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.

Radiomics in Carotid Plaque: A Systematic Review and Radiomics Quality Score Assessment.

Imaging modalities provide information on plaque morphology and vulnerability; however, they are operator dependent and miss a great deal of microscopic information. Recently, many radiomics models for carotid plaque that identify unstable plaques and predict cardiovascular outcomes have been proposed. This systematic review was aimed at assessing whether radiomics is a reliable and reproducible method for the clinical prediction of carotid plaque. A systematic search was conducted to identify studies published in PubMed and Cochrane library from January 1, 2001, to September 30, 2022. Both retrospective and prospective studies that developed and/or validated machine learning models based on radiomics data to classify or predict carotid plaques were included. The general characteristics of each included study were selected, and the methodological quality of radiomics reports and risk of bias were evaluated using the radiomics quality score (RQS) tool and Quality Assessment of Diagnostic Accuracy Studies-2, respectively. Two investigators independently reviewed each study, and the consensus data were used for analysis. A total of 2429 patients from 16 studies were included. The mean area under the curve of radiomics models for diagnostic or predictive performance of the included studies was 0.88 ± 0.02, with a range of 0.741-0.989. The mean RQS was 9.25 (standard deviation: 6.04), representing 25.7% of the possible maximum value of 36, whereas the lowest point was -2, and the highest score was 22. Radiomics models have revealed additional information on patients with carotid plaque, but with respect to methodological quality, radiomics reports are still in their infancy, and many hurdles need to be overcome.

Health risk assessment of lead via the ingestion pathway for preschool children in a typical heavy metal polluted area.

The problems of environmental lead (Pb) pollution caused by mining activities have attracted global attention. Preschool children are vulnerable to exposure to Pb from the environment. To investigate the health risk of multiple exposures to Pb via oral ingestion (soil, water, rice, wheat, and vegetables) for preschool children in typical polluted areas, in this study, preschool children in Baiyin city were selected as the potential receptors, Pb concentrations in 28 soil samples and 33 vegetable samples were collected and measured. In addition, the Pb concentrations in local water, rice, and wheat were obtained by searching the literature. The Monte Carlo simulation was used in the uncertainty and sensitivity analysis of the parameters. Results showed that Pb concentrations in spinach, tomato, cushaw, lettuce, broad bean, pea, eggplant, and radish exceeded the standards (GB 2762-2017), and 42.86% of soil samples exceeded screening values (GB 15618-2018). The non-carcinogenic risk was as high as 3.58. Vegetables and wheat were the major contributors in the oral ingestion pathway. Furthermore, the carcinogenic risk of preschool children was 6.02E-06, which was acceptable. Monte Carlo simulations showed that health risk assessment results were most likely to be influenced by Pb concentrations in the media. In conclusion, the food safety of vegetables in soil-polluted areas deserves more attention, and certain measures should be taken to reduce the health risks to preschool children.

A novel surgical protocol for safe and accurate placement of C1 lateral mass screws in patients with atlas assimilation, basilar invagination and atlantoaxial instability: technical details, accuracy assessment and perioperative complications.

PURPOSE: To introduce a novel surgical protocol for safe and accurate placement of C1 lateral mass screws in patients with atlas assimilation, basilar invagination and atlantoaxial instability, and to categorize the screw accuracy and perioperative complications regarding this technique in a large case series. METHODS: Between January 2015 and January 2020, patients who had atlas assimilation, basilar invagination and atlantoaxial instability, and underwent atlantoaxial fixation using C1 lateral mass screws were reviewed. C1 lateral mass screws were placed with a novel surgical protocol following a series key steps, including posterior para-odontoid ligament release, panoramic exposure of the invaginated lateral mass, and diligent protection of the abnormal VA. Screw accuracy and related complications were specifically evaluated. RESULTS: A total of 434 C1 lateral mass screws were placed. Fifteen screws (3.5%) were classified as unacceptable, 54 screws (12.4%) were classified as acceptable, and 365 screws (84.1%) were classified as ideal. Overall, 96.5% of screws were deemed safe. There were no cases of vascular injury or permanent neurological defects. One patient with an unacceptable screw presented with hypoglossal nerve paralysis and recovered after an immediate revision surgery. Thirty-seven patients complained about occipital neuralgia and were successfully managed with medication. CONCLUSION: Placement of C1 lateral mass screws in patients with atlas assimilation, basilar invagination and atlantoaxial instability following this surgical protocol is safe and accurate. Thorough para-odontoid ligamental release, wide exposure of the invaginated lateral mass, and diligent protection of the vertebral artery are critical to maximize the chances of successful screw placement.

Comparison of neoadjuvant treatments followed by radical surgery or chemoradiation on quality of life in patients with stage IB2-IIA cervical cancer.

OBJECTIVE: To compare quality of life (Qol) of patients with stage IB2-IIA cervical cancer treated by neoadjuvant treatments followed by radical surgery (NTS) or standard chemoradiation (CRT). METHODS: Patients with stage IB2-IIA cervical cancer during 2006-2012 were treated with NTS or CRT and were invited to participate. The Functional Assessment of Cancer Therapy-Cervix (FACT-Cx) Questionnaire was used to assess patient Qol. A multivariable linear regression analysis was performed to identify factors associated with Qol. RESULTS: In total, 90 (78.3%) out of 115 eligible patients completed the questionnaires. No significant differences were found in Qol between treatment groups, except that patients after NTS reported higher scores in the social/family well-being (e.g. satisfaction with sexual life, close relationships with partner or friends, and support from friends) than those after CRT, in particular, during 2-3 years after treatment. Results of multivariate analysis indicated that NTS was associated with better social/family functioning, while advanced stage of cervical cancer, lower family income and lower education were associated with impaired Qol in different domains. CONCLUSIONS: Although self-reported Qol after treatment were not significantly different, NTS treated patients reported better social/family functioning than CRT treated patients, such as satisfaction with their sexual life and close relationships with partner or friends, during 2-3 years post treatment. These results were helpful for physicians to make treatment decisions while considering treatment-related Qol, and moreover, for rehabilitation and supportive care of patients after treatment. Further validation of our findings in randomized, controlled clinical trials is warranted.

Using Bayesian spatio-temporal model to determine the socio-economic and meteorological factors influencing ambient PM2.5 levels in 109 Chinese cities.

OBJECTIVE: Ambient particulate pollution, especially PM2.5, has adverse impacts on health and welfare. To manage and control PM2.5 pollution, it is of great importance to determine the factors that affect PM2.5 levels. Previous studies commonly focused on a single or several cities. This study aims to analyze the impacts of meteorological and socio-economic factors on daily concentrations of PM2.5 in 109 Chinese cities from January 1, 2015 to December 31, 2015. METHODS: To evaluate potential risk factors associated with the spatial and temporal variations in PM2.5 levels, we developed a Bayesian spatio-temporal model in which the potential temporal autocorrelation and spatial autocorrelation of PM2.5 levels were taken into account to ensure the independence of the error term of the model and hence the robustness of the estimated parameters. RESULTS: Daily concentrations of PM2.5 peaked in winter and troughed in summer. The annual average concentration reached its highest value (79 µg/m3) in the Beijing-Tianjin-Hebei area. The city-level PM2.5 was positively associated with the proportion of the secondary industry, the total consumption of liquefied petroleum gas and the total emissions of industrial sulfur dioxide (SO2), but negatively associated with the proportion of the primary industry. A reverse U-shaped relationship between population density and PM2.5 was found. The city-level and daily-level of weather conditions within a city were both associated with PM2.5. CONCLUSION: PM2.5 levels had significant spatio-temporal variations which were associated with socioeconomic and meteorological factors. Particularly, economic structure was a determinant factor of PM2.5 pollution rather than per capita GDP. This finding will be helpful for the intervention planning of particulate pollution control when considering the environmental and social-economic factors as part of the strategies.

Prevalence and Occupational and Environmental Risk Factors of Self-Reported Asthma: Evidence from a Cross-Sectional Survey in Seven Chinese Cities.

OBJECTIVE: Asthma is one of the most common chronic diseases and associated with significant morbidity and mortality. However, few data on occupational and environmental risk factors of asthma are available, particularly in Asian adults. Based on a national cross-sectional survey, we assessed the prevalence and risk factors of asthma in Chinese adults. METHODS: A total of 9974 participants aged 15 years and over in seven Chinese cities were selected using a stratified four-stage random sampling. All participants were interviewed face-to-face in their homes using a standardized self-administered questionnaire. Multivariate logistic regression analyses were adopted to determine various risk factors for asthma. RESULTS: The prevalence of self-reported lifetime asthma was 2.46% among the entire adult population, 3.02% among males and 1.93% among females. The prevalence varied by age group, ethnicity, marital status, education, and floor space per person (p < 0.05). After adjusting for socio-demographic variables and smoking, we found independent occupational and environmental determinants of asthma, including a clearance-related job (OR = 2.28, 95%CI: 1.07-4.89), occupational exposure to industrial or occupational poisonous gas (OR = 4.21, 95%CI: 2.43-7.30), having large amounts of carpet in the workplace (OR = 2.61, 95%CI: 1.20-5.69) and using coal for cooking (OR = 2.65, 95%CI: 1.26-5.57). CONCLUSIONS: Asthma is a serious public health problem in China. Our study provides important updated information on the prevalence of asthma and its associated risk factors, which may help us better understand the epidemiology of asthma and prevent this disorder.