371 results match your criteria: "ICBAS School of Medicine and Biomedical Sciences[Affiliation]"

Article Synopsis
  • Genetic alterations play a crucial role in cancer development, highlighting the need for effective genetic counselling to support patient decision-making in EU Member States.
  • A study of national legislation across 27 EU countries revealed that 22 have laws on genetic counselling, but practices and regulations differ significantly.
  • Common barriers include workforce capacity and genetic literacy, with calls for better integration of genetic counsellors and updated laws to improve the overall practice.
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Diagnostic Test Accuracy of Urinary DNA Methylation-based Biomarkers for the Detection of Primary and Recurrent Bladder Cancer: A Systematic Review and Meta-analysis.

Eur Urol Focus

June 2024

Cancer Biology & Epigenetics Group, IPO Porto Research Center of IPO Porto (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center - Raquel Seruca (Porto.CCC) & CI-IPOP@RISE (Health Research Network), Porto, Portugal; Department of Pathology and Molecular Immunology, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal. Electronic address:

Background And Objective: Diagnosis of primary and relapsed bladder carcinomas is accomplished by urethrocystoscopy, an invasive procedure, combined with urinary cytology, with limited sensitivity, resulting in a substantial burden. Thus, noninvasive biomarkers have been investigated, among which DNA methylation has shown promise. This systematic review and meta-analysis sought to assess the diagnostic accuracy of DNA methylation biomarkers reported in the literature for bladder cancer detection, pinpointing the most informative one.

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Gestational Diabetes Risk and Low Birth Weight After Metabolic Bariatric Surgery: a Complex Interplay to be Balanced.

Obes Surg

July 2024

Endocrine and Metabolic Research, UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.

Article Synopsis
  • Metabolic bariatric surgery (MBS) can improve pregnancy outcomes for obese women and significantly reduce the occurrence of gestational diabetes (GD) compared to non-operated women with similar age and body mass index (BMI).
  • A study comparing pregnancies of women who had MBS to matched controls revealed a lower frequency of GD post-surgery (7.6% vs. 19%) and lower fasting blood glucose levels and birth weight for those who had the surgery.
  • However, MBS was also linked to a higher occurrence of small-for-gestational-age (SGA) babies, which became less significant after accounting for smoking habits, highlighting the need to balance benefits with potential risks associated with MBS during pregnancy.
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Gut microorganisms have been shown to significantly impact on central function and studies that have associated brain disorders with specific bacterial genera have advocated an anomalous gut microbiome as the pathophysiological basis of several psychiatric and neurological conditions. Thus, our knowledge of brain-to-gut-to microbiome communication in this bidirectional axis seems to have been overlooked. This review examines the known mechanisms of the microbiome-to-gut-to-brain axis, highlighting how brain-to-gut-to-microbiome signaling may be key to understanding the cause of disrupted gut microbial communities.

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Improved recovery of urinary small extracellular vesicles by differential ultracentrifugation.

Sci Rep

May 2024

Cancer Biology and Epigenetics Group, Research Center of IPO Porto (CI-IPOP)/CI-IPOP@RISE (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), R. Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.

Extracellular vesicles (EVs) are lipid-membrane enclosed structures that are associated with several diseases, including those of genitourinary tract. Urine contains EVs derived from urinary tract cells. Owing to its non-invasive collection, urine represents a promising source of biomarkers for genitourinary disorders, including cancer.

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Introduction: Single anastomosis duodeno-ileal bypass with sleeve gastrectomy (SADI-S) is a restrictive/hypoabsorptive procedure recommended for patients with obesity class 3. For safety reasons, SADI-S can be split into a two-step procedure by performing a sleeve gastrectomy (SG) first. This stepwise approach also provides an unprecedented opportunity to disentangle the weight loss mechanisms triggered by each component.

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Baló concentric sclerosis: Literature review and report of two cases.

J Neuroimmunol

July 2024

UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS-School of Medicine and Biomedical Sciences, University of Porto Porto Portugal, Portugal; ITR-Laboratory for Integrative and Translational Research in Population Health Porto Portugal, Portugal; Portuguese Brain Bank, Neuropathology Unit, Department of Neurosciences Centro Hospitalar, Universitário do Porto Porto, Portugal.

Background: Baló's concentric sclerosis (BCS) is a rare variant of multiple sclerosis characterized by unique pathological features of alternating demyelination and preserved myelin.

Objectives: To describe two cases of BCS, radiological and pathological findings and its clinical course.

Results: We report two distinct cases of BCS that presented with unique MRI findings suggestive of BCS, but with different clinical courses and responses to treatment.

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Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management of families with inherited genetic conditions.

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Spermatocytic tumors are rare testicular tumors occurring predominantly in older men. Most show a classical tripartite morphology (different from seminoma) and are benign. However, well-documented cases of malignant spermatocytic tumors exist.

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Opposing effects of the purinergic P2X7 receptor on seizures in neurons and microglia in male mice.

Brain Behav Immun

August 2024

Department of Physiology & Medical Physics, RCSI University of Medicine & Health Sciences, Dublin D02 YN77, Ireland; FutureNeuro, SFI Research Centre for Chronic and Rare Neurological Diseases, RCSI University of Medicine and Health Sciences, Dublin D02 YN77, Ireland. Electronic address:

Background: The purinergic ATP-gated P2X7 receptor (P2X7R) is increasingly recognized to contribute to pathological neuroinflammation and brain hyperexcitability. P2X7R expression has been shown to be increased in the brain, including both microglia and neurons, in experimental models of epilepsy and patients. To date, the cell type-specific downstream effects of P2X7Rs during seizures remain, however, incompletely understood.

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Simultaneous pancreas-kidney transplantation (SPKT) is the best treatment for selected individuals with type 1 diabetes mellitus and end-stage renal disease. Despite advances in surgical techniques, donor and recipient selection, and immunosuppressive therapies, SPKT remains a complex procedure with associated surgical complications and adverse consequences. We conducted a retrospective study that included 263 SPKT procedures performed between May 2000, and December 2022.

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Detection of tick-borne pathogens in Rhipicephalus bursa ticks collected from the autochthonous Garrano breed of horses in Portugal.

Vet Parasitol Reg Stud Reports

June 2024

EPIUnit - Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal; Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Porto, Portugal; ICBAS-School of Medicine and Biomedical Sciences, Porto University, Porto, Portugal.

Article Synopsis
  • The Garrano is an endangered, semi-feral horse breed from northern Spain that has adapted well to wild conditions despite environmental challenges.
  • The study focused on the role of ticks in spreading various pathogens, identifying Rhipicephalus bursa ticks from Garrano horses and testing them for diseases.
  • Findings revealed multiple pathogens, including Candidatus Rickettsia barbariae and several species of Babesia and Theileria, highlighting the need for ongoing monitoring of tick-borne infections in this horse population.
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Genetic profile of Brazilian patients with LAMA2-related dystrophies.

Clin Genet

September 2024

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.

Article Synopsis
  • LAMA2-related dystrophies (LAMA2-RD) are rare neuromuscular disorders with varying severity, and current understanding of their genetic and clinical traits is limited.
  • A retrospective study reviewed data from 114 patients in Brazil, discovering 58 different pathogenic variants, including 21 that were novel, with six variants noted as being highly prevalent among affected individuals.
  • The findings suggest specific genetic variants correlate with ambulatory abilities, revealing that certain mutations might impede walking, while others allow for unassisted movement, contributing to important insights in understanding this condition.
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The National School Health Program in Portugal advocates for healthy lifestyles. However, school health teams mostly focus their activities on educating children, whereas it is the families who are primarily responsible for managing children's lifestyles. Although the programme proposes interactive health education activities, such as meetings with the children's families, few parents participate in these activities.

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The elemental composition of chemical elements can vary between healthy and diseased tissues, providing essential insights into metabolic processes in physiological and diseased states. This study aimed to evaluate the calcium (Ca) and phosphorus (P) levels in the bones of rats with/without streptozotocin-induced diabetes and/or exposure to infrasound. X-ray fluorescence spectroscopy was used to determine the concentrations of Ca and P in Wistar rat tibiae samples.

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Preliminary outcomes of the Cervical Cancer Screening Program of Northern Portugal: A snapshot.

J Infect Public Health

June 2024

Cancer Biology & Epigenetics Group, Research Center of IPO Porto (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center - Raquel Seruca (Porto.CCC) & CI-IPOP@RISE (Health Research Network), R. Dr. António Bernardino de Almeida, Porto 4200-072, Portugal; Department of Pathology and Molecular Immunology, ICBAS - School of Medicine and Biomedical Sciences - University of Porto, Rua Jorge Viterbo Ferreira 228, Porto 4050-513, Portugal. Electronic address:

Background: Cervical cancer screening remains an essential preventive tool worldwide. First line high-risk Human Papillomavirus (HrHPV) genotyping became gold standard for cervical cancer screening, and has been adopted by several countries, including Portugal. Herein, we aimed to assess the early outcomes of the regional Cervical Cancer Screening Program of Northern Portugal.

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Early feeding and nutritional status of Portuguese children in the first 36 months of life: EPACI Portugal 2012-a national representative cross-sectional study.

Porto Biomed J

April 2024

Universidade Católica Portuguesa, CBQF-Centro de Biotecnologia e Química Fina-Laboratório Associado, Escola Superior de Biotecnologia, Porto, Portugal.

Background: Early feeding practices have a critical role in the future not only in health but also in modulating eating habits. This study aimed to assess breastfeeding and complementary feeding practices and the nutritional status of Portuguese toddlers aged 0-36 months.

Methods: EPACI Portugal 2012 is a cross-sectional study of a national representative sample.

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Defluorination as the key trait to gauge the biodegradability of fluorinated pollutants in environmental microbial communities.

Methods Enzymol

April 2024

CIIMAR-Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Porto, Portugal; ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal. Electronic address:

Research on microbial defluorination is largely centred on controlled experiments using axenic or well defined microbial inocula. These approaches serve a relevant purpose in the field, offering fundamental biochemical and mechanistic insights on the intricacies of biological defluorination. However, they fail to account for the effective contribution of environmental microbial communities in the recycling of fluoroorganic pollutants, a highly relevant perspective from an environmental risk assessment standpoint, while also missing an important outlook on how community-wide dynamics can leverage the breakdown of C─F bonds in these recalcitrant compounds.

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Coxiella burnetii is the etiologic agent of Q fever, a worldwide zoonosis. Cattle, sheep and goats are considered the main reservoirs of the disease. Transmission to humans occurs mainly through the inhalation of infectious aerosols from milk, faeces, urine, and birth products from infected ruminants.

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sp. nov., a novel marine actinobacterium isolated from deep-sea sediment of Madeira Archipelago, Portugal.

Int J Syst Evol Microbiol

April 2024

CIIMAR - Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Terminal de Cruzeiros do Porto de Leixões, Porto, Portugal.

A novel strain, MA3_2.13, was isolated from deep-sea sediment of Madeira Archipelago, Portugal, and characterized using a polyphasic approach. This strain produced dark brown soluble pigments, bronwish black substrate mycelia and an aerial mycelium with yellowish white spores, when grown on GYM 50SW agar.

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Actinomycetota, associated with macroalgae, remains one of the least explored marine niches. The secondary metabolism of Actinomycetota, the primary microbial source of compounds relevant to biotechnology, continues to drive research into the distribution, dynamics, and metabolome of these microorganisms. In this study, we employed a combination of traditional cultivation and metagenomic analysis to investigate the diversity of Actinomycetota in two native macroalgae species from the Portuguese coast.

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α-Synuclein triggers cofilin pathology and dendritic spine impairment via a PrP-CCR5 dependent pathway.

Cell Death Dis

April 2024

Neurodegeneration Team, Nerve Regeneration Group, IBMC -Instituto de Biologia Molecular e Celular and i3S - Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135, Porto, Portugal.

Cognitive dysfunction and dementia are critical symptoms of Lewy Body dementias (LBD). Specifically, alpha-synuclein (αSyn) accumulation in the hippocampus leading to synaptic dysfunction is linked to cognitive deficits in LBD. Here, we investigated the pathological impact of αSyn on hippocampal neurons.

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Juxtaglomerular cell tumor (JGCT) is a rare neoplasm, part of the family of mesenchymal tumors of the kidney. Although the pathophysiological and clinical correlates of JGCT are well known, as these tumors are an important cause of early-onset arterial hypertension refractory to medical treatment, their molecular background is unknown, with only few small studies investigating their karyotype. Herein we describe a multi-institutional cohort of JGCTs diagnosed by experienced genitourinary pathologists, evaluating clinical presentation and outcome, morphologic diversity, and, importantly, the molecular features.

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Atrazine (ATZ), a widely used herbicide with potent endocrine-disrupting properties, has been implicated in hormonal disturbances and fertility issues. Sertoli cells (SCs) play a crucial role in providing mechanical and nutritional support of spermatogenesis. Herein, we aimed to study the effects of environmentally relevant ATZ concentrations on the nutritional support of spermatogenesis provided by SCs.

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