The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.

Rare disorders that are genetically and clinically heterogeneous, such as mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most proteins involved in mitochondrial biogenesis, despite all mitochondria having their own DNA. The development of next-generation sequencing (NGS) technologies has revolutionized the understanding of many genes involved in the pathogenesis of MDs.

Digital health and cardiovascular healthcare professionals in Portugal: Current status, expectations and barriers to implementation.

Introduction And Objectives: Digital health (DH) is a broad concept, bringing together technology and healthcare, that is playing an increasingly important role in the daily routine of healthcare professionals (HCPs) and promises to contribute to the prevention and treatment of cardiovascular disease. There are no solid data on the position of Portuguese HCPs toward the implementation of DH in cardiovascular medicine. This national cross-sectional study aims to provide a snapshot of DH implementation in Portuguese cardiovascular HCP routines and to identify both expectations and barriers to its adoption.

Intraneural lipoma of the ulnar nerve: A rare case report and review.

Intraneural lipoma of the ulnar nerve is a rare peripheral nerve tumor in an uncommon location. Although its benign course, it can cause disabling symptoms such as pain, diminished sensation or paraesthesia, tenderness, and occasionally even loss of strength. We present the case of a middle age woman with insidious paresthesias and swelling of the hypothenar eminence of the left hand for over 1 year.

Impact of Coronary Artery Calcium Score Screening on Cardiovascular Risk Stratification of Patients with Atrial Fibrillation Undergoing Ablation.

Introduction: There is a well-established association between atrial fibrillation (AF) and coronary artery disease. Coronary artery calcium score (CACS) is a helpful tool to refine cardiovascular (CV) risk stratification and inform on the best strategies for primary CV prevention. This study aims to evaluate the impact of opportunistic screening with CACS on risk stratification and decision of preventive therapies, in patients with AF.

Clinical standards for the management of adverse effects during treatment for TB.

Adverse effects (AE) to TB treatment cause morbidity, mortality and treatment interruption. The aim of these clinical standards is to encourage best practise for the diagnosis and management of AE. 65/81 invited experts participated in a Delphi process using a 5-point Likert scale to score draft standards.

Higher coronary artery calcium score is associated with increased risk of atrial fibrillation recurrence after catheter ablation.

Background: Coronary artery calcium score (CACS) is associated with an increased risk of atrial fibrillation (AF) development, but scarce data are available regarding the impact on AF recurrence. This study aims to assess the impact of CACS on AF recurrence following catheter ablation.

Methods: Retrospective study of patients with AF undergoing cardiac computed tomography (CCT) before ablation (2017-2019).

Clinical standards for drug-susceptible pulmonary TB.

The aim of these clinical standards is to provide guidance on 'best practice´ for diagnosis, treatment and management of drug-susceptible pulmonary TB (PTB). A panel of 54 global experts in the field of TB care, public health, microbiology, and pharmacology were identified; 46 participated in a Delphi process. A 5-point Likert scale was used to score draft standards.

Metformin in non-diabetic patients with metabolic syndrome and diastolic dysfunction: the MET-DIME randomized trial.

Purpose: Metabolic syndrome (MetS) affects one out of 3 adults in the western world and is associated with preclinical diastolic dysfunction that impairs functional capacity and quality of life (QoL). This randomized trial was designed to evaluate if the addition of metformin to the standard treatment of non-diabetic patients with MetS improves diastolic dysfunction.

Methods: Prospective, randomized, open-label, blinded-endpoint trial.

Tenecteplase for thrombolysis in stroke patients: Systematic review with meta-analysis.

Introduction: Alteplase is an approved treatment for acute ischemic stroke. Tenecteplase is a genetically modified form of alteplase, with lower cost and a more favourable pharmacokinetic profile allowing bolus injection. The aim of this study was to compare both drugs in adult patients with acute ischemic stroke undergoing thrombolysis.

Social media in cardiovascular medicine: a contemporary review.

Social media increasingly impact both the private and professional lives of the majority of the population, including individuals engaged in cardiovascular healthcare and research. Healthcare providers across the world use social media platforms such as Twitter or Facebook to find medical and scientific information, to follow scientific meetings, to discuss individual clinical cases with colleagues, and to engage with patients. While social media provide a means for fast, interactive and accessible communication without geographic boundaries, their use to obtain and disseminate information has limitations and the potential threats are not always clearly understood.

Differential Impact of a Cardiac Rehabilitation Program on Functional Parameters in Elderly versus Non-Elderly Myocardial Infarction Survivors.

Background: Exercise-based cardiac rehabilitation (EBCR) plays a pivotal role in the management of acute myocardial infarction (AMI). Studies have shown that older individuals have a worse prognosis after an AMI, attesting to the importance of risk reduction strategies. We aimed at assessing the impact of age (patients dichotomized as ≥65 years old or <65 years old) on the functional benefits of an EBCR program among AMI survivors.

Tuberculosis Disease in Children and Adolescents on Therapy With Antitumor Necrosis Factor-ɑ Agents: A Collaborative, Multicenter Paediatric Tuberculosis Network European Trials Group (ptbnet) Study.

Background: In adults, anti-tumor necrosis factor-α (TNF-α) therapy is associated with progression of latent tuberculosis (TB) infection (LTBI) to TB disease, but pediatric data are limited.

Methods: Retrospective multicenter study within the Paediatric Tuberculosis Network European Trials Group, capturing patients <18 years who developed TB disease during anti-TNF-α therapy.

Results: Sixty-six tertiary healthcare institutions providing care for children with TB participated.

Different outcomes of a cardiac rehabilitation programme in functional parameters among myocardial infarction survivors according to ejection fraction.

Introduction: Exercise-based cardiac rehabilitation (EBCR) is part of the management of patients who have suffered an acute myocardial infarction (AMI). Patients with a reduced ejection fraction (EF) comprise a higher-risk subgroup and are referred less often for these programmes. This study aimed at assessing the impact of the baseline EF on the functional benefits, as assessed by peak oxygen uptake (pVO) and exercise duration, of an EBCR programme in AMI survivors.

Original Intracerebral Hemorrhage Score for the Prediction of Short-Term Mortality in Cerebral Hemorrhage: Systematic Review and Meta-Analysis.

Objectives: To systematically assess the discrimination and calibration of the Intracerebral Hemorrhage score for prediction of short-term mortality in intracerebral hemorrhage patients and to study its determinants using heterogeneity analysis.

Data Sources: PubMed, ISI Web of Knowledge, Scopus, and CENTRAL from inception to September 15, 2018.

Study Selection: Adult studies validating the Intracerebral Hemorrhage score for mortality prediction in nontraumatic intracerebral hemorrhage at 1 month/discharge or sooner.

Assessment and Comparison of the Four Most Extensively Validated Prognostic Scales for Intracerebral Hemorrhage: Systematic Review with Meta-analysis.

Background/objective: Intracerebral hemorrhage (ICH) is a devastating disorder, responsible for 10% of all strokes. Several prognostic scores have been developed for this population to predict mortality and functional outcome. The aim of this study was to determine the four most frequently validated and most widely used scores, assess their discrimination for both outcomes by means of a systematic review with meta-analysis, and compare them using meta-regression.

Time trends in antithrombotic management of patients with atrial fibrillation treated with coronary stents: Results from TALENT-AF (The internAtionaL stENT - Atrial Fibrillation study) multicenter registry.

Background: Antithrombotic management of patients with atrial fibrillation (AF) requiring percutaneous coronary intervention (PCI) is highly variable; limited evidence-based guidelines exist to influence practice.

Hypothesis: Patient characteristics and availability of novel drugs may have contributed to practice variability.

Methods: We undertook an international multicenter retrospective registry of AF patients treated with PCI.

Metabolic Syndrome Is Associated With Impaired Diastolic Function Independently of MRI-Derived Myocardial Extracellular Volume: The MESA Study.

The relationship of metabolic syndrome (MetS) and insulin resistance (one of its key pathophysiological mediators) with diastolic dysfunction and myocardial fibrosis is not well understood. This study aimed to evaluate the association of MetS with diastolic function and myocardial extracellular matrix (ECM) using cardiac MRI (CMRI) in a large community-based population. This cross-sectional analysis included 1,582 participants from the Multi-Ethnic Study of Atherosclerosis (MESA) with left ventricular ejection fraction ≥50% and no history of cardiac events.

Relaxin serum levels in acute heart failure are associated with pulmonary hypertension and right heart overload.

Aims: Despite the promising results of serelaxin as a new potential acute heart failure (HF) therapy, its clinical use preceded the understanding of the endogenous relaxin system in HF. We aimed to evaluate relaxin circulating levels in a population of acute HF and their association with clinical and echocardiographic parameters.

Methods And Results: We included 117 patients from a registry of acute HF.

Prevalence of Staphylococcus aureus from nares and hands on health care professionals in a Portuguese Hospital.

Aims: The main goal was to estimate the prevalence of methicillin-resistant Staphylococcus aureus on hands and in nose of health care professionals.

Methods And Results: Detection of Staph. aureus on hands or in the nose of 169 individuals was performed.

CT myocardial perfusion and coronary CT angiography: Influence of coronary calcium on a stress-rest protocol.

Background: High amounts of coronary artery calcium limit image quality and diagnostic accuracy of multidetector computed tomography (MDCT) angiography (CTA) regarding the assessment of obstructive coronary artery disease (CAD). CT myocardial perfusion imaging may represent an opportunity to overcome this limitation.

Objective: To explore the additive value of CT myocardial perfusion to CTA depending on the patient's calcium score and in comparison to the reference standard of invasive coronary angiography plus fractional flow reserve (FFR) measurement.

The Effect of Exercise Training on Diastolic and Systolic Function After Acute Myocardial Infarction: A Randomized Study.

After acute myocardial infarction (AMI), diastolic dysfunction is frequent and an important determinant of adverse outcome. However, few interventions have proven to be effective in improving diastolic function. We aimed to determine the effect of exercise training on diastolic and systolic function after AMI.

The role of a structured exercise training program on cardiac structure and function after acute myocardial infarction: study protocol for a randomized controlled trial.

Background: Exercise training is effective in improving functional capacity and quality of life in patients with coronary artery disease, but its effects on left ventricular systolic and diastolic function are controversial. Diastolic dysfunction is a major determinant of adverse outcome after myocardial infarction and, contrary to systolic function, no therapy or intervention has proved to significantly improve diastolic function. Data from animal studies and from patients with diastolic heart failure has suggested that exercise training can have a positive effect on diastolic function parameters.