1.Current status of water management for terminal rinsing of digestive endoscope in 104 medical institutions in Fujian Province
Lijun QIU ; Xianbin GUO ; Yanyi GUO ; Xuan LIN ; Yanqing ZHANG ; Yufang CHEN ; Qiaomei WANG ; Yudai CHEN
Chinese Journal of Nosocomiology 2025;35(20):3162-3167
OBJECTIVE To investigate the current status of water management for terminal rinsing of digestive en-doscope in medical institutions in Fujian Province,and to provide reference for improving regional quality control standards.METHODS An electronic questionnaire survey was conducted from Jul.2024 to Aug.2024 through convenient sampling in secondary and above hospitals of 9 prefecture-level cities in Fujian Province.The survey covered topics such as water treatment system configuration,maintenance and water quality monitoring.RESULTS A total of 108 questionnaires were distributed and 104 valid questionnaires were collected,with an effec-tive response rate of 96.30%.The survey revealed that 78.85%(82/104)of the hospitals adopted separate water supply for each department,and 82.69%used purified water for terminal rinsing.Only 19.23%installed the final filter membrane at the water outlet.In addition,66.35%of the hospitals did not specify the service life of the wa-ter supply pipeline,and the pipeline disinfection implementation rate was 60.58%,but 31.75%of them had ir-regular disinfection frequencies,with chlorine-based disinfectants(50.79%)and peracetic acid(34.92%)being the main disinfectants.The regular conductivity monitoring rate was 47.12%,and the microbial monitoring cov-erage rate reached 90.38%,with the monitoring frequency mainly being once every quarter(60.64%),but only 20.21%used R2A medium,and 12.77%adopted the membrane filtration method for inoculation.Tertiary hospi-tals were superior to secondary hospitals in terms of film membrane pore size pass rate(87.50%vs.56.86%),pipeline disinfection implementation rate(71.43%vs.50.91%)and advanced detection method application(P<0.05).CONCLUSIONS There are issues in the management of water used for terminal rinsing of digestive endo-scopes in Fujian Province,including non-standard equipment maintenance,inconsistent monitoring methods and insufficient awareness among management personnel.It is recommended to enhance management quality by optimizing the water treatment system setup,establishing standardized monitoring procedures and strengthening professional training for personnel.
2.Expert consensus on intraoperative repositioning for patients with spine fracture and dislocation (version 2025)
Dongmei BIAN ; Ke SUN ; Ningbo CHEN ; Caixia BAI ; Miao WANG ; Yafeng QIAO ; Fei WANG ; Hong WANG ; Feng TIAN ; Mei YAN ; Meng BAI ; Linjuan ZHANG ; Liyan ZHAO ; Yaqing CUI ; Xue JIANG ; Leling FENG ; Ning NING ; Junqin DING ; Lan WEI ; Yonghua ZHAI ; Yu ZENG ; Zengmei ZHANG ; Jiqun HE ; Fenggui BIE ; Hong CHEN ; Zengyan WANG ; Li LI ; Li ZHANG ; Yaying ZHOU ; Bing SHAO ; Ying WANG ; Caixia XIE ; Yanfeng YAO ; Jingjing AN ; Wen SHI ; Xiongtao LIU ; Xiaoyan AN ; Ning NAN ; Lan LI ; Xiaohui GOU ; Qiaomei LI ; Xiuting WU ; Yuqin ZHANG ; Jing LIU ; Fusen XIANG ; Xu XU ; Na MEI ; Jiao ZHOU ; Shan FAN ; Qian WANG ; Shuixia LI
Chinese Journal of Trauma 2025;41(2):138-147
Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.
3.A randomized controlled trial of electronic balance assistant combined with pharmacotherapy for vestibular rehabilitation in patients with acute peripheral vestibular injury
Shanshan LI ; Chao WEN ; Qiaomei DENG ; Qiang LIU ; Xueqing ZHANG ; Wei WANG ; Kaixu XU ; Taisheng CHEN ; Peng LIN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2025;60(10):1308-1315
Objective:To evaluate the effect of an electronic balance aid in balance rehabilitation training for patients with acute peripheral vestibular injury by comparing the outcomes of medication-only treatment and medication combined with vestibular rehabilitation using an electronic balance aid.Methods:This was a randomized controlled trial. The study subjects included 98 patients (40 males and 58 females, aged 25-69 years) diagnosed with idiopathic sudden sensorineural hearing loss (ISSNHL) with vertigo or vestibular neuritis, who were treated in the Department of Otorhinolaryngology-Head and Neck Surgery of Tianjin First Central Hospital from November 2022 to November 2023. All patients were randomly divided into the experimental group and the control group at a 1∶1 ratio using the sealed envelope method. Control group (conventional drug treatment): Patients received medication treatment for 2 weeks, including betahistine mesilate tablets, vitamin B1 tablets, methylcobalamin tablets, ginkgo biloba tablets, diphenhydramine hydrochloride injection (within 3 days of onset), metoclopramide hydrochloride injection, and glucocorticoids. Experimental group (conventional drug treatment+device training): On the basis of the same medication treatment as the control group, patients received vestibular rehabilitation training using an electronic balance aid (20 minutes per session, once a day,≥5 days per week, for a total of 2 weeks). SPSS software was used to compare the total scores of the Dizziness Handicap Inventory (DHI), the total scores of the Sensory Organization Test (SOT), and sensory analysis indicators between the two groups before and after treatment.Results:After treatment, vertigo symptoms significantly improved in both groups. DHI: The total DHI score in the control group decreased from 77.9±1.8 before treatment to 20.2±2.3 after treatment ( P<0.001). In the experimental group, the total DHI score decreased from 73.5±2.1 before treatment to 8.6±0.9 after treatment ( P<0.001). The difference in total DHI scores between the two groups after treatment was statistically significant, with the experimental group showing a lower score ( t=-4.616, P<0.001). The improvement in DHI scores was also more pronounced in the experimental group compared to the control group ( t=2.004, P=0.048). SOT: The total SOT score in the control group increased from 52.90±0.95 before treatment to 73.3±1.1 after treatment ( P<0.001). In the experimental group, the total SOT score increased from 54.9±0.8 before treatment to 83.5±0.9 after treatment ( P<0.001). The difference in total SOT scores between the two groups after treatment was statistically significant, with the experimental group showing a higher score ( t=7.104, P<0.001). The improvement in SOT scores was also more pronounced in the experimental group compared to the control group ( t=6.532, P<0.001). Sensory Analysis Indicators Proprioception (SOM): In the experimental group, the proprioception score significantly increased after treatment compared with before treatment ( t=-2.338, P=0.029), while, there was no statistically significant difference in the proprioception score of the control group before and after treatment ( P=0.537). Before treatment, there were no statistically significant differences in visual, vestibular, or visual dependence scores between the two groups (all P>0.05). After treatment, the visual, vestibular, and visual dependence scores of both groups significantly increased compared with those before treatment (all P<0.05); moreover, the post-treatment visual, vestibular, and visual dependence scores of the experimental group were significantly higher than those of the control group (all P<0.05). Conclusion:Compared with medication-only treatment, the combination of an electronic balance aid and medication for the treatment and rehabilitation training of patients with acute peripheral vestibular injury can significantly improve the therapeutic effect in the short term.
4.Current status of water management for terminal rinsing of digestive endoscope in 104 medical institutions in Fujian Province
Lijun QIU ; Xianbin GUO ; Yanyi GUO ; Xuan LIN ; Yanqing ZHANG ; Yufang CHEN ; Qiaomei WANG ; Yudai CHEN
Chinese Journal of Nosocomiology 2025;35(20):3162-3167
OBJECTIVE To investigate the current status of water management for terminal rinsing of digestive en-doscope in medical institutions in Fujian Province,and to provide reference for improving regional quality control standards.METHODS An electronic questionnaire survey was conducted from Jul.2024 to Aug.2024 through convenient sampling in secondary and above hospitals of 9 prefecture-level cities in Fujian Province.The survey covered topics such as water treatment system configuration,maintenance and water quality monitoring.RESULTS A total of 108 questionnaires were distributed and 104 valid questionnaires were collected,with an effec-tive response rate of 96.30%.The survey revealed that 78.85%(82/104)of the hospitals adopted separate water supply for each department,and 82.69%used purified water for terminal rinsing.Only 19.23%installed the final filter membrane at the water outlet.In addition,66.35%of the hospitals did not specify the service life of the wa-ter supply pipeline,and the pipeline disinfection implementation rate was 60.58%,but 31.75%of them had ir-regular disinfection frequencies,with chlorine-based disinfectants(50.79%)and peracetic acid(34.92%)being the main disinfectants.The regular conductivity monitoring rate was 47.12%,and the microbial monitoring cov-erage rate reached 90.38%,with the monitoring frequency mainly being once every quarter(60.64%),but only 20.21%used R2A medium,and 12.77%adopted the membrane filtration method for inoculation.Tertiary hospi-tals were superior to secondary hospitals in terms of film membrane pore size pass rate(87.50%vs.56.86%),pipeline disinfection implementation rate(71.43%vs.50.91%)and advanced detection method application(P<0.05).CONCLUSIONS There are issues in the management of water used for terminal rinsing of digestive endo-scopes in Fujian Province,including non-standard equipment maintenance,inconsistent monitoring methods and insufficient awareness among management personnel.It is recommended to enhance management quality by optimizing the water treatment system setup,establishing standardized monitoring procedures and strengthening professional training for personnel.
5.A randomized controlled trial of electronic balance assistant combined with pharmacotherapy for vestibular rehabilitation in patients with acute peripheral vestibular injury
Shanshan LI ; Chao WEN ; Qiaomei DENG ; Qiang LIU ; Xueqing ZHANG ; Wei WANG ; Kaixu XU ; Taisheng CHEN ; Peng LIN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2025;60(10):1308-1315
Objective:To evaluate the effect of an electronic balance aid in balance rehabilitation training for patients with acute peripheral vestibular injury by comparing the outcomes of medication-only treatment and medication combined with vestibular rehabilitation using an electronic balance aid.Methods:This was a randomized controlled trial. The study subjects included 98 patients (40 males and 58 females, aged 25-69 years) diagnosed with idiopathic sudden sensorineural hearing loss (ISSNHL) with vertigo or vestibular neuritis, who were treated in the Department of Otorhinolaryngology-Head and Neck Surgery of Tianjin First Central Hospital from November 2022 to November 2023. All patients were randomly divided into the experimental group and the control group at a 1∶1 ratio using the sealed envelope method. Control group (conventional drug treatment): Patients received medication treatment for 2 weeks, including betahistine mesilate tablets, vitamin B1 tablets, methylcobalamin tablets, ginkgo biloba tablets, diphenhydramine hydrochloride injection (within 3 days of onset), metoclopramide hydrochloride injection, and glucocorticoids. Experimental group (conventional drug treatment+device training): On the basis of the same medication treatment as the control group, patients received vestibular rehabilitation training using an electronic balance aid (20 minutes per session, once a day,≥5 days per week, for a total of 2 weeks). SPSS software was used to compare the total scores of the Dizziness Handicap Inventory (DHI), the total scores of the Sensory Organization Test (SOT), and sensory analysis indicators between the two groups before and after treatment.Results:After treatment, vertigo symptoms significantly improved in both groups. DHI: The total DHI score in the control group decreased from 77.9±1.8 before treatment to 20.2±2.3 after treatment ( P<0.001). In the experimental group, the total DHI score decreased from 73.5±2.1 before treatment to 8.6±0.9 after treatment ( P<0.001). The difference in total DHI scores between the two groups after treatment was statistically significant, with the experimental group showing a lower score ( t=-4.616, P<0.001). The improvement in DHI scores was also more pronounced in the experimental group compared to the control group ( t=2.004, P=0.048). SOT: The total SOT score in the control group increased from 52.90±0.95 before treatment to 73.3±1.1 after treatment ( P<0.001). In the experimental group, the total SOT score increased from 54.9±0.8 before treatment to 83.5±0.9 after treatment ( P<0.001). The difference in total SOT scores between the two groups after treatment was statistically significant, with the experimental group showing a higher score ( t=7.104, P<0.001). The improvement in SOT scores was also more pronounced in the experimental group compared to the control group ( t=6.532, P<0.001). Sensory Analysis Indicators Proprioception (SOM): In the experimental group, the proprioception score significantly increased after treatment compared with before treatment ( t=-2.338, P=0.029), while, there was no statistically significant difference in the proprioception score of the control group before and after treatment ( P=0.537). Before treatment, there were no statistically significant differences in visual, vestibular, or visual dependence scores between the two groups (all P>0.05). After treatment, the visual, vestibular, and visual dependence scores of both groups significantly increased compared with those before treatment (all P<0.05); moreover, the post-treatment visual, vestibular, and visual dependence scores of the experimental group were significantly higher than those of the control group (all P<0.05). Conclusion:Compared with medication-only treatment, the combination of an electronic balance aid and medication for the treatment and rehabilitation training of patients with acute peripheral vestibular injury can significantly improve the therapeutic effect in the short term.
6.Expert consensus on intraoperative repositioning for patients with spine fracture and dislocation (version 2025)
Dongmei BIAN ; Ke SUN ; Ningbo CHEN ; Caixia BAI ; Miao WANG ; Yafeng QIAO ; Fei WANG ; Hong WANG ; Feng TIAN ; Mei YAN ; Meng BAI ; Linjuan ZHANG ; Liyan ZHAO ; Yaqing CUI ; Xue JIANG ; Leling FENG ; Ning NING ; Junqin DING ; Lan WEI ; Yonghua ZHAI ; Yu ZENG ; Zengmei ZHANG ; Jiqun HE ; Fenggui BIE ; Hong CHEN ; Zengyan WANG ; Li LI ; Li ZHANG ; Yaying ZHOU ; Bing SHAO ; Ying WANG ; Caixia XIE ; Yanfeng YAO ; Jingjing AN ; Wen SHI ; Xiongtao LIU ; Xiaoyan AN ; Ning NAN ; Lan LI ; Xiaohui GOU ; Qiaomei LI ; Xiuting WU ; Yuqin ZHANG ; Jing LIU ; Fusen XIANG ; Xu XU ; Na MEI ; Jiao ZHOU ; Shan FAN ; Qian WANG ; Shuixia LI
Chinese Journal of Trauma 2025;41(2):138-147
Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.
7.Risk factors for postoperative delirium after Stanford type A aortic dissection : A systematic review and meta-analysis
Pu WANG ; Qiaomei WU ; Shichang GUO ; Mingxin WANG ; Meiying CHEN ; Nan MU ; Wenting TAN
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2024;31(05):791-799
Objective To systematically evaluate the risk factors for postoperative delirium after surgery for Stanford type A aortic dissection. Methods We searched the CNKI, SinoMed, Wanfang data, VIP, PubMed, Web of Science, EMbase, The Cochrane Library database from inception to September 2022. Case-control studies, and cohort studies on risk factors for postoperative delirium after surgery for Stanford type A aortic dissection were collected to identify studies about the risk factors for postoperative delirium after surgery for Stanford type A aortic dissection. Quality of the included studies was evaluated by the Newcastle-Ottawa scale (NOS). The meta-analysis was performed by RevMan 5.3 software and Stata 15.0 software. Results A total of 21 studies were included involving 3385 patients. The NOS score was 7-8 points. The results of meta-analysis showed that age (MD=2.58, 95%CI 1.44 to 3.72, P<0.000 01), male (OR=1.33, 95%CI 1.12 to 1.59, P=0.001), drinking history (OR=1.45, 95%CI 1.04 to 2.04, P=0.03), diabetes history (OR=1.44, 95%CI 1.12 to 1.85, P=0.005), preoperative leukocytes (MD=1.17, 95%CI 0.57 to 1.77), P=0.000 1), operation time (MD=21.82, 95%CI 5.84 to 37.80, P=0.007), deep hypothermic circulatory arrest (DHCA) time (MD=3.02, 95%CI 1.04 to 5.01, P=0.003), aortic occlusion time (MD=8.94, 95%CI 2.91 to 14.97, P=0.004), cardiopulmonary bypass time (MD=13.92, 95%CI 5.92 to 21.91, P=0.0006), ICU stay (MD=2.77, 95%CI 1.55 to 3.99, P<0.000 01), hospital stay (MD=3.46, 95%CI 2.03 to 4.89, P<0.0001), APACHEⅡ score (MD=2.76, 95%CI 1.59 to 3.93, P<0.000 01), ventilation support time (MD=6.10, 95%CI 3.48 to 8.72, P<0.000 01), hypoxemia (OR=2.32, 95%CI 1.40 to 3.82, P=0.001), the minimum postoperative oxygenation index (MD=−79.52, 95%CI −125.80 to −33.24, P=0.000 8), blood oxygen saturation (MD=−3.50, 95%CI −4.49 to −2.51, P<0.000 01), postoperative hemoglobin (MD=−6.35, 95%CI −9.21 to −3.50, P<0.000 1), postoperative blood lactate (MD=0.45, 95%CI 0.15 to 0.75, P=0.004), postoperative electrolyte abnormalities (OR=5.94, 95%CI 3.50 to 10.09, P<0.000 01), acute kidney injury (OR=1.92, 95%CI 1.34 to 2.75, P=0.000 4) and postoperative body temperature (MD=0.79, 95%CI 0.69 to 0.88, P<0.000 01) were associated with postoperative delirium after surgery for Stanford type A aortic dissection. Conclusion The current evidence shows that age, male, drinking history, diabetes history, operation time, DHCA time, aortic occlusion time, cardiopulmonary bypass time, ICU stay, hospital stay, APACHEⅡ score, ventilation support time, hypoxemia and postoperative body temperature are risk factors for the postoperative delirium after surgery for Stanford type A aortic dissection. Oxygenation index, oxygen saturation, and hemoglobin number are protective factors for delirium after Stanford type A aortic dissection.
8.Effect and differentiation of spontaneous nystagmus of acute unilateral vestibulopathy on saccade in the video head impulse test.
Qiaomei DENG ; Xueqing ZHANG ; Chao WEN ; Xiaobang HUANG ; Taisheng CHEN ; Wei WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2024;38(12):1122-1133
Objective:Exploring the performance characteristics of spontaneous nystagmus(SN) in video-head impulse test(vHIT) and its possible effects on saccade. Methods:Vestibular function tests such as vHIT and SN were conducted in 48 patients with acute unilateral vestibulopathy(AUVP). The saccade characteristics of vHIT in patients without SN and those with SN were analyzed, as well as the expression characteristics of SN in vHIT. Results:Among the 48 AUVP patients, there were 34 cases with SN, including 31 cases with saccade on the healthy side, 11 cases with both the same and opposite directions of eye movement, 19 with the opposite only, 1 with same direction only, and 3 cases without saccade. There were 14 patients without SN, of whom 10 showed saccade on the healthy side, including 4 with both eye movements in the same and opposite direction, 2 in the opposite direction only, 4 in the same direction only, and 4 without saccade. There is a correlation between reverse saccade on the healthy side and the presence of SN in patients. SN in vHIT can appear opposite to the direction of eye movement on the healthy side, while on the affected side it can appear the same as the direction of eye movement and may cause more discrete overt saccade. 32 patients in the acute phase(≤2 w), 29 patients with SN, SN intensity of(6.7 ± 3.2) °/s, and 3 patients without SN. 16 cases in non acute phase(>2 w), 5 cases with SN, SN intensity of(3.7 ± 2.1) °/s, and 11 cases without SN. In the acute phase there were 30 cases of saccade on the healthy side, 10 cases with both the same and opposite direction of eye movement, 18 cases with only the opposite direction, 2 cases with only the same direction and 2 cases without saccade. There is a correlation between the duration of the disease and the occurrence of reverse saccade on the healthy side. The intensity cut off point of SN for reverse saccade is 2.1 °/s in the healthy lateral semicircular canal vHIT. Conclusion:Compensatory saccades and SN waves with similar waveforms are mostly present in vHIT in AUVP patients. SN wave is in the opposite direction of the normal side and eye movement wave, and the affected side and dominant saccade direction are in the same direction and mixed together, which can affect the dispersion and amplitude of overt saccade in vHIT. Accurate identification of SN in vHIT of AUVP patients is not only the key factor to identify compensatory saccade, but also can provide help for the diagnosis and compensatory assessment of AUVP.
Humans
;
Head Impulse Test/methods*
;
Nystagmus, Pathologic/physiopathology*
;
Saccades/physiology*
;
Male
;
Female
;
Vestibular Diseases/physiopathology*
;
Middle Aged
;
Adult
;
Eye Movements/physiology*
;
Aged
9.Impact of Body Mass Index on Perioperative and Long-term Prognosis of Transcatheter Aortic Valve Replacement in Patients With Severe Aortic Stenosis
Jingxuan HONG ; Qiaomei YANG ; Mingcheng FANG ; Mingwei FU ; Qingyong YANG ; Xinjing CHEN ; Yansong GUO
Chinese Circulation Journal 2024;39(9):877-882
Objectives:To investigate the effect of body mass index(BMI)on perioperative and long-term prognosis of patients with severe aortic stenosis(AS)after transcatheter aortic valve replacement(TAVR). Methods:This retrospective study imcluded 180 patients with severe AS who received TAVR in Fujian Provincial Hospital from January 2019 to January 2022.According to the BMI,patients were divided into four groups:low weight group(BMI<18.5 kg/m2,n=23),normal weight group(18.5 kg/m2≤BMI<24.0 kg/m2,n=65),overweight group(24.0 kg/m2≤BMI<28.0 kg/m2,n=57),obesity group(BMI≥28.0 kg/m2,n=35).The general clinical characteristics,imaging parameters,perioperative indexes,all-cause death and the incidence of other adverse cardiac events during(18.0±6.8)months follow-up were compared among different groups.Risk factors for the perioperative complications and long-term outcomes of TAVR were evaluated. Results:The prevalence of hypertension and diabetes,left ventricular end-diastolic diameter,ventricular septal thickness and left ventricular posterior wall thickness were significantly higher in the obese group than in normal weight group(all P<0.05).The level of prealbumin in low weight group was lower than in normal weight group(P<0.05).The total perioperative complications in low weight group were higher than in normal weight group(60.9%vs.12.3%,P=0.042).During(18.0±6.8)months follow-up,the incidence of all-cause death in the low weight group was significantly higher than that in normal weight group,overweight group and obese group(17.4%vs.4.6%vs.3.5%vs.5.7%,P=0.003).Kaplan-Meier survival analysis evidenced higher mortality rate in low weight group at 18 months after TAVR(log-rank P<0.01).Multivariate Cox regression analysis showed that the risk of long-term adverse cardiovascular events was significantly higher in low weight group than in normal weight group(HR=7.633,95%CI:1.012-57.564,P=0.049). Conclusions:Low weight patients with severe AS have a higher incidence of perioperative complications and a poor long-term prognosis.Such patients should appropriately strengthen their nutritional intake and adjust their body weight to normal levels before performing TAVR.
10.Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene.
Zebing WANG ; Qiaomei CHEN ; You WANG ; Ling LIU ; Chengyan LI
Chinese Journal of Medical Genetics 2023;40(6):668-673
OBJECTIVE:
To explore the clinical characteristics and genetic etiology of three children with Menkes disease.
METHODS:
Three children who had presented at the Children's Medical Center, the Affiliated Hospital of Guangdong Medical University from January 2020 to July 2022 were selected as the study subjects. Clinical data of the children were reviewed. Genomic DNA was extracted from peripheral blood samples of the children, their parents and sister of child 1. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq), and bioinformatic analysis.
RESULTS:
Child 1 was a 1-year-and-4-month male, and children 2 and 3 were monozygotic twin males aged 1-year-and-10-month. The clinical manifestations of the three children have included developmental delay and seizures. WES showed that child 1 has harbored a c.3294+1G>A variant of the ATP7A gene. Sanger sequencing confirmed that his parents and sister did not carry the same variant, suggesting that it was de novo. Children 2 and 3 had carried a c.77266650_77267178del copy number variation. CNV-seq results showed that their mother has carried the same variant. By searching the HGMD, OMIM and ClinVar databases, the c.3294+1G>A was known to be pathogenic. No carrier frequency has been recorded in the 1000 Genomes, ESP, ExAC and gnomAD databases. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the ATP7A gene c.3294+1G>A variant was predicted to be pathogenic. The c.77266650_77267178del variant has involved exons 8 to 9 of the ATP7A gene. ClinGen online system score for it was 1.8, which was also considered to be pathogenic.
CONCLUSION
The c.3294+1G>A and c.77266650_ 77267178del variants of the ATP7A gene probably underlay the Menkes disease in the three children. Above finding has enriched the mutational spectrum of Menkes disease and provided a basis for clinical diagnosis and genetic counseling.
Humans
;
Male
;
Computational Biology
;
Copper-Transporting ATPases/genetics*
;
DNA Copy Number Variations
;
Exons
;
Menkes Kinky Hair Syndrome/genetics*
;
Mutation
;
Peptide Fragments
;
Seizures
;
Infant

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