Publications by authors named "Fraga M"

Objectives: To investigate baseline patient characteristics associated with the risk of computed tomography (CT)-based sarcopenia and assess whether sarcopenia and other morphometric parameters influence survival outcomes in patients with liver metastases and cholangiocarcinoma after Yttrium-90 radioembolization.

Materials And Methods: We retrospectively analyzed 120 cancer patients (mean age, 62 ± 13.3 years, 61 men) who underwent preprocedural CT.

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A hallmark of chronic and inflammatory diseases is the formation of a fibrotic and stiff extracellular matrix (ECM), typically associated with abnormal, leaky microvascular capillaries. Mechanisms explaining how the microvasculature responds to ECM alterations remain unknown. Here, we used a microphysiological model of capillaries on a chip mimicking the characteristics of healthy or fibrotic collagen to test the hypothesis that perivascular cells mediate the response of vascular capillaries to mechanical and structural changes in the human ECM.

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Oral squamous cell carcinoma (OSCC) is the most common manifestation of oral cancer. It has been proposed that periodontal pathogens contribute to OSCC progression, mainly by their virulence factors. However, the main periodontal pathogen and its mechanism to modulate OSCC cells remains not fully understood.

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Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been completely elucidated. We performed a comprehensive multi-omics integration analysis, including genomic, epigenomic, and transcriptomic data from fibroblasts derived from a cohort of MSUD patients and unaffected controls to genetically characterize an MSUD case and to unravel the MSUD pathophysiology.

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Objectives: Considering the fact that resin infiltrants lack antibacterial activity, this study assessed the influence of the quaternary ammonium monomer dimethylaminohexadecyl methacrylate (DMAHDM) and amorphous calcium phosphate nanoparticles (NACP) on the physical and antibacterial properties of an experimental resin infiltrant (ERI).

Methodology: The following groups were established: ERI (75/25 wt.% TEGDMA/BISEMA), ERI + 2.

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Rural, indigenous populations in Mexico face barriers to accessing sexual and reproductive health (SRH) resources and services. Given the lack of information to inform educational materials tailored to the needs of these indigenous communities, we aimed to: (a) quantitatively characterise the SRH awareness and practices among adolescents and adults in a rural, mostly indigenous community in northern Mexico and (b) qualitatively assess community perspectives on an educational pamphlet with SRH information (e.g.

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DNA methylation is a widely studied epigenetic mark which in mammals involves the incorporation of a methyl group to the fifth carbon of cytosines, mainly those belonging to CpG dinucleotides. It has been linked to context-dependent regulatory functions ranging from gene and repetitive DNA silencing to gene body transcriptional activity. Because of its important roles during embryonic development and cell differentiation, DNA methylation can be used to track cell reprogramming by measuring the methylation levels of pluripotency-associated factors.

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Introduction: Local treatment can be distressful to breast cancer patients. We aimed to evaluate how different types of local treatment impact the quality of life of patients.

Methods: In this retrospective cohort study, one-year postoperative Breast-Q Satisfaction with Breasts scores were used as a surrogate for Quality of Life.

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Background: Hypertrophic cardiomyopathy is an autosomal dominant cardiac disease. The mechanisms that determine its variable expressivity are poorly understood. Epigenetics could play a crucial role in bridging the gap between genotype and phenotype by orchestrating the interplay between the environment and the genome regulation.

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Article Synopsis
  • The study aimed to assess disease activity, muscle strength, and functional abilities in newly diagnosed juvenile dermatomyositis (JDM) patients over a 2-year period.
  • A total of 96 JDM patients were evaluated at diagnosis and at 6, 12, 18, and 24 months using various clinical assessment tools, showing significant improvements in some areas, particularly in the first 6 months.
  • Despite overall improvement in disease activity scores, some measures like childhood myositis and disability indices showed no significant progress, indicating ongoing functional impairment.
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Fontan surgery is vital for infants born with a single-ventricle heart. This intervention establishes a new blood flow circuit bypassing the single ventricle, thereby the separating pulmonary and systemic circulation to preserve single ventricular function. However, it carries risks of hepatic complications, collectively termed Fontan-associated liver disease (FALD), characterized by progressive hepatic congestion and fibrosis potentially leading to an equivalent of cirrhosis.

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Refugees usually face a disproportionate burden of infectious diseases. Recently, Brazil has experienced an influx of refugees which demands the need for scaling up public health efforts to address the challenges. The research sought to study the burden and risk factors associated with infectious diseases among refugees received in the city of Porto Alegre.

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Cirrhosis is a major health concern worldwide with a complex pathophysiology affecting various biological systems, including all aspects of haemostasis. Bleeding risk is mainly driven by portal hypertension, but in end-stage liver disease it is further increased by alterations in haemostatic components, including platelet function, coagulation, and fibrinolysis. Concurrently, patients with cirrhosis are prone to venous thromboembolic events (VTE) because of the altered haemostatic balance, in particular an increase in thrombin generation.

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B-cell acute lymphoblastic leukemia (B-ALL) is the most common pediatric cancer, with long-term overall survival rates of ∼85%. However, B-ALL harboring rearrangements of the MLL gene (also known as KMT2A), referred to as MLLr B-ALL, is common in infants and is associated with poor 5-year survival, relapses, and refractoriness to glucocorticoids (GCs). GCs are an essential part of the treatment backbone for B-ALL, and GC resistance is a major clinical predictor of poor outcome.

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In this contribution, nanocatalysts with rather diverse architectures were designed to promote different intimacy degrees between Cu and SiO and consequently tune distinct Cu-SiO interactions. Previously synthesized copper nanoparticles were deposited onto SiO (NPCu/SiO) in contrast to ordinarily prepared supported Cu/SiO. NPCu@SiO and SiO@Cu core-shell nanocatalysts were also synthesized, and they were all bulk and surface characterized by XRD, TGA, TEM/HRTEM, H-TPR, XANES, and XPS.

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Article Synopsis
  • Short telomeres, which can result from mutations in telomere maintenance genes, are linked to a condition called short telomere syndrome (STS), which includes hepatic issues like porto-sinusoidal vascular disorder (PSVD).
  • A study of 22 patients with histologically confirmed idiopathic PSVD found that 73% had short or very short telomeres, with significant associations to conditions like portal hypertension and chronic kidney disease.
  • The findings suggest a notable prevalence of short telomeres in PSVD patients, hinting that telomere biology might play a crucial role in liver vascular diseases, prompting clinicians to consider telomere measurement in these cases.
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  • - Aging leads to a decline in bodily functions and the development of various diseases, but environmental factors like lifestyle choices can impact this decline and promote healthier aging.
  • - Research conducted on male mice reveals changes in the hippocampus as they age, including inflammation and issues with how mRNA is processed, along with modifications to their genetic structure.
  • - By providing enriched environments for these mice, many age-related changes were reversed, particularly in pathways linked to brain support cells, suggesting that lifestyle choices can have a significant effect on aging at a molecular level.
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Background And Aim: Direct-acting antivirals (DAAs) have revolutionised the management of chronic hepatitis C. We analysed the use of different generations of DAAs over time in Switzerland and investigated factors predictive of treatment failure.

Methods: This retrospective study was conducted within the framework of the Swiss Association for the Study of the Liver and the Swiss Hepatitis C Cohort Study; it included all patients with chronic hepatitis C treated with DAAs between January 2015 and December 2019 at eight Swiss referral centres.

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Patient education in acute myeloid leukemia (AML) has become increasingly complex with the introduction of new treatments and chemotherapy regimens. Video education presents an opportunity to supplement traditional patient education and address some of the gaps associated with standard methods. This single-center study sought to assess the potential impact of supplemental video education on patients receiving induction chemotherapy for AML.

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Introduction: Ammonia is a pathogenic factor implicated in the progression of metabolic-associated steatotic liver disease (MASLD). The contribution of the glutaminase 1 (GLS) isoform, an enzyme converting glutamine to glutamate and ammonia, to hepatic ammonia build-up and the mechanisms underlying its upregulation in metabolic-associated steatohepatitis (MASH) remain elusive.

Methods: Multiplex transcriptomics and targeted metabolomics analysis of liver biopsies in dietary mouse models representing the whole spectra of MASLD were carried out to characterize the relevance of hepatic GLS during disease pathological progression.

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Neuroendocrine neoplasms (NENs) encompass tumors arising from neuroendocrine cells in various organs, including the gastrointestinal tract, pancreas, adrenal gland, and paraganglia. Despite advancements, accurately predicting the aggressiveness of gastroenteropancreatic (GEP) NENs based solely on pathological data remains challenging, thereby limiting optimal clinical management. Our previous research unveiled a crucial link between hypermethylation of the protocadherin PCDHGC3 gene and neuroendocrine tumors originating from the paraganglia and adrenal medulla.

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Article Synopsis
  • Temple syndrome (TS14) is a rare genetic disorder caused by issues with parental gene expression, leading to developmental delays and growth problems in affected individuals.
  • A study on a 2-year-old girl showed symptoms like language delay, small stature, and early puberty, prompting genetic testing to pinpoint the underlying cause.
  • The genetic analysis revealed a deletion of the DLK1 gene from the father, resulting in abnormal gene methylation patterns that align with the clinical profile of Temple syndrome.
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Point-of-care ultrasound (POCUS) has increasingly been used by neonatal providers in neonatal intensive care units in the United States. However, there is a lack of literature addressing the complexities of POCUS coding and billing practices in the United States. This article describes the coding terminology and billing process especially those relevant to neonatal POCUS.

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