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Analysis of voltage control using V2G technology to support low voltage distribution...
Marina Mattos
Joao Archetti

Marina Mattos

and 6 more

June 06, 2023
The decarbonization of the power generation and transport sector encourage the analysis of connection of , such as , to the electrical system, as well as the evaluation of their impact on smart cities. A better understanding of the negative impacts on the power systems will lead to propose mitigation measures and eventually revolutionize the way distributed generation works. This paper aims at modeling and evaluating the impact of EVs on a real distribution network. The energy system chosen operates at 60 Hz, 34,5 kV (Medium Voltage) and 0,208 kV (Low Voltage) and it is simulated using PSCAD/EMTDC. To reproduce realistic user consumption profiles, dynamic load profiles based on EV owners behaviour have been simulated. The technology is modeled to mitigate the impacts of high penetration of EVs by supporting the network from undervoltage. The results show the importance of active management in modern power systems, especially considering the increase in DER penetration expected for the coming years. This work shows the benefits of implementing V2G technology while highlighting the challenges involved in a real case.
Self-assembly multifunctional DNA Tetrahedron for Efficient Elimination of Antibiotic...
Yuhui Liao

Yuhui Liao

June 01, 2023
Antibiotic resistance is a major challenge in the clinical treatment of bacterial infectious diseases. Herein, we constructed a multifunctional DNA nanoplatform as a versatile carrier for bacteria-specific delivery of clinical antibiotic ciprofloxacin (CIP) and classic nanoantibiotic silver nanoparticles (AgNP). In our rational design, CIP was efficiently loaded in the self-assembly double-bundle DNA tetrahedron through intercalation with DNA duplex, and single-strand DNA-modified AgNP was embedded in the cavity of the DNA tetrahedron through hybridization. With the site-specific assembly of targeting aptamer in the well-defined DNA tetrahedron, the bacteria-specific dual-antibiotic delivery system exhibited excellent combined bactericidal properties. With enhanced antibiotic accumulation through breaking the out membrane of bacteria, the antibiotic delivery system effectively inhibited biofilm formation and promoted the healing of infected wounds in vivo. This DNA-based antibiotic delivery system provides a promising strategy for the treatment of antibiotic-resistant infections.
THE EFFECT OF TRANSCUTANEOUS AURICULAR VAGUS NERVE STIMULATION ON CYCLING ERGOMETRY A...
SEFA HAKTAN HATIK
MESUT ARSLAN

SEFA HAKTAN HATIK

and 3 more

June 01, 2023
It is aimed to examine the potential benefits and effects of the use of transcutaneous auricular vagus nerve stimulation for sporting purposes on recovery, fatigue and sportive performance level. This study 90 people between the ages of 18-23 participated. They were randomly divided into 3 groups as control, unilateral and bilateral vagus nerve stimulation (VSS). Cycling exercise was performed with maximum performance for 30 minutes under the same wattage load. Pulse, systolic and diastolic blood pressure, distance, pain, fatigue, lactic acid level and autonomic nervous system were evaluated before, after and at the end of the cycling exercise. In the comparison made within the group, there was a statistically significant difference between the data in all groups except for the distance covered parameter (p<0.05). When we compare the groups, in addition to the distance traveled in all groups, there is no statistically significant difference in the 1st day 1st measurement or 2nd measurement data of all parameters (p>0.05). When we compared the data according to the days, there was a statistically significant difference only between the pain and fatigue levels (p<0.05). When we compared the groups, it was found that bilateral VSS had favorable results compared to other applications. When we evaluated the data on a daily basis, similar results were obtained. We are of the opinion that it will be of maximum benefit for the athlete to be applied, especially during and after the half-time of the competition. Keywords: Vagus Nerve Stimulation, Transcutaneous, Auricular, Recovery, Cycling Ergometry
Improved cooperative Ant Colony Optimization for the solution of binary combinatorial...
Roberto Prado-Rodríguez
Patricia González

Roberto Prado-Rodríguez

and 3 more

June 01, 2023
Binary combinatorial optimization plays a crucial role in various scientific and engineering fields. While deterministic approaches have traditionally been used to solve these problems, stochastic methods, particularly metaheuristics, have gained popularity in recent years for efficiently handling large problem instances. Ant Colony Optimization (ACO) is among the most successful metaheuristics and is frequently employed in non-binary combinatorial problems due to its adaptability. Although for binary combinatorial problems ACO can suffer from issues such as rapid convergence to local minima, its eminently parallel structure means that it can be exploited to solve large and complex problems also in this field. In order to provide a versatile ACO implementation that achieves competitive results across a wide array of binary combinatorial optimization problems, we introduce a parallel multicolony strategy with an improved cooperation scheme to maintain search diversity. We evaluate our proposal (Binary Parallel Cooperative ACO, BiPCACO) using a comprehensive benchmark framework, showcasing its performance and, most importantly, its flexibility as a successful all-purpose solver for binary combinatorial problems.
Impact of steaming and roasting heat-treatment on physico-chemical, functional and di...
Xiaoyan Zhao
Xiangrui Ren

Xiaoyan Zhao

and 5 more

June 01, 2023
In order to develop the application of walnut kernel, the effect of steaming and roasting treatment on the physicochemical and functional properties of walnut kernel at 95 ºC for different time (15, 20 and 30 min) was investigated, and compared to those of untreated sample. Scanning electron microscopy suggested that heating treatment had a notable effect on the microstructure of walnut kernel, especially the steam heating. Both treatments significantly increased the enthalpy, vitro protein digestibility, viscosity, G′ and G″ (P < 0.05), the order from high to low was steaming > roasting > untreated. All samples contained the amounts of essential amino acids, the amino acid score (AAS) of samples by steaming was the highest compared to that of the untreated and roasting, and the only limiting amino acid of walnut kernel before or after heat treatment was lysine. In addition, the protein of walnut kernel after heating treatment with the extension of time contained more α-helix and random coil structures compared to the untreated sample, while β-sheet and β-turns structures decreased. Moreover, the thermal treatment could cause the changes of the water/oil holding capacity, foaming and emulsifying properties of walnut kernel flour. When there were differences between the results of steaming and roasting samples, it was concluded that the water played an important role in steaming. These results suggested that the thermal treatment as an effective approach could improve the physico-chemical, structural and functional properties of walnut kernel and be potentially applied in the food processing.
Perturbations in spike specific peripheral T follicular helper cells in SARS-CoV2 bre...
Soumya Sengupta
Shubham Shaw K

Soumya Sengupta

and 6 more

June 01, 2023
SARS-CoV2 infection has caused an increase in mortality and morbidity but with vaccination, the disease severity has significantly reduced. But with emergence of various variants of concerns (VOCs), the vaccine breakthrough infection has also increased. Here, we studied circulating spike specific T follicular response (cTfh) in infection naïve vaccinees and convalescent vaccinees (individuals who got delta breakthrough infection after 2 doses of BBV152 vaccine) to understand their response as they are the most crucial cells that are involve in vaccine mediated protection by helping in B-cell maturation. Our results indicated that cTfh cells in both the groups recognized wild type and delta spike protein but memory response to wild type spike was superior in infection naïve than in convalescent group. The cytokine response particularly IL-21 from cTfh cells was also higher in infection naïve than convalescent vaccines indicating a dampened cTfh response in convalescent vaccines after breakthrough infection. Also, there was positive correlation between IL-21 from cTfh cells and neutralizing antibodies of infection naïve vaccinees. Multiple cytokine analysis also revealed higher inflammation in convalescent vaccinees. Our data indicated necessity of third booster dose may be individual specific depending in the steady state functional phenotype of immune cells.
Lizard species evenness but not abundance tracks with avian predator occurrence acros...
Edita Folfas
D. Luke Mahler

Edita Folfas

and 2 more

June 01, 2023
Alternative ecological theories make divergent predictions about the relationship between predators and their prey. If predators exert top-down ecosystem control, increases in predation should diminish prey abundance, but can alternatively diminish or enhance community diversity of prey species. But if bottom-up ecosystem controls predominate, variation in predation should track underlying variation in prey diversity and abundance, which ultimately should reflect available energy. Past research, both across islands, and comparing islands with the mainland have frequently invoked the importance of predator occurrence in regulating lizard abundance and diversity, suggesting an important role of top-down control when predators are present. However, others have posited a stronger role of food limitation, either by way of competition or bottom-up forces. If top-down control predominates generally, then negative correlations between prey abundance and predator occurrence should emerge within islands, as well as across islands. Using survey data from eBird, we inferred landscape-level bird presence for all species on the islands of Jamaica and Hispaniola. By summing occurrence probability of known anole-predator birds we estimated total avian predation pressure and combined these estimates with anole community data from a mark-recapture study that spanned spatial and climatic gradients on both islands. Avian predators and anole lizards were both affected by climate, with total predation pressure, as well as anole abundance and species richness increasing with mean annual temperature. While predator occurrence was uncorrelated with anole abundance, it was positively correlated with anole species richness. These findings suggest that despite past research showing that islands with more predators tend to have lower abundances of prey, within islands, top-down forces of predation may not be strongly limiting community diversity. Instead, bottom-up forces linked with climate may be more important drivers of diversity in both lizards and their avian predators.
Effects of genetic variation on the structure of biological macromolecules
	Jingxuan  Kang
Siyu  Wei

Jingxuan Kang

and 16 more

June 01, 2023
Changes in the structure of biological macromolecules, such as RNA and protein, have an important impact on biological functions, and are even important determinants of disease pathogenesis and treatment. Some genetic variations, including copy number variation, single nucleotide variation, and so on, can lead to changes in biological function and increased susceptibility to certain diseases by changing the structure of biological macromolecules. Here, we reviewed the progress of research about the effects of genetic variation on the structure of macromolecules including RNAs and proteins, several typical methods and common tools, and the effect on several diseases. An online resource (http://www.onethird-lab.com/gems/) to support convenient retrieval of common tools is also built. Finally, the challenges and future development of effect prediction were discussed.
A keystone grazer drives saltmarsh carbon storage and recovery
Serina Wittyngham
David Johnson

Serina Wittyngham

and 3 more

June 01, 2023
A document by Serina Wittyngham. Click on the document to view its contents.
Establishing A Comprehensive Workflow for Extracting MS1 Isotope Distributions in LC-...
Frederique Vilenne
Annelies Agten

Frédérique Vilenne

and 4 more

June 01, 2023
The continuous advancements in LC-MS/MS proteomics over the past decades have paved the way for transformative changes in the field of medicine, particularly in the realms of preventive and personalized healthcare. Many new algorithms are evaluated on unknown proteomes and using databases with annotated MS2-spectra. When the research is focused on MS1-spectra, such databases are not available yet. Specifically, we propose a comprehensive workflow to extract MS1 isotope distributions from spectra, which we validated using a proteomics standard kit comprising known proteins at varying concentrations in duplicate. Our workflow incorporated a database search utilizing a state-of-the-art algorithm at 1% FDR. Through this approach, we investigated the impact of protein concentration on the probability of protein identification. Confidently identified PSMs were used to extract the MS1 isotope distributions through the proposed workflow. A total of 138.111 MS1 isotope distributions were extracted. Isotope distributions with 2 or more peaks were compared with their theoretical isotope distributions using the spectral angle. A median spectral angle of 0,101 and 0,0992 was observed in both samples indicating a high similarity. The findings from this study were compiled into a dataset which can potentially facilitate the development of novel tools with a focus on MS1 data.
First flare of seropositive inflammatory arthritis following denosumab: A case report
Yi Tong Aw
Oliver Walsh

Yi Tong Aw

and 1 more

June 01, 2023
First flare of seropositive inflammatory arthritis following denosumab: A case report
Influence of the mutation load on the genomic composition of hybrids between outcross...
Frédéric Fyon
Waldir Berbel Filho

Frédéric Fyon

and 1 more

June 01, 2023
Hybridization is a natural process whereby two diverging evolutionary lineages reproduce and create offspring of mixed ancestry. Differences in mating systems (e.g., self-fertilization and outcrossing) are expected to affect the direction and extent of hybridization and introgression in hybrid zones. Among other factors, selfers and outcrossers are expected to differ in their mutation loads. This has been studied both theoretically and empirically; however, conflicting predictions have been made on the effects mutation loads of parental species with different mating systems can have on the genomic composition of hybrids. Here we develop a multi-locus, selective model to study how the different mutation load built up in selfers and outcrossers as a result of selective interference and homozygosity impact the long-term genetic composition of hybrid populations. Notably, our results emphasize that genes from the parental population with lesser mutation load get rapidly over-represented in hybrid genomes, regardless of the hybrids own mating system. When recombination tends to be more important than mutation, outcrossers’ genomes tend to be of higher quality and prevail. When recombination is small, however, selfers’ genomes may reach higher quality than outcrossers’ genomes and prevail. Taken together these results provide concrete insights into one of the multiple factors influencing hybrid genome composition and introgression patterns in hybrid zones with species containing species with different mating systems.
Regenerative treatment of intrabony defects with Platelet Rich Fibrin - A Case Report
SUCHIT DANA

SUCHIT DANA

June 01, 2023
A document by SUCHIT DANA. Click on the document to view its contents.
Blow-up of solutions of a non-linear wave equation with fractional damping and infini...
 Mokhtar Kirane
Aounallah Radhouane

Mokhtar Kirane

and 1 more

June 01, 2023
We consider a non-linear wave equation with an internal fractional damping, a polynomial source and an infinite memory. Using the semi-group theory, we get the existence of a local weak solution. Moreover, we show under some conditions, local solutions may blow up a in finite time; this is achieved by constructing a suitable Lyapunov functional.
“Catch-up” therapy: Combining antidotal treatment with dermal application of AHA foll...
Eugenia Bloch-Shilderman
Uri Nili

Eugenia Bloch-Shilderman

and 4 more

June 01, 2023
Low volatility organophosphorus chemical warfare agents are cholinesterase inhibitors which rapidly absorb into the skin, leading to the formation of a dermal depot from which they slowly enter the bloodstream. This leads to sustained cholinergic hyperstimulation, which if untreated may lead to death. Current available countermeasures are not adequate to neutralize the agent residing in the dermal depot. Herein, we evaluated the efficacy of the potassium salt of acetohydroxamic acid (AHAK), as a potential “catch-up” therapy lotion intended to neutralize the dermal depot by penetrating the skin and decomposing it before it reaches the bloodstream. We compared the clinical outcome following skin surface decontamination combined with antidotal treatment, to that following the same antidotal treatment combined with dermal application of AHAK at the site of VX exposure, against percutaneous poisoning by a lethal neat dose of the low volatility nerve agent VX, in an unanesthetized swine model. Following skin surface decontamination and antidotal treatment, recurrence of intoxication signs and a prolonged recovery time was observed. In contrast, similar antidotal treatment combined with dermal application of AHAK significantly reduced intoxication signs recurrence and accordingly medical supervision duration needed, paralleled by a significantly faster recovery of whole blood ChE activity. An initial evaluation demonstrated the safety of prolonged whole-body AHAK application. By quickly penetrating the skin at the site of exposure and degrading the depot within it, the AHAK lotion may act as an efficient “catch-up” therapy against percutaneous poisoning by low volatility OP CWAs, thus improving the clinical outcome and reducing the burden on medical staff.
Cytoplasmic incompatibility associated with Wolbachia strains differing in the presen...
Jonathan Parrett
Józefina Wasilewska

Jonathan Parrett

and 5 more

June 01, 2023
Wolbachia is a widespread bacterial endosymbiont and its maternal transmission favours the selfish manipulation of host reproduction to increases in frequency. One such manipulation is cytoplasmic incompatibility (CI), where uninfected female’s eggs fail to hatch when fertilised by an infected male. If variation in infection rates and CI strength exist, Wolbachia induced CI may reduce gene-flow between populations. Here, we investigate CI between three populations of the bulb mite, Rhizoglyphus robini. Our crosses and PCR screening for Wolbachia of populations with and without antibiotic curing provide evidence that one population infected with Wolbachia induces and rescues CI: when males are mated to females either from an uninfected population or from another population infected with Wolbachia the majority of eggs fail to hatch, the latter suggesting that different Wolbachia strains infect different populations. By assembling draft Wolbachia genomes using a metagenome assembly approach, we find that Wolbachia assemblies are almost identical in aligned regions, but also find evidence for possible structural variation by performing coverage analysis. This structural variation appears to be linked phage regions and the presence/absence of “cif-like” genes, in a pattern consistent with the observed CI phenotype. Cif genes have previously be shown to be causal in inducing and rescuing CI in other species. The causal mechanisms for this structural variation remains unknown. Interestingly, we find a large number of hybrid males inheriting the CI inducing Wolbachia strain, do not themselves induce CI. We suggest this pattern is likely associated with host variant that acts to suppress CI.
Comparative analysis of permanent and transient domain-domain interactions in multi-d...
Ramanathan Sowdhamini
Swayam Prakash Das Sidhanta

Ramanathan Sowdhamini

and 2 more

June 01, 2023
Protein domains are structural, functional, and evolutionary units. These domains bring out the diversity of functionality by means of interactions with other co-existing domains and provide stability. Hence, it is important to study intra-protein inter-domain interactions from the perspective of types of interactions. Domains within a chain could interact over short timeframes or permanently, rather like protein-protein interactions (PPIs). However, no systematic study has been carried out between two classes, namely permanent and transient domain-domain interactions (DDIs). In this work, we studied 264 two-domain proteins, belonging to either of these classes and their interfaces on the basis of several factors, such as interface area and details of interactions (number, strengths, and types of interactions). We also characterized them based on residue conservation at the interface, correlation of residue motions across domains, its involvement in repeat formation, and their involvement in particular molecular processes. Finally, we could analyse the interactions arising from domains in two-domain monomeric proteins, and we observed significant differences between these two classes of domain interactions and a few similarities. This study will help to obtain a better understanding of structure-function and folding principles of multi-domain proteins.
Intercostal nerve cryoablation reduces opioid utilization after thoracotomy in childr...
Kathryn McElhinney L
Suhail Zeineddin

Kathryn McElhinney L

and 4 more

June 01, 2023
BACKGROUND: Intercostal nerve cryoablation (INC) has shown promise as an adjunct method for analgesia in adults undergoing thoracotomy but has yet to be widely used in children for this indication. We hypothesize that INC decreases opioid utilization in children undergoing thoracotomy for cancer operations. METHODS: A retrospective review was performed of children who underwent thoracotomy for a cancer diagnosis at a freestanding children’s hospital from 2018-2023. Patient characteristics, intraoperative data, and data on clinical course were collected. Patients were divided into those who underwent INC and those who underwent routine care for comparison. RESULTS: Twenty-six patients underwent 38 procedures at a median age of 16 years (range 5-21 years). INC was performed in 23 cases over a median of 5 intercostal levels (range 2-7). Total oral morphine equivalents (OME) during inpatient admission were significantly lower in INC patients (137.6mg versus 514.5mg, p=0.002). Routine care patients were more likely to be discharged with an opioid prescription (30.4% versus 80.0%, p=0.008). Length of stay was similar between patients with INC and routine care (4 versus 5 days, p=0.15). There were no differences in rates of reoperation or 30-day readmission (emergency department (ED) or inpatient). CONCLUSTIONS: INC is a feasible and safe adjunct for children undergoing thoracotomy for cancer. INC is associated with reduced postoperative opioid utilization with respect to both inpatient use and outpatient prescriptions.
An Epidemiological Study on Cancer Mortality: a 15-year cross-sectional study
Seyed Alireza  Alavi
Seyedeh Vajiheh Kazemian

Seyed Alireza Alavi

and 3 more

June 01, 2023
Background: The burden of cancer is on the rise and its epidemiology varies across different regions. Aims: To explore the epidemiology of cancer mortality in Iran, the current study examined data from 2004 to 2018 for the population served by Sabzevar University of Medical Sciences. Methods and results: This study collected data on cancer mortality using a registration system that classified the causes of death. The information was evaluated and analyzed using IBM SPSS Ver.22 at a significance level of 0.05, based on the ICD10 classification system. Over a period of 15 years, the mortality rate for all causes was 848.54 per ten thousand people, while the rate for cancer was 96.57. The median age of those who died from cancer was 68 years and it was higher for men than women. The age group with the highest cancer mortality rate was between 61 and 80 years old. Stomach, lung, and liver cancers were the most common fatal cancers, but their order varied depending on gender and region of residence. Throughout the entire 15-year period, the mortality rate for cancer in rural areas was reported as 116.12 per ten thousand people, while in urban areas it was 82.01. For men and women, the rates were reported as 111.50 and 81.18 respectively. The mortality rates for cancers of the esophagus, colon, pancreas, lung, breast, prostate, bladder and central nervous system were increasing over time while those for stomach, larynx and cervix were decreasing. Conclusion: It is of utmost importance to have health plans and policies in place that focus on preventing, detecting early, and treating cancers that have high mortality rates. These policies should take into account factors such as age, gender, and location. As cancer mortality rates change over time, it is essential to update health policies and decisions accordingly.
Specific aortic regurgitation: rupture of Valsalva aneurysm causes aortic valve prola...
Lai Bang-hui
Mingbin Deng

Lai Bang-hui

and 2 more

June 01, 2023
Severe aortic regurgitation from a ruptured Valsalva aneurysm is rare. We report on a 28-year-old male patient was presented with a Ruptured Sinus of Valsalva Aneurysm by Transthoracic echocardiography. Intraoperatively, a perforated aortic lobe was found to have caused specific aortic regurgitant flow. The patient underwent successful surgery. Intraoperative transesophageal echocardiography provides important information for the surgical plan.
Impact of COVID-19 on adverse reactions of SCIT in children
Jingjing Li
Yanling Chen

Jingjing Li

and 8 more

June 01, 2023
Objective: To investigate whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection increases the adverse reactions of subcutaneous specific immunotherapy in children. Methods: This study was conducted by collecting relevant data from children who underwent house dust mite SCIT from April 3, 2021 to March 18, 2023, including information on the time of COVID-19 infection, symptoms, and adverse reactions after each allergen injection. A mixed-effects model was used to analyze the changes in adverse reactions before and after COVID-19 infection. Results: Among the records of adverse reactions from 2658 injections in 123 children who underwent SCIT, the overall adverse reaction rate before COVID-19 infection was 39.8% and 30.0% after COVID-19 infection. Compared with pre-infection with COVID-19, the risks of overall adverse reactions, local adverse reactions, and systemic adverse reactions of desensitization treatment after COVID-19 infection were reduced (OR = 0.24, 0.31, and 0.28, all P <0.05). Among the local adverse reactions, the incidence of the unvaccinated group was the highest (15.3% vs. 7.1%). The incidence of overall and local adverse reactions to SCIT decreased in 2-vaccinated COVID-19 recipients (OR = 0.29–0.31, P <0.05) Conclusions: SARS-CoV-2 infection does not increase the incidence of adverse reactions to SCIT in children. SCIT can be performed according to the course of treatment after the SARS-CoV-2 infection is controlled, just like with other common infectious diseases.
Prognostic value of transglutaminase-2 overexpression in cancer patients: A Meta anal...
Sehreen Tory
Mojahidur Hasan

Sehreen Tory

and 3 more

June 01, 2023
Purpose Transglutaminase-2 (TG2) has been linked to cancer growth, proliferation, invasion, the epithelial-to-mesenchymal transition and metastasis, according to recent studies. Although the prognostic value of TG2 expression in a variety of cancer has been documented, it is still unclear because different researches have reported contradictory results. The goal of this study was to evaluate systematically the prognostic value of TG2 expression in cancer patients. Methods Web of Science, PubMed and Google scholar databases were searched up to 21 December, 2022. Eleven eligible studies were included in meta-analysis for determining the prognostic value of TG2 in cancer patients. While performing meta-analysis heterogeneity was checked by using I2 Cochran’s Q statistic. Random effect model was used in meta-analysis. Publication bias was assessed by using contour-enhanced funnel plots and Egger’s test. Results Eight studies were used for the meta-analysis of overall survival and found that having high expression of TG2 caused poor overall survival (HR: 1.66, 95%CI: 1.07-2.56). For disease-free survival, five studies included to the analysis and meta-analysis show that having high expression of TG2 also caused poor disease-free survival (HR: 1.68, 95%CI: 1.34-2.11). Conclusion:Our meta-analysis showed that high TG2 expression level causes poor overall and disease-free survival.
Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrom...
Seyed Mohsen Mirabdolhosseini
Mohammad Yaghoob Taleghani

Seyed Mohsen Mirabdolhosseini

and 11 more

June 01, 2023
Approximately 5% of colorectal cancers (CRCs) are hereditary. Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of recognized hereditary CRC. Although Iran, a developing country, has a high incidence of CRC, the spectrum of mutations has yet to be thoroughly investigated. Therefore, this study aimed to investigate pathogenic and non-pathogenic variants in MLH1 and MSH2 genes in Iranian patients with suspected Lynch syndrome (sLS). In the present study, 25 peripheral blood samples were collected from patients with sLS and high microsatellite instability (MSI-H). After DNA extraction, all samples underwent polymerase chain reaction (PCR) and Sanger sequencing to identify the variants in the exons of MLH1 and MSH2 genes. The identified variants were interpreted using prediction tools, including SIFT, CADD, PolyPhen, PROVEAN, REVEL, MetaLR, and Mutational Assessor. In our study population, 13 variants were found in the MLH1 gene and 8 in the MSH2 gene. Interestingly, 7 of the 13 MLH1 variants and 3 of the 8 MSH2 variants were novel, whereas the remaining variants were previously reported or available in databases. In addition, some patients with sLS did not have variants in the exons of the MLH1 and MSH2 genes. The variants detected in the MLH1 and MSH2 genes had specific characteristics regarding the number, area of occurrence, and their relationship with demographic and clinicopathologic features. We identified two novel pathogenic/likely pathogenic variants in these two genes. Overall, our results suggest that analysis of MLH1 and MSH2 genes alone is insufficient in the Iranian population, and more comprehensive tests are recommended for detecting LS.
The role of environmental stress in fruit pigmentation
Richard Espley
Laura Jaakola

Richard Espley

and 1 more

June 01, 2023
For many fruit crops, the colour of the fruit outwardly defines its eating quality. Fruit pigments provide reproductive advantage for the plant as well as providing protection against unfavourable environmental conditions and pathogens. For consumers these colours are considered attractive and provide many of the dietary benefits derived from fruits. In the majority of species, the main pigments are either carotenoids and/or anthocyanins. They are produced in the fruit as part of the ripening process, orchestrated by phytohormones and an ensuing transcriptional cascade, culminating in pigment biosynthesis. Whilst this is a controlled developmental process, the production of pigments is also attuned to environmental conditions such as light quantity and quality, availability of water and ambient temperature. If these factors intensify to stress levels, fruit tissues respond by increasing (or ceasing) pigment production. In many cases, if the stress is not severe, this can have a positive outcome for fruit quality. Here, we focus on the principal environmental factors (light, temperature and water) that can influence fruit colour.
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