Objective To analyze the influenza-like illness (ILI) data in Ordos City from 2017 to 2023 and conduct nucleic acid detection of the virus to understand the local influenza epidemic situation, and to provide a reliable basis for influenza prevention and control in the city. Methods Real-time quantitative polymerase chain reaction (qPCR) was used to identify virus subtypes in ILI throat swab samples. Comparisons of positive rates were conducted using the chi-square test, with a significance level of α=0.05. Results From 2017 to 2023, a total of 3,283,434 outpatient and emergency visits were recorded at the Ordos City Central Hospital, including 74,159 ILI cases, with an ILI proportion of 2.26%. The majority of ILI cases (74.43%) occurred in children aged 0~14 years old. The overall positive rate of influenza virus nucleic acid detection was 10.87%, with the highest proportion being subtype A (seasonal H3) at 43.03%. The highest detection rate was observed in the 5~14 years age group, with statistically significant differences in positive rates across age groups (χ²=155.638, P<0.001). Influenza peaks occurred mainly from November to March of the following year. From January to April, three types of influenza were prevalent alternately or mixed, while from October to December, subtype A (seasonal H3) predominated. Positive rates varied significantly across months (χ²=250.923, P<0.001). The temporal trends of ILI proportions and PCR-positive rates were consistent. Conclusion Influenza in Ordos City exhibits distinct seasonal and age distribution characteristics, with alternating or mixed circulation of three virus types. Continued efforts are needed to strengthen influenza surveillance, especially the prevention and control of influenza in infants and adolescents.

OBJECTIVE: To explore the clinical features and genetic etiology of a child with a SETD1B gene variant causing seizures and language delay. METHODS: A child with a SETD1B gene variant admitted to the Department of Pediatric Neurology at the Third Affiliated Hospital of Zhengzhou University in September 2022 was selected as the study subject. Clinical data of the child were collected, and peripheral blood samples from the child and her parents were obtained. Whole exome sequencing (WES) was performed for genetic testing, and Sanger sequencing was used for familial validation of the candidate variant. Using "SETD1B" and "epilepsy" as the Chinese and English keywords, relevant cases were retrieved from databases including CNKI, Wanfang Data, OMIM and PubMed, with the search period spanning from database inception to June 2024. RESULTS: The child was a 6-year-old female presenting with myoclonic seizures accompanied by global developmental delay. WES and Sanger sequencing revealed that the child has carried a de novo SETD1B gene variant, namely c.5582G>A (p.Cys1961Tyr). According to the American College of Medical Genetics and Genomics (ACMG) guidelines for sequence variant interpretation, this variant was classified as likely pathogenic (PS2+PM2_Supporting+PP2+PP3). The child was not controlled with effective doses of valproate, levetiracetam, or clonazepam but was successfully managed with low-dose lamotrigine. Follow-up electroencephalography showed normal results, and developmental progress gradually improved. A total of 37 epilepsy cases with SETD1B gene variants were reported across six studies. The predominant seizure types included absence seizures and myoclonic absence seizures, accompanied by delayed language development. The response to pharmacological treatment was generally poor, with no significant difference in incidence between males and females. CONCLUSION SETD1B gene variants may cause neurological disorders with drug-resistant epilepsy and severe clinical manifestations. Lamotrigine is effective in controlling the epileptic seizures.
Humans ; Female ; Child ; Epilepsy/genetics* ; Language Development Disorders/genetics* ; Histone-Lysine N-Methyltransferase/genetics* ; Exome Sequencing ; Male

OBJECTIVE: To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants. METHODS: The clinical data of 6 children with RARS2 gene variants diagnosed at the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2024 were collected. Genetic variants were detected using trio-whole exome sequencing. Genomic DNA was extracted from samples and subjected to high-throughput sequencing. Variants were detected and analyzed using relevant databases and software. Pathogenic variants were validated by Sanger sequencing. The protein structure encoded by a previously unreported variant was predicted using a SWISS-MODEL online server. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-373-01). RESULTS: Among the six children, four were males and two were females, with the most recent follow-up age ranging from 1-year-and-1-month to 7 years old. The age of onset was under 1 year in all cases. All six children exhibited seizures, including infantile spasms in three, spasms and tonic spasms in one, and focal seizures in two. One child became seizure-free for 4 ~ 5 years following Valproic acid combined with topiramate and adrenocorticotropic hormone (ACTH) pulse therapy, but subsequently experienced a relapse. Another child has remained seizure-free for nearly one year with oral sodium valproate, levetiracetam, and a "cocktail" therapy. Seizures were not controlled in the remaining four children. Pontocerebellar hypoplasia was observed on neuroimaging in two children. All six patients exhibited severe psychomotor retardation. A total of 10 RARS2 gene variants were identified, three of which were previously unreported. CONCLUSION The predominant clinical features of Pontocerebellar hypoplasia associated with RARS2 gene variants include infantile onset, severe psychomotor retardation or regression, drug-resistant epilepsy, and feeding difficulties. The characteristic neuroimaging finding is pontocerebellar hypoplasia. However, its appearance may vary widely with time. The majority of affected children have a poor prognosis.
Humans ; Male ; Female ; Child, Preschool ; Infant ; Child ; Olivopontocerebellar Atrophies/genetics* ; Arginine-tRNA Ligase/genetics* ; Mutation ; Cerebellar Diseases

Objective:To evaluate the clinical value of combined detection of placenta associated 8 (PLAC8) and platelet activating factor acetylhydrolase (PLA2G7) for early identification of sepsis and non-infectious systemic inflammatory response syndrome (SIRS).Methods:A cross-sectional study was conducted. A total of 189 febrile patients suspected infection who were admitted to Huashan Hospital, Fudan University from October 2022 to April 2023 were included. Based on etiological, laboratory test results and clinical data, patients were classified as infection or non-infection, and further classified as sepsis or non-infectious SIRS according to diagnostic criteria. Real-time fluorescence polymerase chain reaction was used to detect the mRNA levels of PLAC8 and PLA2G7 in peripheral venous blood of patients. Hematology, inflammatory markers including C-reactive protein (CRP), interleukin-6 (IL-6) and procalcitonin, sepsis-related organ failure assessment (SOFA) score, and the difference of cycle threshold (Ct) values between PLA2G7 and PLAC8 ((PLA2G7-PLAC8)ΔCt value))were compared between the sepsis and non-infectious SIRS groups. Statistical comparison was analyzed using Mann-Whitney U test, and the diagnostic performance of (PLA2G7-PLAC8)ΔCt value in discriminating sepsis from non-infectious SIRS was evaluated using receiver operating characteristic curve. Results:Among the 189 febrile patients suspected infection, there were 80 non-infectious patients, including 51 non-infectious SIRS patients, and 109 infection patients, including 53 sepsis patients. The neutrophil ratio, CRP, IL-6, procalcitonin, and SOFA score of non-infectious SIRS patients were lower than those of the sepsis group, and the differences were all statistically significant ( Z=-2.70, -3.11, -2.16, -3.76 and -2.33, respectively, all P<0.05). The (PLA2G7-PLAC8)ΔCt value in the non-infectious SIRS group was 4.38(1.41), which was lower than 8.18 (6.19) in the sepsis group, with a statistically significant difference ( U=193.50, P<0.001). The area under the receiver operating characteristic curve (AUROC) for (PLA2G7-PLAC8)ΔCt value in the differential diagnosis of sepsis and non-infectious SIRS was 0.859, with the optimal cut-off value of 5.86. The sensitivity and specificity were 82.2% and 71.9%, respectively. When combined with procalcitonin, the AUROC was 0.917, with a sensitivity of 95.6% and specificity of 70.6%. Conclusions:The (PLA2G7-PLAC8)ΔCt value in peripheral blood has good clinical value for early identification of sepsis and non-infectious SIRS, especially when combined with procalcitonin, which could further improve the accuracy of differential diagnosis.

Temporomandibular disorders (TMD) are a heterogeneous group of diseases that affect the temporomandibular joint, chewing muscle system, dental occlusion, and even various structures throughout the body, with significant characteristics of biological-psychological-social pattern. TMD related chronic pain, as the most important clinical symptom, can result in negative emotions seriously affecting patients′ quality of life and physical and mental health. Although a variety of therapies have been previously reported to treat TMD related chronic pain, there is a lack of widely recognized therapies. Professor Jason W Busse (from Michael G DeGroote National Pain Centre, McMaster University, Hamilton ON, Canada) took the lead and collaborated with multiple internationally renowned schools/hospitals of stomatology to develop an international consensus on the management of chronic pain associated with TMD, a clinical practice guideline, which took two years and was published in December 15th, 2023 in a global top journal of clinical research The British Medical Journal. This clinical practice guideline explored the comparative effectiveness of available therapies for chronic pain associated with TMD, conditionally recommended the specific intervention for different treatment or pain relief, proposed a comprehensive, agreed, and standardized clinical practice guideline. This present article describes the methodology and key elements of the clinical practice guideline to help clinicians fully understand and appropriately apply this guidance, which could provide the references for clinical practice of TMD associated chronic pain in China.

Objective:To investigate the prevalence of positive hepatitis C virus (HCV) antibody, HCV RNA and genotype distribution of HCV in high-risk populations in Pudong New Area, Shanghai City, so that to provide evidence for making "hepatitis C micro elimination" strategies in Shanghai area.Methods:A survey with proportional sampling method was conducted among the high-risk populations, including people who inject drugs (PWID), voluntarily or compulsorily accepted drug detoxification or methadone treatment, human immunodeficiency virus voluntary counseling and testing (HIV VCT) outpatients, sexually transmitted disease (STD) outpatients, and commercial sex workers, who participated in the routine physical examination activities held by the community health service centers and public hospitals of Pudong New Area from July 2021 to November 2022. The residual plasma samples were collected from medical examinations. HCV antibody was tested in all samples. HCV RNA and HCV genotype were tested in samples with positive HCV antibody results.Results:A total of 1 000 HCV high-risk people were screened, including 453 PWID, 166 human immunodeficiency virus (HIV) infectors, 245 STD outpatients, and 136 commercial sex workers. The positive rates of HCV antibody in the four categories of personnel were 21.85%(99/453), 1.81%(3/166), 1.22%(3/245) and 0(0/136), respectively. The positive rate of HCV RNA was 42.68%(35/82) among HCV antibody positive people in high-risk populations. As much as 74.29%(26/35) of HCV RNA positive people had junior high school education or less, and 77.14%(27/35) of them were not married. Among the 12 samples tested for HCV genotype, five were genotype 3, five were genotype 6, and two were subtype 1b.Conclusions:PWID is the main high-risk HCV infection population, who should be the target of the following "hepatitis C micro elimination" strategies. The proportions of genotype 3 and genotype 6 are high in the high-risk HCV infection populations, and the pan-genotype direct-acting antiviral agent treatment may be more suitable in this situation. HCV infected persons in high-risk groups have low education level and marriage rate, which indicates that education and care in community are needed.

Objective:To investigate the distribution and related factors of lipoprotein(a) [Lp(a)] level in healthy Tajik and Kazak adults in China.Methods:A cross-sectional study was conducted from May to October 2021 and March to June 2022, and blood samples were collected from 2, 637 healthy Tajik adults [1 010 men, average age: (40.08±14.74) years; 1 627 women, average age: (38.27±12.90) years] in Tashkurgan Tajik Autonomous County and 1 911 healthy Kazak adults [720 men, average age: (42.10±12.26) years; 1 191 women, average age: (38.27±12.90) years] in Fuyun County of Xinjiang. Fasting blood glucose (FBG), creatinine (Cr), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and Lp(a) were measured. The distribution of Lp(a) levels in different sex and age groups was compared. The Lp(a) level of Tajik and Kazakh ethnic groups was compared by Mann-Whitney U test, and correlation factors of Lp(a) level were analyzed by multiple logistic regression. Results:The distribution of Lp(a) level in Tajik and Kazak population was skewed. Lp(a) levels of Tajik and Kazak ranged from the lowest 0.40 mg/L and 0.62 mg/L to the highest 1 229.40 mg/L and 2 108.58 mg/L, respectively, and the median Lp(a) level was 78.90 (38.60, 190.20) mg/L and 103.30 (49.57, 234.27) mg/L, respectively. Median Lp(a) level of Kazak was significantly higher than that of Tjik ( P<0.001). The median Lp(a) levels of Tajik males and females were similar: 77.45 (39.80, 187.10) mg/L and 79.90 (38.60, 192.30) mg/L ( P=0.948). The median Lp(a) levels of Kazakh males and females were also similar: 109.42 (50.49, 230.38) mg/L and 99.01 (49.11, 237.25) mg/L, respectively ( P=0.578). After pooling the data of Tajik and Kazak and adjusting for age, sex, BMI, smoking, drinking, blood pressure, blood glucose and other factors, Lp(a) level was correlated with ethnic (standard partial regression coefficient 0.066, P=0.008) and LDL-C level (standard partial regression coefficient 0.136, P<0.001). Conclusions:Lp(a) level in healthy Tajik and Kazak adults varied greatly among individuals, and Kazak residents had a higher Lp(a) level than Tajik residents. There was no significant sex difference in Lp(a) level among Tajik and Kazakh, and LDL-C and ethnicity are independent factors related to Lp(a) level.

Objective:To explore the relationship between clinical nurses' psychological capital, compassion fatigue with work engagement, and analyze the mediating effect of psychological capital between compassion fatigue and work engagement, so as to provide scientific evidence for reducing compassion fatigue and improving work engagement of clinical nurses.Methods:From December 2021 to February 2022, 494 clinical nurses from 7 general hospitals in Sichuan Province were selected for the study using convenience sampling. The General Information Questionnaire, the Compassion Fatigue Short Scale, the Work Engagement Short Scale and the Psychological Capital Questionnaire for Nurses were used to conduct the survey. Pearson correlation was used to analyze the correlation between compassion fatigue, work engagement and psychological capital. And stepwise regression analysis and Bootstrap method were used to analyze the effects of compassion fatigue and psychological capital on work engagement as well as the mediating effect of psychological capital between compassion fatigue and work engagement.Results:Of the 494 clinical nurses, 33 (6.7%) were male and 461 (93.3%) were female, with an average age of (31.47±6.89) years old and an average working years (9.87±7.61) years. The average scores of psychological capital, compassion fatigue and work engagement of clinical nurses were (5.01±0.76), (3.19±2.08) and (4.60±1.37) points, respectively. Compassion fatigue was negatively correlated with psychological capital and work engagement ( r=-0.608, -0.580, P<0.001), and work engagement was positively correlated with psychological capital ( r=0.771, P<0.001). Compassion fatigue and psychological capital together accounted for 61.3% of the variation in work engagement, with the direct effects on work engagement were -0.206 (95% CI: -0.283--0.138, P<0.001) and 0.677 (95% CI: 0.599-0.744, P=0.001), respectively. Psychological capital partially mediated the relationship between compassion fatigue and work engagement, with a mediating effect of -0.397 (95% CI: -0.456--0.340, P<0.001), accounting for 65.8% of the total effect. Conclusion:The work engagement of clinical nurses is at a high level. Managers should take targeted measures to alleviate the symptoms of clinical nurses' compassion fatigue, improve their psychological capital, and then stabilize and improve their level of work engagement.

Objective: To investigate the prevalence of dyslipidemia and the level of blood lipids among Tajik people in Pamir Plateau, Xinjiang, and explore the related factors of dyslipidemia. Methods: It is a retrospective cross-sectional study. A multi-stage cluster random sampling survey was conducted among 5 635 Tajiks over 18 years old in Tashkorgan Tajik Autonomous County, Xinjiang Province from May to October 2021. Data were collected through questionnaire survey (general information, medical history, and personal history), physical examination (height, weight, waist, and blood pressure) and blood test (total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and high-density cholesterol (HDL-C)) to analyze the dyslipidemia and its risk factors among Tajiks. Results: The age of Tajik participants was (41.9±15.0) years, including 2 726 males (48.4%). The prevalence of borderline high TC, high LDL-C and high TG levels were 17.2%, 14.7% and 8.9%, respectively. The prevalence of high TC, high LDL-C, high TG and low HDL-C were 4.1%, 4.9%, 9.4% and 32.4%, respectively, and the prevalence of dyslipidemia was 37.0%. There is a positive correlation between male,higher education level, higher body mass index (BMI) value,waist circumference, living in town, smoking and dyslipidemia. Conclusions: The low prevalence of high TC, high LDL-C, high TG and high prevalence of low HDL-C was a major characteristic of Tajik people in Pamir Plateau of Xinjiang. The lower rates of overweight and obesity may be one of the reasons for the lower prevalence of dyslipidemia among Tajik.
Adult ; Humans ; Male ; Middle Aged ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Cross-Sectional Studies ; Dyslipidemias/epidemiology* ; Hypercholesterolemia/epidemiology* ; Hypertriglyceridemia/epidemiology* ; Prevalence ; Retrospective Studies ; Female

Objective: To investigate the prevalence of dyslipidemia and the level of blood lipids among Tajik people in Pamir Plateau, Xinjiang, and explore the related factors of dyslipidemia. Methods: It is a retrospective cross-sectional study. A multi-stage cluster random sampling survey was conducted among 5 635 Tajiks over 18 years old in Tashkorgan Tajik Autonomous County, Xinjiang Province from May to October 2021. Data were collected through questionnaire survey (general information, medical history, and personal history), physical examination (height, weight, waist, and blood pressure) and blood test (total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and high-density cholesterol (HDL-C)) to analyze the dyslipidemia and its risk factors among Tajiks. Results: The age of Tajik participants was (41.9±15.0) years, including 2 726 males (48.4%). The prevalence of borderline high TC, high LDL-C and high TG levels were 17.2%, 14.7% and 8.9%, respectively. The prevalence of high TC, high LDL-C, high TG and low HDL-C were 4.1%, 4.9%, 9.4% and 32.4%, respectively, and the prevalence of dyslipidemia was 37.0%. There is a positive correlation between male,higher education level, higher body mass index (BMI) value,waist circumference, living in town, smoking and dyslipidemia. Conclusions: The low prevalence of high TC, high LDL-C, high TG and high prevalence of low HDL-C was a major characteristic of Tajik people in Pamir Plateau of Xinjiang. The lower rates of overweight and obesity may be one of the reasons for the lower prevalence of dyslipidemia among Tajik.
Adult ; Humans ; Male ; Middle Aged ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Cross-Sectional Studies ; Dyslipidemias/epidemiology* ; Hypercholesterolemia/epidemiology* ; Hypertriglyceridemia/epidemiology* ; Prevalence ; Retrospective Studies ; Female