Genetic analysis of a case of B-acute lymphoblastic leukaemia with double Philadelphia chromosomes and double derivative chromosome 9s / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a rare case of acute B-lymphocytic leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative chromosome 9s [der(9)].@*METHODS@#A patient with double Ph and double der(9) B-ALL who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western Medicine Hospital in June 2020 was selected as the subject. Bone marrow morphology, flow cytometry, G-banding karyotyping, fluorescence in situ hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) were used to analyze bone marrow samples from the patient at various stages.@*RESULTS@#At initial diagnosis, the patient's bone marrow morphology and flow immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of the patient indicated double Ph, in addition with hyperdiploid chromosomes involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was positive. Genetic testing at the time of recurrence revealed presence of a heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication ratio of chromosome 22 was about 43%.@*CONCLUSION@#Since both der(9) homologs were seen in 40% of cells, the possible mechanism for the double der(9) in this patient may be similar to that of double Ph, which might have resulted from non-disjunction during mitosis in the Ph chromosome-positive cell clone.

Current status of the imaging diagnosis of liver fibrosis / 临床肝胆病杂志

Liver fibrosis is the result of the progressive development of various chronic liver diseases and can develop into liver cirrhosis and liver cancer with high mortality rates. Early diagnosis of liver fibrosis is of great significance for disease reversal. At present, liver biopsy is considered the gold standard for the diagnosis of liver fibrosis, but it cannot be used as a routine screening method due to its shortcomings. In recent years, progress has been made in various noninvasive imaging methods, and this article reviews the current status of the research on computed tomography, magnetic resonance imaging, nuclear medicine, and ultrasound in the diagnosis of liver fibrosis.

Association between social support and self-management behaviors among patients with diabetes in community / 北京大学学报(医学版)

Objective:To study the status quo of directive and nondirective support from family or friends among patients with diabetes in community and to explore the association between directive, nondirective support from family or friends and self-management behaviors.Methods: The data of the subjects were from the Community Diagnosis in Tongzhou District, Beijing survey.Questionnaire-based investigation, physical examination and glycated hemoglobin test were conducted on 474 eligible patients in community.The summary of diabetes self-care activities measure (SDSCA) was adopted to investigate the self-management behaviors, and directive and nondirective support scale among patients with diabetes (DNSS-PD) was adopted to measure the directive and nondirective support among patients with diabetes.Results: A total of 452 patients with diabetes were included in the analysis.The average score of directive support was 2.53±1.07, and only 27.6% patients had high level directive support.The average score of nondirective support was 3.13±1.12 and 50.8% patients had high level nondirective support.The average SDSCA total score was 35.38±14.21 and the corresponding scoring percentage was 45.95%.Only 20.6% patients had optimal self-management.The total score, score of diet and physical activity, general self-management situation, diet self-management situation and physical activity self-management situation of the patients in high level directive support group were significantly better than in low level directive support group.The total score, score of self-management behaviors in five aspects (diet, physical activity, blood glucose self-monitoring, foot care and smoking), general self-management situation, self-management situation of five aspects of patients in high level nondirective support group were significantly better than in low level nondirective support group.Gender (OR=2.729), nondirective support level (OR=4.890), age (OR=0.969) and body mass index (BMI) (OR=0.819) were important influencing factors of self-management behavior.Conclusion: The status quo of self-management among patients with diabetes is not optimistic.Patients obtain more nondirective support than directive support from family and friends.However, the support level of both nondirective and directive support should be improved in the future.Both high level directive support and high level nondirective support had positive correlation with better self-management behaviors.Nondirective support had positive correlation with five aspects of self-management behavior, while directive support had positive relation with self-management behavior in aspects of diet and physical activity.In addition, more consideration and support of self-management should be provided for older obese male patients with diabetes in community, especially nondirective support.

Application of health belief model to research determinants of exercise behavior among overweight and obese residents in Beijing / 中华健康管理学杂志

Objective To study the determinants of exercise behavior among the overweight and obese residents, so as to provide reference for policy-making and health promotion in the future. Methods The study only enrolled overweight and obese residents to conduct a questionnaire survey and physical examination including height, weight and waist circumference. The self-designed questionnaire based on Health Belief Model had acceptable validity and reliability. Structural Equation Modeling was used to analyze the determinants of exercise behavior after univariate analysis and correlation analysis. Result Totally 2 489 overweight and obese residents(1 182 male and 1 307 female)were included in this study. Their average age was 45.3±14.2 years and their median amount of exercise was 4 thousand-step equivalent with quartile of (0.5, 10.0); 22.9% of these residents never took any exercise. Males with high school and equivalent level of education and an income of 5 000 to 10 000 yuan, took more exercise than other demographic groups. Amount of exercise had a positive correlation with perceived benefits of exercise, perceived severity of disadvantage of low exercise and self-efficacy, while it had a negative correlation with subjective barriers and objective barriers. Structural Equation Modeling showed that perceived subjective barriers, objective barriers and self-efficacy were determinants of exercise behavior. Their total standardized effects on exercise behavior were-0.085 (P=0.020),-0.242 (P<0.001) and 0.184 (P<0.001) respectively.Those with higher self-efficacy and less barriers preferred to do more exercise. Indirect effect widely existed in the SEM and self-efficacy were the most important mediating variables of all the other significant determinants. Conclusion The overweight and obese residents are seriously lack of exercise, which need some targeted intervention, especially by improving their self-efficacy and reducing their objective barriers.

Physical activity level and its influence factors among residents in one suburb district of Beijing / 北京大学学报(医学版)

Objective:To study the physical activity level and its influence factors among residents in one suburb of Beijing,so as to provide specific interventions for different people in different circum-stances and to provide reference for health relevant policy-making in the future.Methods:In the study, 7 31 9 subjects aged 1 8 years or above were involved.The self-designed questionnaires based on Health Belief Model (HBM)had acceptable validity and reliability.The physical activity levels were calculated to classify sufficient or insufficient amount by a thousand-step equivalent greater than or equal to 6 or 1 0. Multiple variable Logistic regression was used to explore the influence factors of the physical activity among the residents.Results:The residents’median amount of physical activity in the suburb district of Beijing were 9.1 thousand-step equivalent with quartile of (3.8,20.4).The percentages of the thou-sand-step equivalent greater than or equal to 6 or 1 0 were 63.7% and 47.7%,respectively.The median amounts of physical activity from work or household chores,transportation and recreation physical activi-ties were 4.0,1 .0,0.0 and the components of the total amount of physical activity from those were 61 .7%,1 8.3% and 20.1 %,respectively.There were 8.6% residents whose life did notinvolve moder-ate or vigorous intensity activities.By using factor analysis,five factors were extracted from the scale based on the HBM;These factors together contributed to 63.7% of the sum of the squared loadings.The differences of physical activity levels on education level,age,gender,self-efficacy,cues,subjective and objective barriers were statistically significant (P <0.05).Those who were female,with older age,lower education level,higher self-efficacy,fewer cues,fewer subjective and objective barriers preferred to do more physical activities.Conclusion:The physical activity levels among the residents in the suburb dis-trict of Beijing are moderate and high,and most amount of physical activities from work or household chores.Those who are male and whose ages are from 1 8 to 29 years and whose education levels are of university or above should be focused on intervention.Specific interventions should be developed for dif-ferent people in different situations;More attention should be paid to improve the residents’self-efficacy and reduce the subjective and objective barriers of physical activity,and we also should actively advocate people to have more leisure exercise so as to improve the physical activity level among all residents.