Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

Nontuberculous Mycobacterial Infections: A Retrospective Analysis From a Tertiary Hospital in Portugal.

Introduction The prevalence of nontuberculous mycobacteria (NTM) is higher in patients with structural lung disease and in immunocompromised patients. Lung involvement is the most common. The complex corresponds to the most identified agent.

Evaluation of the interface of metallic-coated biodegradable polymeric stents with prokaryotic and eukaryotic cells.

Polymeric coronary stents, like the ABSORB™, are commonly used to treat atherosclerosis due to their bioresorbable and cell-compatible polymer structure. However, they face challenges such as high strut thickness, high elastic recoil, and lack of radiopacity. This study aims to address these limitations by modifying degradable stents produced by additive manufacturing with poly(lactic acid) (PLA) and poly(ε-caprolactone) (PCL) with degradable metallic coatings, specifically zinc (Zn) and magnesium (Mg), deposited via radiofrequency (rf) magnetron sputtering.

Regulations of activities and protection levels in marine protected areas of the European Union: A dataset compiled from multiple data sources.

The dataset gathers available regulations of human activities and protection levels of Marine Protected Areas (MPAs) of the European Union (EU). The MPA list and polygons were extracted from the MPA database of the European Environment Agency (EEA) and completed with available zoning systems (all were filtered for their marine area reported under the Marine Strategy Framework Directive). Fully-overlapping MPAs were merged.

The impact of atrial voltage and conduction velocity phenotypes on atrial fibrillation recurrence.

Introduction: Low atrial voltage and slow conduction velocity (CV) have been associated with atrial fibrillation (AF); however, their interaction and relative importance as early disease markers remain incompletely understood. We aimed to elucidate the relationship between atrial voltage and CV using high-density electroanatomic (HDE) maps of patients with AF.

Methods: HDE maps obtained during sinus rhythm in 52 patients with AF and five healthy controls were analysed.

Trends in initial pharmacological COPD treatment in primary care (2010-2021): a population-based study using the PHARMO Data Network.

Background: Pharmacological treatment is a cornerstone of chronic obstructive pulmonary disease (COPD) management, with general practitioners providing the most care. However, the lack of data on prescribing trends in initial pharmacotherapy in primary care hinders the understanding of how scientific and technical developments impact patient care and may also perpetuate suboptimal practices. Hence, this study aims to analyze trends in the initial pharmacological treatment of newly diagnosed COPD patients in Dutch primary care from 2010 to 2021.

Clinical usefulness of patient-reported-outcome-measurement information system in Pediatric Crohn's Disease: a cross-sectional study.

Objectives: This study evaluated the clinical utility of the Patient-Reported Outcomes Measurement Information System (PROMIS) by comparing it with objective clinical data and validated health-related quality of life (HRQOL) measures in pediatric Crohn's disease (CD) patients.

Study Design: Cross-sectional study. Pediatric CD patients (aged 8-17 years) were enrolled prospectively over eight months from an outpatient pediatric gastroenterology center.

"Mechanical Thrombectomy beyond 6 hours for acute ischemic strokes due to M2 occlusions".

Background: The time frame for mechanical thrombectomy (MT) in acute ischemic stroke (AIS) is enlarging. Guidelines recommend MT until 6 hours of symptom onset in M2 segment occlusions (grade IIB). In practice, it is frequently performed later.

Classification of 3-node restricted excitatory-inhibitory networks.

We classify connected 3-node restricted excitatory-inhibitory networks, extending our previous paper (Aguiar et al., 2024). We assume that there are two node-types and two arrow-types, excitatory and inhibitory; all excitatory arrows are identical and all inhibitory arrows are identical; and excitatory (resp.

Antiviral Properties of Essential Oil Mixture: Modulation of E7 and E2 Protein Pathways in Human Papillomavirus (HPV) Infection.

Ethnopharmacological Relevance: Clove is used in Indian and Chinese traditional medicine for viral diseases. Palmarosa essential oils have been traditionally used in India and Southeast Asia since ancient times and have made considerable use of them. In New Caledonia, niaouli oil is used in aromatherapy and pharmaceutical formulations to treat pain and viral diseases.

A reliability generalization meta-analysis of the internal consistency and test-retest reliability of the pre-sleep arousal scale (PSAS).

Purpose: The Pre-Sleep Arousal Scale (PSAS) is a self-report tool for assessing cognitive and somatic arousal before sleep. While the English version is well-validated, research on translations is limited. This meta-analysis examines PSAS translations' internal consistency and reliability.

Implementation of the ProMisE classifier and validation of its prognostic impact in Brazilian endometrial carcinomas.

Purpose: Molecular classification of endometrial cancer (EC) has emerged as a key approach to individualize therapy and define prognostic outcomes. This study aimed to implement the traditional ProMisE classification in a Brazilian population, compared with a molecular setting of ProMisE biomarkers, and evaluate its impact on patients' prognosis.

Patient And Methods: A prospective cohort of 114 patients with primary EC treated at Barretos Cancer Hospital (BCH) between October 2020 and December 2022 was conducted.

Prostaglandin pathways in equine myometrium regulations: endometrosis progression.

Introduction: Prostaglandins (PG) are important regulators of the myometrial contractility in mammals. Endometrosis, a condition characterized by morphological changes in the equine endometrium, also affects endometrial secretory function. However, it remains unclear whether and how endometrosis affects myometrial function.

Characterization of risk factors for early ambulation in paraplegic dogs with absent pain perception undergoing decompressive surgery for thoracolumbar intervertebral disk extrusions.

Background: Current literature warrants surgical decompression in paraplegic dogs with absent pain perception (APP), but the rate of ambulatory dogs with APP following thoracolumbar (TL) IVDE surgery in a clinical setting remains unknown. Furthermore, the outcome of paraplegic APP French Bulldogs (FBs) is anecdotally considered poor. The aims of this study were threefold within a large population of TL-IVDE paraplegic dogs with APP undergoing decompressive surgery: (1) to characterize early spontaneous pelvic limb movement and ambulation following surgery; (2) to identify risk factors for the recovery of ambulation; and (3) to compare the outcome of FBs and Dachshunds presenting with APP.

SeqLengthPlot v2.0: an all-in-one, easy-to-use tool for visualizing and retrieving sequence lengths from FASTA files.

Motivation: Accurate sequence length profiling is essential in bioinformatics, particularly in genomics and proteomics. Existing tools like SeqKit and the Trinity toolkit provide basic sequence statistics but often fall short in offering comprehensive analytics and plotting options. For instance, SeqKit is a very complete and fast tool for sequence analysis, delivering useful metrics (e.

Description of two new species ( sp. nov and sp. nov.) (Tanaidacea: Crustacea) from the Mediterranean and a biogeographic overview of the genus.

The Mediterranean Sea is recognized as one of the most threatened marine environments due to pollution, the unintentional spread of invasive species, and habitat destruction. Understanding the biodiversity patterns within this sea is crucial for effective resource management and conservation planning. During a research cruise aimed at assessing biodiversity near desalination plants in the vicinity of Larnaca, Cyprus, conducted as part of the WATER-MINING project (Horizon 2020), specimens of the tanaidacean genus were collected.

Persistent Knee Monoarthritis as a Lyme Disease Presentation: A Diagnostic Challenge - Case Report.

There are several differential diagnoses for knee monoarthritis. We report a patient with recurrent episodes of knee effusion, in which the non-specific clinical condition implied several diagnostic hypotheses, therapeutic inaccuracies, and a delay in implementing adequate treatment. For more than 2 years, the patient underwent different Orthopedics and Rheumatology visits.

Proximal Humerus Epiphysiolysis as a Rare Cause of Fracture in Childbirth - A Case Report.

Proximal humeral epiphysiolysis (PHE) are rare at 10.1/100,000 births and there are few cases described in the literature. We present the case of a newborn diagnosed with PHE submitted to conservative treatment.

Cavitary Pulmonary Tuberculosis in an Infant.

Tuberculosis (TB) continues to pose a significant health challenge globally and in Portugal. Diagnostic challenges persist, especially in infants, where TB often presents with atypical symptoms. A previously healthy three-month-old male infant from Vila Nova de Famalicão, Portugal, was admitted with cough, rhinorrhea, respiratory distress, and high-grade fever.

Anything goes for participant, patient and public involvement in youth mental health research.

Background: Participant and Public Involvement in youth mental health research aims at making research more responsive to the needs of youth struggling with mental health issues, their parents, and mental health professionals and other stakeholders. Do characteristics of Patient and Public Involvement (PPI) in youth mental health research align with transparency and replication prerequisites as necessary conditions for translation? Relatedly, the question is addressed whether co-authorship should be assigned to youth involved in the study.

Methods: Here we address these questions re-visiting 50 PPI studies included in two recent systematic reviews of PPI on characteristics that are pertinent to questions about transparency, replicability, translatability, and co-authorship in PPI research.

Effects of experimental nest treatment with herbs on ectoparasites and body condition of nestlings.

Nest fumigation behavior involves the incorporation of fresh green plant fragments that contain ectoparasite-repellent volatile compounds into birds' nests. This behavior is relatively rare among bird species, and there is ongoing debate about whether it benefits parental breeding success. In this study, we experimentally tested whether the inclusion of aromatic-herbal plant fragments in the nests of great tits affects the physiological condition of nestlings, as indicated by blood levels of hematocrit, hemoglobin, glucose, and body condition indices, such as weight and wing length.