Cardiopulmonary exercise testing in clinical practice: Principles, applications, and basic interpretation.

Cardiopulmonary exercise testing (CPET) provides a noninvasive and integrated assessment of the response of the respiratory, cardiovascular, and musculoskeletal systems to exercise. This information improves the diagnosis, risk stratification, and therapeutic management of several clinical conditions. Additionally, CPET is the gold standard test for cardiorespiratory fitness quantification and exercise prescription, both in patients with cardiopulmonary disease undergoing cardiac or pulmonary rehabilitation programs and in healthy individuals, such as high-level athletes.

Twelve-year trends in unprotected left main coronary artery occlusion: insights from a real-world multicentre study.

Aims: Acute myocardial infarction (AMI) resulting from unprotected left main coronary artery (LMCA) occlusion and subtotal occlusion is a life-threatening condition. Although AMI management has improved in the past two decades, there is limited information on recent trends in patient characteristics, management, and outcomes for acute unprotected LMCA-related AMI. This study aims to assess such trends over a 12 year period.

Advancing Precision Medicine: A Review of Innovative In Silico Approaches for Drug Development, Clinical Pharmacology and Personalized Healthcare.

The landscape of medical treatments is undergoing a transformative shift. Precision medicine has ushered in a revolutionary era in healthcare by individualizing diagnostics and treatments according to each patient's uniquely evolving health status. This groundbreaking method of tailoring disease prevention and treatment considers individual variations in genes, environments, and lifestyles.

Standard Doses of Cholecalciferol Reduce Glucose and Increase Glutamine in Obesity-Related Hypertension: Results of a Randomized Trial.

In arterial hypertension, the dysregulation of several metabolic pathways is closely associated with chronic immune imbalance and inflammation progression. With time, these disturbances lead to the development of progressive disease and end-organ involvement. However, the influence of cholecalciferol on metabolic pathways as a possible mechanism of its immunomodulatory activity in obesity-related hypertension is not known.

Exploring Darunavir, Rilpivirine and Etravirine as Potential Therapies for Bladder Cancer: Efficacy and Synergistic Effects.

This research explores the therapeutic efficacy of Darunavir (DRV), Rilpivirine (RPV), and Etravirine (ETV) against UM-UC-5 bladder cancer cells, addressing the critical need for innovative treatments in bladder cancer research. Through a comprehensive assessment of their individual and combined effects across diverse time intervals, ETV emerges as the most potent drug, with a lowest IC of 5.9 µM, closely followed by RPV (lowest IC of 9.

A Proof-of-Concept for a Hypolipidemic Brown Trout Model.

The impacts of hypolipidemic pharmaceuticals on fish lipid metabolism remain unexplored. However, data points to similar effects and mechanisms of action between fish and humans. Therefore, fish may be a strong model for screening hypolipidemic drug candidates and water pollution by lipid-modulating agents.

Uncovering microplastics contamination in canned seafood.

There is limited research on the occurrence of microplastics (MPs) in canned seafood. All types of canned seafood investigated in the present study were contaminated. After sample digestion in 30 % hydrogen peroxide, a total of 40 MPs were recovered.

Clinical performance of the iPREDICTLIVING tool for the prediction of the post-transplant recipient and living donor outcomes in a European cohort.

A living donor kidney transplant (LDKT) is the best treatment for ESRD. A prediction tool based on clinical and demographic data available pre-KT was developed in a Norwegian cohort with three different models to predict graft loss, recipient death, and donor candidate's risk of death, the iPREDICTLIVING tool. No external validations are yet available.

Management of infusion-related reactions in cancer therapy: strategies and challenges.

Several anticancer therapies have the potential to cause infusion-related reactions (IRRs) in the form of adverse events that typically occur within minutes to hours after drug infusion. IRRs can range in severity from mild to severe anaphylaxis-like reactions. Careful monitoring at infusion initiation, prompt recognition, and appropriate clinical assessment of the IRR and its severity, followed by immediate management, are required to ensure patient safety and optimal outcomes.

Modification of Huntington's disease by short tandem repeats.

Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington's disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat. Expanded CAG repeats are also somatically unstable in certain tissues, and age-at-onset of Huntington's disease corrected for individual CAG repeat length (i.

Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities.

This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and two individual interviews with 34 healthcare professionals working in medical genetics services across Portugal. The data were analyzed thematically, resulting in three primary themes: i) informing patients about the risk to relatives; ii) ensuring patient confidentiality; and iii) encouraging family communication.

The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists.

In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice.

Influence of preconception body mass index on perinatal outcomes after metabolic and bariatric surgery.

Introduction: Metabolic and bariatric surgery (MBS) is a very effective weight loss intervention, although does not invariably reverses the obesity status. Our aim was to evaluate whether despite successful weight loss after MBS, persistence of obesity at time of conception still carries additional risks of adverse perinatal pregnancy outcomes.

Methods: Retrospective study comparing pregnancy outcomes of women previously submitted to MBS with a preconception (PC) body mass index BMI < 30 kg/m or PC BMI ≥ 30 kg/m.

A Surprising Repurposing of Central Nervous System Drugs against Squamous Cell Carcinoma of the Bladder, UM-UC-5.

The potential benefits of drug repurposing have gained attention as an alternative to developing de novo drugs. The potential of using central nervous system (CNS) drugs as anticancer drugs has been explored in several types of human cancers, such as breast and colon cancer, among others. Here, we examine the effect of the CNS drugs sertraline, paroxetine, and chlorpromazine on human squamous carcinoma cells of the bladder (UM-UC-5).

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Hypertriglyceridemia is an exceptionally complex metabolic disorder characterized by elevated plasma triglycerides associated with an increased risk of acute pancreatitis and cardiovascular diseases such as coronary artery disease. Its phenotype expression is widely heterogeneous and heavily influenced by conditions as obesity, alcohol consumption, or metabolic syndromes. Looking into the genetic underpinnings of hypertriglyceridemia, this review focuses on the genetic variants in , , , and triglyceride-regulating genes reportedly associated with abnormal genetic transcription and the translation of proteins participating in triglyceride-rich lipoprotein metabolism.

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

Background: De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of DNA repair/replication. These spontaneous errors play a significant role in the causation of genetic disorders, and their importance in the context of molecular diagnostic medicine has become steadily more apparent as more DNMs have been reported in the literature.

Vitiligo-like Lesions as a Predictor of Response to Immunotherapy in Non-Small Cell Lung Cancer: Comprehensive Review and Case Series from a University Center.

The reference to vitiligo-like lesions (VLLs) induced by immune checkpoint inhibitors (ICIs) as a valuable predictive marker of treatment success of immunotherapy with ICIs in melanoma has been mentioned in the literature. Its role in non-small cell lung cancer (NSCLC)-treated patients remains a poorly recognized phenomenon with uncertain significance regarding its predictive value. A retrospective, observational, single-center report was performed, with descriptive analysis of clinicopathological and treatment characteristics of patients with stage IV NSCLC who developed ICI-induced VLL between January 2018 and December 2022, contextualized in a comprehensive review of the literature and reported cases regarding this phenomenon.

Emerging imaging markers in radiologically isolated syndrome: implications for earlier treatment initiation.

The presence of central nervous system lesions fulfilling the criteria of dissemination in space and time on MRI leads to the diagnosis of a radiologically isolated syndrome (RIS), which may be an early sign of multiple sclerosis (MS). However, some patients who do not fulfill the necessary criteria for RIS still evolve to MS, and some T2 hyperintensities that resemble demyelinating lesions may originate from mimics. In light of the recent recognition of the efficacy of disease-modifying therapy (DMT) in RIS, it is relevant to consider additional imaging features that are more specific of MS.

Thirty-years of genetic counselling education in Europe: a growing professional area.

Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs.

Renal Artery Stenosis in Living Donor Kidney Transplantation: A Rare Cause of "Flash Edema".

Transplant renal artery stenosis (TRAS) is a well-recognized vascular complication after kidney transplantation, with an incidence ranging from 1% to 23%. TRAS often presents with clinical features such as refractory hypertension, de novo hypertension, allograft dysfunction, and the presence of a bruit over the graft. A rare manifestation of TRAS is flash pulmonary edema.