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Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene panels that can offer "clinically actionable results", which provide diagnostic and prognostic insights. They also advise against indiscriminate family screening after finding variants of uncertain significance (VUS) and recommend collaboration among multidisciplinary teams for an accurate variant pathogenicity assessment. This article presents an innovative "cardiogenetic clinic" approach involving cardiologists and medical geneticists to provide genetic testing and family screening. This study attempts to improve the diagnostic process for suspected genetic cardiomyopathies; this includes direct patient recruitment during cardiology appointments, NGS analysis, and combined consultations with cardiologists and geneticists to assess the results and screen the families. The study cohort of 170 patients underwent genetic testing, which identified 78 gene variants. Positive results (C4 or C5 variants) occurred in 20 (19.8%) cases, with rates varying by cardiomyopathy phenotype, while 57 (73.1%) of the variants found were classified as C3-VUS, causing a significant management issue. This model shortened the time to results, increased patient adherence, and improved patients' diagnoses. Family screening was pondered depending on the relevance of the detected variants, showing this method's potential to impact patient management. [ABSTRACT FROM AUTHOR]

Iran has different environmental conditions due to specific geographical. Therefore, exploring essential oil and flavonoids components among different medicinal may be caused discoveries about valuable components. The present study aimed to study flavonoids profile and essential oils composition of four Lamiaceae species i.e. Stachys lavandulifolia Vahl, Teucrium polium L., Thymus daenensis Čelak., and Ziziphora clinopodioides Lam. from Oshtorankoh located on Zagros Mountains, Iran. The plants were collected during 2014-2015 and were identified using available references. A chemical study using two-dimensional paper chromatography (2-DPC) and thin-layer chromatography (TLC) showed that the four studied species contained flavone C and C-/O glucosides and flavonoid sulfates. The result of the present study revealed that T. polium had high levels of many flavonoids such as apigenin, genistein, isorhamnetin, kaempferol, quercetin, rutin, andvitexin compared to the other studied plants. According to the results of GC/MS analysis, S. lavandulifolia was rich in α-pinene (21.16%) and 1,8-cineol (16.95%), T. polium in α-pinene (12.21%) and sabinene (9.55%), T. daenensis in γ-Terpinene (36.98%) and p-Cymene (26.87%), and Z.clinopodioides in piperitone (16.84%) and 1,8-cineol (16.11%) components. [ABSTRACT FROM AUTHOR]

This study aimed to optimize embryogenic callus formation and transformation of the CP57-614 sugarcane variety using particle bombardment. Young leaf explants were cultured on modified Murashige and Skoog (MS) medium containing different concentrations of 2,4-dichlorophenoxyacetic acid (2,4-D; auxin) (1, 2, and 4 mg L-1) and two Dicamba concentrations (4 and 6 mg L-1). The highest callus induction rate was achieved with 2 mg L-1 of 2,4-D. Subsequently, particle bombardment was used to introduce genetic constructs containing the uidA reporter gene driven by three promoters (CaMV35S, ubiquitin, and actin1) into the embryogenic calli. We assessed the impact of various biological, physical, and DNA parameters, including bombardment pressure, target distance, particle size, DNA amount, and osmotic pretreatment, through histochemical GUS assay to quantify blue spots. Results showed that the most effective combination involved bombardment at 1100 psi, 6 cm target distance, 1 μm gold particles coated with 1 μg DNA, under a vacuum of 25 inHg. Additionally, the best osmotic pretreatment utilized a solution containing 0.2 M sorbitol and 0.2 M mannitol. Notably, the construct driven by the ubiquitin promoter resulted in the highest transient expression of the uidA gene, suggesting its superiority for gene expression in this system. [ABSTRACT FROM AUTHOR]

Salvia officinalis L. (sage) is a valuable medicinal plant with various secondary metabolites. These compounds are usually inducible by different stress conditions, for example, water‐deficit stress. Therefore, cost‐effective and eco‐friendly approaches for alleviating water‐deficit stress in medicinal plant crops are in high demand. Polyamines (PAs), such as putrescine, have a significant effect on improving crop yield under water‐deficit stress conditions. Therefore, a factorial experiment based on a completely randomized design using two factors and three replications was conducted. Treatments included irrigation regime (IR) and timing of IR after foliar application of putrescine (TIRFP) as follows: irrigation after depletion of 20%, 40%, 60%, and 80% available soil water (ASWD). TIRFP was performed at 0, 24, 48, and 72 h. The treatments affected morphological, physiological, molecular, and biochemical attributes. TIRFP of 72 h under IR of 80% ASWD improved the leaf area index, relative water content, antioxidant enzyme activities, and total radical scavenging capacity compared with the controlled treatment. The results of real‐time quantitative polymerase chain reaction (qRT‐PCR) and gas chromatography/mass spectrometry (GC/MS) analysis showed the highest level of sabinene synthase (SS) and bornyl diphosphate synthase (BPPS), the highest contents of 1,8‐cineole, β‐thujone, and camphor appeared in plants after 72 h of TIRFP under IR of 80% ASWD. The findings of this study confirm the protective role of putrescine against water stress. In conclusion, putrescine foliar application allows for balanced water retention. It preserves antioxidant capacity resulting in efficient photosynthesis and the restricted risk of oxidative damage under water‐deficit stress. It improves sage plants' physiological attributes and valuable monoterpenes components of essential oil. Core Ideas: Putrescine could be applied as a potential raiser to enhance monoterpene synthesis.The effects of timing of irrigation regime after foliar application of putrescine (TIRFP) under irrigation regimes were studied.The highest amounts of leaf area index and antioxidant enzymes activities were observed at TIRFP of 72 h under IR of 80% available soil water (ASWD).The most contents of 1, 8‐cineole, β‐thujone, and camphor were detected at TIRFP of 72 h under IR of 80% ASWD. [ABSTRACT FROM AUTHOR]

Understanding the cracking resistance of ballast rock materials is key parameter for designing the ballast rock crushing machines or estimating the onset of fracture in the ballast rocks of railway tracks. In this research, mode I fracture toughness (KIc) and mode I fracture energy (GIc) values were determined experimentally for the red andesite ballast rock obtained from the Shahryar mine (Tehran province). Two disc-shaped samples subjected to three-point bending, namely semi-circular bend (SCB) and edge-notched disc bend (ENDB) are selected for conducting the tests and for each specimen 14 replicates were tested. Although a natural scatter was observed for the experimental results the failure probability curves of SCB and ENDB samples showed meaningful difference demonstrating the effect of testing method on mode I fracture behavior. Two- and three-parameter Weibull distribution curves were fitted to the fracture toughness and fracture energy results of andesite ballast rock tested with both specimens. By relating the Weibull distribution curves obtained for the ENDB and SCB samples to their geometries, the statistical fracture behavior curves of SCB were estimated theoretically in terms of the Weibull statistical curves of the ENDB specimen. In addition, the relationship between the statistical fracture toughness and fracture energy data obtained from the tested SCB and ENDB specimens made of andesite ballast rock was examined and it was shown that these two parameters are correlated well to each other as suggested by the framework of linear elastic fracture mechanics. Highlights: Two different mode I configurations were used for rock fracture studies. The effect of specimen geometry on KIc and GIc of andesite ballast rock was studied using Weibull statistical analysis. Two and three-parameter Weibull distribution curves were obtained for the fracture toughness and fracture energy results. The relationship between fracture toughness and strain energy release rate of tested rock samples was investigated statistically. [ABSTRACT FROM AUTHOR]

Introduction Efficient genomic RNA extraction is a basic requirement of molecular biology and the primary step in the study of gene expression. Woody plants are problematic due to the presence of polyphenolics, polysaccharides and other compounds that bind or co-precipitate with the RNA. The present study is to compare different methods of extracting high-quality total RNA in Thomson navel orange. Citrus is one of the most strategic fruits of Iran, finding an efficient and low-cost method is important for executive and molecular works. Materials and Methods Plant materials used to extract total RNA were collected from two different parts of Thomson navel orange peel (consisting of both flavedo and albedo) and pulp from Ghaemshahr Horticultural Research Station, Mazandaran in 2020. Fruits were frozen in liquid nitrogen after sampling and were stored at -8O°C until used. These samples were transferred to the laboratory department of horticultural science and engineering, Gorgan where the samples were applied to analyze the molecular expriment. For this study three methods including of: Trizol, Non-column Denazist and RNX-Plus™ were evaluated for total RNA extraction. In order to show the quality and quantity of RNA, were assessed on 1% agarose gel and using a nanodrop spectrophotometer with 230, 260 and 280 wavelength. Results were analyzed using a completely randomized design with three replicates, Duncan test with a significance level of 0.05 using SAS 9.0 software. Results and Discussion The result showed a distinct 28S and 18S rRNA bands visible on an agarose gel. The RNA integrity was assessed by the sharpness of ribosomal RNA bands. Also by using this protocols, the absorbance ratio at 260/280 was ranged between 1.80 - 1.93 which indicated there were no protein in the extracted RNA. A ratio A260/A280 ratio from 2.0 to 2.14 indicated a lack of polysaccharides and phenol contamination. Trizol method, which was significantly different than compared to other methods. This protocol was successfully applied to isolate total RNA from the organ of two section fruit. Generally, the samples with a ratio in the range of ~ 1.9 to 2 revealed high purity of the extracted RNA using Trizol and the average concentration of RNA ranged from 379.90 (ng/μl) of orange peel and 352.15 (ng/μl) of orange pulp, respectively. And concentration was observed in Non-column Denazist method which treated with the lowest concentration (263.10 ng/μl) of orange pulp. Conclusion The Trizol method was the best choice for extraction of high-quality total RNA. In this respect method represented the highest RNA yield and purity from various samples (peel and pulp) of citrus. However, generally peel samples (flavedo and albedo) produced high concentration total RNA. [ABSTRACT FROM AUTHOR]