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Abstract Background The evolutionally conserved homeobox transcription factor NKX2-5 has been at the forefront in the field of cardiac biology, providing molecular insights into the mechanisms of cardiac development and disease. This homodomain transcription factor is a central regulator of cardiac development and is expressed in both the first and second heart fields (FHF and SHF). Mutations in the NKX2-5 gene have been linked to sporadic cases of congenital heart disease (CHD), making it a significant target for research and study. While several studies have been conducted on Caucasian populations, there is a dearth of knowledge on the effects of NKX2-5 gene mutations in other settings, underscoring the need for further investigation. Due to differences in geographical and ancestral origin, we hypothesize that mutations may vary across different populations. Understanding the genetic factors that cause CHD is essential for providing effective genetic counseling and developing strategies for risk reduction. Additionally, identification of NKX2-5 mutations in individuals with CHDs is crucial because patients with CHDs are at a higher risk of progressive conduction disease and sudden cardiac death, and genetic information is taken into consideration while making decisions regarding pacemakers and implantable cardiac defibrillators. To determine the risk of congenital heart disease among infants, we conducted a study where we sequenced the exon 1 and exon 2 of NKX 2.5 in patients with sporadic CHDs, with the aim of identifying mutations in the NKX2.5 gene. Results In this study, a novel frame-shift disease-causing mutation was discovered in patients with atrial-ventricular septal defect. The mutation, identified as c95_95 del A; cDNA.369–369 delA; g 369–369 delA, resulted in the substitution of phenylalanine to leucine (F295L), which in turn caused a truncated NKX2.5 protein. In addition, a non-synonymous mutation, g 316C > T; cDNA 316C > T leucine to arginine (L37R) substitution, was found in a patient with the tetralogy of Fallot, affecting protein function. Furthermore, a novel non-synonymous mutation identified as g 2295–2298; cDNA 755–758 delins AGGG, was predicted by mutation taster to be disease-causing in a ventricular septal defect. It is worth noting that none of these mutations were found among the control subjects, highlighting their potential significance in the pathogenesis of these cardiac defects. Conclusion Mutations in the NKX2.5 gene are associated with congenital heart diseases and provide molecular insight into the pathogenesis of congenital heart diseases. We recommend that patients with NKX2.5 mutations have periodic screening for cardiac conduction abnormalities and be evaluated for potential implanted cardiac defibrillators and pacemakers.

Abstract Objectives This study aims to use the three‐dimensional (3D) mixed‐reality model of liver, entailing complex intrahepatic systems and to deeply study the anatomical structures and to promote the training, diagnosis and treatment of liver diseases. Methods Vascular perfusion human specimens were used for thin‐layer frozen milling to obtain liver cross‐sections. The 104‐megapixel‐high‐definition cross sectional data set was established and registered to achieve structure identification and manual segmentation. The digital model was reconstructed and data was used to print a 3D hepatic model. The model was combined with HoloLens mixed reality technology to reflect the complex relationships of intrahepatic systems. We simulated 3D patient specific anatomy for identification and preoperative planning, conducted a questionnaire survey, and evaluated the results. Results The 3D digital model and 1:1 transparent and colored model of liver established truly reflected intrahepatic vessels and their complex relationships. The reconstructed model imported into HoloLens could be accurately matched with the 3D model. Only 7.7% participants could identify accessory hepatic veins. The depth and spatial‐relationship of intrahepatic structures were better understandable for 92%. The 100%, 84.6%, 69% and 84% believed the 3D models were useful in planning, safer surgical paths, reducing intraoperative complications and training of young surgeons respectively. Conclusions A detailed 3D model can be reconstructed using the higher quality cross‐sectional anatomical data set. When combined with 3D printing and HoloLens technology, a novel hybrid‐reality navigation‐training system for liver surgery is created. Mixed Reality training is a worthy alternative to provide 3D information to clinicians and its possible application in surgery. This conclusion was obtained based on a questionnaire and evaluation. Surgeons with extensive experience in surgical operations perceived in the questionnaire that this technology might be useful in liver surgery, would help in precise preoperative planning, accurate intraoperative identification, and reduction of hepatic injury.

Context. Overuse of N fertiliser in vegetable cropping systems is known to release of nitric and nitrous oxide to the atmosphere in China. Optimisation of N fertilisation regimes has the potential to mitigate NO and [N.sub.2]O emissions from these N-rich systems. Aims. We investigated the effects of different N fertilisation regimes on NO and [N.sub.2]O emissions, and vegetable yields, with particular efforts to estimate annual direct emission factors of NO and [N.sub.2]O under different N fertilisation regimes in greenhouse vegetable fields. Methods. Annual NO and [N.sub.2]O fluxes were taken simultaneously using the static chamber-based method from a greenhouse vegetable system in south-east China with four N fertiliser treatments: (I) no N fertiliser (control); (2) chemical N fertiliser application (CF); (3) organic N fertiliser application (OF); and (4) organic-chemical mixed N fertiliser application (MF). Key results. N fertilisers significantly increased NO and [N.sub.2]O emissions. Direct emission factors of N fertiliser for NO and [N.sub.2]O were the largest for MF, with an average of 0.99% and 0.67%, respectively. Vegetable yields were only significantly enhanced under OF treatment. Conclusions. Relative to the use of chemical N fertiliser, the application of organic-chemical mixed N fertiliser showed not to be effective for mitigating NO and [N.sub.2]O emissions. Instead, sole application of organic N fertiliser was a viable option to enhance vegetable yields but without increasing NO and [N.sub.2]O emissions in greenhouse vegetable systems. Implications. Substituting the use of chemical N fertiliser with organic N fertiliser input could benefitvegetable production but without stimulating NO and [N.sub.2]O emissions from vegetable cropping systems in sub-tropical China. Keywords: emissions factor, greenhouse vegetable field, nitric oxide, nitrous oxide, NO/[N.sub.2]O ratio, organic fertiliser, vegetable yields, WFPS., Introduction Nitric (NO) and nitrous oxide ([N.sub.2]O) are two trace gases that play critical roles in global nitrogen cycle. Both NO and [N.sub.2]O are involved in atmospheric photochemistry processes and [...]

Deep sowing is a traditional method for drought resistance in maize production, and mesocotyl elongation is strongly associated with the ability of maize to germinate from deep soil. However, little is known about the functional genes and mechanisms regulating maize mesocotyl elongation. In the present study, we identified a plant‐specific SIMILAR TO RCD‐ONE (SRO) protein family member, ZmSRO1e, involved in maize mesocotyl elongation. The expression of ZmSRO1e is strongly inhibited upon transfer from dark to white light. The loss‐of‐function zmsro1e mutant exhibited a dramatically shorter mesocotyl than the wild‐type in both constant light and darkness, while overexpression of ZmSRO1e significantly promoted mesocotyl elongation, indicating that ZmSRO1e positively regulates mesocotyl elongation. We showed that ZmSRO1e physically interacted with ZmbZIP61, an ortholog of Arabidopsis ELONGATED HYPOCOTYL 5 (HY5) and showed a function similar to that of HY5 in regulating photomorphogenesis. We found that ZmSRO1e repressed the transcriptional activity of ZmbZIP61 toward target genes involved in the regulation of cell expansion, such as ZmEXPB4 and ZmEXPB6, by interfering with the binding of ZmbZIP61 to the promoters of target genes. Our results provide a new understanding of the mechanism by which SRO regulates photomorphogenesis and highlight its potential application in deep sowing‐resistant breeding. [ABSTRACT FROM AUTHOR]

A systematic study was conducted on the impact of annealing treatments on the microstructure and properties of cold-rolled Ti50Ni47Fe3 alloys using optical microscopy, scanning electron microscopy, electron backscattered diffraction, and an electronic universal testing machine. It was found that, during low-temperature annealing (400 °C and 500 °C), the annealing time had no significant effect on the microstructure or properties of the Ti50Ni47Fe3 alloy. Only elongation (δ) increased with the increase in the annealing time, and the grain orientation of the Ti50Ni47Fe3 alloy was <111>//RD (rolling direction). When annealing at medium–high temperature (600 °C), as the annealing time increased, recrystallization and grain growth processes occurred, resulting in a continuous decrease in strength and an increase in δ. Meanwhile, it was found that the grain orientation of the cold-rolled Ti50Ni47Fe3 alloy changed from <111>//RD during the recovery and recrystallization processes to <101>//RD after the grain growth process. The orientation distribution function cross-section φ2 = 45° results indicate that the texture was mainly distributed along the γ orientation line (φ1 = 0~90°, Φ = 54.7°, φ2 = 45°). When annealed at 400 °C and 500 °C, the texture of the Ti50Ni47Fe3 alloys was (111)[uvw]. When the annealing treatment was 600 °C for 120 min, a (110)[uvw] texture occurred. Additionally, ductile fracture occurred in all specimens, and the crack origin was located on one side of the fracture surface, with obvious "Y"-shaped propagation. This article studied annealing treatments of cold-rolled Ti50Ni47Fe3 alloys, providing corresponding theoretical guidance for subsequent production applications. [ABSTRACT FROM AUTHOR]

Background: Diabetic peripheral neuropathy (DPN) constitutes a debilitating complication associated with diabetes. Although, the past decade has seen rapid developments in understanding the complex etiology of DPN, there are no approved therapies that can halt the development of DPN, or target the damaged nerve. Therefore, clarifying the pathogenesis of DPN and finding effective treatment are the crucial issues for the clinical management of DPN. Aims: This review is aiming to summary the current knowledge on the pathogenesis of DPN, especially the mechanism and application of inflammatory response. Methods: We systematically summarized the latest studies on the pathogenesis and therapeutic strategies of diabetic neuropathy in PubMed. Results: In this seminal review, the underappreciated role of immune activation in the progression of DPN is scrutinized. Novel insights into the inflammatory regulatory mechanisms of DPN have been unearthed, illuminating potential therapeutic strategies of notable clinical significance. Additionally, a nuanced examination of DPN's complex etiology, including aberrations in glycemic control and insulin signaling pathways, is presented. Crucially, an emphasis has been placed on translating these novel understandings into tangible clinical interventions to ameliorate patient outcomes. Conclusions: This review is distinguished by synthesizing cutting‐edge mechanisms linking inflammation to DPN and identifying innovative, inflammation‐targeted therapeutic approaches. [ABSTRACT FROM AUTHOR]

Abstract Background Congenital heart diseases (CHDs) are the most common congenital anomalies with an estimated prevalence of 8 in 1000 live births. CHDs occur as a result of abnormal embryogenesis of the heart. Congenital heart diseases are associated with significant mortality and morbidity. The damage of the heart is irreversible due to a lack of regeneration potential, and usually, the patients may require surgical intervention. Studying the developmental biology of the heart is essential not only in understanding the mechanisms and pathogenesis of congenital heart diseases but also in providing us with insight towards developing new preventive and treatment methods. Main body The etiology of congenital heart diseases is still elusive. Both genetic and environmental factors have been implicated to play a role in the pathogenesis of the diseases. Recently, cardiac transcription factors, cardiac-specific genes, and signaling pathways, which are responsible for early cardiac morphogenesis have been extensively studied in both human and animal experiments but leave much to be desired. The discovery of novel genetic methods such as next generation sequencing and chromosomal microarrays have led to further study the genes, non-coding RNAs and subtle chromosomal changes, elucidating their implications to the etiology of congenital heart diseases. Studies have also implicated non-hereditary risk factors such as rubella infection, teratogens, maternal age, diabetes mellitus, and abnormal hemodynamics in causing CHDs. These etiological factors raise questions on multifactorial etiology of CHDs. It is therefore important to endeavor in research based on finding the causes of CHDs. Finding causative factors will enable us to plan intervention strategies and mitigate the consequences associated with CHDs. This review, therefore, puts forward the genetic and non-genetic causes of congenital heart diseases. Besides, it discusses crucial signaling pathways which are involved in early cardiac morphogenesis. Consequently, we aim to consolidate our knowledge on multifactorial causes of CHDs so as to pave a way for further research regarding CHDs. Conclusion The multifactorial etiology of congenital heart diseases gives us a challenge to explicitly establishing specific causative factors and therefore plan intervention strategies. More well-designed studies and the use of novel genetic technologies could be the way through the discovery of etiological factors implicated in the pathogenesis of congenital heart diseases.

Dormancy is an adaptive trait which prevents seeds from germinating under unfavorable environmental conditions. Seeds with weak dormancy undergo pre‐harvest sprouting (PHS) which decreases grain yield and quality. Understanding the genetic mechanisms that regulate seed dormancy and resistance to PHS is crucial for ensuring global food security. In this study, we illustrated the function and molecular mechanism of TaSRO1 in the regulation of seed dormancy and PHS resistance by suppressing TaVP1. The tasro1 mutants exhibited strong seed dormancy and enhanced resistance to PHS, whereas the mutants of tavp1 displayed weak dormancy. Genetic evidence has shown that TaVP1 is epistatic to TaSRO1. Biochemical evidence has shown that TaSRO1 interacts with TaVP1 and represses the transcriptional activation of the PHS resistance genes TaPHS1 and TaSdr. Furthermore, TaSRO1 undermines the synergistic activation of TaVP1 and TaABI5 in PHS resistance genes. Finally, we highlight the great potential of tasro1 alleles for breeding elite wheat cultivars that are resistant to PHS. [ABSTRACT FROM AUTHOR]

The residential natural ventilation rates have a significant impact on indoor thermal comfort and air quality and building energy consumption. The characteristics of the indoor-outdoor temperature difference and wind pressure change over time, as well as the occupants' window opening behavior and the use of HVAC systems, resulting in the residential air change rate being dynamic with time. Many previous studies of residential ventilation measured the steady-state air change rates, which does not reflect the actual dynamic characteristics. In this study, a field measurement was conducted in a bedroom of one natural ventilation residential building in Beijing with continuously monitoring the CO2 concentration, indoor air temperature, and outdoor meteorological parameters for one year. Using the CO2 released by occupants as a tracer gas, the extended Kalman filter based on the Transient Mass Balance Equation (TMBE) was adopted to calculate the dynamic air change rate. This method can effectively filter the CO2 concentration measurement noise. The trend of air change rate with each influencing factor was analyzed. This study is expected to lay the foundation for future studies of dynamic air change rates in residential buildings.