Volume 100 ·  Issue 24 ·  2020

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.

To analyze the occurrence and clinical characteristics of testicular adrenal rest tumor (TART) in 21-hydroxylase deficiency (21-OHD) patients, and further explore the possible factors related to the occurrence of TART.

Twenty-seven male 21-OHD patients who visited Peking Union Medical College Hospital from January to December 2018 were enrolled and their clinical and biochemical data were collected. The CYP21A2 mutations were identified by Sanger sequencing and multiple ligation probe amplification (MLPA). Patients were divided into different subgroups according to the residual activity of 21-hydroxylase: Null (residual enzymatic activity 0, 3 cases), group A (0-<1%, 9 cases), group B (1%-5%, 7 cases), group C (20%-50%, 2 cases) and group D (6 cases). The ultrasound of testis was used to detect whether there was TART and its morphological characteristics.

Among 27 patients with 21-OHD [average age (17.4±9.3) years], 55.6% (15/27) had TART lesions, most of them were adolescents, and the youngest was only 4 years old. The lesions were mostly bilateral and hypoechoic. The levels of 17α-hydroxyprogesterone (17-OHP) and progesterone in patients with TART were higher than those in patients without TART [17-OHP: 199.6 (62.1, 232.7) nmol/L vs 7.4 (3.2, 105.0) nmol/L,P=0.003; progesterone: 97.1 (42.0, 126.8) nmol/L vs 5.4 (0.7, 20.0) nmol/L, P=0.004]. There was a correlation between the occurrence of TART and genotype of CYP21A2. Patients with Null and A genotypes were more likely to have TART than those with B and C genotypes (8/12 vs 4/9, P=0.021).

TART is common in 21-OHD male patients, which is related to 17-OHP and CYP21A2 genotype. It is of great significance for the early screening of TART in 21-OHD patients.

To investigate the effect of enzyme-linked immunospot (ELISPOT) on accelerated co-cultured dendritic cells (acDCs) and direct detection of islet full-length antigen-specific T cell response in peripheral blood of patients with type 1 diabetes mellitus (T1DM).

Sixteen patients with T1DM[9 males, 7 females, mean age(28.5±9.4)years] and 12 age-and sex-matched healthy controls were selected in the Department of Metabolism and Endocrinology, the Second Xiangya Hospital between March 2012 and August 2014. The numbers of IFN-γ secreting CD4⁺T cells responding to glutamic acid decarboxylase 65 (GAD₆₅), C-peptide (CP) and insulin (INS) were detected by ELISPOT-acDCs and ELISPOT-direct assays, respectively. The positive rate of islet autoantigen and associated antigen reactive T cells under different detection assays were compared.

The positive rate for GAD₆₅, INS, and CP antigen reactive T cells detected by ELISPOT-acDCs was 1/16, 6/16 and 4/16, respectively, and T cells positive for INS in T1DM patients were higher than that in the controls (0/12) (P=0.024). Combining GAD₆₅, CP and INS-ELISPOT-acDCs detection, the positive rate for CD4⁺ T cells in T1DM patients was higher than that in the controls (9/16 vs 1/12, P=0.016). The positive rate for GAD₆₅, INS, and CP antigen reactive T cells detected by ELISPOT-direct detection was 2/16, 1/16 and 7/16, respectively, and T cells positive for CP was higher than that in the controls (1/12), but the difference was not statistically significant (P=0.088). Likewise, the positive rate for CD4⁺ T cells was higher in T1DM patients than that in the controls by combined GAD₆₅, CP and INS-ELISPOT-direct detection (8/16 vs 1/12, P=0.039). Compared with the ELISPOT-direct assay, the positive rate of INS antigen specific T cell response detected by ELISPOT-acDCs was higher (P=0.041). No statistical differences of other antigens were found between the two groups (all P>0.05).

Both multiple islet antigens-combined CD4⁺-ELISPOT-acDCs and direct assays could provide diagnostic value of cellular immunology for T1DM patients. The ELISPOT-acDCs assay is superior to the ELISPOT-direct assay in the detection of INS antigen-specific T cell response.

To provide reference for clinicians in diagnosis and treatment of antisynthetase syndrome with interstitial pulmonary disease (ASS-ILD) by analyzing the clinical features, imaging features and pulmonary function changes of ASS-ILD patients.

A total of 92 patients with ASS-ILD diagnosed in the Respiratory Center of China-Japan Friendship Hospital from January 2015 to May 2018 were included, clinical manifestations, high-resolution computed tomography (HRCT), pulmonary function test, treatment and outcome were retrospectively analyzed.

The average age of the 92 patients was (58.6±12.2) years with a ratio of male to female 1∶1.79. The main types of anti-synthetase antibody were anti-Jo-1 antibody (37 cases, 40.2%) and anti EJ antibody (26 cases, 28.3%). The most common symptoms of ASS-ILD were cough (79 cases, 85.9%), shortness of breath (60 cases, 65.2%), expectoration (54 cases, 58.7%), fever (34 cases, 36.9%), and common signs were craftsman′s hand (30 cases, 32.6%) and joint pain (23 cases, 25.0%). The most common imaging findings in HRCT were ground-glass opacities(68 cases, 73.9%), reticulations (45 cases, 48.9%), tractive bronchiectasis (40 cases, 43.5%) and consolidation (39 cases, 42.4%). The most common types of ILD were non-specific interstitial pneumonia (NSIP) (63 cases, 68.5%), followed by NSIP-organic pneumonia (OP) (12 cases, 13.0%). The main type of lung function impairment was mild restrictive ventilation dysfunction. There were no significant differences in clinical features, imaging findings and pulmonary function changes in different subtypes of ASS-ILD patients (all P>0.05). Corticosteroids was used in 78 (84.8%) of ASS-ILD patients, and 34 cases (37.0%) were given cyclophosphamide. A total of 91 patients (98.9%) were discharged with improvement and 1 anti-EJ positive patient died.

ASS-ILD occurs frequently in middle-aged and old women. Respiratory symptoms, craftsman′s hands and arthritis are the most common clinical manifestations. The most common imaging types of ILD are NSIP and NSIP-OP. Corticosteroids is commonly used for treatment.

To investigate the rule of mediastinal lymph node metastasis of papillary thyroid carcinoma and the application of therapeutic mediastinal lymph node dissection through the sternotomy approach in the treatment of mediastinal lymph node metastasis of papillary thyroid carcinoma.

All cases of papillary thyroid carcinoma with mediastinal lymph node metastasis treated through sternotomy cooperated by thoracic surgeons and head and neck surgeons from January 2006 to January 2017 in Cancer Hospital of Chinese Academy of Medical Sciences were included in this study. The distribution, metastasis rate, metastasis degree, surgical method, surgical complications and postoperative survival of patients with mediastinal lymph node metastasis were retrospectively analyzed.

A total of 31 patients (16 males and 15 females) with papillary thyroid cancer with mediastinal lymph node metastasis, with a median age of 46 (19-65) years, were enrolled in the group. Partial upper sternotomy was used in 28 cases, and total sternotomy was used in 3 cases. The mediastinal lymph nodes of papillary thyroid carcinoma metastasized farthest to the station 6, and the lymph node metastasis rate of each group from high to low was: 2R (61%), 1R (39%), 3A (39%), 1L (16%), 2L (10%), 4R (10%), 5 (3%) and 6 (3%). No metastasis was observed in station 3P, 4L and 7. In addition, the degree of lymph node metastasis at station 2R was the highest, reaching 35% (77/219). Extra-nodal invasion of mediastinal metastatic lymph nodes in thyroid papillary carcinoma is common (23%), easily fuses into masses (23%) and invades peripheral vascular nerves (26%). Up to 29% of blood transfusions are required during or after surgery due to oozing or bleeding (9/31). The 1-, 3-, 5-and 10-year survival rates of patients undergoing surgical treatment were 94%, 94%, 87% and 81%, respectively.

Papillary thyroid carcinoma can metastasize to almost all mediastinal lymph nodes except station 3P, 4L and 7. Radical mediastinal lymph node dissection through sternotomy is an effective method for the treatment of mediastinal lymph node metastasis of thyroid papillary carcinoma.

To explore the application of Endo-GIA stapler in laparoscopic radical cystectomy, especially in the treatment of lateral bladder ligament, and to evaluate its clinical feasibility and practicability.

A retrospective analysis of clinical data about 38 cases of laparoscopic radical cystectomy (LRC) treated in the Department of Urology, Chaoyang Hospital of Beijing and Cancer Hospital, Chinese Academy of Medical Sciences from July 2017 to June 2019 were conducted. The patients were divided into Endo-GIA stopler group(18 cases) and non-Endo-GIA stopler group (20 cases) according to whether Endo-GIA stapler were used. The basic clinical data, operation time of bladder lateral ligament, operation time of bladder lateral wall, operation time of bladder resection, amount of bleeding during operation, pathological data after operation and related indicators of recovery after operation were compared between the two groups.

All 38 patients underwent radical cystectomy (RC) successfully under 3-D laparoscopy without conversion to open surgery. The operation time of bladder lateral ligament in Endo-GIA stapler group was significantly shorter than that in non-Endo-GIA stapler group [(3.25±0.75) min vs (9.20±2.95) min, P=0.042]; the operation time of bladder lateral wall in Endo-GIA stapler group was significantly shorter than that in non-Endo-GIA stapler group [(8.06±1.66) min vs (14.30±3.37) min, P=0.016]. The operation time of cystectomy in the Endo-GIA stapler group was significantly shorter than that in the non-Endo-GIA stapler group [(47.06±4.70) min vs (61.60±14.91) min,P=0.003]. The amount of bleeding in the Endo-GIA stapler group was significantly shorter than that in the non-Endo-GIA stapler group [(37.77±21.30) ml vs (114.50±39.80) ml, P=0.015]. The time of drainage tube removal in Endo-GIA group was significantly shorter than that in the non-Endo-GIA group [(5.83±1.54) d vs (7.30±3.00) d, P=0.002]. The length of post-hospitalization in Endo-GIA group was significantly shorter than that in the non-Endo-GIA group [(7.67±1.78) d vs (9.60±3.25) d,P=0.036]. However, there was no significant difference in other basic clinical data, post-operative pathology and post-operative recovery related indicators.

Laparoscopic radical cystectomy using Endo-GIA stapler device is safe and feasible. It is easy to operate, shorten the operation time significantly, and reduce the amount of bleeding. To a certain extent, it is conducive to the recovery of patients after operation to some extent, and worthy of clinical application.

To explore the comprehensive effect of exercise-based cardia crehabilitation in patients managed with medical alliance who have undergone percutaneous coronary intervention (PCI) from Chest Pain Center.

A total of 91 post PCI patients with coronary atherosclerotic heart disease were enrolled into the study. Fifty-four patients were in exercise rehabilitation group and 37 patients were in control group according to whether they were managed with medical alliance. Scores of Short Form -36 Health Survey (SF-36),qualified rate of blood pressure, blood glucose, blood lipid and incidence of MACEs of patients were compared at discharge, 1 month after discharge and 3 months after discharge between two groups.

The qualified rate of blood lipid of patients in exercise rehabilitation group was significantly higher than that in control group 3 months after discharge (P<0.05). There was significant difference in Scores of physical functioning, role-physical (RP), general health (GH), vitality (VT), social functioning (SF), role-emotional (RE), mental health (MH) and Quality of Life (QL) between the two groups 1 month after discharge(P<0.05)and there was significant difference in Scores of RP, GH, VT, SF, RE, MH and QL between the two groups 3 months after discharge(P<0.05).

Medical alliance management has positive effects on patients who have undergone PCI from Chest Pain Center, improves the motor function and quality of life. Therefore, it is worthy of promotion with the support of the policy.

To analyze the clinical characteristics and risk factors of non-operative acute upper gastrointestinal hemorrhage in patients with adenocarcinoma of the esophagogastric junction.

The clinical diagnosis and treatment data of patients with adenocarcinoma of esophagogastric junction with non-operative acute upper gastrointestinal hemorrhage admitted to Cancer Hospital of Chinese Academy of Medical Sciences from 2004 to 2018 were collected retrospectively, and the survival of patients was followed up by telephone. SPSS software was used for database establishment and analysis. Cox proportional-hazards model was applied to analyse the survival and related risk factors.

A total of 70 patients were included in this study, with a median age of 65 (20-81 years). The ratio of male to female is 2.18∶1. There were 36 cases of Siewert type Ⅱ (51.4%) and 34 cases of Siewert type Ⅲ (48.6%). The lymph node metastasis rates of Siewert Ⅱ and Siewert Ⅲ were 75.0% and 94.1%, respectively (P=0.028). The median overall survival time (OS) of all 70 patients was 11.6 months. The median OS of Siewert Ⅱ and Siewert Ⅲ were 20.0 months and 8.5 months, respectively, and the 1-year survival rates were 42% and 9%, respectively (P=0.027). The median OS of M0 and M1 patients were 19.1 and 7.7 months, respectively, and the 1-year survival rates were 40% and 4%, respectively (P=0.049). The median OS of the treatment of operation+chemotherapy, chemotherapy or best supportive care after hemorrhage were 60.0, 22.2, and 7.9 months, respectively, and the 1-year survival rates were 89%, 45%, and 2%, respectively (all P<0.05). Multivariate analysis showed that Siewert Ⅲ (HR=1.965, 95%CI: 1.078-3.583), M1 stage (HR=1.787, 95%CI: 1.002-3.187) and operation+chemotherapy treatment after hemorrhage (HR=0.132, 95%CI:0.032-0.552) were independent prognostic factors for patients of esophagogastric junction adenocarcinoma with non-operative acute upper gastrointestinal hemorrhage.

The survival of patients of esophageal gastric junction adenocarcinoma with non-operative acute upper gastrointestinal hemorrhage is poor, especially for patients of Siewert Ⅲ and the late stage. Active operation and chemotherapy after bleeding may positively affect the survival of these patients.

To investigate the expression of Lymphocyte activation gene 3 (LAG3) in myelodysplastic syndromes (MDS) patients.

A total of 16 MDS patients newly diagnosed in Hematology Department of Tianjin Medical University were enrolled from January to November 2019. The healthy control (HC) group includes 16 cases of healthy adults. The expression levels of LAG3 on CD8⁺T cells, CD4⁺T cells and regulatory T cells (Treg) in MDS patients and healthy controls were detected by flow cytometry.

A total of 16 patients with MDS were included, including 5 males and 11 females, with a median age of 56 (18-80) years old. HC group includes 16 healthy adults, 8 men and 8 women, with a median age of 40 (17-69) years. There was no statistically significant difference in gender and age composition between the two groups (both P>0.05). The expression of LAG3 on CD8⁺T cells in MDS patients (74.45%±22.31%) was significantly higher than that in HC group (58.78%±14.82%, P<0.05). The LAG3 expression on Treg in MDS patients (64.91%±10.32%) were significantly higher than that of HC group (49.09%±13.58%, P<0.05). There was no statistical difference in LAG3 expression on CD4⁺T cells between the two groups.

The expression of LAG3 on CD8⁺T cells and Treg increases in MDS patients than that of healthy people.

To investigate the role of Wnt/β-catenin/TCF-4 pathway in renal cancer cells and to analyze its possible mechanism.

β-catenin and TCF-4 were inhibited by siRNA in 786-O cells. The proliferation of transfected cells was detected by CCK8. The cell death of transfected cells was detected by acridine orange -ethidium bromide staining. The expressions of TCF-4, bcl-2, bax and Caspase-3 were detected in transfection group, empty vector group and negative control groups by western blot.

The cell proliferation ability of the β-catenin transfection group was significantly lower than that of the control group (0.443±0.145 vs 0.910±0.721), meanwhile, the cell death rate was significantly increased (16.38±5.32 vs 6.61±1.04), the expression level of Caspase 3 and bax was increased, and the expression of anti-apoptotic protein Bcl-2 was decreased. Decreased TCF-4 led to the same results as inhibition of β-catenin (all P<0.05).

The Wnt/β-catenin/TCF-4 pathway may play a role in the regulation of proliferation and apoptosis in 786-O renal cancer cells. The mechanism might through regulating of the downstream apoptosis proteins Caspase 3, bax and anti-apoptotic protein Bcl-2.

To analyze the level and trend of respiratory disease mortality in China from 2002 to 2016.

The standardized mortality rates were calculated based on the China health statistics yearbook (2003-2012) and China statistical yearbook of health and family planning (2013-2017) data released by the statistical information center of National health Commission of the People′s Republic of China. Joinpoint model was used to calculate the standardized mortality rates (SMR), Annual percentage change (APC) and the average annual percentage change (AAPC) for standardized mortality rates.

The SMR of respiratory diseases and chronic lower respiratory diseases were decreased significantly in 2002 to 2016 (AAPC=-3.6%, AAPC=-6.4%, P<0.001, respectively). The SMR of lung cancer showed a significant increase trend (AAPC=1.6%, P=0.001). There were no significant differences in the SMR of pneumonia and pneumonoconiosis (APCC=1.0%, P=0.242; APCC=-0.2%, P=0.905). Both urban and rural SMR of respiratory diseases were declining significantly (AAPC=-2.9%, P=0.001; AAPC=-4.2%, P<0.001). Both urban and rural SMR of lung cancer showed an increasing trend (AAPC=0.6%, P=0.022; AAPC=2.1%, P=0.003, respectively). The SMR of pneumonia in urban areas showed an upward trend (AAPC=2.7%, P=0.017). The SMR of respiratory disease of all age groups (<35 years old, 35-65 years old and ≥65 years old) showed a downward trend (AAPC=-3.8%,P=0.001; AAPC=-2.6%, P<0.001; AAPC=-3.9%, P<0.001). The SMR of pneumonia between 35 and 65 years old and SMR of lung cancer over 65 years old showed an increasing trend (AAPC=2.8%, P=0.001; AAPC=2.4%, P<0.001). The SMR of respiratory diseases among males and females showed a downtrend (AAPC=-3.1%, P<0.001; AAPC=-4.3%, P<0.001). However, the SMR of lung cancer in males and females increased significantly (AAPC=1.2%, P<0.001; AAPC=2.5%, P<0.001, respectively). There were no significant trends in the SMR of pneumonia and pneumoconiosis in males (AAPC=1.5%, P=0.096; AAPC=-1.6%, P=0.218). There was no obvious trend in the SMR of pneumonia in females (AAPC=-0.1%, P=0.872).

The SMR of respiratory diseases in China generally shows a downward trend. The overall SMR and SMR of major respiratory diseases varies among different regions, genders and age groups.

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.