Objective To investigate the application value of bedside ultrasound monitoring of quadriceps muscle changes in mechanically ventilated children in the early treatment of ICU-acquired muscle weakness (ICU-AW). Methods Eighty-two pediatric ICU patients with mechanical ventilation for>48 hours were selected. On the day of admission (D₀) and on day 7 (D₇), bedside ultrasound was performed to measure the thickness and cross-sectional area of the rectus femoris and vastus intermedius muscles. Patients were classified using Medical Research Council scores into control group (n = 63) and muscle weakness group (n = 19). Muscle parameters and atrophy rates were compared between groups. Diagnostic performance was assessed using receiver operating characteristic curves. Results The incidence of ICU-AW was 23.17%. At both D₀ and D₇, the average thickness of the rectus femoris, the average thickness of the vastus intermedius, the average area of the rectus femoris, and the average area of the vastus intermedius were significantly different between the two groups (P<0.05). The atrophy rates of the thickness of the rectus femoris and the area of the vastus intermedius were lower in the control group than in the muscle weakness group at both D₀ and D₇ (P<0.05). The area under the receiver operating characteristic curve for quadriceps parameters in diagnosing ICU-AW was 0.871, with a sensitivity of 89.47% and a specificity of 79.37%. Conclusion Bedside ultrasound dynamic monitoring of quadriceps changes enables early identification of ICU-AW and provides a basis for clinical intervention.

OBJECTIVE: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review. METHODS: A 5-year-old girl presenting with seizures without an obvious cause was enrolled in September 2020. Genomic DNA was extracted from the patient and her parents. Whole exome sequencing (WES) was performed on the proband to identify suspected pathogenic variants based on her clinical phenotype. Sanger sequencing was used for validation, followed by bioinformatic analysis of the variant. Additionally, data from 54 previously reported Chinese cases with SYNGAP1 variants were integrated to summarize the distribution of variant types and clinical characteristics. Ethical approval was obtained from the Ethics Committee of Kunming Children's Hospital (Ethics No.: 2021-03-055-K01). RESULTS: WES identified a heterozygous nonsense variant, SYNGAP1 c.725G>A (p.Trp242*), in the proband. Sanger sequencing confirmed it was a de novo variant. According to the ACMG guidelines, this variant was classified as pathogenic (PVS1+PS2). Based on the clinical manifestations, the patient was diagnosed with MRD5. Bioinformatic analysis suggested that this variant introduces a premature stop codon at tryptophan 242, disrupting the PH domain and leading to the loss of the C2, Ras-GAP, and C-terminal domains. The pooled analysis of Chinese cases revealed that nonsense (38.2%) and frameshift (36.4%) variants were the predominant types. Intellectual disability/developmental delay was present in 100.0% of patients, epilepsy in 83.6%, and autism spectrum disorder in 41.3%. The incidence of epilepsy differed significantly among variant types (P = 0.045). Exons 8 and 15 were identified as mutation hotspots. CONCLUSION This study has identified a SYNGAP1 c.725G>A variant in the Chinese population and confirmed it as a potential cause of MRD5, which expanded the mutational spectrum of this disorder.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; ras GTPase-Activating Proteins/genetics* ; Phenotype ; Exome Sequencing ; Genetic Association Studies

ObjectiveTo investigate the therapeutic effects of direct-acting antiviral agents (DAAs) combined regimens for hepatitis C virus (HCV) patients in Dehong Prefecture, Yunnan Province from 2022 to 2024, to analyze the characteristics of treatment failure patients, so as to provide a basis for discovering more effective treatment regimens in the future. MethodsData on HCV prevention and treatment in Dehong Prefecture was extracted from the China Disease Control and Prevention Information System. A total of 617 patients with HCV antiviral therapy were included, and the differences in variable characteristics among patients with different genotypes were analyzed using comparative statistical tests, including basic socio-demographic characteristics, biochemical testing indicators, and information on previous treatment and current treatment. In addition, the cure rate of HCV patients with diverse characteristics was compared, and the potential causes of treatment failure were explored simultaneously. ResultsThe cure rate of HCV was 96.8%, and statistically significant differences were observed in aspartate transaminase (AST) and alanine transaminase (ALT) levels, previous antiviral therapy history and initial treatment regimens among patients with different HCV genotypes (all P<0.05). Among the multi-type combination regimens, the cure rate of sofosbuvir (SOF)-containing regimens was 97.00%, that of velpatasvir (VEL)-containing regimens was 95.45%, and the cure rate of other treatment regimens, including the regimens with ribavirin (RIB) intervention, was 93.10%. Among the patients with treatment failure, 45.00% had genotype 3, 40.00% had abnormal abdominal ultrasound results, and all presented with elevated baseline AST test levels. ConclusionThe clinical treatment of HCV patients should consider the differences in genotype and biochemical test results. DAAs combined regimens for HCV have achieved a high cure rate in Dehong Prefecture and are applicable to HCV patients with diverse clinical characteristics, providing research evidence for wider application.

Objective:To investigate the iodine nutritional status of children aged 8-10 years in Jilin Province.Methods:From March 2021 to September 2023, in accordance with the requirements of the "Monitoring Plan for Iodine Deficiency Disorders in Jilin Province", monitoring for iodine deficiency disorders was carried out among children aged 8-10 years in 60 counties (cities, districts) of Jilin Province. Salt samples from children's homes and one random urine sample were collected to test salt iodine and urinary iodine. Thyroid B-ultrasound examination was performed on children to calculate the goiter rate.Results:From 2021 to 2023, a total of 36 028 household salt samples were tested, with a median salt iodine of 23.9 mg/kg and a consumption rate of qualified iodized salt of 96.3% (34 705/36 028). A total of 36 028 children's urine samples were tested, with a median urinary iodine level of 179.3 μg/L. The median urinary iodine levels of children in each year were 180.0, 177.2 and 181.2 μg/L, respectively ( n = 12 014, 12 006, 12 008). The median urinary iodine levels of children aged 8, 9 and 10 years were 182.2, 182.1 and 172.8 μg/L, respectively ( n = 10 238, 16 343, 9 447). The median urinary iodine levels of boys and girls were 182.8 and 176.3 μg/L, respectively ( n = 18 227, 17 801). A total of 12 006 children underwent thyroid examination, 41 children were detected with goiter, with a goiter rate of 0.34%. Conclusion:From 2021 to 2023, the consumption rate of qualified iodized salt ( > 90%), urinary iodine (100-< 200 μg/L) and goiter rate ( < 5%) of children in Jilin Province meet the national iodine deficiency disorders elimination standards.

Objective:To conduct a baseline review of the best evidence for perioperative fraility management in elderly patients, construct review indicators, systematically analyze obstacle factors and promoting factors, and formulate corresponding change strategies, so as to provide reference for clinical transformation of evidence.Methods:With the Joanna Briggs Institute evidence-based health care model as the guiding framework, the best evidence of perioperative frailty-management in elderly patients was summarized, and the review indicators and review methods were formulated on the basis of the evidence. From April 2024 to May 2024, a baseline review of the hospital system of Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, medical staff and patients were conducted to analyze the obstacles in clinical practice and formulate corresponding change strategies, guided by integrated-promoting action on research implementation in health services framework(i-PARIHS).Results:According to 19 best evidence, 20 review indicators were established, among which 10 review indicators compliance rate was less than 60% and higher than 0, 2 review indicators compliance rate was 0. Based on the results of the i-PARIHS evidence-based conceptual framework analysis, the obstacle factors included the evidence content was not specific and inaccessible; lack of knowledge and skills in healthcare; the workload of medical care increased; the patient was old and had weak receptivity, lack of systematic practice process; lack of multidisciplinary communication mechanisms.Conclusions:There is a big gap between the best evidence of perioperative frailties management in elderly patients and clinical practice. Clinical departments need to deeply analyze the obstacles to clinical practice based on the existing clinical environment and resource allocation, and formulate targeted strategies to promote the better integration of evidence into clinical practice.

Objective:To construct a bedside handover management in surgical ward based on the intervention mapping theory and verify the practical effect, to provide a reference for further standardizing handover behavior and improving the efficiency of handover management.Methods:A quasi-experimental research method was adopted. From January 2022 to January 2023, nurses from the Department of Urology of Tongji Medical College Affiliated Union Hospital, Huazhong University of Science and Technology were selected by cluster sampling. From January to June 2022, routine bedside handover management was implemented. In July 2022, a one-month training on the bedside handover management in surgical ward based on the intervention mapping theory was conducted for urology nurses. From August 2022 to January 2023, the bedside handover management in surgical ward based on the intervention mapping theory was implemented. The incidence of handover problems among nurses, the evaluation of handover among nurses, the qualified rate of nurses' disease awareness, and the satisfaction of patients with handover were compared before and after the training.Results:A total of 48 nurses were included. They were the same batch of nurses before and after the training, including 2 males and 46 females, with an age of (32.23 ± 5.50) years. A total of 1 180 inpatients were included before the training, including 921 males and 259 females, with an age of (56.69 ± 17.24) years. After the training, 1 240 inpatients were included, including 946 males and 294 females, with an age of (55.50 ± 18.85) years. The incidence of handover problems among nurses after the training was 3.71% (46/1 240), which was lower than 9.92% (117/1 180) before the training, and the difference was statistically significant ( χ2=37.07, P<0.05). After the training, the total score of handover evaluation for nurses and the qualified rate of nurses' disease awareness were (80.08 ± 3.74) points and 91.67% (44/48) respectively, which were higher than (73.10 ± 3.53) points and 72.92% (35/48) before the training, and the differences were statistically significant ( t=-0.94, χ2=5.79, both P<0.05). The total score of satisfaction with bedside handover of patients after the training was (76.13 ± 4.50) points, which was higher than (67.92 ± 4.64) points before the training, and the difference was statistically significant ( t=-13.99, P<0.05). Conclusions:The bedside handover management plan based on the intervention mapping theory can effectively strengthen the quality of bedside handover, improve the satisfaction with bedside handover of patients, and deepen nursing quality.

Objective:To investigate the sero-conversion rate of HIV antibody and influencing factors in cross-border couples in Dehong Dai and Jingpo Autonomous Prefecture(Dehong).Methods:A cohort design was used to recruit HIV-negative people in cross-border couples in Dehong in 2017. Follow-up was conducted in 2023, and questionnaire survey and HIV test were carried out to calculate the sero-conversion rate of HIV antibody. Univariate and multivariate logistic regression models were used to analyze the influence factors for HIV infections.Results:A total of 36 278 HIV-negative persons in cross-border couples were included in the 2017 baseline survey, of whom 22 438 (61.9%) were tested in follow-up in 2023. The sero-conversion rate between 2017 and 2023 was 0.51% (115/22 438). Multivariate logistic regression analysis showed that length of marriage <6 years, Jingpo ethnic group, education level of primary school or below, drug use, illegal marriage and HIV infected spouse were the risk factors of HIV infection in male spouses, and length of marriage <6 years, Jingpo ethnic group, illegal marriage and HIV infected spouse were the risk factors in female spouses.Conclusions:The sero-conversion rate of HIV antibody in cross-border couples in Dehong was relatively high. HIV infection was mainly caused by secondary transmission in the couples, and men might also be infected through drug use. It is necessary to strengthen the registration and management of cross-border couples, especially the couples with discordant HIV infection status, and the intervention in drug users to reduce the risk for secondary transmission of HIV in the cross-border couples.

Objective:To report the surveillance results of the distribution and antimicrobial resistance profile of clinical isolates in Anhui province.Methods:Surveillance data from 94 members of the Anhui Antimicrobial Resistance Surveillance Network（HuiNet）from October 2023 to September 2024 were collected，the major drug-resistant bacteria and the resistance to commonly used antibiotics were analyzed. WHONET 5.6 and SPSS 25.0 software were used for data analysis.Results:Among 240 339 clinical strains，Gram-negative bacteria accounted for 75.0%（180 153 strains）. The detected bacteria mainly include Escherichia coli（ n=53 587，22.3%）， Klebsiella pneumoniae（ n=39 774，16.5%）， Pseudomonas aeruginosa（ n=25 505，10.6%）， Staphylococus aureus（ n=19 438，8.1%）， Acinetobacter baumannii complex（ n=14 239，5.9%），and so on. The prevalence of methicillin-resistant Staphylococcus aureus（MRSA）and methicillin-resistant coagulase-negative Staphylococcus aureus（MRCNS）were 37.7%（7 112/18 853）and 73.9%（13 221/17 895），respectively. No vancomycin- and teicolanin-resistant Staphylococcus were detected. The prevalence of carbapenem-resistant Escherichia coli（CREC）and Klebsiella pneumoniae（CRKP）were 1.9%（971/51 991）and 12.3%（4 864/39 414），respectively. The resistance rate of CRKP to tigecycline and polycolistin B was 7.7% and 7.9%，respectively. The prevalence of carbapenem-resistant Acinetobacter baumannii（CRAB）complex and Pseudomonas aeruginosa（CRPA）were 57.9%（8 222/14 198）and 18.2%（4 569/25 052），respectively，with low resistance to polycolistin B（2.0% and 7.2%，respectively）. The detection rates of MRSA，MRCNS，CRAB complex，third-generation cephalosporin-resistant Escherichia coli（3GC-R-EC）and quinolone-resistant Escherichia coli（QREC）in northern Anhui were the highest（46.8%，77.1%，65.6%，57.6% and 55.5%，respectively），which were higher than those in central and southern Anhui（ χ2=107.858 and 566.202，5.950 and 142.223，39.254 and 289.137，135.402 and 449.114，39.142 and 185.114， P<0.05 or <0.01），and the detection rates in central Anhui were higher than those in southern Anhui（ χ2=272.031，102.717，162.409，118.891 and 66.889，all P<0.001）. The detection rates of CRKP，CRPA and thirdgeneration cephalosporinresistant Klebsiella pneumoniae（3GC-R-KP）in central Anhui were the highest（16.7%，21.7% and 32.0%，respectively），which were higher than those in northern and southern Anhui（ χ2=229.656 and 439.377，156.599 and 65.818，77.386 and 232.568，all P<0.001）. The detection rates of CREC，3GC-R-EC and QREC were the highest in the elderly（2.2%，54.0% and 56.4%，respectively），which were higher than those in children and adults（ χ2=8.034 and 13.150，17.032 and 103.437，438.353 and 183.099，all P<0.01）. The detection rates of CRKP and 3GC-R-KP in neonates were the highest（20.6% and 56.9%，respectively），which were significantly higher than those in children，adults and the elderly（ χ2=38.869，8.337 and 7.921；65.517，55.525 and 49.214，all P<0.01），and the detection rate of 3GC-R-KP in the elderly was higher than that in children and adults（ χ2=14.122 and 7.501，both P<0.01）. The detection rates of CRAB complex，CRPA，CREC，CRKP and 3GC-R-KP in tertiary hospitals were higher than those in secondary hospitals（ χ2=25.606，16.501，5.820，33.116 and 117.086， P<0.05 or <0.01）. Except for MRSA，vancomycin-resistant Enterococcus faecium and QREC，the detection rates of major drug-resistant bacteria in intensive care unit（ICU）were the highest（all P<0.001）. From 2019 to 2024，the detection rates of MRSA，MRCNS，CRKP，CRAB complex and CRPA all showed a slow decreasing trend（ χ2=42.319，122.779，340.381，83.512 and 81.668，all P<0.001）. Conclusions:The situation of antimicrobial resistance in Anhui province shows a downward trend，but it is still serious，especially in northern and central Anhui. It is necessary to pay attention to the bacterial resistance particularly for the elderly，newborns，children and ICU.

Objective:To investigate the sero-conversion rate of HIV antibody and influencing factors in cross-border couples in Dehong Dai and Jingpo Autonomous Prefecture(Dehong).Methods:A cohort design was used to recruit HIV-negative people in cross-border couples in Dehong in 2017. Follow-up was conducted in 2023, and questionnaire survey and HIV test were carried out to calculate the sero-conversion rate of HIV antibody. Univariate and multivariate logistic regression models were used to analyze the influence factors for HIV infections.Results:A total of 36 278 HIV-negative persons in cross-border couples were included in the 2017 baseline survey, of whom 22 438 (61.9%) were tested in follow-up in 2023. The sero-conversion rate between 2017 and 2023 was 0.51% (115/22 438). Multivariate logistic regression analysis showed that length of marriage <6 years, Jingpo ethnic group, education level of primary school or below, drug use, illegal marriage and HIV infected spouse were the risk factors of HIV infection in male spouses, and length of marriage <6 years, Jingpo ethnic group, illegal marriage and HIV infected spouse were the risk factors in female spouses.Conclusions:The sero-conversion rate of HIV antibody in cross-border couples in Dehong was relatively high. HIV infection was mainly caused by secondary transmission in the couples, and men might also be infected through drug use. It is necessary to strengthen the registration and management of cross-border couples, especially the couples with discordant HIV infection status, and the intervention in drug users to reduce the risk for secondary transmission of HIV in the cross-border couples.

Objective:To construct an evaluation indicator system for power system of otolaryngology surgery,so as to provide references for the configuration of surgical power devices of medical institutions.Methods:Literature review and brainstorming were used to analyze existing literature related to surgical power.Combined with expert opinions and clinical demands,an evaluation indicator system was initially proposed.The Delphi method was adopted to determine the evaluation indicators of power system of otolaryngology surgery.The analytic hierarchy process(AHP)method was used to determine the evaluation indicator system of the power system of otolaryngology surgery,which were constructed by weight of each indicator.Results:The evaluation indicator system of power system of otolaryngology surgery included 5 first-level indicators(integrity of medical equipment,products'performance indicators,safety,clinical application effect,and after-sales service guarantee)and 49 second-level indicators under the first-level indicators.In the first-level indicators,equipment's safety had the highest weight(20.48%).In the second-level indicators,the top three of the combined weights were respectively integrity of equipment's main device(7.19%),accessory's integrity(7.03%),and identification's integrity(6.03%).Conclusion:The evaluation index system for otolaryngological surgical power systems clarifies the core dimensions,specific indicators and relative importance of the evaluation,and can be applied to the procurement and selection of surgical power devices in medical institutions,performance testing,clinical effect evaluation and other aspects.