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As medical research progresses, an increasing number of genetic variations are being incorporated into international guidelines for the diagnosis and treatment of hematological malignancies. In several international guidelines updated in 2022, more emphasis is placed on the importance of genetic variation in the classification and prognosis assessment of hematological malignancies. The clinical diagnosis and treatment of hematological malignancies have entered the era of precision medicine and genomics, relying increasingly on the application of high-throughput sequencing technology.
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Background Occupational stress has become one of the main factors affecting people's physical and mental health, and there are many sources of occupational stress in petrochemical enterprises. Objective To evaluate the current situation of occupational stress and its related factors among employees in a petrochemical enterprise, and to provide a scientific basis for reduing the risk of occupational stress among employees in petrochemical enterprises. Methods In June 2022, a cross-sectional questionnaire survey was conducted in a petrochemical enterprise in Hainan, including a general information questionnaire for basic information, the Effort-Reward Imbalance (ERI) for occupational stress, and the Pittsburgh Sleep Quality Index (PSQI) for sleep quality. Chi-square test was used to compare differences in positive occupational stress by demographic characteristics, occupational characteristics, behavior, and occupational disease hazards. Logistic regression was employed to evaluate factors associated with occupational stress. Results Of the 1129 questionnaire distributed, a total of 999 valid questionnaire were returned,with a valid recovery rate of 88.5%. The positive rate of occupational stress among employees in the petrochemical enterprise was 29.5%. There were statistically significant differences in the positive rate of occupational stress among the employees grouped by gender, age, marital status, body mass index (BMI), monthly income, length of service, smoking, weekly working hours, type of work, working mode, sleep quality, noise exposure, and high temperature exposure (P<0.05). In terms of positive occupational stress among subcategories: workers being male (vs. female), working >40 h per week (vs. ≤40 h per week), regular day shift (vs. shift work), smoking (vs. not smoking), with exposure to noise and heat (vs. without such exposure), and having poor sleep quality (vs. good sleep quality) reported higher positive occupational stress rates (P<0.05). The results of pairwise comparison showed that the positive rate of occupational stress in divorced (50.0%) or married (32.0%) workers was higher than that in single (27.1%) workers, and higher in operation workers (30.6%) than in other types of work (20.5%) (P<0.05). The trend chi-square results showed that the positive rate of occupational stress increased linearly with the increase of age, length of service, BMI, or monthly income (P<0.05). The results of logistic regression analysis after adjustment showed that workers who worked >40 h a week had a higher risk of occupational stress than those who worked ≤40 h a week, and the OR (95%CI) was 1.909 (1.135, 3.211); the workers of other types of work had a lower risk of reporting occupational stress than operation workers, and the OR (95%CI) was 0.513 (0.272, 0.968); the workers with noise exposure had a higher risk of occupational stress than the workers without, and the OR (95%CI) was 2.457 (1.070, 5.642). Conclusion The positive rate of occupational stress among employees in this petrochemical enterprise is high. Among them, operators, working hours per week>40 h, and noise exposure may increase the incidence of occupational stress. The enterprise should actively take measures to reduce the occurrence of occupational stress among employees.
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Objective:To clarify the elements of post competency of public health professionals and technical personnel, and construct a post competency index system of public health professionals and technical personnel.Methods:Referring to the Hay Group Competency Dictionary and literature review method, the post competency information elements of public health professional and technical personnel were constructed, and were revised through the expert consultation method. Unit-level stratified sampling was used, and 120 public health professionals were invited to evaluate the importance of the elements. SPSS 26.0 was used for data analysis, the continuous data were expressed in ( x ± s) mode, and Pearson was used to study the degree of correlation of each dimension. Finally, the post competency index system for public health positions was constructed by using the factor analysis method to extract the common factor as the first-level index. Results:The index system contained 7 first-level indicators (43 items), including public health practice skills, clinical practice skills, professional basic subject knowledge, personal professional accomplishment, public health authority and management ability, public health leadership, and public health methodology knowledge. Its weight coefficients (%) were 20.03, 17.48, 15.89, 15.68, 13.98, 12.82 and 4.11, respectively. The elements with the highest materiality scores were personal protection, responsibility and professionalism.Conclusion:Personal protection and other public health practical skills and personal professional qualities such as sense of responsibility and professionalism are the core elements of public health positions, and it is recommended to strengthen the training of public health professionals' public health practical skills in actual work, and pay attention to the cultivation of personal professional qualities, so as to establish a better team of public health talents.
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Whether Fanconi anemia (FA) heterozygotes are predisposed to bone marrow failure and hematologic neoplasm is a crucial but unsettled issue in cancer prevention and family consulting. We retrospectively analyzed rare possibly significant variations (PSVs) in the five most obligated FA genes, BRCA2, FANCA, FANCC, FANCD2, and FANCG, in 788 patients with aplastic anemia (AA) and hematologic malignancy. Sixty-eight variants were identified in 66 patients (8.38%). FANCA was the most frequently mutated gene (n = 29), followed by BRCA2 (n = 20). Compared with that of the ExAC East Asian dataset, the overall frequency of rare PSVs was higher in our cohort (P = 0.016). BRCA2 PSVs showed higher frequency in acute lymphocytic leukemia (P = 0.038), and FANCA PSVs were significantly enriched in AA and AML subgroups (P = 0.020; P = 0.008). FA-PSV-positive MDS/AML patients had a higher tumor mutation burden, higher rate of cytogenetic abnormalities, less epigenetic regulation, and fewer spliceosome gene mutations than those of FA-PSV-negative MDS/AML patients (P = 0.024, P = 0.029, P = 0.024, and P = 0.013). The overall PSV enrichment in our cohort suggests that heterozygous mutations of FA genes contribute to hematopoietic failure and leukemogenesis.
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Humanos , Anemia Aplástica/genética , Epigênese Genética , Anemia de Fanconi/genética , Células Germinativas , Neoplasias Hematológicas/genética , Leucemia Mieloide Aguda/genética , Estudos RetrospectivosRESUMO
OBJECTIVE@#To detect fusion gene with pathological significance in a patient with refractory and relapsed acute B cell lymphoblastic leukemia (B-ALL) and to explore its laboratory and clinical characteristics.@*METHODS@#Transcriptome sequencing was used to detect potential fusion transcripts. Other laboratory results and clinical data of the patient were also analyzed.@*RESULTS@#The patient was found to harbor TCF3 exon 17-ZNF384 exon 7 in-frame fusion transcript. The minimal residual disease (MRD) has remained positive after multiple chemotherapy protocols including CD19-, CD22- targeted chimeric antigen receptor T cells immunotherapy. The patient eventually achieved complete remission and sustained MRD negativity after allogeneic hemopoietic stem cell transplantation (allo-HSCT).@*CONCLUSION@#Transcriptome sequencing can effectively detect potential fusion genes with clinical significance in leukemia. TCF3-ZNF384 positive B-ALL has unique laboratory and clinical characteristics, may not well respond to chemotherapy and immunotherapy, and is more likely to relapse. Timely allo-HSCT treatment may help such patients to achieve long-term disease-free survival. TCF3-ZNF384 positive B-ALL is not uncommon in pediatric patients but has not been effectively identified.
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Criança , Humanos , Linfócitos B , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Transplante de Células-Tronco Hematopoéticas , Laboratórios , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Transativadores/genética , TranscriptomaRESUMO
Objective:To investigate the infection spectrum revealed by metagenomics high-throughput next-generation sequencing (mNGS), and to provide a reference for infection diagnosis after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:A total of 64 patients who developed systemic or local infection symptoms after allo-HSCT in Hebei Yanda Lu Daopei Hospital from January 2018 to November 2018 were enrolled. Gene sequences of pathogenic microorganisms in blood, cerebrospinal fluid and bronchoalveolar fluid specimens were detected by using mNGS. The pathogenic microorganisms or suspected pathogens were determined based on the clinical manifestations of patients.Results:There were 97 samples of mNGS detection for 64 patients who underwent allo-HSCT. The most common gram-positive bacteria were staphylococcus haemolyticus (19 times) and staphylococcus (14 times), and the most common gram-negative bacterium was acinetobacter baumannii (8 times). The most common viruses were cytomegalovirus, EB virus and Torque teno virus (35, 22 and 23 times, respectively), and the most common fungi were malassezia globus (14 times) and candida parapsilosis (8 times). There were 3 mycobacterium tuberculosis complexes detected in 3 patients with acute myeloid leukemia who received allo-HSCT. Mycoplasma orale was detected in one patient's sputum, and none parasite was detected.Conclusion:mNGS can comprehensively reveal the infection spectrum of hematologic diseases after allo-HSCT, especially for pathogenic microorganisms that are rare or difficult to cultivate, and it can effectively help the diagnosis of clinically infectious pathogens.