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Objective:To investigate genetic variation profiles of δ-globin (HBD gene) and hematological phenotypes in Guangdong population.Methods:Retrospective case analysis was performed in this study. Blood samples of 11 616 couples who participated in free thalassemia screening in Guangzhou from July 2020 to December 2022 were collected which underwent blood routine tests and hemoglobin (Hb) capillary electrophoresis. According to the results, 154 samples were enrolled in this study: (1)group of 35 cases with HbA 2 <2.0% but no HbF band; (2)group of 64 cases with HbA 2 < 2.0% and HbF band; (3)group of 25 cases with HbA 2 <2.0% and suspected HbA 2 variants; (4) group of 25 cases with HbA 2 ≥2.0% and <3.5% and HbF band, as well as abnormal blood routine report [mean corpuscular volume (MCV) <82 fl and/or mean corpuscular hemoglobin (MCH) <27 pg]; (5)group of 5 cases with HbA 2 ≥2.0% and <3.0% accompanied with β thalassemia gene carriers Sanger sequencing was used to detect single nucleotide variants of δ-globin. Results:(1) A total of 22 genetic variations were detected, including 6 de novo variations, and the top 3 genetic variations were respectively c.-127T>C (57.02%, 65/114), c.-80T>C (9.65%, 11/114), c.349C>T (7.89%, 9/114). (2) In group of patients with HbA 2 <2.0% but no HbF band, 22 cases (62.85%, 22/35) had HBD gene variation, including 7 cases with MCV and MCH lower than reference values, 4 cases with α thalassemia; 13 cases had no HBD gene variation, including 12 cases with lower MCV and MCH. Among 19 cases with abnormal blood routine test results, levels of HbA 2 in patients (7 cases) with HBD gene variation were lower compared with those without HBD gene variation (12 cases) ( P<0.01%). (3)In group of patients with HbA 2<2.0% with HbF band, 59 cases (92.18%, 59/64) had HBD gene variations whose mutations all occurred in promoter region, and the HbF were all lower than 5.0%; 5 cases with HbF >5.0% had no HBD gene variation. (4) In group of patients with HbA 2 <2.0% and suspected HbA 2 variants, the detection rate was 100% (25/25) and δ-globin variants <1.0%. (5) In group of patients with HbA 2 ≥2.0% and <3.5% and HbF band accompanied with abnormal blood routine results, no HBD gene variation was found. (6) In group of 5 patients with HbA 2 ≥2.0% and <3.0% with β thalassemia gene carriers, HBD gene variation were found in all cases, and the level of HbA 2 was (2.62±0.17)% and HbF was (3.62±2.22)%. Conclusions:There are various genotypes of HBD gene variation, among which HBD: c.-127T>C is the most common in Guangdong population in China. Mutations in the promoter region may cause decrease in HbA 2 and increase in HbF which is mostly less than 5% but exceeds 5.0% when combined with β thalassemia. Our study enriched the gene mutation profiles of HBD gene in Guangdong population.
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Objective:To explore the level of oncology nurses’ organizational silence and its influencing factors.Methods:Totally, 278 oncology nurses were recruited to fill out the General Information Questionnaire, Nurses’ Organizational Questionnaire, Perceived Social Support Scale and Connor-Davidson Resilience Scale short version.Results:The score of Nurses’ Organizational Questionnaire was (51.27±17.28), the score of acquiescent silence was (15.91±5.42), the score of defensive silence was (15.83±6.29), the score of prosocial silence was (11.03±4.16) and the score of indifferent silence was (8.50±3.46). The perceived social support and psychological reliance were negatively associated with nurses’ organizational silence ( r values were -0.364, -0.497, all P<0.01). The results of multiple linear regression analysis showed that age, degree of education, perceived social support and psychological reliance were the influencing factors of oncology nurses’ organizational silence (all P<0.05), which could explain 45.00% of the variation. Conclusions:The level of oncology nurses’ organizational silence is at a medium level, which should be improved. Nursing managers should pay attention to the phenomenon of oncology nurses’ organizational silence, and take appropriate interventions to break the phenomenon, so as to improve the job satisfaction and work efficiency of nurses’.
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Objective To study the expression of muhidrug resistance( MDR1 ) ,and clinical significance of MDR1 gone expression in EOC. Methods Reverse transcription polymerase chain reaction was used to determine the expression of MDR1 in 27 cases of epithelial ovarian cancer,38 cases of benign tumor and 20 cases of normal ovarian tissue. The expression rate of MDR1 and the clinical significance was explored. Results The expression rate of MDR1 gone in malignant,benign tumor and normal tissue of ovary was74.1%, 15.7 % and 0 % respectively. The levd of MDR1 gone expression in EOC was obviously higher than that in benign tumor(P<0.01 ). The non-respond-era to combination chemotherapy exhibited higher ratio of MDR1 expression than the respondera( P<0.05 ). Conclu-sion The expression of MDR1 is higher in EOC than that in normal ovary tissue and benign tumor. The expression of MDR1 is closely related to the tumor response to chemotherapy.