69 results match your criteria: "National Institute of Health Doutor Ricardo Jorge (INSA)[Affiliation]"

Background: Axial Spondyloarthritis (axSpA) is a chronic inflammatory rheumatic condition affecting the axial skeleton, leading to pain, stiffness, and fatigue. While biologic therapies have improved clinical management, many patients experience partial or no responses, resulting in delays in disease control. Additionally, the risk of adverse events and increased costs remains a concern.

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Transcriptomic analysis and epigenetic regulators in human oocytes at different stages of oocyte meiotic maturation.

Dev Biol

December 2024

Genetics Unit, Department of Pathology, Faculty of Medicine University of Porto (FMUP), 4200-319, Portugal; CINTESIS@RISE-Health, Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal. Electronic address:

Human oocytes are highly specialized cells with the capacity to store and regulate mRNAs during oocyte maturation, in preparation for post-fertilization steps. Here we performed single-oocyte transcriptomic analysis of human oocytes in three meitoic maturation stages - Germinal Vesicle (GV; n = 6), Metaphase I (MI; n = 6) and Metaphase II (MII; n = 7). Single-oocyte transcriptomic analysis revealed that the total number of expressed genes progressively decreased from GV to MII stages, with 9660 genes being transcribed in GV, 8734 in MI and 5889 in MII.

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Mpox is a zoonotic disease caused by the Monkeypox virus (MPXV), and since May 2022, tens of thousands of cases have been reported in non-endemic countries. We aimed to evaluate the suitability of different sample types for mpox diagnostic and assess the temporal dynamics of viral load. We evaluated 1914 samples from 953 laboratory-confirmed cases.

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Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.

Int J Mol Sci

November 2024

Research and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.

Article Synopsis
  • * The p.Ala1035Val variant is the most common in Portugal and is linked to a potential SNP (p.Ile858Val) that may affect disease progression.
  • * Research using in vitro models reveals that the p.Ala1035Val variant, especially when combined with p.Ile858Val, shows decreased lysosomal trafficking similar to p.Ile1061Thr, suggesting the need for new therapeutic approaches.
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Invasive mosquito species, such as , pose significant threats to both ecosystems and public health due to their role in transmitting diseases, such as dengue, Zika, and chikungunya. The Sterile Insect Technique (SIT) is a promising vector control strategy aimed at reducing mosquito populations by releasing sterile males to mate with wild females and reduce their reproduction rates. In this study, we employed the captive cohort method, which assesses the remaining longevity of randomly caught released individuals, to assess the longevity and frailty dynamics of sterile and non-sterile males.

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Estrogen-mediated inhibition of purine metabolism and cell cycle arrest as a novel therapeutic approach in colorectal cancer.

Mol Cell Endocrinol

January 2025

Department of Basic Medical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates; Research Institute of Medical and Health Sciences, University of Sharjah, United Arab Emirates; Department of Biomedical Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom. Electronic address:

Purine metabolism is upregulated in various cancers including colorectal cancer (CRC). While previous work has elucidated the role of estrogen (E2) in metabolic reprogramming and ATP production, the effect of E2 on purine metabolism remains largely unknown. Herein, the impact of E2 signalling on purine metabolism in CRC cells was investigated using metabolome and transcriptome profiling of cell extracts derived from E2-treated HCT-116 cells with intact or silenced estrogen receptor alpha (ERα).

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Article Synopsis
  • * The study employed a SEIR model to analyze transmission dynamics and found that MSM with high sexual activity contributed significantly more to mpox spread than those with low sexual activity, but vaccinated individuals were less likely to spread the virus.
  • * Findings suggest that ongoing vaccination efforts, increased awareness in at-risk communities, and regular genomic surveillance are essential for managing future mpox outbreaks and potential threats from new viral clades.
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is considered one of the major invasive species in the world and can transmit viruses such as dengue, Zika, or chikungunya. The Sterile Insect Technique (SIT) can be used to suppress the native populations of . Mark-release-recapture (MRR) studies are crucial to support the development of the release strategy during the SIT application.

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Unlabelled: COVID-19 is a highly contagious infectious disease that has posed a global threat, leading to a widespread pandemic characterized by multi-organ complications and failures.

Aims: The present study was conducted to evaluate the impact of Pfizer and Sinopharm vaccines on metabolomic changes and their correlations with immune pathways.

Main Methods: The study used a cross-sectional design and implemented an untargeted metabolomics-based approach.

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The gut microbiota and its secreted metabolites play a significant role in cardiovascular and musculoskeletal health and diseases. The dysregulation of the intestinal microbiota poses a significant threat to cardiovascular and skeletal muscle well-being. Nonetheless, the precise molecular mechanisms underlying these changes remain unclear.

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Comparative proteomic analysis of saliva from chewing tobacco users and oral cancer patients reveals shared biomarkers: A case control observational study.

J Dent

October 2024

Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates; College of Dental Medicine, Department of Oral & Craniofacial Health Sciences, University of Sharjah, United Arab Emirates. Electronic address:

Objective: The aim of this study was to compare the salivary proteomic profile of smokeless tobacco users with that of non-users and oral cancer patients using Liquid Chromatography-Mass Spectrometry/ Mass Spectrometry (LC-MS/MS).

Methods: Saliva samples from 65 participants were collected in three groups: control (25 participants), smokeless tobacco users (25 participants), and oral cancer (15 participants).

Results: The analysis revealed 343 protein groups with significantly altered abundance in the saliva samples (P < 0.

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Genomic study of European ribotype 002/sequence type 8.

Microb Genom

July 2024

Institute of Bacterial Infections and Zoonoses, Friedrich-Loeffler-Institut, Federal Research Institute for Animal Health, Naumburger Straße 96a, 07743 Jena, Germany.

Article Synopsis
  • The study focuses on ribotype (RT) 002, linked to severe healthcare-associated infections like colitis, by analyzing the genetic characteristics of 537 genomes associated with MLST sequence type (ST) 8.
  • Researchers sequenced 298 strains from a new European collection, comparing them with a global dataset of 1,437 ST8 genomes, revealing genetic similarity, diverse antimicrobial resistance genes, and an open genomic structure.
  • Results indicate that while ST8 shows low overall variation and stability across different environments, it can still acquire antimicrobial resistance genes, highlighting the need for ongoing surveillance of non-human sources to better understand its epidemiology.
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Background: Understanding the biology of methicillin resistant (MRSA) is crucial to unlocking insights for new targets in our fight against this antimicrobial resistant priority pathogen. Although proteomics and metabolomic profiling offer the potential to elucidating such biological markers, reports of methodological approaches for carrying this out in isolates remain limited. We describe the use of a dual-functionality methanol extraction method for the concurrent extraction of protein and metabolites from and report on the comparative analysis of the proteomic and metabolomic profiles of MRSA versus methicillin sensitive (MSSA).

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The energetic green transition is increasing the demand for lithium (Li) exploitation. However, the Li supply faces challenges like limited reserves and environmental concerns. This pioneer study aims to characterize the Li concentrations in the region around the Barroso mine, in Portugal, by collecting and analyzing samples of cabbage, potato, drinking and irrigation water and soil from two nearby sites, and performing a preliminary exposure and risk assessment of local populations.

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Exploring BPA alternatives - Environmental levels and toxicity review.

Environ Int

July 2024

Laboratory of Environmental Control of Pesticides, Benaki Phytopathological Institute, 8th Stefanou Delta str., 14561, Kifissia, Attica, Greece. Electronic address:

Bisphenol A alternatives are manufactured as potentially less harmful substitutes of bisphenol A (BPA) that offer similar functionality. These alternatives are already in the market, entering the environment and thus raising ecological concerns. However, it can be expected that levels of BPA alternatives will dominate in the future, they are limited information on their environmental safety.

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Background: West Nile Virus (WNV) is a zoonotic arbovirus worldwide spread. Seasonal WNV outbreaks occur in the Mediterranean basin since the late 1990's with ever-increasing incidence. In Southern Spain WNV is endemic, as disease foci - caused by WNV lineage 1 (WNV-L1) strains - occur every year.

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, a foodborne pathogen, exhibits high adaptability to adverse environmental conditions and is common in the food industry, especially in ready-to-eat foods. strains pose food safety challenges due to their ability to form biofilms, increased resistance to disinfectants, and long-term persistence in the environment. The aim of this study was to evaluate the presence and genetic diversity of in food and related environmental products collected from 2014 to 2022 and assess antibiotic susceptibility and biofilm formation abilities.

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Background: Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack of bioinformatics tools and/or expertise. In order to face this challenge, we have previously developed INSaFLU, a free web-based bioinformatics platform for virus next-generation sequencing data analysis. Here, we considerably expanded its genomic surveillance component and developed a new module (TELEVIR) for metagenomic virus identification.

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Apoptosis, programmed cell death pathway, is a vital physiological mechanism that ensures cellular homeostasis and overall cellular well-being. In the context of cancer, where evasion of apoptosis is a hallmark, the overexpression of anti-apoptotic proteins like Bcl2, Bcl-xL and Mcl-1 has been documented. Consequently, these proteins have emerged as promising targets for therapeutic interventions.

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Valorisation of sea urchin (Paracentrotus lividus) gonads through canning.

Food Chem

August 2024

Interdisciplinary Centre of Marine and Environmental Research (CIIMAR), University of Porto, Terminal de Cruzeiros do Porto de Leixões, Av. General Norton de Matos S/N, 4450-208 Matosinhos, Portugal. Electronic address:

Fresh sea urchin (Paracentrotus lividus) gonads are a delicacy with short seasonal availability, very often heterogeneous in size and intrinsic characteristics. This study aimed to valorise this resource through the preparation of canned products (with/without Porphyra spp.) and evaluate their physicochemical and sensory quality (3-12 months).

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In response to the pressing need for continuous monitoring of emergence and circulation of pathogens through genomics, it is imperative to keep developing bioinformatics tools that can help in their rapid characterization and classification. Here, we introduce ReporType, a versatile bioinformatics pipeline designed for targeted loci screening and typing of infectious agents. Developed using the snakemake workflow manager, ReporType integrates multiple software for read quality control and de novo assembly, and then applies ABRicate for locus screening, culminating in the production of easily interpretable reports for the identification of pathogen genotypes and/or screening of specific genomic loci.

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This study extensively analyzed campylobacteriosis surveillance in Portugal from 2009 to 2021, aiming to investigate demographic shifts, seasonal variations, and antimicrobial resistance (AMR) within isolates. Surveillance network and sentinel laboratory-based system data revealed a substantial under-notification of campylobacteriosis cases, suggesting an underestimated disease burden. Notification rates exhibited a paradigm shift, with a notable prevalence among the pediatric population, particularly in children aged 1-4 years, diverging from European reports.

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Multicentric Study on the Clinical Mycology Capacity and Access to Antifungal Treatment in Portugal.

Mycopathologia

January 2024

Faculty of Medicine and University Hospital Cologne, Institute of Translational Research, Cologne Excellence Cluster On Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Herderstr. 52, 50931, Cologne, Germany.

The success of the clinical management of invasive fungal diseases (IFD) is highly dependent on suitable tools for timely and accurate diagnosis for effective treatment. An in-depth analysis of the ability of European institutions to promptly and accurately diagnose IFD was previously conducted to identify limitations and aspects to improve. Here, we evaluated and discussed the specific case of Portugal, for which, to our knowledge, there are no reports describing the national mycological diagnostic capacity and access to antifungal treatment.

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Background: Glioblastoma (GBM) is a primary malignancy of the central nervous system and is classified as a grade IV astrocytoma by the World Health Organization (WHO). Although GBM rarely metastasizes, its prognosis remains poor. Moreover, the standard treatment for GBM, temozolomide (TMZ), is associated with chemoresistance, which is a major factor behind GBM-related deaths.

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Introduction: is a highly infectious bacterium that causes the zoonotic disease tularemia. The development of genotyping methods, especially those based on whole-genome sequencing (WGS), has recently increased the knowledge on the epidemiology of this disease. However, due to the difficulties associated with the growth and isolation of this fastidious pathogen in culture, the availability of strains and subsequently WGS data is still limited.

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