Objective Under the background of"breaking the Five-Only"and the evaluation reform of healthcare professionals'titles,it analyzed the willingness of healthcare professionals in public hospitals to disseminate health knowledge and its incentives and constraints.Furthermore,it explored potential pathways to improve the willingness of healthcare professionals to popular science and disseminate health knowledge.Methods From November to Decem-ber 2022,a self-designed online questionnaire was used to survey healthcare professionals in four tertiary hospitals in Shanghai.The questionnaire included basic information of healthcare professionals,analysis of the current situa-tion and demands of healthcare professionals in health knowledge dissemination,willingness of healthcare profes-sionals to disseminate health knowledge and influencing factors.Results A total of 762 healthcare professionals partici-pated in this survey,79.9%(608/762)expressed willingness to promote the dissemination of health knowledge.A multiple-factor logistic regression analysis revealed that intermediate professional title,achieving personal value and so-cial responsibility,increasing patient resources,professional title promotion,science promotion-related awards,being included in performance appraisals,and difficulty in capturing science promotion skills were the influential factors affecting the dissemination of health knowledge among healthcare professionals(P＜0.05).Conclusion The willing-ness of healthcare professionals to disseminate health knowledge was strong,and hospitals should motivate health-care professionals to disseminate health knowledge through building a long-term incentive mechanism,strengthening training in science popularization ability,and improving humanistic qualities.

Objective:To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+ ).Methods:Three GEFS+ probands and their pedigree members presented at the Children′s Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants.Results:Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c. 1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c. 2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c. 1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+ PM2_Supporting+ PP1+ PP3+ PP4). Conclusion:The c. 1613T>C, c. 2804A>G and c. 1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.

Objective:To build a training and promotion model for traditional Chinese medicine nursing tourism project in Zhejiang Province, promoting homogeneous management and standardized promotion of traditional Chinese medicine nursing tourism project.Methods:From July 2022 to June 2023, purposive sampling was used to select 20 experts from ClassⅢ traditional Chinese medicine hospitals in Zhejiang Province for Delphi expert consultation. Two rounds of consultation were conducted via email to construct a training and promotion model for traditional Chinese medicine nursing tourism project in Zhejiang Province.Results:In the two rounds of expert consultation, the effective response rate of the questionnaire was 100% (20/20), the familiarity coefficient of the experts was 0.89, the judgment coefficient was 0.94, and the authority coefficient of the experts was 0.92. The Kendall harmony coefficients for two rounds of consultation were 0.268 and 0.105, respectively, with statistically significant differences ( P<0.001). The training and promotion model for traditional Chinese medicine nursing tourism project in Zhejiang Province included six first-level indicators, 22 second-level indicators, 74 third-level indicators, and 28 fourth-level indicators. Conclusions:The construction process of the training and promotion model for traditional Chinese medicine nursing tourism project in Zhejiang Province is rigorous and standardized, providing reference for training and helping to promote innovation and sustainable development of traditional Chinese medicine nursing.

Objective:To understand the current status of human resources in Operating Room nursing in China, so as to provide reference for nursing management, human resource allocation, nursing education and training in Operating Rooms.Methods:Using the stratified sampling method, a self-made Operating Room nursing human resource survey questionnaire of Chinese Nursing Society was used as a research tool in July 2021 to investigate the general situation, surgical workload, human resource allocation, Operating Room management, Operating Room information construction, nursing education and training of 2 201 hospitals in 31 provinces, autonomous regions and municipalities of China.Results:Among the 2 201 hospitals, there were 1 021 tertiary hospitals (46.39%), 1 177 secondary hospitals (50.75%), and 63 primary and below hospitals (2.86%). There were 2 056 hospitals with less than 30 Operating Rooms, accounting for 93.41%. There were 1 991 hospitals with an annual number of surgical cases less than 20 000, accounting for 90.46%, the educational background of Operating Room nurses was mainly undergraduate (66.93%, 43 359/64 780), with a total of 67.99% (44 045/64 780) having a bachelor's degree or above. Nurses were the main professional titles (42.66%, 27 632/64 780). Number of Operating Rooms: the number of Operating Room nurses (median) was 1: 2.43 and 78.96% (1 738/2 201) of hospital operating theatres were managed by Nursing Departments or hospitals. A total of 1 479 hospitals (67.20%) established anesthesia recovery rooms in their Operating Rooms, which was higher than 59.34% (1 210 hospitals) surveyed in 2016, and the difference was statistically significant (χ 2=226.701, P<0.01). 74.69% (1 644/2 201) and 87.87% (1 934/2 201) of hospitals carried out post management and capacity classification management in Operating Rooms, respectively. Day surgery and robotic surgery were performed in 47.80% (1 052/201) and 7.68% (169/2 201) hospitals, respectively. 36.98% (814/2 201) of the hospitals passed the information evaluation system certification and 64.61% (1 422/2 201) of the hospitals used the Operating Room information management system. In the Operating Room information system of the hospital, 2.54% (56/2 201) had intelligent functions. And 77.24% (1 700/2 201) of hospitals participated in the qualification training of Operating Room specialist nurses. Conclusions:By July 2021, the number of Operating Rooms in most hospitals in China is less than 30, and the annual number of operating cases is less than 20 000. The educational background and professional title of Operating Room nurses are mainly undergraduate and nurse. More than 60% of hospitals have set up anesthesia recovery rooms and have information management systems for Operating Rooms. At the same time, Operating Rooms in Chinese hospitals have widely implemented diversified nursing management models such as post management and ability grading management.

Objective:To investigate the clinical and gene variant characteristics of PCDH19 gene related epilepsy, and improve the ability of clinicians in early disease identification. Methods:The clinical data of 3 PCDH19 gene related epilepsy patients admitted to Children′s Hospital Affiliated to Zhengzhou University from October 2018 to August 2023 diagnosed by gene detection were reviewed and analyzed. Results:All the patients are female, and the onset age of seizure ranged in their infancy. Seizures in clusters and fever sensitivity were observed in all patients, and were very hard to control by single-drug treatment. Proband 1 was seizure-free after 2 kinds of anti-epileptic drug treatment, but with mild degree of intellectual disability. Proband 2 had refractory epilepsy with severe degree of intellectual disability. Proband 3 was seizure-free after 2 kinds of anti-epileptic drug treatment and without intellectual disability. In the first family, the proband carried heterozygous c.369C>G variant in the PCDH19 gene which was identified as de novo after parental validation. In the second family, the proband carried c.1652T>A variant inherited from her mother. In the third family, the proband carried c.278G>A variant inherited from her father. The 3 mutations had not been reported in the Human Gene Mutation Database. Conclusions:PCDH19 gene related epilepsy is one special kind of X-linked inherited epilepsy syndrome characterized by seizures in clusters and sensitivity to fever. And gene detection can help with early diagnosis and make rational clinical strategies in time. The variants c.369C>G, c.1652T>A and c.278G>A have enriched the gene variant spectrum of PCDH19.

Purpose: This study aims to elucidate the longitudinal alterations in frailty and health-related quality of life experienced by elderly patients undergoing surgical treatment for esophageal cancer. Additionally, it seeks to ascertain the impact of preoperative frailty on postoperative health-related quality of life over time. Methods: 131 patients were included in the prospective study. Patients' frailty and health-related quality-of-life were assessed utilizing the Tilburg and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 at preoperative, 1 week, 1 month, and 3 months, postoperatively. Statistical analyses were performed using generalized estimating equations, repeated-measures analysis of variance, and linear mixed models (LMMs). Results: Out of 131 patients, 28.2% had frailty before surgery, and the prevalence of frailty consistently higher after surgery compared with baseline (67.9%, 51.9%, and 39.7%). There was no significant change in frailty scores in preoperative frail patients within 3 months following surgery (p = .496, p < .999, p < .999); whereas in preoperative non-frail patients, the frailty scores increased at 1 week (p < .001) and then decreased at 1 month (p = .014), followed by no change at 3 months. In addition, preoperative frail patients had significantly worse global quality-of-life (β = −4.24 (−8.31; −.18), p = .041), physical functioning (β = −9.87 (−14.59; −5.16), p < .001), role functioning (β = −10.04 (−15.76; −4.33), p = .001), and social functioning (β = −8.58 (−15.49; −1.68), p = .015), compared with non-frail patients. Conclusions A significant proportion of participants exhibited a high prevalence of preoperative frailty. These patients, who were preoperatively frail, exhibited a marked reduction in health-related quality-of-life, a more gradual recovery across various functional domains, and an increased symptom burden during the follow-up period. Therefore, it is crucial to meticulously identify and closely monitor patients with preoperative frailty for any changes in their postoperative physiology, role, and social functioning.

Objective:To investigate the clinical characteristics of patients with combined oxidative phosphorylation deficiency type 4 (COXPD4) related to TUFM gene variation, in order to improve clinicians′ understanding of the disease. Methods:A case of COXPD4 with cystic leukodystrophy admitted to the Children′s Hospital of Zhengzhou University in June 2021 was taken as the study subject, and her clinical characteristics and genetic testing results were retrospectively analyzed. The "combined oxidative phosphorylation deficiency type 4" " TUFM gene" "cystic leukodystrophy" "combined oxidative phosphorylation deficiency 4" "COXPD 4" " TUFM" and "cystic leukodystrophy" were used as keywords, and the documents on COXPD4 related to TUFM gene mutations were reviewed from Wanfang Data Knowledge Service Platform, CNKI, PubMed Document Database, and National Center for Biotechnology Information (NCBI) until August 2021. The COXPD4 patients that have been reported internationally were analyzed for clinical features and variant types. Results:The patient was a 2-month-old girl with clinical manifestations of delayed development and progressive aggravation, elevated lactic acid in serum and cerebrospinal fluid, and diffuse white matter dysplasia with multiple cystic lesions in cerebral magnetic resonance imaging (MRI). Whole exome sequencing showed TUFM gene complex heterozygous variants c.684_684+4delGGTGA and c.1105C>T, which had not been reported in the past. A total of 5 cases of COXPD4 were reported in 4 English literatures. Together with 1 case in this study, there were 4 cases with detailed clinical history data, including 1 male and 3 females. The clinical manifestations were severe early-onset lactic acidosis and developmental lag, and 3 cases were accompanied by progressive infantile encephalopathy. Among them, 3 cases underwent head MRI examination, all of which showed diffuse white matter signal with multiple cystic lesions, 2 cases with basal ganglia involvement and multiple cerebellar gyri deformity. Genetic test indicated different types of TUFM gene variation. Conclusions:COXPD4 is a rare hereditary mitochondrial disease. For cases with COXPD4 clinical and imaging features, TUFM gene mutations can be screened first.

Objective:To investigate the clinical effect of free anterolateral thigh perforator flap(ALTPF) in reconstruction of temporal scalp defect after blood circulation reconstruction surgery for moyamoya disease.Methods:From May 2020 to July 2022, 7 patients with scalp defect after revascularisation of moyamoya disease were treated in Department of Hand and Foot Microsurgery, Henan Provincial People’s Hospital (People’s Hospital of Zhengzhou University). The patients were 4 males and 3 females, aged 33-59 years old, at 43 years old in average. There were 5 defects in left tempus and 2 in right tempus. The sizes of scalp defect were 4.5 cm × 5.5 cm-7.5 cm × 9.5 cm. Debridement and VSD management were primarily performed. After wounds were stabilised, ultrasound location of perforator vessels of ALTPFs was performed. Having confirmed that the perforator vessels were suitable for the surgical requirements, flap transfers were then performed. The descending branch of the lateral femoral circumflex artery was end-to-side anastomosed with the superficial temporal artery, and the descending branch of the lateral femoral circumflex vein was end-to-end anastomosed with the superficial temporal vein. Postoperative follow-up was conducted through outpatient clinic visits, telephone and WeChat reviews. Appearance, texture of ALTPFs and the flap donor sites were observed in follow-ups. Comparisons of the changes of nervous system before and after surgery were made. Cognitive function of the patients was assessed with the Mini Mental State Examination (MMSE), together with the Activities of Daily Living (ADL) .Results:All 7 flaps survived. One flap had vascular compromise 6 hours after surgery, and was rectified after surgical intervention. All the patients were included in the postoperative follow-up for 7-33 (average 19) months. All flaps had good appearance with soft texture. There was no obvious difference in colour comparing with the skin around the recipient region. The donor sites healed well without hypertrophic scar. Examinations of nervous system of the patients were found the same as that before surgery. Using Manual Muscle Testing (MMT), the average limb muscle strength of the patients was 4 before surgery and 4 after surgery, without change; Using the Ashworth assessment scale, the average preoperative and postoperative limb muscle tension in this group of patients was 1, without change; The Berg balance scale was used to evaluate the patient's balance function, with an average score of 42 before surgery and 42 after surgery, without any changes; There was no change in limb sensation before and after surgery; Using the MMSE, the average preoperative score and postoperative score of this group of patients were 25 points, without any change. Using the modified Barthel index scoring standard, the average preoperative score for this group of patients was 75 points, and the average postoperative score was 79 points, and the ADL of the patient had improved to various levels.Conclusion:Reconstruction of scalp defect with free ALTPF after revascularisation of moyamoya disease has obvious advantages, such as it closes the wound quickly, prevents infection and achieves a good appearance. This surgical procedure can produce a good clinical effect.

OBJECTIVE: To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD). METHODS: The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The child was found to harbor compound heterozygous variants of the SUOX gene, namely c.1200C>G (p.Tyr400*) and c.1406_1421delCCTGGCAGGTGGCTAA (p.Thr469Serfs*20), which were inherited from her mother and father, respectively. The c.1200C>G was a known pathogenic variant, while the c.1406_1421delCCTGGCAGGTGGCTAA was unreported previously and predicted to be a pathogenic variant (PVS1+PM2_Supporting +PM3) based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The compound c.1200C>G and c.1406_1421delCCTGGCAGGTGGCTAA variants of the SUOX gene probably underlay the pathogenesis of ISOD in this child. Above finding has expanded the spectrum of SUOX gene variants and provided molecular evidence for the clinical diagnosis and genetic counseling for this pedigree.
Child ; Female ; Humans ; Amino Acid Metabolism, Inborn Errors/genetics* ; Genetic Counseling ; Genomics ; High-Throughput Nucleotide Sequencing ; Mutation

Clinical data and genetic mutation characteristics of a patient with Coffin-Siris syndrome by 6q25.3 deletion were summarized. The child was a 7-year and 6-month old girl who had feeding difficulties, repeated infection, language and motor retardation, low intelligence, laryngeal cartilage dysplasia, thick eyebrows, sparse teeth, hairy back, hyperactivity and aggressive behavior, seizures and ataxia. There was no abnormality in chromosomal karyotype analysis by proband; genomic copy number variant sequencing (CNV-seq) indicated approximately 4.27 Mb heterozygous deletion in chromosome 6q25.3 region, with 17 genes including ARID1B gene, father maternal CNV-seq showing no abnormalities. Trio-whole-exome sequencing showed the proband missed all exons 1-20 of the ARID1B gene, with wild-type parents. The proband had severe clinical symptoms and haplodose insufficiency which was the genetic etiology.