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Background: Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data. Materials and Methods: A total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count and reverse dot blot (RDB) gene chip for thalassemia. Results: 1182 cases of suspected thalassemia carriers with microcytosis (MCV<82 fL) were found by CBC count, and were tested by RDB gene chip to reveal a total of 594 mutant chromosomes, including 433 α-thalassemia mutant chromosomes and 172 β-thalassemia mutant chromosomes. Our results indicated a higher prevalence of thalassemia with the heterozygote frequency of 9.49% in southern Jiangxi province, whereas the low frequency was found in middle (3.90%) and northern Jiangxi (2.63%). Conclusions: Based on the epidemiological data, the estimated numbers of pregnancies in Jiangxi province in which the fetus is at risk for β-thalassemia major or intermedia, Bart's hydrops fetalis and Hb H disease are 34 (95% CI, 16 to 58), 79 (95% CI, 50 to 114) and 39 (95% CI, 27 to 58) per year, respectively. We suggested that prevention network of thalassemia should be established, especially in high prevalent southern Jiangxi (Hakka Han), including establishment of thalassemia database collection, hematological analysis laboratories, genetic counselling clinics, prenatal diagnosis centers and neonatal screening centers. [ABSTRACT FROM AUTHOR]

Recently, Bi 2 S 3 has garnered significant interest in the thermoelectric field due to its abundant and low-toxicity constituents. Nevertheless, pure Bi 2 S 3 material has not been utilized in thermoelectric applications because of its low electrical conductivity. This study presents the fabrication of the Bi 0.33 (Bi 6 S 9)Br-doped Bi 2 S 3 bulk samples with high electrical conductivity and mechanical performance via the melting method in conjunction with spark plasma sintering technology. The increased electron concentration is attributed to the replacement of S2− by Br− and the introduction of extra Bi in the lattice. At 323 K, the electrical conductivity of the Bi 2 S 3 + 3 wt% Bi 0.33 (Bi 6 S 9)Br sample increased to 208 Scm−1, signifying a 3-order-of-magnitude enhancement compared to the pure sample. The enhanced electrical conductivity led to the optimization of the electrical transport properties. At 573 K, the Bi 2 S 3 + 2 wt% Bi 0.33 (Bi 6 S 9)Br bulk sample achieved a peak power factor value of 481 μWm−1K−2, which is four times higher than that of the pure sample. Notably, the low lattice thermal conductivity of the Bi 2 S 3 + 5 wt% Bi 0.33 (Bi 6 S 9)Br sample was 0.56 W−1 m−1K−1 at 673 K. Given the significantly enhanced electrical transport properties and suppressed thermal conductivity, the Bi 2 S 3 + 2 wt% Bi 0.33 (Bi 6 S 9)Br sample achieved a peak ZT value of 0.45 at 673 K and a high ZT ave value of 0.33 from 373 to 673 K. Compared to the pure Bi 2 S 3 sample, these values are 5 times and 3 times higher, respectively. Such advancements can be implemented in the domain of power generation. Additionally, the mechanical properties of the sample exhibited substantial enhancement, and the average hardness of the 2 wt% Bi 0.33 (Bi 6 S 9)Br-doped sample increased from 2.73 GPa of the pure sample to 3.03 GPa. This novel strategy of dual point defects modulation provides a new pathway to enhance the thermoelectric performance of Bi 2 S 3 and other material systems. [Display omitted] • The Bi 0.33 (Bi 6 S 9)Br doped Bi 2 S 3 bulk samples are fabricated by solid states reaction combined with the SPS technology. • A high power factor (481 μW m−1 K−1) were obtained at 573 K. • The mechanical properties of the doped sample showed significant improvement. • A peak ZT value of∼0.45 at 673 K and ZT ave value of∼0.33 from 373 to 673 K were obtained. [ABSTRACT FROM AUTHOR]

β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China. High-resolution melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. However, there was no systemic study on the diagnostic capability of HRM to identify β-thalassemia. Here, we used an improved HRM method to screen and type 12 common β-thalassemia mutations in Chinese, and the rapidity and reliability of this method was investigated. The whole PCR and HRM procedure could be completed in 40 min. The heterozygous mutations and 4 kinds of homozygous mutations could be readily differentiated from the melting curve except c.-78A>G heterozygote and c.-79A>G heterozygote. The diagnostic reliability of this HRM assay was evaluated on 756 pre-typed genomic DNA samples and 50 cases of blood spots on filter paper, which were collected from seven high prevalent provinces in southern China. If c.-78A>G heterozygote and c.-79A>G heterozygote were classified into the same group (c.-78&79 A>G heterozygote), the HRM method was in complete concordance with the reference method (reverse dot blot/DNA-sequencing). In a conclusion, the HRM method appears to be an accurate and sensitive method for the rapid screening and identification of β-thalassemia mutations. In the future, we suggest this technology to be used in neonatal blood spot screening program. It could enlarge the coverage of β-thalassemia screening program in China. At the same time, its value should be confirmed in prospectively clinical and epidemiological studies. [ABSTRACT FROM AUTHOR]

Abstract Objective: We aimed to investigate whether vascular endothelial growth factor (VEGF) influences apolipoprotein M (ApoM) expression and pre-[beta]-high-density lipoprotin (HDL) formation, and whether forkhead box A2 (Foxa2) and Nur77 are involved in this process. Methods and Results: We analyzed the serum VEGF concentrations of 264 adults who underwent a medical checkup and found that VEGF concentration was positively correlated with serum triglyceride, total cholesterol, LDL cholesterol (LDL-C), very-low-density lipoprotein cholesterol (VLDL-C), and ApoB concentrations, but was negatively correlated with serum high-density lipoprotein cholesterol (HDL-C) and ApoM concentrations. We further investigated the effects of VEGF on ApoM expression and pre-[beta]-HDL formation, and the mechanisms responsible, in HepG2 cells and mouse primary hepatocytes. VEGF markedly downregulated ApoM expression and pre-[beta]-HDL formation. At the same time, expression of Foxa2 was also inhibited, whereas expression of Nur77 was increased by treatment with VEGF. Furthermore, small interfering (si) RNA knockdown of Foxa2 made the downregulation of VEGF on ApoM expression and pre-[beta]-HDL formation even more obvious. In addition, siRNA knockdown of Nur77 significantly compensated for the inhibitory effect of VEGF on Foxa2 expression, whereas the Nur77 agonist cytosporone B led to the downregulation of Foxa2 expression more significantly than VEGF. Moreover, overexpression of a Nur77 transgene in C57BL/6 mice resulted in decreased serum ApoM and pre-[beta]-HDL levels, whereas si-Nur77-treated mice displayed upregulated serum ApoM and pre-[beta]-HDL levels. Conclusion: These results provide evidence that VEGF may first downregulate expression of Foxa2 by enhancing Nur77 activity and then decrease expression of ApoM and pre-[beta]-HDL formation. Therefore, our study may be useful in understanding the critical effect of VEGF in the pathogenesis of atherosclerosis. [ABSTRACT FROM AUTHOR]

Abstract: Thalassemia is the commonest inherited autosomal recessive disorders of hemoglobin in southern China. We developed and evaluated a reverse dot blot (RDB) assay combined with flow-through hybridization technology platform for the rapid and simultaneous identification of 5 types of α-thalassemia and 16 types of β-thalassemia common in Chinese. Reliable genotyping of wild-type and thalassemic genomic DNA samples was achieved by means of a gene chip on which allele-specific oligonucleotide probes were immobilized on a nylon membrane. This method involved two multiplex PCR amplification systems of α-thalassemia and β-thalassemia and one time of hybridization. The whole procedure starting from blood sampling to the identification of thalassemia genotype required less than 4h. The diagnostic reliability of this reverse dot blot assay was evaluated on 427 samples (387 cases of thalassemia and 40 healthy persons) by using direct DNA sequence analysis and gap-PCR in a blind study. These samples included 377 cases of blood, 7 cases of amniotic fluid, 18 cases of chorionic villus, and 25 cases of cord blood. The RDB gene chip was in complete concordance with the reference method. The reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify common thalassemia genotypes in the Chinese population. [Copyright &y& Elsevier]