Association of stage 1 hypertension defined by the 2017 ACC/AHA guideline with cardiovascular events and mortality in Chinese adults / 中华医学杂志(英文版)

BACKGROUND@#The 2017 American College of Cardiology/American Heart Association (ACC/AHA) blood pressure (BP) guideline lowered the threshold defining hypertension to 130/80 mmHg. However, how stage 1 hypertension defined using this guideline is associated with cardiovascular events in Chinese adults remains unclear. This study assessed the association between stage 1 hypertension defined by the 2017 ACC/AHA guideline and clinical outcomes in the Chinese population.@*METHODS@#Participants with stage 1 hypertension ( n = 69,509) or normal BP ( n = 34,142) were followed in this study from 2006/2007 to 2020. Stage 1 hypertension was defined as a systolic blood pressure of 130-139 mmHg or a diastolic blood pressure of 80-89 mmHg. None were taking antihypertensive medication or had a history of myocardial infarction (MI), stroke, or cancer at baseline. The primary outcome was a composite of MI, stroke, and all-cause mortality. The secondary outcomes were individual components of the primary outcome. Cox proportional hazards models were used for the analysis.@*RESULTS@#During a median follow-up of 11.09 years, we observed 10,479 events (MI, n = 995; stroke, n = 3408; all-cause mortality, n = 7094). After multivariable adjustment, the hazard ratios for stage 1 hypertension vs. normal BP were 1.20 (95% confidence interval [CI], 1.13-1.25) for primary outcome, 1.24 (95% CI, 1.05-1.46) for MI, 1.45 (95% CI, 1.33-1.59) for stroke, and 1.11 (95% CI, 1.04-1.17) for all-cause mortality. The hazard ratios for participants with stage 1 hypertension who were prescribed antihypertensive medications compared with those without antihypertensive treatment during the follow-up was 0.90 (95% CI, 0.85-0.96).@*CONCLUSIONS@#Using the new definition, Chinese adults with untreated stage 1 hypertension are at higher risk for MI, stroke, and all-cause mortality. This finding may help to validate the new BP classification system in China.

Secular trends of asthma mortality in China and the United States from 1990 to 2019 / 中华医学杂志(英文版)

BACKGROUND@#Asthma imposes a large healthcare burden in China and the United States (US). However, the trends of asthma mortality and the relative risk factors have not been comparatively analyzed between the countries. The aim of this study was to compare the mortality and risk factors between China and the US.@*METHODS@#The deaths, and mortality rates of asthma in China and the US during 1990-2019 were obtained from the Global Burden of Disease Study 2019. The age-period-cohort model was used to estimate these mortality rates based on a log-linear scale with additive age, period, and cohort effects. The population attributable fractions of risk factors for asthma were estimated.@*RESULTS@#In 1990-2019, the asthma mortality rate was higher in China than in the US. The crude and age-standardized asthma mortality rates trended downward in both China and the US from 1990 to 2019. The decline in mortality was more obvious in China. Mortality gap between the two countries was narrowing. A sex difference in asthma mortality was observed with higher mortality in males in China and females in the US. The age effects showed that mortality increased with age in adults older than 20 years, particularly in the elderly. Downward trends were generally observed in the period and cohort rate ratios in both countries, with China experiencing a more obvious decrease. Smoking and high body mass index (BMI) were the leading risk factors for asthma mortality in China and the US, respectively. Mortality attributable to occupational asthmagens and smoking decreased the most in China and the US, respectively.@*CONCLUSIONS@#In 1990-2019, the asthma mortality rate was higher in China than in the US; however, the mortality gap has narrowed. Mortality increased with age in adults. The improvements in asthma death risk with period and birth cohort were more obvious in China than in the US. Smoking, high BMI, and aging are major health problems associated with asthma control. The role of occupational asthmagens in asthma mortality underscores the importance of management and prevention of occupational asthma.

Interpretation of 2023 American Heart Association and American Academy of Pediatrics focused update on neonatal resuscitation guidelines / 中国当代儿科杂志

In November 2023, the American Heart Association and the American Academy of Pediatrics jointly released key updates to the neonatal resuscitation guidelines based on new clinical evidence. This update serves as an important supplement to the "Neonatal resuscitation: 2020 American Heart Association guidelines for cardiopulmonary resuscitation and emergency cardiovascular care". The aim of this paper is to outline the key updates and provide guidance on umbilical cord management and the selection of positive pressure ventilation equipment and its additional interfaces in neonatal resuscitation.

Progress in the treatment of soft tissue sarcoma in the 2023 annual meeting of the American Society of Clinical Oncology / 中华肿瘤杂志

Soft tissue sarcoma (STS) is a group of rare malignant tumors originating from mesenchymal tissue, with a high degree of malignancy and a wide range of pathological subtypes. The prognosis varies among different subtypes, and treatment increasingly relies on selecting appropriate treatment methods for different subtypes. Surgical treatment is still the main treatment method at present, and the development of immune and targeted therapy also brings new hope for the treatment of soft tissue sarcoma. Immune checkpoint inhibitors, oncolytic viruses and T cell therapy have shown well safety and efficacy in clinical trials. Targeted drugs such as trabectedin and lenvatinib have changed the treatment pattern of soft tissue sarcoma. Currently, chemotherapy based on doxorubicin and ifosfamide is still the first line treatment for patients with advanced soft tissue sarcoma who have distant metastasis. However, the adverse reactions of doxorubicin limit its application in elderly patients, and trofosfamide has shown good efficacy and safety as an alternative in clinical trials. The efficacy of postoperative radiotherapy has been confirmed, which can reduce the local recurrence rate after surgical resection of soft tissue sarcoma. In summary, multimodal comprehensive treatment has become the main strategy for the treatment of soft tissue sarcoma. The combination of different treatment methods can generate synergistic effects and help patients obtain more clinical benefits, such as the combination of doxorubicin and immune checkpoint inhibitors, and the combination of antiangiogenic drugs and chemotherapy drugs. At the 2023 annual meeting of the American Society of Clinical Oncology (ASCO), oncologists from all over the world reported many researches related to the treatment of soft tissue sarcoma. This article aims to review the new progress in the treatment of soft tissue sarcoma in the 2023 annual meeting of ASCO.

Progress in the treatment of soft tissue sarcoma in the 2023 annual meeting of the American Society of Clinical Oncology / 中华肿瘤杂志

Soft tissue sarcoma (STS) is a group of rare malignant tumors originating from mesenchymal tissue, with a high degree of malignancy and a wide range of pathological subtypes. The prognosis varies among different subtypes, and treatment increasingly relies on selecting appropriate treatment methods for different subtypes. Surgical treatment is still the main treatment method at present, and the development of immune and targeted therapy also brings new hope for the treatment of soft tissue sarcoma. Immune checkpoint inhibitors, oncolytic viruses and T cell therapy have shown well safety and efficacy in clinical trials. Targeted drugs such as trabectedin and lenvatinib have changed the treatment pattern of soft tissue sarcoma. Currently, chemotherapy based on doxorubicin and ifosfamide is still the first line treatment for patients with advanced soft tissue sarcoma who have distant metastasis. However, the adverse reactions of doxorubicin limit its application in elderly patients, and trofosfamide has shown good efficacy and safety as an alternative in clinical trials. The efficacy of postoperative radiotherapy has been confirmed, which can reduce the local recurrence rate after surgical resection of soft tissue sarcoma. In summary, multimodal comprehensive treatment has become the main strategy for the treatment of soft tissue sarcoma. The combination of different treatment methods can generate synergistic effects and help patients obtain more clinical benefits, such as the combination of doxorubicin and immune checkpoint inhibitors, and the combination of antiangiogenic drugs and chemotherapy drugs. At the 2023 annual meeting of the American Society of Clinical Oncology (ASCO), oncologists from all over the world reported many researches related to the treatment of soft tissue sarcoma. This article aims to review the new progress in the treatment of soft tissue sarcoma in the 2023 annual meeting of ASCO.

Migração e mortalidade por câncer entre os migrantes colombianos nos EUA: um estudo com dados de declaração de óbito / Migration and cancer mortality among Colombian migrants in the USA: a death certification study

Resumo Este estudo teve como objetivo comparar padrões de mortalidade por câncer entre os imigrantes colombianos nos EUA e colombianos em sua terra natal. Dados de 2008 a 2012 foram coletados, e foram calculadas taxas de mortalidade por câncer de colombianos residindo em seu país natal e colombianos residindo em Califórnia, Flórida e Nova York, bem como taxas específicas de mortalidade por idade e sexo por cada 100.000 pessoas. Para comparar as duas populações, tanto antes como após a correção pela escolaridade, as razões de taxas de mortalidade (MRR) foram estimadas por modelo de regressão binomial negativa. Foi descoberto que colombianos em sua terra natal apresentam taxas de mortalidade por câncer mais altas quando comparados aos que residem nos EUA (MRR masculino 1,4 (IC 95%: 1,2-1,5), MRR feminino 1,5 (IC 95%: 1,3-1,7)). Essas diferenças persistem para a maioria dos tipos de câncer, mesmo após correção pela escolaridade. Os colombianos em sua terra natal apresentaram taxa de mortalidade por câncer gástrico (MRR masculino 2,6; feminino 2,8) e cervical (MRR 5,0) significativamente mais alta em comparação com os que residem nos EUA. As desigualdades educacionais na mortalidade por câncer foram mais acentuadas para aqueles que moram em sua terra natal. A menor taxa de mortalidade por câncer observada entre os colombianos nos EUA, porém, não pode ser atribuída às diferenças de escolaridade, um indicador de status socioeconômico. Em vez disso, provavelmente ocorre devido à maior acessibilidade aos serviços de saúde preventivos e curativos nos EUA.

Abstract We aim to compare cancer mortality rates of USA Colombian migrants (USA Colombians) to Colombians in their country of origin (CO Colombians). Using Colombian national mortality data and data on cancer deaths among Colombians residing in the states of California, Florida, and New York (USA Colombians) for the period 2008-2012, we estimated sex-specific and age-standardized mortality rates (ASMR), expressed per 100,000 persons. For comparisons between the two populations before and after adjustment for educational level, negative binomial regression models were used to compute Mortality Rate Ratios (MRR). CO Colombians had higher cancer mortality rates compared with USA Colombians (male MRR 1.4 [95%CI: 1.2-1.5], female MRR 1.5 [95%CI: 1.3-1.7]). These differences persisted for most cancers even after adjustment for education. CO Colombians had significantly higher mortality from gastric (MRR 2.6 in males and 2.8 in females) and cervical cancer (MRR 5.0) compared with US Colombians. Educational inequalities in cancer mortality were more pronounced among CO Colombians than among USA Colombians. Lower cancer mortality observed among USA Colombians cannot be attributed to differences in education, an indicator of socio-economic status. Rather, it is likely due to better access to preventive and curative healthcare in the USA.

Identification and economic burden of main adverse events of nerve injuries caused by regional anesthesia: a systematic review

Abstract Background and objectives: Anesthesiologists and hospitals are increasingly confronted with costs associated with the complications of Peripheral Nerve Blocks (PNB) procedures. The objective of our study was to identify the incidence of the main adverse events associated with regional anesthesia, particularly during anesthetic PNB, and to evaluate the associated healthcare and social costs. Methods: According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted a systematic search on EMBASE and PubMed with the following search strategy: (‟regional anesthesia" OR ‟nerve block") AND (‟complications" OR ‟nerve lesion" OR ‟nerve damage" OR ‟nerve injury"). Studies on patients undergoing a regional anesthesia procedure other than spinal or epidural were included. Targeted data of the selected studies were extracted and further analyzed. Results: Literature search revealed 487 articles, 21 of which met the criteria to be included in our analysis. Ten of them were included in the qualitative and 11 articles in the quantitative synthesis. The analysis of costs included data from four studies and 2,034 claims over 51,242 cases. The median claim consisted in 39,524 dollars in the United States and 22,750 pounds in the United Kingdom. The analysis of incidence included data from seven studies involving 424,169 patients with an overall estimated incidence of 137/10,000. Conclusion: Despite limitations, we proposed a simple model of cost calculation. We found that, despite the relatively low incidence of adverse events following PNB, their associated costs were relevant and should be carefully considered by healthcare managers and decision makers.

Observaciones sobre trastornos temporomandibulares: prioridades de investigación y atención: ¿cómo avanzará Chile? / Remarks on "temporomandibular disorders: priorities for research and care": how will Chile advance?

Los trastornos temporomandibulares son complejos trastornos multisistémicos para los que, lamentablemente, siguen prevaleciendo los enfoques tradicionales odontocéntricos comunes de la investigación y la atención. Un comité designado por las Academias Nacionales de Ciencias, Ingeniería y Medicina de los Estados Unidos de América resumió importantes recomendaciones relativas a la urgente necesidad de transformar, desde el modelo predominantemente biomédico, la investigación, la educación/formación profesional y la atención al paciente para los trastornos temporomandibulares en el modelo biopsicosocial que es estándar en el resto de la medicina del dolor. La publicación del informe del estudio de consenso identifica once recomendaciones de corto y largo plazo respecto a brechas y oportunidades orientadas a la situación en Estados Unidos, que son igualmente aplicables a la situación en Chile. Las primeras cuatro recomendaciones se centran en la investigación básica y traslacional, la investigación en salud pública y el fortalecimiento de la investigación clínica. Las tres recomendaciones siguientes se refieren a la evaluación de riesgos, el diagnóstico y la difusión de guías de práctica clínica y métricas asistenciales para mejorar la atención de los pacientes y ampliar su acceso. Las recomendaciones octavas a décima proponen centros de excelencia para el tratamiento de los trastornos temporomandibulares y el dolor orofacial, la mejora de la formación en los centros profesionales y la ampliación de la formación continua especializada para los profesionales sanitarios. La undécima recomendación se centra en la educación de los pacientes y la reducción del estigma. Este artículo destaca las recomendaciones publicadas y aborda lo que debiesen considerar los profesionales chilenos, como primer paso hacia un gran esfuerzo por cambiar los paradigmas de investigación, tratamiento y educación sobre los trastornos temporomandibulares para los próximos años.

Temporomandibular disorders (TMDs) are complex multi-system disorders for which common traditional dental-centric approaches to research and care unfortunately continue to prevail. A committee appointed by the National Academies of Sciences, Engineering and Medicine (NAM) of the United States of America summarized important recommendations regarding the urgent need to transform, from the predominantly biomedical model, the research, professional education/training, and patient care for TMDs into the biopsychosocial model that is standard in the rest of pain medicine. The release of the Consensus Study Report identifies eleven short-term and long-term recommendations regarding gaps and opportunities oriented towards the situation in the US, which are equally applicable to the situation in Chile. The first four recommendations focus on basic and translational research, public health research and strengthening clinical research. The next three recommendations concern risk assessment, diagnostics, and dissemination of clinical practice guidelines and care metrics to improve patient care and expand its access. Recommendations eight to ten propose Centers of Excellence for Temporomandibular Disorders and Orofacial Pain Treatment, improving professional school education, and expanding specialized continuing education for healthcare providers. The eleventh recommendation focuses on patient education and stigma reduction. This article highlights the published recommendations and addresses what should be considered by Chilean professionals, as a first step of a major effort to shift TMD research, treatment, and education paradigms for the years to come.

Potential short-term effects of tobacco control scheme under various application scenarios of tobacco control measures across the globe: a Meta-analysis / 中华流行病学杂志

Objective: based on summarizing the simulation and prediction of tobacco control measures across the globe and sorting out the various scenarios of tobacco control measures, the potential short-term effects of seven tobacco control measures in different scenarios were systematically analyzed. Methods: Until April 2022, PubMed, Embase, EconLit, PsychINFO, and CINAHL databases were used to retrieve literature about tobacco control measures simulation and prediction models across the globe. Inclusion and exclusion criteria were strictly followed. Meta-analysis for the potential short-term effects of seven tobacco control measures in different scenarios was performed using the R software. Results: A total of 22 papers covering 16 countries were selected. Five studies were conducted in the United States, three in Mexico, and two in Italy. There were all papers with the measures to tax increases, smoke-free air laws, and mass media campaigns, 21 papers with youth access restrictions, 20 with marketing restrictions, and 19 with cessation treatment programs and health warnings. The tax increases had diverse influences on the price elasticity of different age groups. The price elasticity in the age group 15-17 years was the highest, which was 0.044 (95%CI: 0.038-0.051). The potential short-term effects of smoke-free air laws in workplaces were higher than in restaurants and other indoor public places. The effects of youth access restrictions were greater in the age group <16 years than in the age group 16-17. The stronger the implementation of other measures, the greater the potential short-term effects. A comparison of seven tobacco control measures showed that the cessation treatment programs increase in cessation rate was the highest, 0.404 (95%CI: 0.357-0.456). The reduction in smoking rate and reduction in initiation rate of youth access restrictions strongly enforced and publicized was the highest in the age group <16 years, 0.292 (95%CI: 0.269-0.315), and 0.292 (95%CI: 0.270-0.316). Conclusions: The potential short-term effects of seven tobacco control measures in different scenarios were evaluated more accurately and objectively through Meta-analysis. In the short term, cessation treatment programs will substantially increase smoking cessation rates, and strong youth access enforcement will sharply reduce smoking and initiation rates among adolescents under 16. These results also offer strong data-related support for the simulation and prediction of tobacco control measures in China and other countries.

The role of the high-level public health school in the development of the Center for Disease Control and Prevention / 中华流行病学杂志

The Ministry of Education and other four departments jointly issued the Notice on the Construction of high-level schools of public Health, proposing that "it will take ten years to build a number of high-level schools of public health, and form a high-quality education development system to adapt to the construction of modern public health system". At present, the construction of high-level public health schools in various universities in China is in full swing. The high-level School of Public Health and the CDC have played an important role in constructing the national public health system and the human health community. The high-level public health schools are of strategic significance and important value to the development of the CDC. The review presents reflections and insights on the role of high-level public health schools in the development of the CDC and the challenges they might face.

Analysis of healthy life expectancy and related socioeconomic influencing factors among the middle-aged and elderly in China, the United States, and the European Union / 中华流行病学杂志

Objective: To calculate and compare the healthy life expectancy (HLE) of the middle-aged and elderly in China, the United States, and developing and developed countries in the European Union(EU) and analyze the impact of socioeconomic factors on HLE in different countries or regions. Methods: Four surveys from 2010 to 2019 were brought into the research. The data were collected from the China Health and Retirement Longitudinal Study, Health and Retirement Study, and the Survey of Health, Ageing and Retirement in Europe. Developed and developing countries in the EU were divided into two groups for calculation. Education level, total family wealth, and work retirement status were selected to measure socioeconomic status, and activities of daily living were used as health status indicators. We used the multi-state life cycle table method to calculate the transition probability between different health states and estimate life expectancy and HLE. Results: A total of 69 544 samples were included in the study. In terms of age, the middle-aged and elderly in the United States and developed countries of the EU have higher HLE in all age groups. In terms of gender, only Chinese women have lower HLE than men. Regarding socioeconomic factors, the middle-aged and elderly with higher education levels and total family wealth level have higher HLE. In China, working seniors have higher HLE, while for USA women and developed countries of the EU, retired or unemployed seniors have higher HLE. Conclusions: Demographic and socioeconomic factors impact HLE in different countries or regions. China should pay more attention to the health of women and the middle-aged and elderly retired with lower education and less total family wealth.

Cardiovascular health status of Chinese adults based on "Life's Essential 8" score / 中华流行病学杂志

Objective: To assess the cardiovascular health status of adults in China by using the "Life's Essential 8" score, and provide reference for the development and improvement of cardiovascular disease prevention and control policies and measures. Methods: Chronic Disease and Nutrition Surveillance was conducted in 298 counties/districts in 2015 in 31 provinces (autonomous regions, municipalities) across China, multi-stage stratified cluster random sampling was used to select 45 households in each village or neighborhood, and 20 households were further selected to conduct dietary surveys. In this study, a total of 70 093 adults aged ≥20 years who completed the dietary survey and had complete information were included, their cardiovascular health status were assessed by using the "Life's Essential 8" score, a cardiovascular health scoring standard released by the American Heart Association in 2022. All results were adjusted using complex design-based sampling weights to achieve a better estimate of the population. Results: In 2015, the overall cardiovascular health score of Chinese adults aged ≥20 years was 73.3±12.6, the score was significantly higher in women (77.9±11.6) than in men (68.7±11.8), and higher in urban area (74.5±12.8) than in rural area (71.9±12.2), the differences were significant (P<0.001). It was estimated that about 0.25% (95%CI: 0.16%-0.33%) of adults in China had cardiovascular health score of 100, and 33.0% (95%CI: 31.6%-34.3%), 63.2% (95%CI: 62.1%-64.3%), and 3.9% (95%CI: 3.5%-4.2%) of adults had high, moderate and low cardiovascular health scores, respectively. The proportion of those with high cardiovascular health scores was relatively low in men, those with low education level, those with low income, those living in rural areas, and those living in southwest China (P<0.001). Of the eight factors, diet had the lowest mean score (46.0, 95%CI: 44.7-47.3), followed by blood pressure (59.4, 95%CI: 58.2-60.6) and tobacco exposure (61.4, 95%CI: 60.6-62.2). Conclusions: The cardiovascular health status of two-thirds of adult population in China needs to be improved. Diet, tobacco exposure, and blood pressure are the factors affecting the cardiovascular health of Chinese population, to which close attention needs to be paid, and men, rural residents, and those with lower socioeconomic status are key groups in cardiovascular health promotion.

National Institutes of Health Stroke Scale: comparison of original and modified versions for Singapore culture

INTRODUCTION@#The National Institutes of Health Stroke Scale (NIHSS), originally designed in the United States of America, contains items on dysphasia and dysarthria that are deemed culturally unsuitable for the Singapore context. We compared the error rates of dysphasia objects, dysphasia phrases and dysarthria words between the original and alternative items in a cohort of Singaporean subjects without dysphasia or dysarthria.@*METHODS@#In this prospective study, 140 English-speaking Singaporean subjects without impairments of dysphasia or dysarthria had an assessment of NIHSS items 9 and 10 using the original and alternative items. Paired analyses were conducted for comparison of error rates.@*RESULTS@#The error rates were high for four original dysphasia objects (Hammock: 62.9%, Cactus: 38.6%, Feather: 23.6%, Glove: 20.7%) and significantly lower for alternative items (Snail: 5%, Horse: 1.4%, Hanger: 1.4%, Car: 0%) (P < 0.001). For dysphasia phrases and dysarthria words, the error rates were low and there were no differences in error rates between the original and alternative items.@*CONCLUSION@#There are cultural issues with several dysphasia objects in the original NIHSS as evidenced by the high error rates, which were lowered with more culturally suitable alternatives. This study formed a basis to derive a more suitable version of the NIHSS for English-speaking subjects in Singapore.

Targeted therapeutic strategies for melanoma / 中华医学杂志(英文版)

Melanoma accounts for a small proportion of skin cancers diagnosed each year, but it has a high degree of malignancy and rapid progression, resulting in a short survival period for patients. The incidence of melanoma continues to rise, and now melanoma accounts for 1.7% of cancer diagnoses worldwide and is the fifth most common cancer in the United States. With the development of high-throughput sequencing technologies, the understanding of the pathophysiology of melanoma had also been improved. The most common activating mutations in melanoma cells are BRAF , NRAS , and KIT mutations, which disrupt cell signaling pathways related to tumor proliferation. The progress has led to the emergence of molecularly targeted drugs, which extends the survival of patients with advanced melanoma. A large number of clinical trials have been conducted to confirm that targeted therapy for patients with advanced melanoma can improve progression-free survival and overall survival, and for stage III patients after radical tumor resection targeted therapy can reduce the recurrence of melanoma. Patients who were originally stage III or IV inoperable have the opportunity to achieve tumor radical resection after targeted therapy. This article reviewed the clinical trial data and summarized the clinical benefits and limitations of these therapies.

mRNA vaccines for infectious diseases: research progress and applications / 生物工程学报

Messenger RNA (mRNA) vaccines emerge as promising vaccines to prevent infectious diseases. Compared with traditional vaccines, mRNA vaccines present numerous advantages, such as high potency, safe administration, rapid production potentials, and cost-effective manufacturing. In 2020, two COVID-19 vaccines (BNT162b2 and mRNA-1273) were approved by the Food and Drug Administration (FDA). The two vaccines showed high efficiency in combating COVID-19, which indicates the great advantages of mRNA technology in developing vaccines against emergent infectious diseases. Here, we summarize the type, immune mechanisms, modification methods of mRNA vaccines, and their applications in preventing infectious diseases. Current challenges and future perspectives in developing mRNA vaccines are also discussed.

Diagnostic Value of American Thyroid Association Guidelines,American College of Radiology Thyroid Imaging Reporting and Data System,and Chinese Thyroid Imaging Reporting and Data System Alone and Combined With BRAFV600E Mutation in Atypia of Undetermined Significance/Follicular Lesion of Undetermined Significance / 中国医学科学院学报

Objective To explore the diagnostic efficacy of American Thyroid Association(ATA)guidelines,American College of Radiology Thyroid Imaging Report and Data System(ACR-TIRADS),and Chinese Thyroid Imaging Reporting and Data System(C-TIRADS)alone and combined with BRAFV600E mutation in atypia of undetermined significance/follicular lesion of undetermined significance(AUS/FLUS).Methods A total of 138 patients who underwent ultrasound-guided fine needle aspiration(FNA)in the Chinese PLA General Hospital from January 2020 to May 2023 were selected.The clinicopathological and ultrasound characteristics were retrospectively analyzed for each nodule.Each nodule underwent preoperative BRAFV600E mutation testing and was diagnosed according to the ATA guidelines,ACR-TIRADS,and C-TIRADS.The diagnostic efficacy of ATA guidelines,ACR-TIRADS,and C-TIRADS alone and combined with BRAFV600E mutation was assessed based on the results of histopathological diagnosis.Results The 138 AUS/FLUS thyroid nodules included 45(32.6%)benign ones and 93(67.4%)malignant ones.The patient age(t=1.444,P=0.151),gender(χ2=0.259,P=0.611),and location of nodules(χ2=2.055,P=0.358)had no statistical significance for the differentiation between benign and malignant nodules,while nodule size(Z=2.500,P=0.012),echo(χ2=14.693,P<0.001),composition(χ2=17.075,P<0.001),aspect ratio ≥1(χ2=9.477,P=0.002),and microcalcification(χ2=6.892,P=0.009)were of significance for the differentiation.When applied alone,BRAFV600E mutation showed high specificity(95.56%)and positive predictive value(95.65%).Among the three ultrasound grading systems,ACR-TIRADS had the highest sensitivity(χ2=37.923,P<0.001;χ2=40.462,P<0.001)and accuracy(χ2=81.595,P<0.001;χ2=76.912,P<0.001),while C-TIRADS had the highest specificity(χ2=11.746,P<0.001;χ2=21.235,P<0.001).However,the three systems showed no statistically significant difference in the diagnostic efficiency when applied alone(Z=1.177,P=0.239;Z=0.213,P=0.831;Z=1.016,P=0.310).The combination of BRAFV600E mutation with ACR-TIRADS or C-TIRADS improved the diagnostic efficacy of BRAFV600E mutation in distinguishing the benign and malignant AUS/FLUS nodules(Z=2.107,P=0.035;Z=2.752,P=0.006).The combination of ATA guidelines with BRAFV600E mutation increased the diagnostic accuracy of BRAFV600E mutation(χ2=20.679,P<0.001),while it had no statistically significant difference in distinguishing the benign and malignant AUS/FLUS nodules(Z=1.321,P=0.186).The combination of ATA guidelines,ACR-TIRADS,or C-TIRADS with BRAFV600E mutation improved the diagnostic efficacy of ultrasound grading systems for AUS/FLUS nodules(Z=2.770,P=0.006;Z=2.770,P=0.006;Z=2.890,P=0.004).Specifically,ACR-TIRADS combined with BRAFV600E mutation showed the highest sensitivity(χ2=4.712,P=0.030;χ2=4.712,P=0.030),while C-TIRADS combined with BRAFV600E mutation showed the highest accuracy(χ2=77.627,P<0.001;χ2=85.827,P<0.001).However,there were no statistically significant differences in diagnostic performance between the combinations(Z=1.276,P=0.202;Z=0.808,P=0.419;Z=1.615,P=0.106).Conclusion ATA guidelines,ACR-TIRADS,and C-TIRADS combined with BRAFV600E mutation can improve the diagnostic efficacy of BRAFV600E mutation or ultrasound grading system alone in AUS/FLUS nodules,which can facilitate the further management and treatment of such patients.

A Dataset on the Dynamic Monitoring of Health and Family Planning of China's Internal Migrants: A Multi-Wave Large-Scale, National Cross-Sectional Survey from 2009 to 2018 / 中国医学科学杂志(英文版)

This data article presents data from the China Migrants Dynamic Survey (CMDS), a multi-wave, large-scale national cross-sectional survey of China's internal migrants from 2009 to 2018. The CMDS is an annual questionnaire survey conducted by the former National Health and Family Planning Commission (NHFPC) of the People's Republic of China. The respondents included in this survey are internal migrants over 15 years old. The sample was drawn from the China Migrant Population Information System, using multi-stage stratified sampling method and the probability proportional-to-size (PPS) cluster sampling strategy. Between 2009 and 2018, there were 1,527,650 internal migrants from 23 provinces, 5 autonomous regions and 4 municipalities participated in the surveys. The survey tools were a series of self-designed questionnaires with high inheritance and consistency designed and implemented by the NHFPC. The questionnaires mainly contain basic information of the respondents and their family members, migration status, healthcare or health behaviors, public health service utilization, social insurance, social integration, and family planning. The dataset is currently the most widely used survey data on China's internal migrants, offering information on migration patterns, healthcare and health behaviors, use of public health services, access to social security, social integration, and family planning, which are valuable for health planning, health decision-making, and health equity research.

Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of five children with Catecholaminergic polymorphic ventricular tachycardia (CPVT).@*METHODS@#Five children with clinical manifestations consistent with CPVT admitted to the Department of Cardiology of Children's Hospital Affiliated to Zhengzhou University from November 2019 to November 2021 were selected as the study subjects. Their clinical data were collected. Potential variants were detected by whole exome sequencing, and Sanger sequencing was used to verify the candidate variants. All patients were treated with β-blocker propranolol and followed up.@*RESULTS@#All patients had developed the disease during exercise and presented with syncope as the initial clinical manifestation. Electrocardiogram showed sinus bradycardia. The first onset age of the 5 patients were (10.4 ± 2.19) years, and the time of delayed diagnosis was (1.6 ± 2.19) years. All of the children were found to harbor de novo heterozygous missense variants of the RYR2 gene, including c.6916G>A (p.V2306I), c.527G>C (p.R176P), c.12271G>A (p.A4091T), c.506G>T (p.R169L) and c.6817G>A (p.G2273R). Among these, c.527G>C (p.R176P) and c.6817G>A (p.G2273R) were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.527G>C (p.R176P) was classified as a pathogenic variant (PS2+PM1+PM2_Supporting+PM5+PP3+PP4), and the c.6817G>A (p.G2273R) was classified as a likely pathogenic variant (PS2+PM2_Supporting+PP3+PP4). The symptoms of all children were significantly improved with the propranolol treatment, and none has developed syncope during the follow up.@*CONCLUSION@#Discovery of the c.527G>C (p.R176P) and c.6817G>A (p.G2273R) variants has expanded the mutational spectrum of the RYR2 gene. Genetic testing of CPVT patients can clarify the cause of the disease and provide a reference for their genetic counseling.