Publications by authors named "Genova A"

Article Synopsis
  • The study aims to understand how specific molecular changes, particularly the expression of a certain gene, influence the clinical outcomes of patients with pulmonary carcinoids, which can range from slow-growing to deadly tumors.
  • Researchers analyzed RNA sequencing data from two cohorts of pulmonary carcinoid patients (totaling 193) to determine the prognostic value of this gene expression and its relationship with telomerase activity, which is linked to tumor aggressiveness.
  • Results showed that high expression of the gene correlates with worse survival rates and is an independent predictor of poor clinical outcomes, suggesting that it could be a key factor in assessing the severity of pulmonary carcinoids.
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Article Synopsis
  • The study aims to clarify the evolutionary relationships of the Orestias genus, previously misclassified under the family Cyprinodontidae due to incomplete data, by using complete genome sequencing.* -
  • Researchers sequenced genomes from three Orestias species and created a comprehensive phylogenetic tree, revealing that Orestias is closely related to South American fish rather than distant genera.* -
  • Findings indicate that Orestias should be reassigned to its own lineage, closely linked to the Fluviphylacidae family, rather than being grouped with Cyprinodontidae.*
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COVID-19 has highlighted strengths and weaknesses in healthcare systems all over the word. Despite the differences in primary care models in Europe, this study investigates the state-of-the-art of general practitioners (GPs) before the COVID-19 pandemic spread as a result of the reform process of the previous two decades. The GPs numbers over 100,000 inhabitants has been considered as a proxy of public health investment in GPs.

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The Galileo mission to Jupiter revealed that Europa is an ocean world. The Galileo magnetometer experiment in particular provided strong evidence for a salty subsurface ocean beneath the ice shell, likely in contact with the rocky core. Within the ice shell and ocean, a number of tectonic and geodynamic processes may operate today or have operated at some point in the past, including solid ice convection, diapirism, subsumption, and interstitial lake formation.

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Objective:  To analyze the impact of the COVID-19 pandemic on the residency of gynecology and obstetrics in São Paulo.

Methods:  Cross-sectional study developed by representatives of residents of the Association of Gynecology and Obstetrics of the State of São Paulo (SOGESP, in the Portuguese acronym). Data were collected from questionnaires applied to gynecology and obstetrics residents registered on the SOGESP website in February 2022.

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Malignant pleural mesothelioma (MPM) is an aggressive cancer with rising incidence and challenging clinical management. Through a large series of whole-genome sequencing data, integrated with transcriptomic and epigenomic data using multiomics factor analysis, we demonstrate that the current World Health Organization classification only accounts for up to 10% of interpatient molecular differences. Instead, the MESOMICS project paves the way for a morphomolecular classification of MPM based on four dimensions: ploidy, tumor cell morphology, adaptive immune response and CpG island methylator profile.

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Background: Malignant pleural mesothelioma (MPM) is a rare understudied cancer associated with exposure to asbestos. So far, MPM patients have benefited marginally from the genomics medicine revolution due to the limited size or breadth of existing molecular studies. In the context of the MESOMICS project, we have performed the most comprehensive molecular characterization of MPM to date, with the underlying dataset made of the largest whole-genome sequencing series yet reported, together with transcriptome sequencing and methylation arrays for 120 MPM patients.

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Type 2 diabetes mellitus (T2DM) is a highly heterogeneous chronic disease with different pathophysiological and genetic characteristics affecting its progression, associated complications and response to therapies. The advances in deep learning (DL) techniques and the availability of a large amount of healthcare data allow us to investigate T2DM characteristics and evolution with a completely new approach, studying common disease trajectories rather than cross sectional values. We used an Kernelized-AutoEncoder algorithm to map 5 years of data of 11,028 subjects diagnosed with T2DM in a latent space that embedded similarities and differences between patients in terms of the evolution of the disease.

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The demand for high-throughput electron tomography is rapidly increasing in biological and material sciences. However, this 3D imaging technique is computationally bottlenecked by alignment and reconstruction which runs from hours to days. We demonstrate real-time tomography with dynamic 3D tomographic visualization to enable rapid interpretation of specimen structure immediately as data is collected on an electron microscope.

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Article Synopsis
  • Orestias ascotanensis is a unique pupfish species found in high-altitude springs in Chile, which offers insights into how organisms adapt to extreme environments.
  • Researchers sequenced the genome of this fish and found a contraction in genes related to signaling, while genes involved in microtubule movement and protein regulation expanded.
  • The study identified 818 genes under positive selection, particularly those linked to DNA repair, highlighting potential mechanisms this fish uses to survive increased UV radiation at high altitudes.
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Background: The rice weevil Sitophilus oryzae is one of the most important agricultural pests, causing extensive damage to cereal in fields and to stored grains. S. oryzae has an intracellular symbiotic relationship (endosymbiosis) with the Gram-negative bacterium Sodalis pierantonius and is a valuable model to decipher host-symbiont molecular interactions.

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We compared the prognostic value of myocardial perfusion imaging (MPI) by conventional- (C-) single-photon emission computed tomography (SPECT) and cadmium-zinc-telluride- (CZT-) SPECT in a cohort of patients with suspected or known coronary artery disease (CAD) using machine learning (ML) algorithms. A total of 453 consecutive patients underwent stress MPI by both C-SPECT and CZT-SPECT. The outcome was a composite end point of all-cause death, cardiac death, nonfatal myocardial infarction, or coronary revascularization procedures whichever occurred first.

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Background: We evaluated the prognostic value of changes in perfusion defect size (PDS) on serial MPS in patients treated with primary percutaneous coronary intervention (PCI) after acute myocardial infarction (AMI).

Methods: We enrolled 112 patients treated with primary PCI after AMI who underwent two stress MPS within 1 month and after 6 months. Improvement in PDS was defined as a reduction ≥5%.

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Studies of the current Chilean population performed using classical genetic markers have established that the Chilean population originated primarily from the admixture of European people, particularly Spaniards, and Amerindians. A socioeconomic-ethno-genetic cline was established soon after the conquest. Spaniards born in Spain or Chile occupied the highest Socioeconomic Strata, while Amerindians belonged to the lowest.

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Article Synopsis
  • - The text discusses the challenges in generating precise genome assemblies for complex human genomes using only long, error-prone sequencing reads, which often leads to a combination of long and accurate short reads for better results.
  • - It introduces WENGAN, a new hybrid assembly algorithm that efficiently combines data from various sequencing technologies, leading to high-quality genome assemblies with minimal computational costs.
  • - WENGAN has been successfully applied to assemble four human genomes, achieving impressive metrics like high contig NG50 values (up to 80.64 Mb), fewer assembly errors, and excellent gene completeness, outperforming the existing human reference genome.
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Mycoplasma hyopneumoniae is the most costly pathogen for swine production. Although several studies have focused on the host-bacterium association, little is known about the changes in gene expression of swine cells upon infection. To improve our understanding of this interaction, we infected swine epithelial NPTr cells with M.

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Background: Berry size is considered as one of the main selection criteria in table grapes breeding programs, due to the consumer preferences. However, berry size is a complex quantitive trait under polygenic control, and its genetic determination of berry weight is not yet fully understood. The aim of this work was to perform marker discovery using a transcriptomic approach, in order to identify and characterize SNP and InDel markers associated with berry size in table grapes.

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Reconstruction of genome-based metabolic model is a useful approach for the assessment of metabolic pathways, genes and proteins involved in the environmental fitness capabilities or pathogenic potential as well as for biotechnological processes development. Pseudomonas sp. LFM046 was selected as a good polyhydroxyalkanoates (PHA) producer from carbohydrates and plant oils.

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Background: We evaluated the performance of conventional (C) single-photon emission computed tomography (SPECT) and cadmium-zinc-telluride (CZT)-SPECT in a large cohort of patients with suspected or known coronary artery disease (CAD) and compared the diagnostic accuracy of the two systems using machine learning (ML) algorithms.

Methods And Results: A total of 517 consecutive patients underwent stress myocardial perfusion imaging (MPI) by both C-SPECT and CZT-SPECT. In the overall population, an excellent correlation between stress MPI data and left ventricular (LV) functional parameters measured by C-SPECT and by CZT-SPECT was observed (all P < .

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Background: We measured myocardial blood flow (MBF) and perfusion reserve (MPR) by dynamic CZT-SPECT and Rb-PET in patients with suspected or known coronary artery disease (CAD) and compared the accuracy of the two methods in predicting obstructive CAD.

Methods: Twenty-five patients with available coronary angiography data underwent Tc-sestamibi CZT-SPECT and Rb-PET cardiac imaging. Stress and rest MBF and MPR were calculated by both methods and compared.

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Carpal tunnel syndrome (CTS) is a common medical condition that remains one of the most frequently reported forms of median nerve compression. CTS occurs when the median nerve is squeezed or compressed as it travels through the wrist. The syndrome is characterized by pain in the hand, numbness, and tingling in the distribution of the median nerve.

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Background: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African.

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Despite increased research, the risks of developing esophageal cancer and of death from this disease, especially among men, have increased worldwide. The goals of this review include an assessment of male predominance of esophageal cancer and an analysis of its high mortality rates. Determination of the genetic and environmental factors associated with esophageal cancer may help explain its male predominance and help design more effective treatments of this disease.

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The use of opioids in chronic non-cancer pain (CNCP) has been a fast-rising treatment phenomenon in the last two decades. Though opioids are advocated in various chronic pain management guidelines, their use in chronic non-cancer pain still remains controversial as evidence of this approach is still weak. This paper highlights potential adverse effects associated with opioid use in pain management, including an increase in tolerance, dependence, and addiction outcomes.

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