Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

The Portuguese Society of Ophthalmology and the Portuguese Society of Human Genetics developed clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underlining the critical role of molecular diagnosis in enhancing patient care. Genetic testing is pivotal in diagnosis, genetic counselling, prognosis and access to clinical trials, and new gene-specific therapies. These guidelines recommend genetic testing in all IRD patients and provide a detailed assessment of available testing methods, ensuring that genetic counselling is integrated into ophthalmic care.

Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years.

Objectives: Subclinical hypothyroidism (SCH) is defined by elevated thyroid-stimulating hormone (TSH) levels (>5 mUI/L) and normal total and free thyroxine levels (fT4). There is ongoing debate over whether mild SCH should be treated. This study aims to assess the clinical course of normoponderal pediatric patients with SCH.

Cardiovascular risk profile with SCORE2 and SCORE2-OP: comparing Portugal, Spain, Italy, and France using the new European predictive models.

Introduction: This study aims to characterize the cardiovascular risk profile in countries with low-to-moderate cardiovascular mortality risk (Italy, Portugal, France, and Spain) using the SCORE2 and SCORE2-OP models. It also examines regional variations and the involvement of healthcare professionals in performing risk assessments.

Methods: A retrospective observational study was conducted using data from 24,434 cardiovascular risk assessments performed between December 2022 and July 2023 through a digital application used by physicians.

Gerbils without Borders: Invasiveness, Plague, and Micro-Global Histories of Science, 1932-1939.

In the 1930s, a series of bubonic plague outbreaks among humans cropped up in several villages at the border of Angola and Namibia. These outbreaks provoked deep concern, laying bare social and political tensions amongst neighboring imperial powers and Indigenous people within the region. Despite the appearance of this disease in what was then considered a recondite place, its spread sparked debate in transnational forums, such as the League of Nations and the Office International d'Hygiène Publique.

Conditioned Pain Modulation (CPM) Paradigms: Reliability and Relationship With Individual Characteristics.

Purpose: Conditioned Pain Modulation (CPM) is a useful tool for testing the functionality of endogenous pain modulation. However, inconsistent results have been obtained in clinical populations, possibly due to the wide variety of CPM protocols used and the influence of demographic and psychological characteristics of the individuals assessed.

Methods: We tested the sensitivity and reliability of four commonly used CPM paradigms in a sample of 58 healthy participants.

Effects of black soldier fly larvae oil on lipid metabolism, liver fatty acid composition, and plasma metabolite profiles in gilthead seabream juveniles.

The potential of insects as alternative ingredients in animal feeds is well-established. However, limited information is available on the use of insect oils as alternative lipid sources in aquafeeds. To address this, a study was conducted on gilthead seabream (Sparus aurata) juveniles to evaluate the effects of including black soldier fly (Hermetia illucens) larvae oil (HIO).

Antiproliferative and antioxidant properties of protein-free and protein-bound phenolics isolated from purple Rice (Oryza sativa L.).

Purple rice (Oryza sativa L.) is a rich in endogenous phenolics and proteins. The naturally occurring interactions between phenolic compounds and proteins have been shown to have beneficial effects on human health.

Comparison of end-to-side and side-to-side anastomosis techniques in arteriovenous fistula for hemodialysis. A systematic review and meta-analysis.

Autogenous arteriovenous fistula (AVF) is the vascular access of choice for chronic kidney disease to patients requiring hemodialysis. However, there still needs to be more consensus on whether the best surgical approach is an end-of-vein to side-of-artery (ETS) or a side-of-vein to side-of-artery (STS) anastomosis. This study aims to compare venous maturation rates, mid-term patency and post-operative steal syndrome rates between ETS and STS techniques for arteriovenous fistulas.

True- and pseudo-mitral annular disjunction in patients undergoing cardiovascular magnetic resonance.

Background: Mitral annular disjunction (MAD) is a controversial entity. Recently, a distinction between pseudo-MAD, present in systole and secondary to juxtaposition of the billowing posterior leaflet on the left atrial wall, and true-MAD, where the insertion of the posterior leaflet is displaced on the atrial wall both in diastole or in systole, has been proposed. We investigated the prevalence of pseudo-MAD and true-MAD.

Per- and polyfluoroalkylated substances (PFAS) in the feathers and excreta of Gentoo penguins (Pygoscelis papua) from the Antarctic Peninsula.

Per- and polyfluoroalkyl substances (PFAS) exhibit widespread global distribution, extending to remote regions including Antarctica. Despite potential adverse effects on seabirds, PFAS exposure among Antarctic penguins remains poorly studied. We investigated the occurrence of 29 PFAS compounds in feathers and excreta of Gentoo penguins (Pygoscelis papua) from Fildes Bay, Antarctica.

Intramammary Tumor Location and Ipsilateral Lymphatic Spread in Early Breast Cancer Patients Using One-Step Nucleic Acid Amplification (OSNA) Assay.

Establishing an accurate prognosis for women diagnosed with breast cancer (BC) is extremely challenging. Axillary lymph node (ALN) evaluation is considered of major prognostic value. The one-step nucleic acid amplification (OSNA) assay is currently used for assessing axillary sentinel lymph node (SLN) status in BC.

Digital Self-Management Intervention Paths for Early Breast Cancer Patients: Results of a Pilot Study.

Background: Despite excellent prognosis of early breast cancer, the patients face problems related to decreased quality of life and mental health. There is a need for easily available interventions targeting modifiable factors related to these problems. The aim of this study was to test the use of a new digital supportive intervention platform for early breast cancer patients.

Improving Thoracic Trauma Care: Locoregional Analgesia in the Intensive Care Unit.

Introduction:  Pain management in thoracic trauma patients has, historically, relied heavily on systemic analgesic approaches, mostly opioids, associated with numerous adverse effects. Locoregional anesthesia/analgesia (LRAA), presents a promising alternative by specifically targeting pain pathways at the injury site.

Methods:  This study investigates the impact of LRAA on pain management and clinical outcomes in thoracic trauma patients within an ICU setting.

Self-other differences in the perceived authenticity of attitudes expressed toward social groups.

We assessed the perceived authenticity of attitudes expressed toward several social groups as a function of whether those attitudes were expressed by the self or by other people, and whether those expressions were automatic (without time to ponder) or controlled (without time constraints). Participants considered their controlled responses more authentic than their automatic responses. However, the same did not happen when considering others' attitudes.

"": physicians' perceptions on climate change information and adaptation strategies - qualitative study in Portugal.

Background: Climate change presents several challenges to public health and its professionals. This article aims to fill a significant gap in the current literature by understanding physicians' perceptions of their role in educating others about health adaptation to climate change. It also explores their knowledge of health policies related to this issue in Portugal and their perceived influence on the development of adaptation policies at both local and national levels within the health sector.

Interfacial Engineering with One-Dimensional Lepidocrocite TiO-Based Nanofilaments for High-Performance Perovskite Solar Cells.

The optimization of nonradiative recombination losses through interface engineering is key to the development of efficient, stable, and hysteresis-free perovskite solar cells (PSCs). In this study, for the first time in solar cell technology, we present a novel approach to interface modification by employing one-dimensional lepidocrocite (henceforth referred to as 1DL) TiO-based nanofilaments, NFs, between the mesoporous TiO (mp TiO) and halide perovskite film in PSCs to improve both the efficiency and stability of the devices. The 1DLs can be easily produced on the kilogram scale starting with cheap and earth-abundant precursor powders, such as TiC, TiN, TiB, etc.

Label-Free Proteomics of Severe Acute Hepatitis of Unknown Origin in Children by High-Resolution Mass Spectrometry.

Acute hepatitis of unknown etiology (non-HepA-E hepatitis) emerged affecting children in 2021 and in parallel with the COVID-19 pandemic. In the present article, we performed an analysis between two plasma samples from pediatric patients, one with non-HepA-E hepatitis and the other healthy, to evaluate possible proteomic alterations associated with viral targets as possible causative agents and pathophysiological processes using the high-resolution and label-free LC-MS/MS technique. We identified 72 altered differentially expressed proteins, 45 upregulated and 27 downregulated.

Adoption of Digital Therapeutics in Europe.

Digital therapeutics (DTx) are an emerging medical therapy comprising evidence-based interventions that are regulatory approved for patient use, or are under development, for a variety of medical conditions, including hypertension, cancer, substance use disorders and mental disorders. DTx have significant potential to reduce the overall burden on healthcare systems and offer potential economic benefits. There is currently no specific legal regulation on DTx in the EU.

The nasal mycobiome of individuals with allergic rhinitis and asthma differs from that of healthy controls in composition, structure and function.

Allergic rhinitis (AR) and asthma (AS) are two of the most common chronic respiratory diseases and a major public health concern. Multiple studies have demonstrated the role of the nasal bacteriome in AR and AS, but little is known about the airway mycobiome and its potential association to airway inflammatory diseases. Here we used the internal transcriber spacers (ITS) 1 and 2 and high-throughput sequencing to characterize the nasal mycobiome of 339 individuals with AR, AR with asthma (ARAS), AS and healthy controls (CT).