New genetic drivers in hemorrhagic hereditary telangiectasia.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in around 90% of the patients; also 2% of patients harbor pathogenic variants at SMAD4 and GDF2. Importantly, the genetic cause of 8% of patients with clinical HHT remains unknown.

Potential angiogenic biomarkers in hereditary hemorrhagic telangiectasia and other vascular diseases.

Biomarkers are new tools framed in precision and personalized medicine. Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic vascular disease with disturbances in the angiogenic pathways. Descriptive evidence supports that some angiogenesis-related molecules are differently detected in HHT patients compared to healthy subjects.

Efficacy and safety of high-flow nasal cannula therapy in elderly patients with acute respiratory failure.

Introduction: To assess the efficacy and safety of high-flow nasal cannula (HFNC) in elderly patients with acute respiratory failure (ARF) not due to COVID-19, refractory to treatment with conventional oxygen therapy and/or intolerant to noninvasive ventilation (NIV) or continuous positive airway pressure (CPAP) and without criteria for admission to intensive care units (ICU).

Methods: Prospective observational study of patients with ARF treated with HFNC who presented clinical and arterial blood gas deterioration after 24 h of medical treatment and oxygenation by conventional systems. The degree of dyspnoea, gas exchange parameters (arterial O pressure/inspired O fraction ratio (PaO/FiO); oxygen saturation measured by oximetry/ inspired fraction of oxygen (Sp0/Fi0), ROX index), degree of patient tolerance and mortality were evaluated.

Diagnostic Performance of a Fecal Immunochemical Test-Based Colorectal Cancer Screening Program According to Ambient Temperature and Humidity.

Exposure of the fecal immunochemical test (FIT) to different ambient temperatures and humidity is unavoidable in population-based screening programs in Southern European countries, and it could lead to a decrease in target colorectal lesions. The objective was to evaluate the effect of ambient temperature and humidity on the FIT sensitivity in a population-based screening program for colorectal cancer (CRC) using an ecological design. The retrospective cohort included individuals aged 50−69 years who participated in CRC screening (Barcelona) from 2010−2015, and were followed until 2017 to identify interval CRCs.

Positive impact of a faecal-based screening programme on colorectal cancer mortality risk.

Introduction: The effectiveness of colorectal cancer (CRC) screening programs is directly related to participation and the number of interval CRCs. The objective was to analyse specific-mortality in a cohort of individuals invited to a CRC screening program according to type of CRC diagnosis (screen-detected cancers, interval cancers, and cancers among the non-uptake group).

Material And Methods: Retrospective cohort that included invitees aged 50-69 years of a CRC screening program (target population of 85,000 people) in Catalonia (Spain) from 2000-2015 with mortality follow-up until 2020.