Especially when the noise came from 180 degree backward,the SRS increased 28.68%when ABeam was"0N",which was significantly higher than when ABeam was"OFF"(P<0.01).Conclusion The intelligent hearing-assistive system can help CI recipients automatically configure appropriate SPSs under different environments,improving the speech intelligibility and hearing comfort.
10.Clinical, muscle pathology and molecular genetic analysis of myofibrillar myopathy 3 associated with MYOT gene mutation
Guiguan YANG ; Xiaoqing LYU ; Wei LI ; Tingjun DAI ; Dandan ZHAO ; Chuanzhu YAN ; Pengfei LIN
Chinese Journal of Neurology 2023;56(12):1361-1370
Objective:To analyze the clinical phenotypic characteristics, muscle pathology, genetic mutations and related proteins of myofibrillar myopathy 3 caused by mutation in MYOT gene, and to conduct a literature review and summary of this disease. Methods:A retrospective analysis of the clinical phenotypic characteristics, muscle pathology and genetic test results of a patient with myofibrillar myopathy 3 caused by mutation in MYOT gene diagnosed in Qilu Hospital of Shandong University in December 2018 was conducted. Whole exon sequencing was applied to conduct high-throughput screening of pathogenic genes in the patient. After finding candidate pathogenic mutation, Sanger sequencing was applied to verify the mutation sites in the patient and family members. Meanwhile, functional verification was carried out on the mutation sites found in MYOT gene, and the relevant literature was reviewed. Results:The patient was a 47-year-old woman with weakness in her lower limbs for 8 years. Electromyography showed myogenic changes. The muscle pathology suggested that there was deposition of abnormal substances and rimmed vacuoles within some muscle fibers. Gene testing showed that the patient was a carrier of the MYOT gene c.170C>T (p.Thr57Ile) heterozygous mutation, and her son and daughter also carried the same mutation at the same site. The son of the patient had an elevated creatine kinase level and spontaneous potential was occasionally observed on electromyography, while the daughter had no abnormalities. Two younger brothers did not carry the mutation. Protein functional studies suggested that the mutation of MYOT gene c.170C>T mutation can lead to the change of partial spatial structure of myotilin, and the abnormal aggregation of p62 protein and myotilin was involved in the pathogenesis of the disease. Literature review revealed that c.170C>T (p.Thr57Ile) mutation has only been reported in foreign populations. This is the first detailed report on the clinical phenotype, muscle pathology and gene function of MYOT-related myofibrillar myopathy type 3 in China. Conclusions:The clinical manifestations of myofibrillar myopathy type 3 caused by MYOT gene mutation are heterogeneous, mainly manifested as muscle weakness in the distal or proximal extremities. Muscle pathology reveals abnormal protein deposits and rimmed vacuoles within some muscle fibers. Accurate diagnosis of the disease depends on gene detection. The co-localization of p62 protein and myotilin protein provides a new idea for the diagnosis and molecular mechanism research of the disease.

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