Search

A medida que disminuye el agua de riego, la transpiración del cultivo disminuye, resultando en un incremento de la temperatura foliar y un aumento del índice de estrés hídrico del cultivo (IEHC). Por ello, en el estudio, se evaluó la respuesta del Capsicum a diferentes regímenes de riego, con mediciones periódicas de la temperatura de la hoja, la conductancia estomática y la estimación del IEHC. Los tratamientos consistieron en un riego por goteo completo (RO) y riego con déficit (RD-78 y RD-58) que recibieron el 78% y 58% del riego completo, aplicándose un volumen total de agua de 3363, 2618 y 1956 m3 ha-1 para RO, RD-78 y RD-58, respectivamente; and obteniéndose rendimientos máximos de 30,2, 13,9 y 12,9 t ha-1 con IEHC de 0,50, 0,62 y 0,54 en C. bacatum, C. annumm y C. chinense, respectivamente. Los mayores valores de conductancia estomática variaron de 724 a 887 mmol s-1 m-2, con IEHC de 0,1 a 0,3. El valor IEHC de 0,3 (humedad del suelo del 25% al 33%), resulta en un buen indicador del momento del riego, criterio a incorporar con la finalidad de ahorrar agua y mejorar la gestión de programas de riego del Capsicum.

Accurate synthetic image generation is crucial for addressing data scarcity challenges in medical image classification tasks, particularly in sensor-derived medical imaging. In this work, we propose a novel method using a Wasserstein Generative Adversarial Network with Gradient Penalty (WGAN-GP) and nearest-neighbor interpolation to generate high-quality synthetic images for diabetic retinopathy classification. Our approach enhances training datasets by generating realistic retinal images that retain critical pathological features. We evaluated the method across multiple retinal image datasets, including Retinal-Lesions, Fine-Grained Annotated Diabetic Retinopathy (FGADR), Indian Diabetic Retinopathy Image Dataset (IDRiD), and the Kaggle Diabetic Retinopathy dataset. The proposed method outperformed traditional generative models, such as conditional GANs and PathoGAN, achieving the best performance on key metrics: a Fréchet Inception Distance (FID) of 15.21, a Mean Squared Error (MSE) of 0.002025, and a Structural Similarity Index (SSIM) of 0.89 in the Kaggle dataset. Additionally, expert evaluations revealed that only 56.66% of synthetic images could be distinguished from real ones, demonstrating the high fidelity and clinical relevance of the generated data. These results highlight the effectiveness of our approach in improving medical image classification by generating realistic and diverse synthetic datasets.

Background: Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routinely captured and/or evaluated by standard clinical genetic tests. Recent computational algorithms such as SpliceAI have shown an ability to predict such variants, but are not specific to cardiac-expressed genes and transcriptional isoforms., Methods: We used genome sequencing (GS) (n = 1101 CHD probands) and myocardial RNA-Sequencing (RNA-Seq) (n = 154 CHD and n = 43 cardiomyopathy probands) to identify and validate splice disrupting variants, and to develop a heart-specific model for canonical and non-canonical splice variants that can be applied to patients with CHD and cardiomyopathy. Two thousand five hundred seventy GS samples from the Medical Genome Reference Bank were analyzed as healthy controls., Results: Of 8583 rare DNA splice-disrupting variants initially identified using SpliceAI, 100 were associated with altered splice junctions in the corresponding patient myocardium affecting 95 genes. Using strength of myocardial gene expression and genome-wide DNA variant features that were confirmed to affect splicing in myocardial RNA, we trained a machine learning model for predicting cardiac-specific splice-disrupting variants (AUC 0.86 on internal validation). In a validation set of 48 CHD probands, the cardiac-specific model outperformed a SpliceAI model alone (AUC 0.94 vs 0.67 respectively). Application of this model to an additional 947 CHD probands with only GS data identified 1% patients with canonical and 11% patients with non-canonical splice-disrupting variants in CHD genes. Forty-nine percent of predicted splice-disrupting variants were intronic and > 10 bp from existing splice junctions. The burden of high-confidence splice-disrupting variants in CHD genes was 1.28-fold higher in CHD cases compared with healthy controls., Conclusions: A new cardiac-specific in silico model was developed using complementary GS and RNA-Seq data that improved genetic yield by identifying a significant burden of non-canonical splice variants associated with CHD that would not be detectable through panel or exome sequencing., (© 2024. The Author(s).)

Effective pest population monitoring is crucial in precision agriculture, which integrates various technologies and data analysis techniques for enhanced decision-making. This study introduces a novel approach for monitoring lures in traps targeting the Mediterranean fruit fly, utilizing air quality sensors to detect total volatile organic compounds (TVOC) and equivalent carbon dioxide (eCO 2 ). Our results indicate that air quality sensors, specifically the SGP30 and ENS160 models, can reliably detect the presence of lures, reducing the need for frequent physical trap inspections and associated maintenance costs. The ENS160 sensor demonstrated superior performance, with stable detection capabilities at a predefined distance from the lure, suggesting its potential for integration into smart trap designs. This is the first study to apply TVOC and eCO 2 sensors in this context, paving the way for more efficient and cost-effective pest monitoring solutions in smart agriculture environments.

Plasma focus devices represent a class of hot and dense plasma sources that serve a dual role in fundamental plasma research and practical applications. These devices allow the observation of various phenomena, including the z-pinch effect, nuclear fusion reactions, plasma filaments, bursts, shocks, jets, X-rays, neutron pulses, ions, and electron beams. In recent years, considerable efforts have been directed toward miniaturizing plasma focus devices, driven by the pursuit of both basic studies and technological advancements. In this paper, we present the design and construction of a compact, portable pulsed plasma source based on plasma focus technology, operating at the ~2-4 Joule energy range for versatile applications (PF-2J: 120 nF capacitance, 6-9 kV charging voltage, 40 nH inductance, 2.16-4.86 J stored energy, and 10-15 kA maximum current at short circuit). The components of the device, including capacitors, spark gaps, discharge chambers, and power supplies, are transportable within hand luggage. The electrical characteristics of the discharge were thoroughly characterized using voltage and current derivative monitoring techniques. A peak current of 15 kiloamperes was achieved within 110 nanoseconds in a short-circuit configuration at a 9 kV charging voltage. Plasma dynamics were captured through optical refractive diagnostics employing a pulsed Nd-YAG laser with a 170-picosecond pulse duration. Clear evidence of the z-pinch effect was observed during discharges in a deuterium atmosphere at 4 millibars and 6 kilovolts. The measured pinch length and radius were approximately 0.8 mm and less than 100 μm, respectively. Additionally, we explore the potential applications of this compact pulsed plasma source. These include its use as a plasma shock irradiation device for analyzing materials intended for the first wall of nuclear fusion reactors, its capability in material film deposition, and its utility as an educational tool in experimental plasma physics. We also show its potential as a pulsed plasma thruster for nanosatellites, showcasing the advantages of miniaturized plasma focus technology.

Background: Cardiomyopathy is a clinically and genetically heterogeneous heart condition that can lead to heart failure and sudden cardiac death in childhood. While it has a strong genetic basis, the genetic aetiology for over 50% of cardiomyopathy cases remains unknown., Methods: In this study, we analyse the characteristics of tandem repeats from genome sequence data of unrelated individuals diagnosed with cardiomyopathy from Canada and the United Kingdom (n = 1216) and compare them to those found in the general population. We perform burden analysis to identify genomic and epigenomic features that are impacted by rare tandem repeat expansions (TREs), and enrichment analysis to identify functional pathways that are involved in the TRE-associated genes in cardiomyopathy. We use Oxford Nanopore targeted long-read sequencing to validate repeat size and methylation status of one of the most recurrent TREs. We also compare the TRE-associated genes to those that are dysregulated in the heart tissues of individuals with cardiomyopathy., Findings: We demonstrate that tandem repeats that are rarely expanded in the general population are predominantly expanded in cardiomyopathy. We find that rare TREs are disproportionately present in constrained genes near transcriptional start sites, have high GC content, and frequently overlap active enhancer H3K27ac marks, where expansion-related DNA methylation may reduce gene expression. We demonstrate the gene silencing effect of expanded CGG tandem repeats in DIP2B through promoter hypermethylation. We show that the enhancer-associated loci are found in genes that are highly expressed in human cardiomyocytes and are differentially expressed in the left ventricle of the heart in individuals with cardiomyopathy., Interpretation: Our findings highlight the underrecognized contribution of rare tandem repeat expansions to the risk of cardiomyopathy and suggest that rare TREs contribute to ∼4% of cardiomyopathy risk., Funding: Government of Ontario (RKCY), The Canadian Institutes of Health Research PJT 175329 (RKCY), The Azrieli Foundation (RKCY), SickKids Catalyst Scholar in Genetics (RKCY), The University of Toronto McLaughlin Centre (RKCY, SM), Ted Rogers Centre for Heart Research (SM), Data Sciences Institute at the University of Toronto (SM), The Canadian Institutes of Health Research PJT 175034 (SM), The Canadian Institutes of Health Research ENP 161429 under the frame of ERA PerMed (SM, RL), Heart and Stroke Foundation of Ontario & Robert M Freedom Chair in Cardiovascular Science (SM), Bitove Family Professorship of Adult Congenital Heart Disease (EO), Canada Foundation for Innovation (SWS, JR), Canada Research Chair (PS), Genome Canada (PS, JR), The Canadian Institutes of Health Research (PS)., Competing Interests: Declaration of interests SM holds the Heart and Stroke Foundation of Canada/Robert M Freedom Chair in Cardiovascular Science and serves on the Advisory Board for Bristol Myers Squibb and Tenaya Therapeutics. EO holds the Bitove Family Professorship of Adult Congenital Heart Disease. SWS is on the Scientific Advisory Committees of Population Bio, Inc. and Deep Genomics and serves as a Highly Cited Academic Advisor for the King Abdulaziz University. SWS and RY hold patent entitled “Genome-wide Detection of DNA Repeats Expanded in Disease” (WO2021119840A1). PM is a Senior Medical Director at Maternal Newborn Child Youth Strategic Clinical Network (Alberta Health Services) and was supported for attending Clinical Microbiology and Infectious Diseases, Long COVID and ENRICH meetings. TJM received support from CIHR, PSI and SickKids Foundation, CAMH and GSK. ES received support from COVID-19 Immune Task Force, Children's Hospital Foundation and CIHR, and is on the American Academy of Allergy, Asthma, and Immunology Credentials Committee. JR is supported by Canada Foundation for Innovation and received support for attending Ultima Biosciences and 10x Genomics meetings. Illumina, Inc. provided sequencing reagents for the CHILD cohort study. CHILD cohort study was supported by CIHR, AllerGen NCE, Alberta Health, Public Health Agency of Canada and Women's and Children's Health Research. Other authors declare that they have no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)

DNA replication enables genetic inheritance across the kingdoms of life. Replication occurs with a defined temporal order known as the replication timing (RT) programme, leading to organization of the genome into early- or late-replicating regions. RT is cell-type specific, is tightly linked to the three-dimensional nuclear organization of the genome 1,2 and is considered an epigenetic fingerprint 3 . In spite of its importance in maintaining the epigenome 4 , the developmental regulation of RT in mammals in vivo has not been explored. Here, using single-cell Repli-seq 5 , we generated genome-wide RT maps of mouse embryos from the zygote to the blastocyst stage. Our data show that RT is initially not well defined but becomes defined progressively from the 4-cell stage, coinciding with strengthening of the A and B compartments. We show that transcription contributes to the precision of the RT programme and that the difference in RT between the A and B compartments depends on RNA polymerase II at zygotic genome activation. Our data indicate that the establishment of nuclear organization precedes the acquisition of defined RT features and primes the partitioning of the genome into early- and late-replicating domains. Our work sheds light on the establishment of the epigenome at the beginning of mammalian development and reveals the organizing principles of genome organization., (© 2023. The Author(s).)

Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.6% vs 25.9% respectively, p = 0.0015), with variant enrichment in constrained coding regions. Pediatric patients had a higher burden of sarcomere and lower burden of channelopathy gene variants compared to adults. Specifically, pediatric patients had more MYH7 and MYL3 variants in hypertrophic cardiomyopathy, and fewer TTN truncating variants in dilated cardiomyopathy. MYH7 variants clustered in the myosin head and neck domains in children. OBSCN was a top mutated gene in adults, enriched for protein-truncating variants. In dilated cardiomyopathy, female patients had a higher burden of z-disc gene variants compared to males. Genetic differences may explain age and sex-related variability in cardiomyopathy penetrance. Genotype-guided predictions of age of onset can inform pre-test genetic counseling. Pediatric cardiomyopathy patients were more likely to be genotype-positive than adults with a higher burden of variants in MYH7, MYL3, TNNT2, VCL. Adults had a higher burden of OBSCN and TTN variants. Females with dilated cardiomyopathy (DCM) had a higher burden of z-disc gene variants compared to males., (© 2023. The Author(s).)

Studies on genetic variability amongst native and introduced species contribute to a better understanding of the genetic diversity of species along their autochthonous distribution and identify possible routes of introduction. Gonatodescaudiscutatus is a gecko native to western Ecuador and introduced to the Galapagos Islands. Despite being a successful species in human-modified habitats along its native and non-native ranges, neither the colonisation process nor the genetic diversity of this gecko is known. In this study, we analysed 55 individuals from 14 localities in western Ecuador and six localities in San Cristobal Island, Galapagos - the only island with a large, self-sustaining population. We amplified and analysed the genetic variability of two nuclear genes (Cmos and Rag2) and one mitochondrial gene (16S). Cmos and Rag2 sequences presented little to none genetic variability, while 16S allowed us to build a haplotype network. We identified nine haplotypes across mainland Ecuador, two of which are also present in Galapagos. Low genetic diversity between insular and continental populations suggests that the introduction of G.caudiscutatus on the Islands is relatively recent. Due to the widespread geographical distribution of mainland haplotypes, it was not possible to determine the source population of the introduction. This study represents the first exploration of the genetic diversity of Gonatodescaudiscutatus , utilising genetic tools to gain insights into its invasion history in the Galapagos., Competing Interests: No conflict of interest to declare Disclaimer: This article is (co-)authored by any of the Editors-in-Chief, Managing Editors or their deputies in this journal., (Lía Altamirano-Ponce, Mateo Dávila-Játiva, Gabriela Pozo, María José Pozo, Martín Terán-Velástegui, Carlos Daniel Cadena, Diego F. Cisneros-Heredia, Maria de Lourdes Torres.)

In radar entomology, one primary challenge is detecting small species (smaller than 5 cm) since these tiny insects reflect radiation that can be poorly observable and, therefore, difficult to interpret. After a literature search on radar entomology, this research found few works where it has been possible to sense insects with dimensions smaller than 5 cm using radars. This paper describes different methodologies to detect Mediterranean fruit flies with 5-6 mm sizes using a pulsed W-band radar and presents the experimental results that validate the procedures. The article's main contribution is the successful detection of Mediterranean fruit flies employing the shadow effect on the backscattered radar signal, achieving an 11% difference in received power when flies are present. So far, according to the information available and the literature search, this work is the first to detect small insects less than 1 cm long using a pulsed radar in W-Band. The results show that the proposed shadow effect is a viable alternative to the current sensors used in smart traps, as it allows not only detection but also counting the number of insects in the trap.

Fertilization in mammals is accompanied by an intense period of chromatin remodeling and major changes in nuclear organization. How the earliest events in embryogenesis, including zygotic genome activation (ZGA) during maternal-to-zygotic transition, influence such remodeling remains unknown. Here, we have investigated the establishment of nuclear architecture, focusing on the remodeling of lamina-associated domains (LADs) during this transition. We report that LADs reorganize gradually in two-cell embryos and that blocking ZGA leads to major changes in nuclear organization, including altered chromatin and genomic features of LADs and redistribution of H3K4me3 toward the nuclear lamina. Our data indicate that the rearrangement of LADs is an integral component of the maternal-to-zygotic transition and that transcription contributes to shaping nuclear organization at the beginning of mammalian development., (© 2023 Pal et al.; Published by Cold Spring Harbor Laboratory Press.)