Addressing Challenges to Enhance Clinical Research in Portugal: Insights from the OncoT3 Expert Group Delphi Study.

Introduction Over the past decades, clinical research has evolved significantly, driven by advances in regulatory frameworks, technological innovations, and methodological approaches. In Portugal, while there has been progress - such as increased regulatory alignment with European standards and the adoption of digital trial management tools - various challenges remain. These may include, among others, limited access to funding, slower patient recruitment rates, and regulatory hurdles that can delay trial approvals.

Pulmonary arterial hypertension: Navigating the pathways of progress in diagnosis, treatment, and patient care.

Pulmonary arterial hypertension (PAH) is a form of precapillary pulmonary hypertension caused by a complex process of endothelial dysfunction and vascular remodeling. If left untreated, this progressive disease presents with symptoms of incapacitating fatigue causing marked loss of quality of life, eventually culminating in right ventricular failure and death. Patient management is complex and based on accurate diagnosis, risk stratification, and treatment initiation, with close monitoring of response and disease progression.

Assessment of calcinosis in Portuguese patients with systemic sclerosis - a multicenter study.

Introduction/objectives: The study aims to define the clinical and subclinical calcinosis prevalence, the sensitivity of radiographed site and clinical method for its diagnosis, and the phenotype of Portuguese systemic sclerosis (SSc) patients with calcinosis.

Method: A cross-sectional multicenter study was conducted with SSc patients fulfilling Leroy/Medsger 2001 or ACR/EULAR 2013 classification criteria, registered in the Reuma.pt.

Epidemiology of bacteremia in a pediatric population - A 10-year study.

Introduction: With the widespread introduction of conjugate meningococcal and pneumococcal vaccines, the prevalence and etiology of invasive bacterial infections have changed. We aimed to review all cases of bacteremia in a level II pediatric department over a ten-year period in the post-pneumococcal conjugate vaccine era.

Methods: We reviewed all positive blood cultures (BC) obtained in our department between 2007 and 2016.

The safety and persistence of intravenous iloprost in systemic sclerosis.

Introduction: Vasculopathy is a crucial feature of systemic sclerosis (SSc). It occurs in almost every patient with SSc, with Raynaud's phenomenon (RP) and digital ulcers (DU) having a great impact on the quality of patients' lives. Intravenous (IV) iloprost, a synthetic analogue of prostacyclin, is broadly used to treat RP and DU secondary to SSc.

Clinical features and outcome of 1054 patients with Systemic Sclerosis: analysis of Reuma.pt/SSc registry.

Background: Systemic sclerosis (SSc) is a rare connective tissue disorder with heterogeneous manifestations and outcomes. Besides differences in disease characteristics among distinct ethnic groups and geographical regions, several questions regarding the impact of the disease and the effectiveness of treatments remain unanswered. To address these questions, the Rheumatic Diseases Portuguese Register (Reuma.

Ten years of a systemic sclerosis clinic in a tertiary referral centre - insights and future directions.

Systemic sclerosis (SSc) is an uncommon condition, with a wide range of manifestations, characterized by specific antibody production, vasculopathy and fibrosis of the skin and other internal organs. It is a complex disease, which is estimated to be rare in Portugal, although specific incidence data are missing. The aetiology of SSc remains unknown, but is likely to be multifactorial, involving genetic and environmental aspects.

Epidemiology of bacteremia in a pediatric population - A 10-year study.

Introduction: With the widespread introduction of conjugate meningococcal and pneumococcal vaccines, the prevalence and etiology of invasive bacterial infections have changed. We aimed to review all cases of bacteremia in a level II pediatric department over a ten-year period in the post-pneumococcal conjugate vaccine era.

Methods: We reviewed all positive blood cultures (BC) obtained in our department between 2007 and 2016.

[Venous Thromboembolism in Pediatric Age: A 15 Year Retrospective Review].

Introduction: Pulmonary thromboembolism and deep venous thrombosis occur in pediatric age, with unknown incidence, morbidity and mortality. Our aim is to review the epidemiology, clinical presentation, complementary diagnostic tests and prognosis of patients with pulmonary thromboembolism and deep venous thrombosis.

Material And Methods: Retrospective, descriptive and analytical study of pediatric patients admitted to a Level II hospital for pulmonary thromboembolism and deep venous thrombosis, between 2000 and 2014.

Congenital disorders of glycosylation with neonatal presentation.

Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly.

BAFF and TACI gene expression are increased in patients with untreated very early rheumatoid arthritis.

Objective: B cells play important roles in rheumatoid arthritis (RA). Given the beneficial effect of B cell depletion therapy in RA as well as the observed alterations in B cell subpopulations in this disease, we evaluated whether changes in the expression of genes related to B cell survival and activation were already present in patients with untreated very early RA (VERA; < 6 weeks of disease duration).

Methods: The expression of a group of B cell-related activation and survival genes was quantified in peripheral blood mononuclear cells from patients with VERA by real-time PCR and compared with untreated early RA (< 1 year), established treated RA, and other untreated early arthritis conditions.

Bilateral evaluation of the hand and wrist in untreated early inflammatory arthritis: a comparative study of ultrasonography and magnetic resonance imaging.

Objective: To compare Doppler ultrasound (US) and 3.0-Tesla magnetic resonance imaging (3.0-T MRI) findings of synovial inflammation in the tendons and joints in an early polyarthritis cohort (patients who presented < 1 year after arthritis onset) using a bilateral hand and wrist evaluation.

Bilateral MR imaging of the hand and wrist in early and very early inflammatory arthritis: tenosynovitis is associated with progression to rheumatoid arthritis.

Purpose: To identify bilateral hand and wrist findings of synovial inflammation associated with progression to rheumatoid arthritis (RA) in very-early-RA cohort (VERA) (duration, <3 months) and early-RA cohort (ERA) (duration, <12 but >3 months), to test tenosynovitis as a magnetic resonance (MR) imaging additional parameter for improving diagnostic accuracy of the 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) RA classification criteria, and to evaluate the symmetry of joint and tendon involvement.

Materials And Methods: With institutional review board approval and informed consent, 32 women and three men (mean age, 45 years) with untreated recent-onset inflammatory arthritis participated in this prospective study and underwent MR imaging of both wrists and hands. After 12-month follow-up, 25 patients fulfilled the criteria for RA (10 VERA and 15 ERA patients).

[Causes and consequences of glycated hemoglobin variability on pediatric population].

Background: Type one diabetes mellitus is the second most frequent disease in childhood, presenting with serious complications when inadequately controlled. The most useful measure of metabolic control is hemoglobin A1c (HbA1c), being essential the awareness of the causes of its variability.

Aim: to evaluate the effect of age and time of disease on HbA1c; to evaluate the relationship between HbA1c and serum lipid and microalbuminuria values.

Markers of progression to rheumatoid arthritis: discriminative value of the new ACR/EULAR rheumatoid arthritis criteria in a Portuguese population with early polyarthritis.

Objectives: Our goal was to test the performance of the new American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) criteria for the classification of rheumatoid arthritis (RA) in a cohort of patients with very recent onset polyarthritis.

Patients: Untreated polyarthritis patients with less than 6 weeks of duration were enrolled. All patients were followed-up in order to establish a definitive diagnosis.

Dynamic contrast-enhanced 3-T magnetic resonance imaging: a method for quantifying disease activity in early polyarthritis.

Objective: To determine whether measurement of synovial enhancement and thickness quantification parameters with 3.0-Tesla magnetic resonance imaging (3-T MRI) can reliably quantify disease activity in patients with early polyarthritis.

Materials And Methods: Eighteen patients (16 women, 2 men; mean age 46 years) with early polyarthritis with less than 12 months of symptoms were included.

Ankylosing spondylitis susceptibility and severity--contribution of TNF gene promoter polymorphisms at positions -238 and -308.

Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis.