1.Protective effects of exogenous IGF-2 on mouse visual cortex plasticity and visual function after monocular form deprivation
Jing FU ; Wen LI ; Zhenghai LIU ; Xilang WANG ; Yuting LIU ; Lijuan TAO ; Yulin LUO
Chinese Journal of Experimental Ophthalmology 2025;43(12):1098-1104
Objective:To investigate the effects of insulin-like growth factor 2 (IGF-2) on the expression of postsynaptic density protein 95 (PSD95), synaptophysin-1 (SYN1), and synaptophysin (SYP) in the mouse visual cortex and visual function after monocular deprivation (MD).Methods:Sixty-four SPF male Kunming mice aged 3 weeks were randomly divided into 4 groups: normal control group, MD group, MD+ IGF-2 recombinant protein (MD+ IGF-2) group, and MD+ fluoxetine (FLX) group, with 16 mice in each group.The MD group, MD+ IGF-2 group and MD+ FLX group were treated with right eyelid suturing at the beginning of 3 weeks old and eyelid opening at the end of 5 weeks old.The MD+ IGF-2 group was intraperitoneally injected with IGF-2 recombinant protein during MD.The MD+ FLX group was given fluoxetine via drinking water for 4 weeks after eyelid opening.The normal control group and MD group were injected intraperitoneally with bovine serum albumin every day from 3 to 5 weeks of age.At the end of 5 and 9 weeks of age, subjective visual function was evaluated by fore paw touching ground reflex experiment.At the end of 9 weeks of age, objective visual function was assessed by flash visual evoked potentials.After the mice were sacrificed, the left visual cortex of mice in each group was taken, and the expression of PSD95, SYN1, and SYP was assessed by Western blot.This study was approved by the Ethics Committee of Hunan Children's Hospital (No.HCHDWLL-2022-16). The handling of experimental animals was carried out in accordance with the Guidelines for the Management and Use of Laboratory Animals in Hunan Children's Hospital.Results:At the end of 5 and 9 weeks of age, there were overall significant differences in the success rate of fore paw touching ground among different groups of mice ( F=4.83, 3.36; both P<0.05). At the end of 5 weeks of age, the success rate was lower in MD group and MD+ FLX group than in normal control group, and significantly higher in MD+ IGF-2 group than in MD group, with statistically significant differences (all P<0.05). At the end of 9 weeks of age, the success rate was lower in MD group than in normal control group, and significantly higher in MD+ IGF-2 group and MD+ FLX group than in MD group (all P<0.05). There was a significant overall difference in P2 wave amplitude in F-VEP examination among different groups of mice ( F=13.99, P<0.01). The P2 wave amplitude was significantly lower in MD group than in normal control group and MD+ IGF-2 group (both P<0.01). There was no significant difference in the P2 wave latency of F-VEP among the four groups of mice ( F=2.83, P=0.07). The relative expression levels of PSD95, SYN1 and SYP proteins were 1.00±0.41, 1.00±0.10 and 1.00±0.27 in normal control group, 0.32±0.27, 0.68±0.20 and 0.56±0.28 in MD group, 0.78±0.32, 0.91±0.18 and 0.94±0.22 in MD+ IGF-2 group, 0.89±0.65, 0.98±0.28 and 0.94±0.47 in MD+ FLX group, respectively.There were significant differences in levels of PSD95, SYN1 and SYP in mice visual cortex among different groups ( F=4.24, 5.32, 3.40; all P<0.05). The expressions of PSD95, SYN1 and SYP proteins in the visual cortex were lower in MD group than in normal control group, and higher in MD+ IGF-2 group than in MD group (all P<0.05). Conclusions:Administration of exogenous IGF-2 to mice that underwent MD during the critical period can maintain visual cortex plasticity and protect the visual function to a certain extent.
2.Correlation between 25-hydroxyvitamin D and cardiac autonomic nervous function in patients with type 2 diabetes mellitus
Hongmei MA ; Junde MA ; Zhenya WU ; Feiru WANG ; Lijuan WANG ; Shengnan LIU ; Huihui TANG ; Wen YANG ; Ziqiong WANG ; Wenjing HE ; Ruifei YANG ; Qian GUO ; Jinyang WANG
Chinese Journal of Diabetes 2025;33(5):321-327
Objective To investigate the predictive value of bone metabolism parameters on cardiac autonomic nervous system function in patients with type 2 diabetes mellitus(T2DM).Methods A total of 328 patients with T2DM hospitalized in the Department of Endocrinology of Gansu Provincial People's Hospital were enrolled in this study from October 2022 to October 2023.According to the serum 25(OH)D level,all the participants were divided into<10 ng/ml group(n=80),10~20 ng/ml group(n=173),and 20~30 ng/ml group(n=75).Biochemical indicators,bone metabolic parameters,left ventricular mass(LVM)and left ventricular mass index(LVMI)were compared.Time domain indicators ofheart rate variability(HRV)in 24 h holter electrocardiogram,including the global standard deviation of normal sinus RR interval(SDNN),sinus RR interval mean standard deviation(SDANN),and normal continuous sinus RR interval difference root mean square(RMSSD).Meanwhile,adjacent RR interval difference>50 ms as a percentage of the total inter-period(PNN50),HRV triangle index,standard deviation of the difference between the length of the entire adjacent NN interperiod(SDSD),and 24 h holter electrocardiogram HRV time-domain relevant indicators were compared among the three groups.The influence of bone metabolism parameters on cardiac autonomic nervous function and their correlation were analyzed,and the optimal cutting point of cardiac autonomic nervous function was predicted by receiver operating characteristic(ROC)curve.Results SBP,heart rate(HR),FPG,PWV,PTH and β-CTX in groups of 10 ng/ml,10~20 ng/ml and 20~30 ng/ml decreased in turn(P<0.05),while HDL-C,ABI,25(OH)D,Ca2+and PNN50 decreased.Correlation analysis between Spearman and Pearson showed that 25(OH)D was positively correlated with SDNN,HRV triangle index,PNN50 and rMSSD(P<0.01).Logistic regression analysis showed that 25(OH)D,Ca2+and HR were the influencing factors of cardiac autonomic nervous dysfunction in patients with T2DM.The ROC curve analysis showed that the areas under the ROC curve of 25(OH)D,Ca2+and HR were 0.791,0.607 and 0.629,respectively,with sensitivity of 73.4%,53.2%and 38.7%,and specificity of 74.0%,93.6%and 81.4%,respectively.Conclusions 25(OH)D is the influencing factor of cardiac autonomic nervous dysfunction in patients with T2DM,and patients with high degree of deficiency are more prone to cardiac autonomic nervous dysfunction.
3.Disease burden of respiratory syncytial virus-associated lower respiratory tract infection in Chinese children under one year of age: an analysis based on the Global Burden of Disease 2021 database
Wen JIN ; Ying XU ; Zhaokui ZHU ; Li HUANG ; Lijuan QIAN
Chinese Journal of Perinatal Medicine 2025;28(12):1042-1051
Objective:To analyze the disease burden of respiratory syncytial virus (RSV)- associated lower respiratory tract infection (LRTI) in Chinese children under one year of age from 1990 to 2021.Methods:Using the Global Burden of Disease (GBD) 2021 database ( https://vizhub.healthdata.org/gbd-results/), we calculated deaths, mortality, age-standardized mortality rates (ASMR), disability- adjusted life years (DALYs), DALY rates, and age-standardized DALY rates (ASDR) to assess the disease burden of RSV-associated LRTI in Chinese children under one year of age. Joinpoint regression modeling was employed to analyze temporal trends in disease burden in China from 1990 to 2021, with stratification by time, age, and sex. Comparisons were made with global and high socio-demographic index (SDI) regions. Results:In 2021, there were 324 deaths (95% UI: 179-539) from RSV-LRTI in Chinese infants under one year of age, with a mortality rate of 2.82 per 100 000 (95% UI: 1.55-4.69), ASMR of 0.10 per 100 000 (95% UI: 0.06-0.16), DALYs of 29 131.28 years (95% UI: 16 050.27-48 398.30), DALY rate of 253.56 per 100 000 (95% UI: 139.70-421.26), and ASDR of 6.70 per 100 000 (95% UI: 3.72-11.12). All metrics were lower than global levels but significantly higher than high-SDI regions. From 1990 to 2021, substantial reductions were observed in deaths, mortality rates, DALYs, and DALY rates of RSV-LRTI among children under one year of age in China, globally, and in high-SDI regions. China achieved ASMR and ASDR reductions of-95.91% (95% CI:-97.75% to-92.96%) and-96.70% (95% CI:-98.19% to-94.33%), comparable to high-SDI regions but exceeding global averages. Joinpoint analysis showed average annual percentage changes (AAPC) in ASMR of-9.80% (95% CI:-10.45% to-9.14%) for China,-5.38% (95% CI:-5.83% to-4.91%) globally, and-7.13% (95% CI:-9.07% to-5.14%) for high-SDI regions (all P<0.001). The AAPC for ASDR were-10.41% (95% CI:-11.01% to-9.79%),-5.40% (95% CI:-5.82% to-4.97%), and-7.09% (95% CI:-9.70% to-4.41%) for China, the global average, and high-SDI regions, respectively, with the most pronounced decline occurring between 2019 and 2021 (ASMR decreased by 53.33%, 45.81%, and 61.31%, while ASDR declined by 52.50%, 44.54%, and 58.88% in China, globally, and in high-SDI regions, respectively). In 2021, both China and high-SDI regions exhibited declining mortality and DALY rates for RSV-LRTI with increasing age among children under one year, while neonates younger than 28 days consistently demonstrated the highest burden metrics. The rate of decline was comparable between China and high-SDI regions, with both exceeding the global average. Furthermore, from 1990 to 2021, male infants under one year of age in China, globally, and in high-SDI regions consistently showed higher overall trends in deaths, mortality rates, DALY, and DALY rates for RSV-LRTI compared to female infants. Conclusions:Although China's RSV-LRTI disease burden in infants under one year remains lower than global levels but higher than high-SDI regions, the country achieved reduction rates comparable to high-SDI regions, exceeding global averages. RSV-LRTI continue to pose significant health threats to neonates and male infants, necessitating age-specific and sex-specific prevention strategies.
4.Study on protection of cerebral ischemia-reperfusion injury by HSYA activated neuronal autophagy based on SIRT1
Lijuan SONG ; Ruheng WEI ; Yaoyao DAI ; Jianlin HUA ; Mengwei RONG ; Cunyan DAN ; Chunli WEN ; Tianqing XIA ; Ce ZHANG ; Baoguo XIAO ; Cungen MA
Chinese Journal of Immunology 2025;41(6):1350-1357
Objective:To investigate effect and mechanism of hydroxysafflor yellow A(HSYA)activating neuronal autophagy on cerebral ischemia-reperfusion injury through a combination of in vitro and in vivo experiments.Methods:SD rat MCAO/R model was established by improved suture method.Rats were randomly divided into sham surgery(Sham)group,MCAO/R group and MCAO/R+HSYA group,following indicators were detected to determine extent of cerebral ischemia-reperfusion nerve damage:Z-Longa neu-rological function score was detected,TTC staining to measure cerebral infarction area,and TUNEL staining to measure cell apopto-sis;Western blot was used to detect protein expressions of autophagy related markers LC3,Beclin1,P62 and SIRT1 in rat brain tis-sue;immunofluorescence staining was used to observe expression of LC3 co-localization with neurons.OGD/R injury model of SH-SY5Y cells was established and randomly divided into Normal group,OGD/R group,OGD/R+HSYA group,OGD/R+SIRT1 inhibitor(EX-527)group and OGD/R+EX-527+HSYA group.Western blot was used to detect protein expressions of LC3,Beclin1,P62 and SIRT1.Results:Compared with Sham group,model group rats showed impaired neurological function,significantly increased neu-robehavioral scores,widespread cerebral infarction,significantly increased neuronal cell apoptosis,significantly increased autophagy related protein Beclin1 expression and LC3-Ⅱ/LC3-Ⅰ,significantly decreased P62 expression,significantly increased LC3/NeuN co-stained cells,and decreased SIRT1 expression;compared with model group,HSYA intervention group showed a significant decrease in neurological functional scores,a significant reduction in cerebral infarction area,a significant decrease in neuronal cell apoptosis,a further increase in Beclin1 expression and LC3-Ⅱ/LC3-Ⅰ,a further decrease in P62 expression,number of LC3/NeuN and P62/NeuN co-stained cells also increased,and SIRT1 expression significantly increased.Expression trends of Beclin1,LC3-Ⅱ/LC3-Ⅰ,P62 and SIRT1 of cells between normal group,model group and HSYA intervention group were same as animal experiment;compared with model group,expressions of SIRT1,Beclin1 and LC3-Ⅱ/LC3-Ⅰ in OGD/R+EX-527 group were significantly reduced,while expression of P62 was significantly increased;compared with OGD/R+EX-527 group,there was no significant change in SIRT1 expression in OGD/R+EX-527+HSYA group,LC3-Ⅱ/LC3-Ⅰ and Beclin1 expression were significantly increased,and P62 expres-sion was significantly decreased.Conclusion:HSYA can significantly improve neurological deficits in rats after cerebral ischemia-reperfusion,reduce cerebral infarction area,and decrease neuronal cell apoptosis rate,whose neuroprotective effect may be related to its activation of SIRT1,which significantly enhances neuronal autophagy.
5.Advances in the application of dual-task training in older adults with cognitive frailty
Chunhao DAI ; Wen LI ; Teng YANG ; Minmin LENG ; Luyao YAN ; Ziting XU ; Haoyuan LI ; Lijuan YANG
Chinese Journal of Modern Nursing 2025;31(28):3915-3920
Cognitive frailty, a novel concept in geriatric medicine, has become a focal point of recent research. Dual-task training, which innovatively integrates physical activity with cognitive rehabilitation, has shown promise in simultaneously enhancing motor function and cognitive performance in older adults with cognitive frailty. This review summarizes the concept of dual-task training, its application modalities, and its effectiveness in this population. It also proposes strategies for further implementation, aiming to provide a reference for future research and practical applications of dual-task training in cognitively frail older adults.
6.Cross-sectional survey of healthcare-associated infection in 5 736 medical institutions across China in 2024
Cui ZENG ; Wuqiang GAO ; Fu QIAO ; Hui ZHAO ; Xu FANG ; Linping LI ; Xiuwen CHEN ; Jiansen CHEN ; Dan LI ; Yuan ZHOU ; Lingli YU ; Qinglan MENG ; Xia MOU ; Lijuan XIONG ; Weiguang LI ; Ding LIU ; Jiaqing XIAO ; Limei OU ; Baozhen LI ; Jun YIN ; Haojun ZHANG ; Qiang FU ; Qun LU ; Biao WU ; Ya-wei XING ; Shumei SUN ; Shuncai WANG ; Longmin DU ; Jingping ZHANG ; Wen-ying HE ; Gui CHENG ; Nan REN ; Xun HUANG ; Anhua WU
Chinese Journal of Infection Control 2025;24(11):1572-1583
Objective To understand the current situation of healthcare-associated infection(HAI)in China,pro-vide data support and decision-making basis for formulating scientific and effective strategies for HAI prevention and control.Methods A nationwide cross-sectional survey on HAI was conducted among various types and levels of medical institutions in China according to a unified protocol of bedside surveys and case investigations.Results In 2024,a total of 5 736 medical institutions and 2 751 765 patients were surveyed.Among them,34 889 HAI cases were identified,with a prevalence rate of 1.27%.The number of HAI episodes was 38 032,and case prevalence rate was 1.38%.The prevalence rate of HAI in medical institutions in different regions of China ranged from 0.66%to 2.35%.Among medical institutions of different scales,those with a bed capacity of ≥900 had the high-est incidence of HAI,reaching 1.65%.The most common infection site was the lower respiratory tract(44.66%),followed by the urinary tract(12.94%),surgical site(9.32%),upper respiratory tract(7.02%),and bloodstream infection(5.78%).The top 3 departments with the highest HAI rates were the general intensive care unit(10.02%),department of neurosurgery(5.51%),and department(group)of hematology(5.34%).A total of 23 238 strains of HAI pathogens were detected,with 10 714 strains(46.10%)from lower respiratory tract speci-mens.The top 5 detected strains were Klebsiella pneumoniae(14.76%),Pseudomonas aeruginosa(13.33%),Escherichia coli(12.79%),Acinetobacter baumannii(9.23%),and Staphylococcus aureus(7.88%).231 944 pa-tients underwent class Ⅰ incision surgery were monitored,with 1 647 cases experienced surgical site infection,and the prevalence rate of surgical site infection was 0.71%.The number of patients who should undergo pathogen de-tection(patients receiving therapeutic and therapeutic combined prophylactic antimicrobial agents)was 715 179,while the actual number was 480 492,with a pathogen detection rate of 67.18%.425 225 patients received patho-genic detection before treatment,with a detection rate of 59.46%.Conclusion The overall HAI prevalence in Chi-na is lower,showing disparities among medical institutions of different regions and scales.Therefore,precise imple-mentation of measures is necessary for HAI prevention and control,with a focus on high-risk institutions and high-risk departments,key areas,and critical procedures.All levels of medical institutions should continuously reduce the incidence of HAI by strengthening monitoring,standardizing the use of antimicrobial agents,and reinforcing basic HAI prevention and control measures.
7.Protective effects of exogenous IGF-2 on mouse visual cortex plasticity and visual function after monocular form deprivation
Jing FU ; Wen LI ; Zhenghai LIU ; Xilang WANG ; Yuting LIU ; Lijuan TAO ; Yulin LUO
Chinese Journal of Experimental Ophthalmology 2025;43(12):1098-1104
Objective:To investigate the effects of insulin-like growth factor 2 (IGF-2) on the expression of postsynaptic density protein 95 (PSD95), synaptophysin-1 (SYN1), and synaptophysin (SYP) in the mouse visual cortex and visual function after monocular deprivation (MD).Methods:Sixty-four SPF male Kunming mice aged 3 weeks were randomly divided into 4 groups: normal control group, MD group, MD+ IGF-2 recombinant protein (MD+ IGF-2) group, and MD+ fluoxetine (FLX) group, with 16 mice in each group.The MD group, MD+ IGF-2 group and MD+ FLX group were treated with right eyelid suturing at the beginning of 3 weeks old and eyelid opening at the end of 5 weeks old.The MD+ IGF-2 group was intraperitoneally injected with IGF-2 recombinant protein during MD.The MD+ FLX group was given fluoxetine via drinking water for 4 weeks after eyelid opening.The normal control group and MD group were injected intraperitoneally with bovine serum albumin every day from 3 to 5 weeks of age.At the end of 5 and 9 weeks of age, subjective visual function was evaluated by fore paw touching ground reflex experiment.At the end of 9 weeks of age, objective visual function was assessed by flash visual evoked potentials.After the mice were sacrificed, the left visual cortex of mice in each group was taken, and the expression of PSD95, SYN1, and SYP was assessed by Western blot.This study was approved by the Ethics Committee of Hunan Children's Hospital (No.HCHDWLL-2022-16). The handling of experimental animals was carried out in accordance with the Guidelines for the Management and Use of Laboratory Animals in Hunan Children's Hospital.Results:At the end of 5 and 9 weeks of age, there were overall significant differences in the success rate of fore paw touching ground among different groups of mice ( F=4.83, 3.36; both P<0.05). At the end of 5 weeks of age, the success rate was lower in MD group and MD+ FLX group than in normal control group, and significantly higher in MD+ IGF-2 group than in MD group, with statistically significant differences (all P<0.05). At the end of 9 weeks of age, the success rate was lower in MD group than in normal control group, and significantly higher in MD+ IGF-2 group and MD+ FLX group than in MD group (all P<0.05). There was a significant overall difference in P2 wave amplitude in F-VEP examination among different groups of mice ( F=13.99, P<0.01). The P2 wave amplitude was significantly lower in MD group than in normal control group and MD+ IGF-2 group (both P<0.01). There was no significant difference in the P2 wave latency of F-VEP among the four groups of mice ( F=2.83, P=0.07). The relative expression levels of PSD95, SYN1 and SYP proteins were 1.00±0.41, 1.00±0.10 and 1.00±0.27 in normal control group, 0.32±0.27, 0.68±0.20 and 0.56±0.28 in MD group, 0.78±0.32, 0.91±0.18 and 0.94±0.22 in MD+ IGF-2 group, 0.89±0.65, 0.98±0.28 and 0.94±0.47 in MD+ FLX group, respectively.There were significant differences in levels of PSD95, SYN1 and SYP in mice visual cortex among different groups ( F=4.24, 5.32, 3.40; all P<0.05). The expressions of PSD95, SYN1 and SYP proteins in the visual cortex were lower in MD group than in normal control group, and higher in MD+ IGF-2 group than in MD group (all P<0.05). Conclusions:Administration of exogenous IGF-2 to mice that underwent MD during the critical period can maintain visual cortex plasticity and protect the visual function to a certain extent.
8.Correlation between 25-hydroxyvitamin D and cardiac autonomic nervous function in patients with type 2 diabetes mellitus
Hongmei MA ; Junde MA ; Zhenya WU ; Feiru WANG ; Lijuan WANG ; Shengnan LIU ; Huihui TANG ; Wen YANG ; Ziqiong WANG ; Wenjing HE ; Ruifei YANG ; Qian GUO ; Jinyang WANG
Chinese Journal of Diabetes 2025;33(5):321-327
Objective To investigate the predictive value of bone metabolism parameters on cardiac autonomic nervous system function in patients with type 2 diabetes mellitus(T2DM).Methods A total of 328 patients with T2DM hospitalized in the Department of Endocrinology of Gansu Provincial People's Hospital were enrolled in this study from October 2022 to October 2023.According to the serum 25(OH)D level,all the participants were divided into<10 ng/ml group(n=80),10~20 ng/ml group(n=173),and 20~30 ng/ml group(n=75).Biochemical indicators,bone metabolic parameters,left ventricular mass(LVM)and left ventricular mass index(LVMI)were compared.Time domain indicators ofheart rate variability(HRV)in 24 h holter electrocardiogram,including the global standard deviation of normal sinus RR interval(SDNN),sinus RR interval mean standard deviation(SDANN),and normal continuous sinus RR interval difference root mean square(RMSSD).Meanwhile,adjacent RR interval difference>50 ms as a percentage of the total inter-period(PNN50),HRV triangle index,standard deviation of the difference between the length of the entire adjacent NN interperiod(SDSD),and 24 h holter electrocardiogram HRV time-domain relevant indicators were compared among the three groups.The influence of bone metabolism parameters on cardiac autonomic nervous function and their correlation were analyzed,and the optimal cutting point of cardiac autonomic nervous function was predicted by receiver operating characteristic(ROC)curve.Results SBP,heart rate(HR),FPG,PWV,PTH and β-CTX in groups of 10 ng/ml,10~20 ng/ml and 20~30 ng/ml decreased in turn(P<0.05),while HDL-C,ABI,25(OH)D,Ca2+and PNN50 decreased.Correlation analysis between Spearman and Pearson showed that 25(OH)D was positively correlated with SDNN,HRV triangle index,PNN50 and rMSSD(P<0.01).Logistic regression analysis showed that 25(OH)D,Ca2+and HR were the influencing factors of cardiac autonomic nervous dysfunction in patients with T2DM.The ROC curve analysis showed that the areas under the ROC curve of 25(OH)D,Ca2+and HR were 0.791,0.607 and 0.629,respectively,with sensitivity of 73.4%,53.2%and 38.7%,and specificity of 74.0%,93.6%and 81.4%,respectively.Conclusions 25(OH)D is the influencing factor of cardiac autonomic nervous dysfunction in patients with T2DM,and patients with high degree of deficiency are more prone to cardiac autonomic nervous dysfunction.
9.Clinical analysis of thyroid lobe as a transfer flap for repairing early pharyngeal fistu-las after total laryngectomy
Du YUSHAN ; Li RUTING ; Wen XIANXUE ; Xiao XUPING ; Liu BIN ; Ma LIJUAN
Chinese Journal of Clinical Oncology 2025;52(5):240-243
Objective:We summarize the clinical characteristics of surgeries in which the thyroid lobe is used as a transfer flap to treat early pharyngeal fistula following total laryngectomy.We also provide useful data for improving the diagnosis and management of this condition.Methods:Retrospective analysis was conducted on data from 8 patients with pharyngocutaneous fistulas after total laryngectomy for laryn-geal and pharyngeal cancer patients admitted to Hunan Provincial People's Hospital(The First Hospital Affiliated to Hunan Normal University)between October 2016 and October 2023.The surgeons performed a double-layer repair technique that included local inversion and a purse-string suture of the fistula using the thyroid lobe as a transfer flap.Clinical data were collected to analyze postoperative outcomes.Results:All eight patients experienced successful pharyngeal fistula repair.Postoperatively,these patients were managed with nasogastric tube feed-ing,liquid diet,and prophylactic antibiotics to prevent infection.After 10 days,their diet was changed to oral liquids,and their nasogastric tubes were removed.All patients were discharged after complete recovery.Conclusions:Use of the thyroid lobe as a transfer flap in a double-layer repair technique involving local inversion of the fistula is an effective method for repairing early pharyngeal fistula after total laryngectomy.This approach offers several advantages,including ease of flap harvesting,shortened operation time,reduced patient discom-fort,high transfer flap survival rate,and rapid postoperative recovery.The clinical efficacy of this technique is well-supported,making it a re-liable option for the management of early pharyngeal leaks.
10.Clinical characteristics and genetic analysis of two children with Multiple mitochondrial dysfunction syndrome due to variants of IBA57 gene
Qiuping WU ; Shan CHEN ; Lijuan LIU ; Xiangshu WEN ; Jingjing LI
Chinese Journal of Medical Genetics 2025;42(1):69-73
Objective:To investigate the clinical features and genetic variants associated with Multiple mitochondrial dysfunction syndrome (MMDS) type 3 in two children.Methods:Two children diagnosed with MMDS type 3 at Zhuhai Maternal and Child Health Care Hospital in January 2021 were selected for this study. A retrospective analysis of their clinical data was carried out. Whole exome sequencing was conducted on the two children and their parents, followed by Sanger sequencing for candidate variants and bioinformatic analysis. Both children received comprehensive rehabilitative therapy and were followed up for 3 years. This study was approved by the Ethics Committee of Zhuhai Maternal and Child Health Hospital (Ethics No. 202380).Results:① The two MMDS type 3 children were monozygotic twin girls, aged 9 months, presenting with developmental regression, pyramidal signs, and other clinical manifestations. Cranial MRI revealed widespread abnormal signals and vacuolar changes in the white matter. ② Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the IBA57 gene, namely c. 286T>C (p.Tyr96His) and c. 307C>T (p.Gln103Ter). Sanger sequencing confirmed that these variants were inherited from their father and mother, respectively. ③ According to the American College of Medical Genetics and Genomics (ACMG) guidelines, both variants were classified as pathogenic (PM2_Supporting + PM3_Very Strong + PP3_Moderate; PVS1 + PM2_Supporting + PM3). ④ After treatment with vitamins, levocarnitine, ATP, coenzyme Q10, and other drugs, both children showed partial recovery of neurodevelopmental regression, with improvement in feeding and sleep. Over the 3-year follow-up, there was slow but progressive improvement in motor, language, and cognitive development. Conclusion:The compound heterozygous variants c. 286T>C (p.Tyr96His) and c. 307C>T (p.Gln103Ter) of the IBA57 gene probably underlay the MMDS type 3 in the twin pair. Clinicians should be vigilant about the possibility of MMDS type 3 in children with neurodevelopmental regression and early cranial MRI findings indicating widespread white matter abnormalities with vacuolar changes, as these may be indicative of IBA57 gene variants.

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