OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

Objective:To investigate the current status of subjective well-being among stroke patients, and to explore the pathways and effects of influencing factors using structural equation model, so as to provide reference for improving subjective well-being among stroke patients.Methods:From July to November 2024, the stroke patients admitted to the First Affiliated Hospital of Bengbu Medical University, the Second Affiliated Hospital of Bengbu Medical University, Hefei First People′s Hospital were selected by convenience sampling method. A cross-sectional survey was conducted using a general demographic questionnaire, General Well-Being Scale, Cognitive Reserve Index questionnaire, Social Support Rating Scale, Stroke Symptom Cluster Scale, and FRAIL Scale, and AMOS 26.0 was used to analyse the pathways and effects of influencing factors of subjective well-being.Results:A total of 435 questionnaires were collected, 410 were valid.Among 410 cases, 266 case were males, 144 were females, with an age of (65.96 ± 12.15) years. The subjective well-being scores of stroke patients were (72.58 ± 11.66) points. Cognitive reserve and social support were positively correlated with subjective well-being ( r = 0.517, 0.554, both P<0.01), while symptom burden and frailty were negatively correlated with subjective well-being ( r = -0.687, -0.670, both P<0.01). Path analysis showed that symptom burden, frailty, cognitive reserve, and social support had a direct impact on subjective well-being (path coefficients were -0.500, -0.266, 0.148, and 0.144, respectively, all P<0.05), while cognitive reserve, social support, and symptom burden had an indirect impact on subjective well-being (path coefficients were 0.287, 0.249, and 0.108, respectively, all P<0.05). Conclusions:The subjective well-being of stroke patients is influenced by multiple factors, with symptom burden being an important factor affecting subjective well-being. Intervention strategies such as improving cognitive reserve, strengthening social support systems, and preventing frailty can improve the subjective well-being of patients.

Objective To investigate the current symptom status of maintenance hemodialysis(MHD)patients,analyze the influencing factors from the perspective of multidimensional symptom burden,extract symptom groups,and construct a symptom network.Methods A total of 490 patients who received MHD at the blood purification center of a tertiary hospital in Shanghai from March to April 2025 were selected using a convenience sampling method.30 symptoms of MHD patients were investigated using a modified dialysis symptom index table.SPSS and R software were utilized to analyze the influencing factors,extract symptom groups,and construct a multidimensional symptom network.Results A total of 488 valid questionnaires were collected,with a valid questionnaire recovery rate of 99.59％.The median number of symptoms experienced by patients was 6(interquartile range:4,8),with the top 5 symptoms being dry skin(69.88％),fatigue or tiredness(56.97％),itching(56.97％),worry(50.20％),and dry mouth(46.31％).Multidimensional analysis indicated that age,duration of dialysis,education level,and complications were influencing factors of symptom burden scores across different dimensions.6 stable symptom groups were extracted,namely skin discomfort,fatigue and pain,gastrointestinal tract,sleep disorders,water-electrolyte imbalance,and uremia.The results of the symptom network analysis revealed that difficulty of falling asleep had the highest intensity centrality(rs=2.18,2.25,2.12).Conclusion The symptom association is relatively stable,and difficulty of falling asleep is the core symptom.This finding can assist clinical medical staff in achieving efficiency and precision in symptom group management.

Objective To assess bacterial contamination in the indoor air and on item surface(hereinafter referred to as surface)within the pediatric outpatient departments of three tertiary hospitals,and provide reference for improving disinfection management and protecting children and medical staff.Methods A high-flow bioaerosol sampler was used to collected and monitored microorganisms from 42 indoor air samples across various surfaces of pediatric outpatient clinics within three tertiary hospitals.Additionally,surface sam-pling was employed to examine frequently touched surfaces by both medical staff and patients,with the objective of identifying bacterial colony-forming units(CFU).Results In the pediatric outpatient clinics,the B Hospital showed a significantly lower count of bacterial colonies in general air samples compared to A Hospital and C Hospital(P＜0.05).Conversely,A Hospital had a significantly lower count of bacterial colonies on frequently touched surfaces by both medical staff and patients than B Hospital and C Hospital(P＜0.05).Airborne CFU exceeded normal levels in all three hospitals.Notably,the waiting hall of A Hospital had a significantly higher concentration of airborne pathogens compared to its consultation and nebulization rooms(P＜0.05).At B Hospital,there was no significant difference in airborne pathogen levels between the consultation room and the waiting hall(P＞0.05).Meanwhile,the waiting hall and infusion room at C Hospital both had significantly higher pathogen levels than the consultation room(P＜0.05).The CFU of pathogens on sur-faces frequently contacted by patients or their family members were significantly higher at B Hospital and C Hospital than those contacted by medical staff(P＜0.05).In contrast,there was no significant difference in pathogen CFU detected on the surface of patients or fami-ly members in hospital A and that of medical staff(P＞0.05).Pathogenic bacteria,including staphylococcus aureus,bacillus cereus,and streptococcus pneumoniae,were detected in the air and on surfaces across all three hospitals,with a notable presence in consultation rooms,waiting halls,and infusion rooms.Conclusion The pediatric outpatient clinics of the three tertiary hospitals exhibit varying levels of microbial contamination,underscoring the need for vigilant and standardized management of routine disinfection practices.

As two types of safe,effective,and environmentally friendly disinfectants,acidic electrolyzed water and hypochlorous acid water have been widely recognized for their advantages such as the effectiveness in disinfection,safety for human body and friendly to environment through years of constant efforts on the research.Acidic elec-trolyzed water and hypochlorous acid water have been used for the disinfection of endoscopes,operating rooms,medical instruments of supply department and hospital environment,which has played an active role in prevention of hospital-associated infection and control of the contamination of environment due to the use of disinfectants.The current status of research on the acidic electrolyzed water and hypochlorous acid water,effect on killing microor-ganisms,influencing factors,impact on environment and objects as well as the application of relevant rules and laws in medical field were reviewed in the article.

Objective:To investigate the pathogenetic characteristics of clinical isolates of Streptococcus suis in Henan Province from 2020 to 2023. Methods:Eight clinical isolates of S. suis in Henan Province from 2020 to 2023 were identified using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) and real-time fluorescence polymerase chain reaction (PCR). Serotype and virulence genes were detected by the serum agglutination test and PCR, and antibiotic susceptibility was evaluated using the microbroth dilution method. Multilocus sequence typing (MLST), minimum core genome (MCG), identification of antibiotic resistance genes, and core genome single nucleotide polymorphism (cgSNP) analysis were conducted using whole genome sequencing. Results:The results showed that eight S. suis strains isolated from humans were mainly serotype 2 (75.0%), while the rest were serotype 14 (25.0%). ST353 (62.5%) was the predominant genotype, followed by ST1 (25.0%) and ST7 (12.5%). All isolates belonged to the MCG1 group. The virulence genotypes of these isolates were primarily mrp(NA2)/ sly+/ ef+/ gapdh+(75.0%), while the remaining were mrp(EU)/ sly+/ ef+/ gapdh+(25.0%). These isolates carried tetracycline, macrolide, lincosamide and aminoglycoside resistance genes, and their resistance rates to tetracycline, erythromycin and clindamycin were 100.0%, 87.5% and 87.5%, respectively, and 62.5% strains were intermediate-resistant to penicillin. The cgSNP analysis indicated that these isolates were closer to the isolates from Guangdong, Zhejiang and Guangxi Provinces, with five ST353 strains and one ST7 strain belonging to Clade Ⅰ, and two ST1 strains belonging to Clade Ⅱ. Conclusion:The human isolates of S. suis in Henan Province are mainly ST353, harboring multiple virulence and antibiotic resistance genes.

Melatonin is widely used as an over-the-counter medication to treat insomnia in children with autism spectrum disorder (ASD) and neurogenetic disorders (NGD). However, there is still a lack of research on its efficacy and safety, and clinical practice standards are to be established. In response, the International Pediatric Sleep Association (IPSA) convened an expert panel and developed a consensus statement:"Melatonin Use in Managing Insomnia in Children with Autism and Other Neurogenetic Disorders-an Assessment by the International Pediatric Sleep Association (IPSA)", which was published in Sleep Medicine, April 2024. The consensus focused on the efficacy and adverse effects of melatonin treatment for insomnia in children with ASD and NGD-including Smith-Magenis syndrome, Rett syndrome, Angelman syndrome, and tuberous sclerosis complex. It systematically reviews randomized controlled trials (RCTs) conducted between 2012 and 2022, and integrates current best clinical practices to formulate 10 consensus recommendations. Despite these contributions, the consensus has limitations: a small number of included RCTs, a lack of grading for evidence quality, and recommendation strength. Furthermore, the study population is primarily composed of children from Western countries. This article seeks to interpret the consensus to improve standardized use of melatonin for insomnia in Chinese children with ASD and NGD, and to provide a reference for the future development of localized evidence-based guidelines.

Objective To assess bacterial contamination in the indoor air and on item surface(hereinafter referred to as surface)within the pediatric outpatient departments of three tertiary hospitals,and provide reference for improving disinfection management and protecting children and medical staff.Methods A high-flow bioaerosol sampler was used to collected and monitored microorganisms from 42 indoor air samples across various surfaces of pediatric outpatient clinics within three tertiary hospitals.Additionally,surface sam-pling was employed to examine frequently touched surfaces by both medical staff and patients,with the objective of identifying bacterial colony-forming units(CFU).Results In the pediatric outpatient clinics,the B Hospital showed a significantly lower count of bacterial colonies in general air samples compared to A Hospital and C Hospital(P＜0.05).Conversely,A Hospital had a significantly lower count of bacterial colonies on frequently touched surfaces by both medical staff and patients than B Hospital and C Hospital(P＜0.05).Airborne CFU exceeded normal levels in all three hospitals.Notably,the waiting hall of A Hospital had a significantly higher concentration of airborne pathogens compared to its consultation and nebulization rooms(P＜0.05).At B Hospital,there was no significant difference in airborne pathogen levels between the consultation room and the waiting hall(P＞0.05).Meanwhile,the waiting hall and infusion room at C Hospital both had significantly higher pathogen levels than the consultation room(P＜0.05).The CFU of pathogens on sur-faces frequently contacted by patients or their family members were significantly higher at B Hospital and C Hospital than those contacted by medical staff(P＜0.05).In contrast,there was no significant difference in pathogen CFU detected on the surface of patients or fami-ly members in hospital A and that of medical staff(P＞0.05).Pathogenic bacteria,including staphylococcus aureus,bacillus cereus,and streptococcus pneumoniae,were detected in the air and on surfaces across all three hospitals,with a notable presence in consultation rooms,waiting halls,and infusion rooms.Conclusion The pediatric outpatient clinics of the three tertiary hospitals exhibit varying levels of microbial contamination,underscoring the need for vigilant and standardized management of routine disinfection practices.

Objective:To investigate the sleep status of conscious patients in the ICU, their perception of ICU environmental stressors, and the correlation between the two, providing a basis for nursing interventions.Methods:A convenience sampling method was used to recruit 120 conscious patients admitted to Zhongshan Hospital, Fudan University for the first time to the ICU from August 2022 to January 2023 for the study. Data were collected using a general information questionnaire, the Intensive Care Unit Environmental Stressor Scale (ICUESS), and the Richards-Campbell Sleep Questionnaire (RCSQ). Multiple linear regression analysis was performed to identify factors influencing sleep quality in conscious ICU patients.Results:The total RCSQ and ICUESS scores of 120 conscious ICU patients were 36.0 (12.3, 60.8) and 76.0 (69.0±84.0), respectively. The primary stressors identified by patients were "inability to fall asleep" "thirst" and "restraint by medical tubing". Multiple linear regression analysis showed that the treatment environment, one's own experience and noise were significant factors affecting sleep quality in conscious ICU patients ( P<0.05) . Conclusions:The overall sleep quality of conscious ICU patients was poor and closely related to their perceived level of ICU environmental stressors. ICU medical staff should focus on optimizing the treatment environment, noise and patients' own experience to improve their sleep quality.

Objective To develop a core outcome set(COS)for clinical effectiveness trials of heart failure with preserved ejection fraction(HFpEF).Methods Outcome measures were collected through database literatures search,clinical experts questionnaire survey and semi-structured patients interview.Then,the outcome measures pool was constructed and domains were divided.Candidate outcome measures of COS were screened through two rounds of Delphi survey.Finally,a consensus meeting was held to determine COS and reach a consensus.Results A total of 317 outcome measures which could be divided into 6 domains were collected through literature research,questionnaire survey and semi-structured interview.15 candidate outcome measures of COS were screened through two rounds of Delphi survey.Finally,the consensus meeting reached consensus on a COS with 6 entries.Conclusion In this study,a COS for clinical effectiveness trials of HFpEF was developed,which is conducive to the standardization of efficacy evaluation.