Publications by authors named "Santana I"

Article Synopsis
  • A systematic review and meta-analysis examined the mortality risk from infectious diseases (excluding COVID-19) in individuals with severe mental illness (SMI) like schizophrenia and bipolar disorder.
  • The analysis included 29 studies, revealing that those with SMI are more than twice as likely to die from any infectious disease and over three times more likely to die from respiratory infections compared to the general population.
  • Variations in findings were influenced by factors such as the specific SMI diagnosis, gender, and the type of infection studied.
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Introduction: Interpersonal coordination is widely acknowledged as critical to relating with, connecting to, and understanding others, but the underlying mechanisms of this phenomenon are poorly understood. Dance-particularly improvised dance-offers a valuable paradigm for investigating the dynamics of interpersonal coordination due to its inherent ability to connect us. However, conventional approaches to studying coordination often fail to capture the co-creative spontaneity that is intrinsic to such interactions.

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Background And Objectives: Sleep dysfunction is common in patients with neurodegenerative disorders; however, its neural underpinnings remain poorly characterized in genetic frontotemporal dementia (FTD). Hypothalamic nuclei important for sleep regulation may be related to this dysfunction. Thus, we examined changes in hypothalamic structure across the lifespan in patients with genetic FTD and whether these changes related to sleep dysfunction.

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Background And Objectives: Pathogenic variants in the gene cause frontotemporal dementia (FTD-) with marked brain asymmetry. This study aims to assess whether the disease progression of FTD- depends on the initial side of the atrophy. We also investigated the potential use of brain asymmetry as a biomarker of the disease.

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Introduction: Genetic mutation carriers of frontotemporal dementia can remain cognitively well despite neurodegeneration. A better understanding of brain structural, perfusion, and functional patterns in the pre-symptomatic stage could inform accurate staging and potential mechanisms.

Methods: We included 207 pre-symptomatic genetic mutation carriers and 188 relatives without mutations.

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Background: Limited information is available on patients' experience living with Huntington's disease (HD). The primary objective of this study was to assess the health-related quality of life and well being of patients with HD.

Methods: A non-interventional, cross-sectional study was conducted in 17 hospitals-based movement disorders units in Spain.

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β-amyloid-targeting antibodies represent the first generation of effective causal treatment of Alzheimer's disease (AD) and can be considered historical research milestones. Their effect sizes, side effects, implementation challenges and costs, however, have stimulated debates about their overall value. In this position statement academic clinicians of the European Alzheimer's Disease Consortium (EADC) discuss the critical relevance of introducing these new treatments in clinical care now.

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Background And Objectives: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy.

Methods: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (), progranulin (), or microtubule-associated protein tau () gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers.

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Article Synopsis
  • Advanced oxidation processes (AOP) are highlighted as effective for removing organic contaminants, specifically targeting drug mixtures like atenolol and propranolol.
  • Two mixed catalysts were tested—pyrite with graphene oxide and pyrite with zinc oxide—using the photo-Fenton process with UV light, with the pyrite-zinc oxide combination showing the highest degradation rates at 88% and 84% for specific wavelengths.
  • Toxicity assessments revealed mixed results; while cabbage seeds had reduced germination rates post-treatment, watercress seeds showed no toxicity, underscoring the need to evaluate environmental impacts on different organisms.
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  • Alzheimer's disease (AD) heritability is high at 70-80%, yet many contributing factors remain unexplained, prompting a study to explore inheritance patterns in Portuguese AD patients.
  • The research involved roughly 3,090 participants, examining family history, parental birthplace, and their relationships to AD risk, particularly focusing on gender differences in hereditary influences.
  • Results indicate that men with a maternal history of dementia face higher AD risk, and proximity of parents' birthplaces correlates with increased risk and earlier onset of dementia, suggesting evidence for X-linked inheritance and impacts of consanguinity.
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The aim of this systematic review was to investigate the relationship between fractures of the floor of the orbit (blow outs) and their repercussions on eye movement, based on the available scientific literature. In order to obtain more reliable results, we opted for a methodology that could answer the guiding question of this research. To this end, a systematic review of the literature was carried out, using a rigorous methodological approach.

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Background: Inflammation has been proposed as a crucial player in neurodegeneration, including Frontotemporal Dementia (FTD). A few studies on sporadic FTD lead to inconclusive results, whereas large studies on genetic FTD are lacking. The aim of this study is to determine cytokine and chemokine plasma circulating levels in a large cohort of genetic FTD, collected within the GENetic Frontotemporal dementia Initiative (GENFI).

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Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood.

Objective: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI).

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The glymphatic system is an emerging target in neurodegenerative disorders. Here, we investigated the activity of the glymphatic system in genetic frontotemporal dementia with a diffusion-based technique called diffusion tensor image analysis along the perivascular space. We investigated 291 subjects with symptomatic or presymptomatic frontotemporal dementia (112 with [] expansion, 119 with [] mutations and 60 with [] mutations) and 83 non-carriers (including 50 young and 33 old non-carriers).

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Background: Inflammatory breast cancer (IBC) is a rare disease characterized by rapid progression, early metastasis, and a high mortality rate.

Methods: Genome-wide DNA methylation analysis (EPIC BeadChip platform, Illumina) and somatic gene variants (105 cancer-related genes) were performed in 24 IBCs selected from a cohort of 140 cases.

Results: We identified 46,908 DMPs (differentially methylated positions) (66% hypomethylated); CpG islands were predominantly hypermethylated (39.

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Introduction: The search to optimize the healing and bone repair processes in oral and maxillofacial surgeries reflects the constant evolution in clinical practice, driven by the demand for increasingly satisfactory results and the need to minimize postoperative complications.

Objective: To evaluate the efficacy of Platelet and Leukocyte Rich Fibrin (L-PRF) in the healing and bone repair process in oral and maxillofacial surgeries.

Materials And Methods: The systematic review protocol for this study included the definition of the research question, the domain of the study, the databases searched, the search strategy, the inclusion and exclusion criteria, the types of studies to be included, the measures of effect, the methods for screening, data extraction and analysis, and the approach to data synthesis.

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Article Synopsis
  • LCINS accounts for 20% of lung cancer cases, with the study focusing on the molecular profile of driver genes in Brazilian patients who never smoked.
  • The investigation involved studying mutational and gene fusion status in 119 lung adenocarcinomas using advanced sequencing techniques, alongside genetic ancestry analysis.
  • Results showed high mutation rates in genes like EGFR and TP53, with significant findings on ancestry influencing mutation patterns, and highlighted that a large percentage of patients have potential targets for effective treatment.
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Seaweed, a diverse and abundant marine resource, holds promise as a renewable feedstock for bioplastics due to its polysaccharide-rich composition. This review explores different methods for extracting and processing seaweed polysaccharides, focusing on the production of alginate plastic materials. Seaweed emerges as a promising solution, due to its abundance, minimal environmental impact, and diverse industrial applications, such as feed and food, plant and soil nutrition, nutraceutical hydrocolloids, personal care, and bioplastics.

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The present study explored the utilization of Rugulopteryx okamurae (RO), an invasive brown seaweed, as a renewable raw material for plastic materials based on biopolymer blends. The goal of this study was to improve the previously observed poor mechanical properties of materials based on single biopolymer RO. To enhance these properties, two polymers with distinct hydrophobicities were incorporated into the formulation of different blends: hydrophobic polycaprolactone (PCL) and hydrophilic acylated soy protein isolate (SPIa).

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Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, known for its heterogeneity and treatment-associated toxicity, and there is a critical need for new therapeutic targets. We analyzed the somatic mutation profile of 15 driver genes in 69 Latin-Iberian molecularly characterized medulloblastomas using the Illumina TruSight Tumor 15 panel. We classified the variants based on their clinical impact and oncogenicity.

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Article Synopsis
  • The study examined how cognitive specialists diagnose and manage functional cognitive disorder (FCD) compared to neurodegenerative diseases, using clinical vignettes for assessment.
  • Forty-five experts from 12 countries effectively distinguished between FCD and neurodegeneration, accurately diagnosing all neurodegenerative cases, but only 75%-88% of FCD cases were correctly classified due to varied terminology.
  • The findings highlight the need for improved agreement on FCD terminology and more research into validation and diagnostic tools, while suggesting that management strategies should include diagnostic communication and referrals for psychotherapy.
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Article Synopsis
  • Effective longitudinal biomarkers, like cerebral perfusion, are crucial for tracking disease progression in presymptomatic genetic frontotemporal dementia (FTD) carriers.
  • The study examined cerebral perfusion in various genetic FTD groups using advanced MRI techniques and found declines in gray matter perfusion across all groups, with specific regional patterns.
  • Results suggest that monitoring cerebral perfusion could serve as an early biomarker for detecting FTD before symptoms appear, especially highlighting differences among genetic subgroups.
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Introduction: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD).

Methods: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI).

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