Objective: To investigate the mortality, probability of premature death and trends due to malignant tumors, cardio-cerebrovascular diseases, diabetes and chronic respiratory diseases in Xiaoshan District, Hangzhou City from 2015 to 2021, so as to provide the basis for the formulation of chronic diseases prevention and control strategies. Methods: The deaths of the four diseases in Xiaoshan District from 2015 to 2021 were collected from Zhejiang Provincial Chronic Diseases Surveillance Information Management System. The crude mortality, standardized mortality and probability of premature death were calculated. The trends in mortality and probability of premature death were analyzed using average annual percent change (AAPC), and the attainment of probability of premature death due to the four diseases was evaluated using the targets of probability of premature death control in 2025 and 2030. Results: Totally 36 130 deaths due to the four diseases were reported in Xiaoshan District from 2015 to 2021. The crude mortality and standardized mortality were 445.20/105 and 237.81/105, which appeared a tendency towards a decline (AAPC=-1.427% and -4.051%, both P<0.05), and the probability of premature death decreased from 9.99% to 7.82%, (AAPC=-4.123%, P<0.05). The standardized mortality of malignant tumors, cardio-cerebrovascular diseases and chronic respiratory diseases appeared a tendency towards a decline (AAPC=-3.017%, -4.999%, and -6.024%, all P<0.05), while there was no significant trend in the standardized mortality of diabetes (AAPC=-0.847%, P>0.05). The probability of premature death due to malignant tumors appeared a tendency towards a decline (AAPC=-4.167%, P<0.05), while there was no significant trends seen in the probability of premature death due to diabetes, cardio-cerebrovascular diseases and chronic respiratory diseases (AAPC=0.638%, -5.250% and -2.022%, all P>0.05). The average probability of premature death due to the four diseases decreased by 4.00% each year, and decreased by 6.64% in 2025 and 5.42% in 2030 as predicted, which were both lower than the target values of 7.99% and 6.99%. Conclusions The mortality and probability of premature death due to the four diseases appeared a tendency towards a decline in Xiaoshan District from 2015 to 2021, with the probability of premature death of malignant tumors decreased significantly. It is predicted that the probability of premature death of the four diseases can reach the target in 2025 and 2030.

Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.

Objective:To analyze the clinical characteristics and prognosis of patients with myelodysplastic syndrome (MDS) with a bone marrow nucleated erythroid cell proportion of greater than or equal to 50% (MDS-E) .Methods:The clinical characteristics and prognostic factors of patients with MDS-E were retrospectively analyzed by collecting the case data of 1 436 newly treated patients with MDS diagnosed in the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences from May 2014 to June 2023.Results:A total of 1 436 newly diagnosed patients with complete data were included in the study, of which 337 (23.5%) patients with MDS-E had a younger age of onset and lower neutrophil and platelet counts compared with those in patients with an erythroid cell proportion of less than 50% (MDS-NE) (all P<0.05). The proportion of MDS cases with ring sideroblasts (MDS-RS) was higher in the MDS-E group than in the MDS-NE group, and multi-hit TP53 mutations were more enriched in the MDS-E group than in the MDS-NE group (all P<0.05). Among patients with MDS-RS, the frequency of complex karyotypes and the TP53 mutation rate were significantly lower in the MDS-E group than in the MDS-NE group (0 vs 11.9%, P=0.048 and 2.4% vs 15.1%, P=0.053, respectively). Among patients with TP53 mutations, the frequencies of complex karyotypes and multi-hit TP53 mutations were significantly higher in the MDS-E group than in the MDS-NE group (87.5% vs 64.6%, P=0.003 and 84.0% vs 54.2%, P<0.001, respectively). Survival analysis of patients with MDS-RS found that the overall survival (OS) in the MDS-E group was better than that in the MDS-NE group [not reached vs 63 (95% CI 53.3-72.7) months, P=0.029]. Among patients with TP53 mutations and excess blasts, the OS in the MDS-E group was worse than that in the MDS-NE group [6 (95% CI 2.2-9.8) months vs 12 (95% CI 8.9-15.1) months, P=0.022]. Multivariate analysis showed that age of ≥65 years ( HR=2.47, 95% CI 1.43-4.26, P=0.001), mean corpuscular volume (MCV) of ≤100 fl ( HR=2.62, 95% CI 1.54-4.47, P<0.001), and TP53 mutation ( HR=2.31, 95% CI 1.29-4.12, P=0.005) were poor prognostic factors independent of the Revised International Prognostic Scoring System (IPSS-R) prognosis stratification in patients with MDS-E. Conclusion:Among patients with MDS-RS, MDS-E was strongly associated with a lower proportion of complex karyotypes and TP53 mutations, and the OS in the MDS-E group was longer than that in the MDS-NE group. Among patients with TP53 mutations, MDS-E was strongly associated with complex karyotypes and multi-hit TP53 mutations, and among TP53-mutated patients with excess blasts, the OS in the MDS-E group was shorter than that in the MDS-NE group. Age of ≥65 years, MCV of ≤100 fl, and TP53 mutation were independent adverse prognostic factors affecting OS in patients with MDS-E.

Objective:This study aimed to assess left atrial function in adults across various age groups using 4-dimensional automated left atrial quantification(4D Auto LAQ)technology.The study also aimed to compare the differences in two-dimensional(2D)and four-dimensional(4D)strains of the left atrium among different age groups, with the goal of enhancing the clinical utility of 4D Auto LAQ.Methods:A total of 409 healthy volunteers were recruited for the research.Two-dimensional and four-dimensional images were obtained using a GE Vivid E95 ultrasound system with a 4Vc four-dimensional probe.The study examined variations in 2D and 4D ultrasound parameters across various age groups.Furthermore, the relationship between left atrial reservoir strain(LASr), Left atrial conduit strain(LAScd), left atrial contraction strain(LASct), and age was explored.Results:The study involved 409 volunteers, with 217 males and 192 females, who were categorized into three age groups: young(18-45 years, n=56), middle-aged(46-65 years, n=202), and elderly(>65 years, n=151).Conventional ultrasound measurements indicated changes in left atrial anterior-posterior diameter with age progression: (31.70±3.65)mm for the young group, (34.02±3.91)mm for the middle-aged group, and(35.2±4.37)mm for the elderly group( P<0.01).The 2D and 4D left atrial parameters across the age groups were as follows: LASr(2D)(%): 37.48±7.51, 30.95±8.23, 26.9±7.56( P<0.01); LA VImax(ml/m 2): 23.54±5.79, 26.33±7.6, 28.99±8.15( P<0.01); LASr(%): 31.2±17.07, 22.5±8.59, 19.49±7.47( P<0.01).Both 2D and 4D left atrial parameters exhibited significant associations with age.Specifically, the correlations between LASr(2D)(%), LAScd(2D)(%), LASr(%), LAScd(%), and age were -0.429, 0.580, -0.354, 0.298, respectively( P<0.01). Conclusions:The 4D Auto LAQ technology is efficient in assessing left atrial function across various age groups, with age playing a significant role in influencing left atrial parameters.When compared to other ultrasound parameters, both 2D and 4D left atrial strain parameters have the ability to detect differences at an early stage, making them suitable for the early screening, evaluation, and monitoring of age-related left atrial dysfunction, especially in the elderly population.

Objective:To investigate the status quo of multi-level pre-job training for clinical nursing teachers and analyze their training needs, so as to provide reference for the design of pre-job training for clinical nursing teachers.Methods:A cross-sectional survey method was used to investigate 172 clinical nursing teachers in a tertiary general hospital in Harbin from April 2020 to June 2020 with multi-level pre-job training mode. The status quo of pre-job training and the training needs of teachers were analyzed. SPSS 17.0 was used to process the original data statistically.Results:Among the 172 respondents, 138 teachers (80.2%) were under 35 years old, and 133 teachers (77.3%) had a bachelor's degree or less; 89 teachers (51.7%) confirmed that hospitals or departments would carry out pre-job training in a planned and organized way, 10 teachers (5.8%) said that hospitals or departments had never organized training, 41 teachers (23.8%) had never participated in pre-job training, and 80 teachers (46.5%) had participated in pre-job training 1-3 times. There were 5 duplicates in the first 8 training contents of in-hospital training and in-department training, including knowledge of common diseases, nursing procedures, communication skills, hospital rules and regulations, and teaching methods. The total score of training demand was (154.51± 40.35) points, and the overall demand rate was 81.3%, which was at the high level. The dimensions with the highest scoring rate were legal system and humanistic literacy, with a scoring rate of 83.0%. The dimension with the lowest score was teaching management, with a score of 74.9%. The scoring rate of training needs with the highest points won nine items respectively on students' basic quality (self-supervision, willingness to learn, professional quality, etc.) (84.7%), training of legal knowledge (84.4%), incompatibility of drugs commonly used in department (84.3%), nurse etiquette (83.3%), nursing risk prevention (83.1%), evaluation methods of student education (83.1%), nurse-patient communication skills (83.0%), nurses and patients medication observation points of commonly used drugs in the department (83.0%), and effects of commonly used drugs in department (82.9%). Among the top three training forms, 84 students (48.8%) received online learning, 74 students (43.0%) received lectures from experienced teachers in hospitals, and 72 students (41.9%) received experience exchange and sharing seminars.Conclusion:The talent structure of clinical nursing teachers in this hospital is relatively young, and the first education level is low. Therefore, the pre-job training of clinical nursing teachers should be strengthened vigorously. The awareness rate and participation rate of pre-job training are average, so we should strengthen the release of training information from various channels, improve the awareness rate of training activities, clarify the encouragement or reward measures to participate in pre-job training activities, and improve the participation rate of training activities. Pre-job training content is repeated at every level, with a gap between the training needs of teachers in clinical nursing teaching. It's suggested that the teaching hospitals combine with their training objects of training needs, take the online-offline mixed mode of training, reasonably plan training contents as a whole at all levels, avoid training content repetition and waste of teachers, and organize teachers to timely exchange and share experiences.

OBJECTIVE: To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. METHODS: A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. RESULTS: Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal. CONCLUSION The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.
Humans ; Fetus/abnormalities* ; Chromosomes, Human, Pair 8 ; Female ; Pregnancy ; Karyotyping

Objective:In this study, the collected mosquito samples were subjected to viral isolation to identify the species and branch characteristics of arboviruses in five regions of Shanxi Province.Methods:Eight arboviruses in mosquito samples collected from July to September 2020 were detected by real-time fluorescent quantitative PCR, and virus isolation was carried out through cell culture. Virus isolates were identified and analyzed by molecular biology and bioinformatics method.Results:We detected 1 batch of positive samples of Japanese encephalitis virus, 2 batches of positive samples of Culex flavivirus and 8 batches of positive samples of Nam Dinh virus among 121 batches of mosquito samples. Seven virus isolates were isolated, numbered: SX-YJ-Cxp-4、SX-YJ-Ars-2、SX-YJ-Cxp-1、SX-LY-Cxp-10、SX-GP-Ars-5、SX-GP-Cxp-2、SX-GP-Cxp-4, all of which were identified as Nam Dinh virus, and the whole genome sequencing was performed on one of them, and the result showed that Shanxi Nam Dinh virus isolate and Yunnan Nam Dinh virus isolate belonged to the same evolutionary branch.Conclusions:Nam Dinh virus was isolated and identified on the specimen from Shanxi province for the first time.

Objective:To explore the application of cognitive interview (CI) in intercultural adaptation of the Happiness Scale for Middle-Aged Women (HAS-MW) .Methods:This was a qualitative study. In January 2022, 20 middle-aged women in community of Yanji City were selected by purposive sampling for two rounds of CI, and 10 subjects participated in each round of CI. According to the interview outline, we understood the understanding of the subjects on the HAS-MW items that were preliminarily localized in Chinese. The expert group discussed and revised the items of the scale according to the interview results.Results:In this study, a total of 2 rounds of cognitive interviews were conducted, the age of 10 respondents (P1-P10) in the first round was (49.00±3.55) , and the age of 10 respondents (P11-P20) in the second round was (51.00±3.16) . After the first round, 6 items in HAS-MW were revised due to "imperfect language, grammar and expression". The second round of CI results showed that the respondents understood the contents of the revised scale items and believed that they were consistent with the original scale.Conclusions:Through CI, we can comprehensively understand middle-aged women's understanding of the content of the HAS-MW, effectively find out the cognitive bias caused by improper language expression in the process of the scale's localization, improve the understanding of the content of the scale by the interviewees, which is conducive to intercultural adaptation of the HAS-MW and provides a reference for the revision of the scale.

Objective:To investigate the microstructural abnormalities of the white matter in first-episode medication-free patients with schizophrenia (FESZ) based on inter-voxel diffusivity metric local diffusion homogeneity (LDH) and traditional intra-voxel diffusivity metric.Methods:A total of 56 FESZ patients admitted to our hospital from January 2020 to December 2021 were selected as research subjects, and 64 healthy volunteers recruited during the same period were selected as healthy controls. All subjects accepted magnetic resonance diffusion tensor imaging, and the LDH, anisotropy fraction (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) were obtained by FSL and PANDA software. Tract-based spatial statistics (TBSS) method was employed to analyze and compare the differences in the diffusivity metrics of white matter fibers between the two groups. For white matter fiber tracts with significant inter-group differences, receiver operating characteristic(ROC) curve was used to evaluate the diagnostic value of each diffusivity metric in FESZ, and Spearman partial correlation was used to analyze the relation between each diffusivity metric and positive and negative symptom scale (PANSS) scores.Results:As compared with that in the heathy control group, LDH in partial voxel clusters in bilateral anterior thalamic radiation of the FESZ group was statistically increased ( P<0.05, FWE correction). As compared with that in the heathy control group, the mean LDH in the tracts of interest (TOI) of the right inferior longitudinal fasciculus and the right uncinate fasciculus in the FESZ group was significantly increased ( P<0.05, FDR correction). In the above 4 fasciculi, ROC analysis showed that LDH had diagnostic efficacy ( P<0.05), and the diagnostic efficacy of LDH was the highest when the fasciculi structures were combined (AUC=0.733, P<0.001). LDH in white matter fiber tracts with significant inter-group differences had no statistical correlation with PANSS scores ( P>0.05). No voxel clusters or TOIs enjoyed statistical differences between groups were noted in the FA, MD, AD and RD parameter maps ( P>0.05). Conclusion:The inter-voxel diffusivity metric LDH can detect the compensatory changes of white matter microstructure in FESZ patients that could not be detected by traditional intra-voxel diffusivity metric.

Objective:To compare the differences in sleep structure between healthy children and children with cerebral palsy (CP) using polysomnography (PSG).Methods:Fifty-six children aged 1-15 hospitalized for cerebral palsy formed the experimental group, while 30 healthy children served as controls. Both groups were given 24-hour PSG, and their sleep structures were compared and analyzed.Results:The incidence of sleep disorders in the children with cerebral palsy (55.4%) was significantly higher than among the healthy children (20.0%). The average sleep latency was significantly higher than among the healthy children, while the duration and the percentage of the rapid eye movement (REM) stage were significantly lower than among the healthy children. Total sleep time [(458.47±95.62)min], sleep efficiency [(74.26±13.63)%], duration of REM [(68.90±42.70)min] and REM percentage [(13.87±7.12)%] were all significantly lower for the children with severe cerebral palsy than for those with mild or moderate disorder. Their time to wake up after falling asleep was significantly longer. Moreover, the duration of REM and the REM percentage of children with dyskinetic cerebral palsy were significantly lower than for those with spastic cerebral palsy.Conclusions:The incidence of sleep disorders among children with cerebral palsy is higher than among healthy children. They have more difficulty in falling asleep and have a shorter REM stage. Children with severe cerebral palsy and involuntary cerebral palsy have more sleep problems.