Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.

BACKGROUND: Increased levels of fetal hemoglobin (HbF) can improve the clinical course of the patients with sickle cell anemia (SCA) or ß-thalassemia. The HBG1-HBD intergenic region plays an important role in this process. However, very few studies investigated whether the variations in this region have an effect on HbF expression. METHODS: We retrieved all the SNP data in the HBG1-HBD intergenic region and defined the haplotype blocks, then performed cluster analysis and selected a tagSNP. A total of 500 normal individuals and 300 ß-thalassemia carriers were enrolled. After routine blood and hemoglobin capillary electrophoresis testing, ß-thalassemia mutations were detected using PCR-reverse dot blot. The genotypes of the rs4910736 (A > C) and rs10128556 (C > T) were determined using Sanger sequencing; the relationship between the two SNPs and the levels of HbF was analyzed. RESULTS: Two haplotype blocks were constructed. Block 1 included seven haplotypes divided into two groups M and N by 11 tagSNPs, among which rs4910736 was selected as a tagSNP, while block 2 included three haplotypes. We found that the haplotypes of block 1 were statistically associated with HbF levels, but the non-tagSNP rs10128556 was shown to be more strongly associated with HbF levels than rs4910736. CONCLUSION: This work proved that the haplotypes in the HBG1-HBD intergenic region and SNP rs10128556 are both statistically associated with HbF levels, revealing the association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.

[Results of thalassemia screening and genetic diagnosis for 13 738 pregnant women].

OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations. RESULTS: Among 13 738 pregnant women, 1745 (12.70%) were suspected as thalassemia. In terms of native place, the provinces with highest screening-positive rates were Guangxi, Guangdong, Jiangxi and Guizhou. And the ethnic groups with highest screening-positive rates were Zhuang, Li, and Buyi. Among 801 women subjected to genetic testing, 457 (57.05%) were diagnosed with thalassemia. In total 9 genotypes of alpha- thalassemia were detected, with the most common genotypes being --SEA/alpha alpha (63.35%), - alpha3.7/alpha alpha (19.37%) and - alpha4.2/alpha alpha (8.90%). Eleven genotypes of beta- thalassemia were detected, with the most common genotypes being CD17/N (42.91%), CD41-42/N (32.46%) and IVS-II-654/N (11.94%). Two cases were detected with rare beta-thalassemia mutations (CD54-58/N and IVS-I-130/N). CONCLUSION: The screening-positive rate of thalassemia among pregnant women in Guiyang region is relatively high. The rates have shown substantial difference in terms of native place and ethnic group. Thalassemia-related mutations in Guizhou region have a diverse spectrum, which showed certain difference from those of other regions.

Analysis of risk factors for postoperative bleeding and recurrence after laparoscopic myomectomy in patients with uterine fibroids: a retrospective cohort study.

Background: In Asia, the incidence of uterine fibroids (UFs) in women is as high as 1.278%. However, there are few analyses of the prevalence and independent risk factors for bleeding and recurrence after laparoscopic myomectomy (LM). This study aimed to analyze the clinical characteristics of patients with UF and identify the independent risk factors for postoperative bleeding and recurrence after LM, so as to provide a reference basis for improving the quality of life of patients. Methods: Based on our exclusion and inclusion criteria, we retrospectively analyzed a total of 621 patients who developed UF from April 2018 to June 2021. The t-test, analysis of variance (ANOVA), and chi-square test were used to analyze the relationship between the clinical characteristics of the patients and postoperative bleeding as well as recurrence. Binary logistic regression was used to analyze the independent risk factors for the occurrence of postoperative bleeding and fibroid recurrence in patients. Results: The rates of postoperative bleeding and recurrence after LM for uterine fibroids were 4.5% and 7.1%, respectively. Binary logistic regression analysis showed that fibroid size [odds ratio (OR) =5.502, P=0.003], maximum fibroid type (OR =0.293, P=0.048), pathological type (OR =3.673, P=0.013), preoperative prothrombin time level (OR =1.340, P=0.003), preoperative hemoglobin level (OR =0.227, P=0.036), surgery time (OR =1.066, P=0.022), intraoperative bleeding (OR =1.145, P=0.007), and postoperative infection (OR =9.540, P=0.010) were independent risk factors for postoperative bleeding; meanwhile, body mass index (BMI) (OR =1.268, P=0.001), age of menarche (OR =0.780, P=0.013), fibroid size (OR =4.519, P=0.000), fibroid number (OR =2.381, P=0.033), maximum fibroid type (OR =0.229, P=0.001), pathological type (OR =2.963, P=0.008), preoperative delivery (OR =3.822, P=0.003), preoperative C-reactive protein (CRP) level (OR =1.162, P=0.005), intraoperative ultrasonography (OR =0.271, P=0.002), postoperative gonadotropin-releasing hormone agonist treatment (OR =2.407, P=0.029), and postoperative infection (OR =7.402, P=0.005) were independent risk factors for recurrence. Conclusions: At present, there is still a high probability of postoperative bleeding and recurrence after LM for UF. Clinical work should pay close attention to clinical features. Adequate preoperative examination to improve surgical precision, and strengthen postoperative care and education, thus reducing the probability of postoperative bleeding and recurrence in patients.

Reference intervals for HbA2 and HbF and cut-off value of HbA2 for ß-thalassemia carrier screening in a Guizhou population of reproductive age.

OBJECTIVE: The aims of this study were to establish the reference intervals for HbA2 and HbF in a Guizhou population of reproductive age, and to determine the cut-off value of HbA2 for ß-thalassemia carrier screening. METHODS: Hemoglobin analysis was performed on 832 individuals without hypochromic microcytic anemia to calculate the reference intervals for HbA2 and HbF. Three hundred and ninety one ß-thalassemia carriers and non ß-thalassemia individuals were analyzed for their HbA2 levels followed by detecting ß-globin gene mutations, then cut-off value of HbA2 for ß-thalassemia carrier screening was determined using ROC curve analysis. RESULTS: The reference interval for HbA2 in overall normal individuals was 2.3%-3.1%, and reference intervals for HbF in normal males and females (including normal females and pregnant women) were 0-0.5% and 0-1.0% respectively. The cut-off values of HbA2 for ß-thalassemia carrier screening in males, non-pregnant women, pregnant women and the overall set were 4.40%, 3.75%, 3.70% and 3.95% respectively. CONCLUSION: Gender and pregnancy status had no obvious influence on reference interval for HbA2. The HbF level was higher in females than in males, but pregnancy status had no obvious influence on HbF level. Cut-off value of HbA2 for ß-thalassemia carrier screening was obviously affected by gender but not by pregnancy status.

Volatile organic compounds emissions from traditional and clean domestic heating appliances in Guanzhong Plain, China: Emission factors, source profiles, and effects on regional air quality.

Solid (biomass and coal) fuels burned for residential heating are major sources of atmospheric volatile organic compounds (VOCs). In this study, VOC samples were collected in-situ from chimneys in 10 typical heating scenarios in rural areas of the Guanzhong Plain. A modified SUMA canister approach was then employed, followed by gas chromatography/mass spectrometry analysis. Emission factors (EFs) (as received basis) of targeted non-methane VOCs (NMVOCs) varied from 90.3 ±â€¯29.3 to 12300 ±â€¯1510 mg kg-1 in descending order of fuel wood > maize straw > bitumite ≫ anthracite (p < 0.05). Both clean stove and coal briquetting technologies effectively reduced VOC EFs compared with traditional heating methods. The EFs of methane (CH4) had similar characteristics to those of NMVOCs. However, they yielded different correlations with CO because of their differing mechanisms of formation. Coefficient of divergence (CD) values showed that a semi-gasifier has a limited effect on changing VOC profiles compared with a traditional stove using the same fuels. However, different types of fuel produce CD values over 0.50, which should therefore be classified as different sub-categories in source apportionment models. Correlation analysis showed that volatile matter content (V%) and modified combustion efficiency (MCE) were the two primary factors influencing NMVOC and CH4 emissions. A stepwise linear regression analysis showed that V%, MCE, and element nitrogen content (N%) can be used to predict total VOC (TVOCs, including CH4 and NMVOCs) emissions with regression coefficients of 0.23, -72.8 and -6.53, respectively (R2 = 0.92, p < 0.001). Ozone formation potential (OFP) EFs from burning solid fuel ranged from 72 to 18680 mg kg-1, with an approximate 50% contribution from alkenes. VOCs from burning solid fuel were equivalent to 62 to 22200 mg kg-1 secondary organic aerosol formation potential (SOAP), most of which (>95%) were contributed by aromatics. A semi-gasifier and coal briquettes were effective in reducing TVOC emissions, even when used in conjunction with a traditional stove and fuels. It is estimated that over 15,000 ton year-1 emissions can be reduced in Guanzhong Plain by adopting a semi-gasifier and coal briquettes, resulting in a 57,000 and 65,000 ton year-1 reduction of OFP and SOAP emissions, respectively. These results demonstrate that the use of clean heating technologies in Guanzhong Plain has considerable potential in relation to emissions reduction and thus provides a feasible solution to mitigate VOCs and related secondary pollutants emitted by residential solid fuel burning.

[Effect of Blocking PYR Complex Binding to DNA Site by Peptide Nucleic Acid on γ-Globin Gene Expression].

OBJECTIVE: To investigate the effect of blocking polypyrimidine complex binding to DNA site by using peptide nucleic acid (PNA) on γ-globin gene expression. METHODS: PYR-PNA, ß-PNA and RS-PNA (random sequence-PNA) were designed and synthesized, then were transfected into K562 cells with the cationic liposome lipofectamine 2000 used as vector. The expression of γ-globin gene at both the transcriptional and translational level was detected by RT-PCR and the Western blot respectively at 24 h, 48 h and 72 h after transfection with PNAs. RESULTS: Compared with RS-PNA and control groups, the expression of γ-globin gene at mRNA and protein levels in PYR-PNA group was significantly up-regulated(P<0.05), especially at 48 h after tranfection, the levels of mRNA and protein in PYR-PNA group were increased by 2.0 and 2.5 times than those in control group, respectively. CONCLUSION: PYR-PNA can significantly up-regulate the expression of γ-globin gene in K562 cells, this study may provide a new research idea for gene therapy of ß-thalassemia.

Differential expression of microRNAs in plasma of patients with prediabetes and newly diagnosed type 2 diabetes.

AIMS: MicroRNAs (miRNAs) are present in plasma and have emerged as critical regulators of gene expression at posttranscriptional level, and thus are involved in various human diseases, including diabetes. The objective of this study was to screen and validate differentially expressed plasma miRNAs in prediabetes and newly diagnosed type 2 diabetes (T2D). METHODS: In this study, we screened differentially expressed plasma miRNAs in prediabetes and newly diagnosed T2D by miRNA microarray analysis, and validated the expression of candidate miRNAs using quantitative reverse transcription polymerase chain reaction assays. Furthermore, we performed gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) pathway analyses to disclose functional enrichment of genes predicted to be regulated by the differentially expressed miRNAs. RESULTS: Notably, our results revealed that hsa-miR-1249, hsa-miR-320b, and hsa-miR-572 (P < 0.05) were differentially expressed among the three groups, which yielded an area under the receiver operator characteristics curve (AUC) of 0.784 [95 % confidence interval (CI) 0.685-0.883], 0.946 (95 % CI 0.906-0.985), and 0.843 (95 % CI 0.766-0.920) discriminating T2D patients from NGT control groups, respectively, while the AUC was 0.887 (95 % CI 0.818-0.957), 0.635 (95 % CI 0.525-0.744), and 0.69 (95 % CI 0.580-0.793) discriminating prediabetes patients from NGT control groups, respectively. In addition, GO and KEGG pathway analyses showed that genes predicted to be regulated by differentially expressed miRNAs were significantly enriched in several related biological processes and pathways, including the development of multicellular organisms, signal transduction, cell differentiation, apoptosis, cell metabolism, ion transport regulation, and other biological functions. CONCLUSIONS: Taken together, our results showed differentially expressed miRNAs in T2D and prediabetes. Plasma hsa-miR-1249, hsa-miR-320b, and hsa-miR-572 may serve as novel biomarkers for diagnosis and potential targets for the treatment for prediabetes and T2D.

[Clonal plasticity of Iris japonica under different soil and canopy conditions in subtropocal evergreen broad-leaved forest].

An investigation was made on the growth indices of Iris japonica growing on the yellow soil and Karst soil within a subtropical evergreen broad-leaved forest and in the forest gaps, aimed to approach the clonal plasticity of I. japonica in heterogeneous habitats. The results showed that the ramet height and diameter and the rhizome diameter of I. japonica were significantly higher in yellow soil habitat than in Karst soil habitat, while the individual density was in adverse. Light had significant effects on rhizome diameter, but soil condition had lesser effects under the same light environment. Within the forest of Karst soil habitat, the bud number and flower number of I. japonica were zero, possibly due to the double pressure from soil quality and light environment for the balance between resources uptake and energy assignment and for the sustaining of growth. In a certain extent, I. japonica in yellow soil habitat tended to K strategy via decreasing the individual number for improving competition to adapt environment, while I. japonica in Karst soil habitat tended to r strategy via increasing individual number for sustaining competition capability.