Publications by authors named "Isabel Tavares"

Background: Cancer is a leading cause of death in Europe and prevention measures, like screening, are therefore becoming increasingly important. Although European countries provide universal health coverage, including cancer screenings, many people also have private health insurance.

Aim: The aim of this study is to analyse the relationship between Voluntary private health insurance (VPHI) and cancer screening, specifically breast and colorectal cancer screening.

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  • * A genetic study of a Portuguese family with familial juvenile hyperuricemic nephropathy discovered a large deletion in the UMOD gene linked to both CKD and hyperuricemia/gout, highlighting a new case of ADTKD-UMOD.
  • * The study also identified an ultra-rare variant in the SLC8A1 gene, associated with earlier symptom onset, but the deletion's specific pathogenic mechanisms remain unclear and necessitate further investigation.
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  • Antibody-mediated rejection (AMR) is a common problem after kidney transplants and can cause the new kidney to fail.
  • A 48-year-old woman who got a new kidney after being on dialysis had early signs of AMR, even though she didn't have antibodies before the surgery.
  • Scientists found that her body's reaction was because she had previous pregnancies that created similar antibodies, and her husband’s tissue matched some parts of the donor’s kidney, causing the immune response.
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Hereditary xanthinuria (HXAN) is a rare metabolic disorder that results from mutations in either the xanthine dehydrogenase (XDH) or the molybdenum cofactor sulfurase genes (MOCOS), respectively defining HXAN type I and type II. Hypouricemia, hypouricosuria, and abnormally high plasma and urine levels of xanthine, causing susceptibility to xanthine nephrolithiasis and deposition of xanthine crystals in tissues, are the metabolic hallmarks of HXAN. Several pathogenic variants in the XDH gene have so far been identified in patients with HXAN type I, but the clinical phenotype associated with the whole deletion of the human XDH gene is unknown.

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Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is the most frequent mitochondrial DNA defect, and it causes several different clinical syndromes, such as mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the maternally inherited diabetes and deafness (MIDD) syndromes.

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As nephrology practice is evolving toward precision medicine, and genetic tests are becoming widely available, basic genetic literacy is increasingly required for clinical nephrologists. Yet, decisions based on results of genetic tests are seldom straightforward. We report a 37-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) who was referred for medically assisted reproduction with monogenic preimplantation genetic testing (PGT-M).

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Light chain amyloidosis (AL) is a complex disorder defined by the extracellular deposition of insoluble amyloid fibrils formed by intact or fragmented immunoglobulin light chains, leading to cell dysfunction, rapid organ deterioration, and, ultimately, death. Although the clinical presentation of AL is directly connected to organ involvement, signs and symptoms of AL are frequently nonspecific, misinterpreted, and late recognized. Thus, an early diagnosis combined with effective therapies to cease disease progression and rescue organ function is essential.

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Objectives: This study aimed to analyze characteristics of mpox hospitalization in a Brazilian cohort, further exploring the impact of HIV on mpox-related outcomes and hospitalization.

Design: We conducted a descriptive analysis, comparing characteristics of individuals diagnosed with mpox according to hospitalization and HIV status, and described the mpox cases among those living with HIV.

Methods: This was a single-center, prospective cohort study conducted at a major infectious diseases referral center in Rio de Janeiro, Brazil, that enrolled participants older than 18 years of age diagnosed with mpox.

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Parvovirus B19 (B19V) infection varies clinically depending on the host's immune status. Due to red blood cell precursors tropism, B19V can cause chronic anemia and transient aplastic crisis in patients with immunosuppression or chronic hemolysis. We report three rare cases of Brazilian adults living with human immunodeficiency virus (HIV) with B19V infection.

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Chikungunya fever is a viral disease transmitted by mosquitoes of the genus Aedes. The infection is usually symptomatic and most common symptoms are fever accompanied by joint pain and swelling. In most cases symptoms subside within a week.

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Background: Apart from ATTR amyloidosis, the epidemiology and outcomes of the most common subtypes of systemic amyloidosis in Portugal remain primarily unknown.

Methods: This retrospective cohort study evaluated patients with renal biopsy-proven amyloidosis, diagnosed from January 1978 to December 2019. Follow-up started at kidney disease presentation and ended at death or August 2020.

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Objective: To develop and validate a patient knowledge questionnaire regarding axial spondyloarthritis (axSpA).

Methods: Knowledge considered essential for patients with axSpA was identified through Delphi rounds among rheumatologists, healthcare professionals (HCPs), and patients, then reformulated to develop the knowledge questionnaire. Cross-sectional validation was performed in 14 rheumatology departments to assess internal validity (Kuder-Richardson coefficient), external validity, acceptability, reproducibility (Lin concordance correlation coefficient), and sensitivity to change (knowledge score before vs after patient education sessions and effect size).

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Posttransplant lymphoproliferative disorders (PTLDs) are a feared complication after transplant. They are mostly of B cell origin and are frequently Epstein-Barr virus (EBV)-positive, particularly in early onset PTLD. Later on, non-B and EBV-negative PTLD are increasingly reported.

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The pressing need to develop a specific analytical sensor that can identify and quantify Fe(II) without a cytotoxic response was the major motivation drive in this work. The turn-on fluorescent sensor here described can successfully detect Fe(II) and discriminate this ion from other analytes that commonly act as interferents in biological media. Moreover, this reduced fluoresceinamine-based sensor has a high photostability and high dissociation constant, which is an indication that the complex obtained between reduced fluoresceinamine (RFL) and Fe(II) is highly stable.

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Unlabelled: L-asparaginase is used for the treatment of acute lymphoblastic leukaemia. Hypertriglyceridaemia is a side effect and associated with potentially fatal complications, including acute pancreatitis. Plasmapheresis may have a role in treatment when triglycerides are >2000 mg/dl.

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Intracellular protozoan of the genus , endemic in the Mediterranean basin, are the cause of cutaneous (CL), mucocutaneous (MCL), and visceral leishmaniasis (VL). A 75-year-old woman was admitted nine years after a second kidney transplant (KT), due to persistent pancytopenia and fever. She presented edema and erythema of the nose in the last two years and an exophytic nodular lesion located on the left arm, with areas of peripheral necrosis and central ulceration in the last 18 months.

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Article Synopsis
  • Amyloidosis involves disorders where insoluble protein aggregates accumulate outside cells, requiring precise identification for effective treatment.
  • The case discussed focuses on a rare type called apolipoprotein A-IV cardiac amyloidosis, diagnosed through advanced mass spectrometry techniques.
  • Key takeaways include improving differential diagnosis of cardiac amyloidosis types by using imaging and tissue analysis, along with the benefits of mass spectrometry in diagnosis.
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Background, Aims And Methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity.

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Background: Hepatitis B virus (HBV) reactivation in kidney transplant recipients (KTR) involves important morbidity and mortality. Despite being more common in patients who are HBsAg-positive, it may occur in patients with clinically resolved infection (HBsAg-negative and anti-HBc-positive), in whom the presence of the protective anti-HB antibody is thought to decrease the risk of reactivation. Data regarding reactivation rates in this population are scarce.

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Background: Influenza-like illness occurs annually worldwide, with peak timing and severity varying seasonally, resulting in significant annual mortality.

Objectives: There were three objectives: (1) to describe the epidemiological and clinical features of hospitalised patients with severe acute respiratory infection caused by influenza and other respiratory viruses (ORVs); (2) to report the influenza seasonality in the region and (3) to correlate findings of influenza circulation and immunisation time in Brazil.

Patients/methods: This study took place in three Brazilian hospitals located in cities with different climatic conditions (Curitiba (south), Rio de Janeiro (south-east) and Fortaleza (north-east)).

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