Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants

Background: Thalassemia is the most prevalent monogenic disorder caused by an imbalance between the α- and β-globin chains as a result of pathogenic variants in the α- or β-globin genes. Novel or complex structural changes in globin genes are major hurdles for genetic consulting and prenatal diagnosis.Methods: From 2020 to 2022, genetic analysis was performed on 1,316 families suspected of having children with thalassemia major, including 42 pregnant couples suspected of being thalassemia carriers with rare variants. Multiple techniques including multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing, targeted next-generation sequencing, and single-molecule real-time (SMRT) sequencing were used to diagnose rare thalassemia.Results: The rate of prenatal diagnosis for rare thalassemia variants was 3.19% (42/1,316). The most prevalent alleles of α- and β-thalassemia are Chinese Gγ(Aγδβ)0and -- THAI deletion. In addition, ten rare complex genotypes include one Chinese Gγ(Aγδβ)0 deletion combined with HBG1-HBG2 fusion, two rare deletions at HBB gene (hg38, Chr11: 5224211-5232470, hg38, Chr11: 5224303-5227790), one complete 7,412 bp fusion gene for anti-Lepore Hong Kong, two complex rearrangements of the α-globin gene cluster, two novel duplications, and two rare large deletions in the α-globin gene cluster.Conclusion: Accurate gene diagnosis for probands with combined molecular biology techniques is the key to prenatal diagnosis of rare thalassemia

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

Background: The process of generating raw genome sequence data continues to become cheaper, faster, and more accurate. However, assembly of such data into high-quality, finished genome sequences remains challenging. Many genome assembly tools are available, but they differ greatly in terms of their performance (speed, scalability, hardware requirements, acceptance of newer read technologies) and in their final output (composition of assembled sequence). More importantly, it remains largely unclear how to best assess the quality of assembled genome sequences. The Assemblathon competitions are intended to assess current state-of-the-art methods in genome assembly. Results: In Assemblathon 2, we provided a variety of sequence data to be assembled for three vertebrate species (a bird, a fish, and snake). This resulted in a total of 43 submitted assemblies from 21 participating teams. We evaluated these assemblies using a combination of optical map data, Fosmid sequences, and several statistical methods. From over 100 different metrics, we chose ten key measures by which to assess the overall quality of the assemblies. Conclusions: Many current genome assemblers produced useful assemblies, containing a significant representation of their genes and overall genome structure. However, the high degree of variability between the entries suggests that there is still much room for improvement in the field of genome assembly and that approaches which work well in assembling the genome of one species may not necessarily work well for another

In situ fabrication of noble metal nanoparticles modified multiwalled carbon nanotubes and related electrocatalysis

Using multiwalled carbon nanotubes (MWNTs) as templates, noble metal (Au, Ag, Pt or Pd) nanoparticles (NPs) were fabricated in situ by electrochemistry with a diameter of 40-60 nm. Further, catalytic behaviors of these composite materials were investigated. Experiments showed that such carbon nanotubes decorated with Pd NPs modified glassy carbon electrodes exhibited higher electrocatalytic ability to some molecules such as evolution of hydrogen, reduction of oxygen and oxidation of ascorbic acid. Atomic force microscopy, X-ray photoelectron spectroscopy and cyclic voltammetry were used to characterize the film formation and their properties

A novel sensor based on Fe3O4 nanoparticles–multiwalled carbon nanotubes composite film for determination of nitrite

A novel nitrite sensor was constructed via electropolymerization of l-cysteine on the multiwalled carbon nanotubes and then immobilization of cationic poly(diallyldimethylammonium chloride) coated Fe3O4 nanoparticles through electrostatic interaction at glassy carbon matrix. Under the optimized conditions, the obtained sensor exhibited good electrocatalytic activity for the oxidation of nitrite, and the peak current of nitrite increased linearly with its concentration from 7.49 × 10−6 to 3.33 × 10−3 mol/L (R = 0.9998) with the detection limit of 8.46 × 10−7 mol/L (S/N = 3). Moreover, the sensor exhibited good sensitivity, stability and repeatability with potential applications

Modelling technological bias and productivity growth: a case study of China’s three urban agglomerations

The technological progress in favor of energy conservation and emission reduction will help increase green total factor productivity and thus mitigate China’s environmental problems. This study adopts the data envelopment analysis (DEA) to measure the total factor productivity (TFP) index of the Chinese three urban agglomerations from 2005 to 2014, and the reasons for its changes are also analyzed. Furthermore, the biases of technological progress from two perspectives of inputs and outputs (including the undersirable output, measured by  emissions) are estimated. Main results are: (i) During the sample period, the TFP of the three urban agglomerations continues to increase, and the main driving force is technological change. (ii) From the perspective of inputs, the Beijing-Tianjin-Hebei prefers to use electricity, whereas the Pearl River Delta and the Yangtze River Delta urban agglomerations tend to use capital and save labor. (iii) From the perspective of outputs, the technological progress of the three major urban agglomerations is significantly biased toward GDP with a slight difference among the three urban agglomerations, which means its technological progress is conducive to reduce  intensity, symbolizing low carbon development. From this point of view, their economic growth shows a low-carbon trend

B cell activation factor (BAFF) induces inflammation in the human fallopian tube leading to tubal pregnancy

Abstract Background Tubal pregnancy is recognized as one of the most common ectopic pregnancy types. Salpingitis may result in tubal pregnancy by causing fallopian tube occlusion and hydrosalpinx. B cell activation factor (BAFF) is a proinflammatory cytokine that helps regulate both innate and adaptive immune responses. Our previous study firstly showed that BAFF immunostaining appeared on the cellular membrane and in the cytoplasm of tubal epithelial cells, and both BAFF protein and mRNA in human inflamed fallopian tubes had higher expression levels than those in normal fallopian tubes. This study aimed to elucidate the association between the expression of BAFF gene and the inflammation in the human fallopian tube leading to tubal pregnancy. Methods We examined 70 patients undergoing salpingectomy for salpingitis (n = 35) and tubal pregnancy (n = 35). Twenty patients with benign uterine diseases undergoing complete hysterectomy and salpingectomy were recruited into control group. BAFF mRNA and protein in tissue samples were detected by qPCR and Western blotting methods. Furthermore, serum levels of BAFF, tumor necrosis factor-α (TNF-α) and interleukin (IL)-6 were measured using ELISA kits. Results We found statistically significantly elevated expressions of BAFF mRNA or protein in whole tissue samples, and serum levels of BAFF, TNF-α and IL-6 in whole blood samples from patients with salpingitis and tubal pregnancy, in comparison to the control group. Conclusion Based on the results, high expression of BAFF gene might induce inflammation in the human fallopian tube, suggesting its possible role in the tubal pregnancy process

The comparison of health status between male and female medical radiation workers in China

To assess the health statue of chronically exposed Chinese medical radiation workers. A cross-sectional study of 530 medical radiation workers in a city of China was conducted to document the health status and the monitored annually absorbed doses. Long-term and low-dose radiation exposure can affect a number of health indicators in the individuals, which covered the cardiovascular system, hematologic system, ophthalmology, liver and kidney's functions, chromosome aberration and micronucleus. The differences in the health status between male and female individuals were associated with job types and exposed years of service. The monitored doses of individuals were lower than the limit value of the national standard. The health status in chronically exposed individuals demonstrated some gender difference associated with length of exposure and work type. This study provides some evidence to understand the health status of medical radiation workers in China and have the potentially to inform screening and clinical diagnosis