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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 assess the correlation between Z-scores of positive noninvasive prenatal testing (NIPT) results and the positive predictive value (PPV) of NIPT. METHODS: Pregnancies with positive NIPT results at Guangzhou Women and Children's Medical Centre between July 2017 and May 2020 were included in this study. Fetal karyotyping or microarray analysis was provided to patients with abnormal NIPT results for confirmatory testing. Logistic regression analyses was applied to study the relationship between the Z scores and the PPV performance. The optimal cutoff values for indicating fetal common trisomies were obtained based on receiver operating characteristic (ROC) curve analysis, and then the PPV were calculated in pregnancies with positive NIPT results at Z-score greater than or equal to cutoff value and in patients with a Z-score between 3 and cutoff value respectively. RESULTS: A total of 214 pregnancies with positive NIPT results for fetal common trisomies were validated by invasive prenatal diagnosis and follow up in this study. Of these, NIPT indicated trisomy 13 in 25 cases, trisomy 18 in 54 cases and trisomy 21 in 135 patients. Logistic regression analyses showed a significant association (p < 0.05) between the Z-scores and true positive results for T21 and T18. For T13, the significant association was not observed (p > 0.05). The ROC curve analysis showed that the optimal cutoff Z-score for indicating fetal trisomies 13, 18, and 21 were 6.889, 7.574 and 6.612 respectively, and the corresponding area under curve were 0.706, 0.916, and 0.954. In this cohort with abnormal NIPT results, the cutoff values revealed a sensitivity of 96.8% and a specificity of 90% for indicating trisomies 21, and a sensitivity of 88.9% and a specificity of 92.6% for trisomies 18. However, probably due to the sample size, the sensitivity and specificity for indicating trisomy 13 were lower (85.7% and 61.1%) than that for trisomies 21 and 18. The PPVs in pregnancies with positive NIPT results at Z-score greater than or equal to cutoff value were 99.18% (121/122) for trisomy 21, 92.31% (24/26) for trisomy 18 and 46.15% (6/13) for trisomy 13. In patients with a Z-score between 3 and cutoff Z-score, the PPV of NIPT for trisomies 21, 18, and 13 were 30.77% (4/13), 10.71% (3/28), and 8.33% (1/12) respectively. Moreover, by classifying Z scores as 3 ≤ Z < 5, 5 ≤ Z < 10, and Z ≥ 10, the majority of Z scores were above 10 with a PPV of 99% for T21 and just 5.2% were between 3 and 5 with a PPV of 14.3%. In contrast for T18, over a third of tests had Z scores between 3 and 5. The PPV in this group is just over 5%. CONCLUSIONS: The present results show that the PPV performance of NIPT for fetal trisomies 13, 18, and 21 are closely associated with Z-score. The higher the Z-score, the greater the likelihood that the aneuploidy result is correct. Our experience in evaluating the Z-score accuracy of NIPT in this study could be of use in similar work.

Asunto(s)

Síndrome de Down/diagnóstico , Pruebas Prenatales no Invasivas/normas , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 18/diagnóstico , Adulto , Área Bajo la Curva , China/epidemiología , Síndrome de Down/clasificación , Síndrome de Down/epidemiología , Femenino , Humanos , Modelos Logísticos , Pruebas Prenatales no Invasivas/métodos , Pruebas Prenatales no Invasivas/estadística & datos numéricos , Embarazo , Curva ROC , Estudios Retrospectivos , Estadísticas no Paramétricas , Síndrome de la Trisomía 13/clasificación , Síndrome de la Trisomía 13/epidemiología , Síndrome de la Trisomía 18/clasificación , Síndrome de la Trisomía 18/epidemiología

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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.