Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.

BACKGROUND: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China. METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date. RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full. CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.

[Osteoporosis Screening Values of Osteoporosis Self-Assessment Tool for Asians Index and Body Mass Index in Middle-Aged and Elderly Tibetan Population in Tibet].

Objective: To analyze the screening value of osteoporosis self-screening tool for Asia (OSTA) and body mass index (BMI) for osteoporosis (OP) in middle-aged and elderly Tibetan population in the Tibetan region. Methods: Data on demographic information, bone mineral density (BMD), and other information of 627 middle-aged and elderly people were collected. Analysis of the correlation between OSTA index, BMI and BMD, and receiver operating characteristic (ROC) curve was performed to evaluate the OP screening effects. Results: OSTA index and BMI were correlated with BMD in both female and male populations ( P<0.05). In both male and female populations, OSTA index screening results for OP yielded higher area under the curve ( AUC) than BMI did, with the AUC for female OSTA index being 0.886 and that for female BMI being 0.785, while that for male OSTA index being 0.957 and that for male BMI being 0.834. When comparing the different age groups, the AUC of OSTA index and BMI of the middle-age group was higher than those of the quasi-elderly group and the elderly group, with the AUC of OSTA index and BMI of the middle-age being 0.939 and 0.858, those of the quasi-elderly group being 0.860 and 0.813, and those of the elderly group being 0.750 and 0.650, respectively. When the optimal cut-off value of diagnosis with OSTA index was －2.20, the sensitivity and specificity were both 100%. When the optimal cut-off value for diagnosis with BMI was 17.512 kg/m2, the sensitivity and specificity were both 100%. Conclusion: OSTA index and BMI have different OP screening effects in different middle-aged and elderly Tibetan populations, and OSTA index shows better effects for OP screening than BMI does.

The Association of Outdoor Walking Per Week with Mental Health and Costs of Psychotropic Drugs in Adults.

Regular walking confers many physical health benefits, including a reduced risk of disease-specific and all-cause mortality and better physical fitness. However, less is known about its role in mental health. Thus, the aims of this study were to determine the associations of outdoor walking per week with costs of psychotropic drugs used and mental health in adults. 500 adults aged 18 to 64 years in Hangzhou (China) reported sex, age, the name of the psychotropic drugs used and their dosage, and outdoor walking during the past 7 days. The cost that a person spends on buying psychotropic drugs for a month was considered psychotropic drugs costs. Overall mental health was assessed using the Chinese Version of the 12-Item General Health Questionnaire. The levels of walking in participants taking psychotropic were significantly lower than participants who did not taking psychotropic (p = 0.002). There was a significant negative correlation between mental health scores and minutes of walking per week and a significant positive correlation between the number of psychotropic drugs used and walking per week (p < 0.05). However, no particular associations were found between costs of psychotropic drug used and walking per week. Outdoor walking is prospectively associated with better overall mental health in adults. Then, awareness should be raised about the possible positive effects of outdoor walking on the mental health of adults.

Comparative cost-effectiveness of first-line pembrolizumab plus chemotherapy vs. chemotherapy alone in persistent, recurrent, or metastatic cervical cancer.

Background: Treating persistent, recurrent, or metastatic cervical cancer remains challenging. Although pembrolizumab, combined with chemotherapy and bevacizumab, offers a promising first-line option, its cost-effectiveness within the Chinese healthcare system has not been established. Methods: A partitioned survival model was constructed using patient data from the KEYNOTE-826 trial. Efficacy, safety, and economic data from both trial and real-world practices were utilized to determine the costs, quality-adjusted life years (QALYs), and incremental cost-effectiveness ratio (ICER) of the treatment strategies. Comprehensive insights were gained through the sensitivity and subgroup analyses. Results: Over five years, the combination of pembrolizumab, chemotherapy, and bevacizumab offered an additional 1.18 QALYs compared to that provided by standard treatments. This regimen increased the costs by US$ 134,502.57, resulting in an ICER of US$ 114,275.67 per QALY, relative to traditional treatment costs. The ICER for the pembrolizumab regimen was further calibrated to be US$ 52,765.69 per QALY. Both ICER values surpassed China's established willingness-to-pay threshold. Importantly, subgroup analysis revealed enhanced cost-effectiveness in patients presenting with a programmed death-ligand 1 combined positive score (PD-L1 CPS) ≥10. Conclusion: Introducing pembrolizumab alongside chemotherapy and bevacizumab may not be a cost-effective primary strategy for advanced cervical cancer against current standards. However, for patients with a PD-L1 CPS ≥10, the therapeutic and economic outcomes could be improved by adjusting the pembrolizumab price.

Systems biological assessment of altered cytokine responses to bacteria and fungi reveals impaired immune functionality in schizophrenia.

Evidence suggests that complex interactions between the immune system and brain have important etiological and therapeutic implications in schizophrenia. However, the detailed cellular and molecular basis of immune dysfunction in schizophrenia remains poorly characterized. To better understand the immune changes and molecular pathways, we systemically compared the cytokine responses of peripheral blood mononuclear cells (PBMCs) derived from patients with schizophrenia and controls against bacterial, fungal, and purified microbial ligands, and identified aberrant cytokine response patterns to various pathogens, as well as reduced cytokine production after stimulation with muramyl dipeptide (MDP) in schizophrenia. Subsequently, we performed single-cell RNA sequencing on unstimulated and stimulated PBMCs from patients and controls and revealed widespread suppression of antiviral and inflammatory programs as well as impaired chemokine/cytokine-receptor interaction networks in various immune cell subpopulations of schizophrenic patients after MDP stimulation. Moreover, serum MDP levels were elevated in these patients and correlated with the course of the disease, suggesting increased bacterial translocation along with disease progression. In vitro assays revealed that MDP pretreatment altered the functional response of normal PBMCs to its re-stimulation, which partially recapitulated the impaired immune function in schizophrenia. In conclusion, we delineated the molecular and cellular landscape of impaired immune function in schizophrenia, and proposed a mutual interplay between innate immune impairment, reduced pathogen clearance, increased MDP translocation along schizophrenia development, and blunted innate immune response. These findings provide new insights into the pathogenic mechanisms that drive systemic immune activation, neuroinflammation, and brain abnormalities in schizophrenia.

Factors influencing the quality of preconception healthcare in China: applying a preconceptional instrument to assess healthcare needs.

BACKGROUND: Preconception care is defined as the promotion of the health and well-being of a woman and her partner before pregnancy. Improving preconception health can result in improved reproductive health outcomes. China has issued latest version official guideline for preconception care in 2011. The objective of this cross-sectional study is to determine whether there is a variation in the quality of preconception healthcare services in distinct eastern and northern populations of China, and what factors are associated with such variation. METHODS: A cross-sectional survey using our previously developed preconception instrument was conducted. Women at reproductive age planning for pregnancy were surveyed along with their partners at hospitals during their pre-pregnancy health examination. Data collected include general health/life profiles, pregnancy history, alcohol/tobacco/drug exposures, immunizations, micronutrient supplements and the demands in preconception care. After quality assessment, statistical analysis were applied to evaluate the variations in preconception factors between people from Hebei and Jiangsu Provinces. RESULTS: 3202 women of reproductive age in from eastern province, Jiangsu, and in a northern province, Hebei, participated this study. 2806 of them and their partners have completed the questionnaire, at a rate of 87.6%, 1011 were from Jiangsu and 1795 were from Hebei. Statistical significance was obtained for maternal age (P < 0.001), body mass index (u =13.590, P <0.001), education (χ2 = 916.33, P < 0.001), occupation (χ2 = 901.78, P < 0.001), health status/common disease, immunization status, and need for preconception care. CONCLUSIONS: For a country as large as China, the centralized guideline for standardized preconception healthcare does have a very crucial positive role in reproductive healthcare, but it may not be suited for all populations. Regional authorities should consider the demographics and healthcare needs of the local population and modify the centralized guideline accordingly, as well as provide a better education and professional services for the public, to improve the quality of preconception services at both the regional and the national level.

Factors associated with the age of natural menopause and menopausal symptoms in Chinese women.

OBJECTIVE: To investigate the factors associated with the age of natural menopause and menopausal symptoms in a large population of Chinese middle-aged women. STUDY DESIGN: In this cross-sectional study, a total of 20,275 women (40-65 years) attending health screening in Jiangsu Province of China were enrolled. A structured questionnaire was used to collect data of demographics, menopausal status, chronic diseases, reproductive history, etc. Also we evaluated the severity of menopausal symptoms by Kupperman menopause index (KMI). MAIN OUTCOME MEASURE: Menopausal age and scorings of Kupperman menopause index. RESULTS: The overall median age at natural menopause was 50 years. Lower educational level, poor economic status, lower body mass index (BMI), age at menarche less than 14 years, nulliparity and smoking were associated with earlier onset of natural menopause (P<0.05). The most frequently symptoms in postmenopausal women were sexual problems (57.05%), muscle/joint pain (53.29%) and insomnia (51.02%), while fatigue, insomnia and muscle/joint pain were predominant symptoms in pre- and peri-menopausal women. After adjusting for confounding factors, logistic regression analysis revealed that women with poor educational background, low income, divorce, higher BMI, higher parity, smoking and chronic diseases presented higher KMI scores (P<0.05). CONCLUSION: The study provided an estimate of median age at natural menopause in Chinese women. The main factors contributing to earlier onset of menopause and severity of menopausal symptoms were lower educational level, poor economic status, and smoking. Thus, this study provides important insights for physicians to prevent and treat menopause related symptoms.