2020年 · 第100卷第24期

Gaucher disease (GD) is a rare autosomal recessive metabolic disease caused by deficient function of glucose cerebrosidase in lysosomes. Due to the mutation of glucocerebrosidase gene, the activity of glucocerebrosidase (also known as acid β-glucosidase, also known as acid β-glucosidase) in the body is lacking or reduced, resulting in its substrate glucocerebroside (also known as glucoceramide) stored in macrophages of the liver, spleen, kidney, bone, lung, and even brain, forming typical storage cells, namely "Gaucher cells", resulting in lesions in the affected tissues and organs, and the clinical manifestation is multiple organ involvement and progressive aggravation.

China is the world's largest tobacco consumer and has a large burden of chronic diseases related to smoking. To assess the prevalence of smoking in the Chinese population and its impact on chronic diseases, the researchers collected data from a series of cross-departmental NHS surveys conducted in China in 2003, 2008 and 2013. These surveys covered 31 provinces, autonomous regions and municipalities in China, using multi-level stratified cluster sampling, dividing mainland China into eastern, central and western regions, and then sampling counties in each region in urban and rural areas, enrolled all respondents aged 15 years or older in households. The results showed that 153 450 people were surveyed in 2003, 145 223 in 2008 and 229 676 in 2013, and the standardized smoking rate was 26.0% (95% CI 25.8% to 26.2%) in 2003, 24.9% (24.8% to 25.1%) in 2008 and 25.2% (25.1% to 25.4%) in 2013. The male smoking rate was 48.4% (48.1%-48.7%) in 2003, 47.0% (46.6%-47.4%) in 2008, and 47.2% (46.9%-47.5%) in 2013. Female smoking rates were 3.1% (3.0% to 3.2%) in 2003, 2.3% (2.2% to 2.5%) in 2008, and 2.7% (2.6% to 2.8%) in 2013. The standardized smoking rate among women under 40 increased from 1.0% in 2003 to 1.6% in 2013. In addition, the smoking rate among 15-to 24-year-olds increased from 8.3% in 2003 to 12.5% in 2013. Alcohol consumption was strongly associated with smoking in adolescents (OR=7.5，95%CI：6.9~8.1）。 The risk factor for smoking among adolescents was smoking by family elders (OR=1.9，95%CI: 1.8~1.9) and low educational level (OR=1.3，95%CI：1.2~1.4）。 Increased risk of chronic disease is associated with smoking (OR=1.1，95%CI: 1.0 to 1.1), and early smoking (OR=1.1，95%CI: 1.0 to 1.1) and long-term smoking (OR=1.2，95%CI：1.2~1.3）。 The results of this study indicate that since China signed the WHO Tobacco Control Framework in 2003, the intervention effect in reducing the smoking rate of the population is not obvious. The prevalence of smoking has increased substantially among both male and female adolescents and has steadily increased among young women. More practical and effective tobacco control policies for adolescents and women are urgently needed. As China's population increases further as it ages, action is needed to address the burden of chronic diseases associated with smoking.

After standardized treatment, some patients with acute pulmonary embolism can recover, and some patients still have decreased activity endurance, hemodynamic or imaging abnormalities, which is called post-pulmonary embolism syndrome. The thrombus of acute pulmonary embolism is not completely dissolved, and chronic organized thrombus blocking the pulmonary vascular bed may be an important mechanism of its occurrence. In order to clarify the incidence and possible mechanism of post-pulmonary embolism syndrome, the investigators followed up 845 consecutively diagnosed patients with acute pulmonary embolism regularly, all patients were followed up for at least 6 months, all patients completed echocardiography, and the symptomatic patients were evaluated by right cardiac catheterization. The results showed that 35% (290/845) of patients with acute pulmonary embolism had complete recovery of cardiopulmonary function, while 65% of patients still had decreased activity endurance, which was in line with post-pulmonary embolism syndrome. Clinical evaluation of symptomatic patients found a confirmed diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH) in 8.4% (38/450) and a diagnosis of chronic pulmonary thromboembolism in 3.3% (15/450). 6.9% (31/450) of patients had chronic heart failure with decreased ejection fraction, 34.2% had left ventricular diastolic dysfunction, and another 6.2% (28/450) of patients were found to have heart valve disease. Other causes of decreased activity endurance included coronary artery disease 6.9%, pulmonary disease 9.3%, pathological obesity 3.3%, tumors 3.3%, psychiatric factors 1%, rheumatic disease 1%, and anemia 1%. The results of this study show that even after standardized anticoagulant therapy in patients with acute pulmonary embolism, the proportion of post-embolic syndrome is not low, and chronic thrombosis and other cardiopulmonary disease factors are the causes of post-embolic syndrome.

Population-based cancer survival assessment provides a valuable reference for the effectiveness of cancer services and can reflect cure prospects. In order to provide a comprehensive overview of cancer survival in seven high-income countries and to evaluate and compare the corresponding morbidity and mortality trends, the researchers included patients in seven countries (Australia, Canada, Denmark, Ireland, New Zealand, Norway and the United Kingdom) who diagnosed seven types of cancer (esophageal, gastric, colon, rectal, pancreatic, lung and ovarian) between 1995 and 2014, and followed up until December 31, 2015, with a total of 3 764 543 cancer cases included. The results show that between 1995 and 2014, the 1-and 5-year net survival rates increased for almost all cancer types. For example, in Denmark, Ireland and the United Kingdom, the 5-year rectal cancer survival rate increased by more than 13 percentage points. In 2010 – 2014, cancer survival rates were generally higher in Australia, Canada and Norway than in New Zealand, Denmark, Ireland and the United Kingdom. During the study period, a greater improvement in survival was observed in patients with cancer diagnosed before 75 years of age compared to those diagnosed at 75 years of age and later, especially for cancers with poor prognosis (e.g., esophagus, stomach, pancreas and lung). Apparent progress in the control of gastric, colon, lung (men) and ovarian cancers (i.e. improved survival, reduced mortality and morbidity) was found during the study period. The findings suggest progress in the indicators of 4 types of cancer in the joint assessment of morbidity, mortality and survival trends. Cancer survival rates continue to rise in high-income countries. However, the international gap remains. While truly effective evaluation comparisons need to guarantee minimal differences in registration, classification, and coding, disease diagnosis, timely access to effective treatment, and degree of comorbidity may be the main determinants of patient outcome. Future studies need to assess the impact of these factors to further understand international differences in cancer survival.