Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.

Comparative analysis of arterial involvement in predominant cranial and isolated extracranial phenotypes of giant cell arteritis using F-FDG PET-CT.

Objective: To investigate differences in arterial involvement patterns on F-FDG PET-CT between predominant cranial and isolated extracranial phenotypes of giant cell arteritis (GCA).

Methods: A retrospective review of F-FDG PET-CT findings was conducted on 140 patients with confirmed GCA. The patients were divided into two groups: the cranial group, which presented craniofacial ischemic symptoms either at diagnosis or during follow-up, and the isolated extracranial group which never exhibited such manifestations.

Compensating elastic faults in a torque-assisted knee exoskeleton: functional evaluation and user perception study.

Wearable robots are often powered by elastic actuators, which can mimic the intrinsic compliance observed in human joints, contributing to safe and seamless interaction. However, due to their increased complexity, when compared to direct drives, elastic actuators are susceptible to faults, which pose significant challenges, potentially compromising user experience and safety during interaction. In this article, we developed a fault-tolerant control strategy for torque assistance in a knee exoskeleton and investigated user experience during a walking task while emulating faults.

Alexithymia in Parkinson's Disease: A Meta-analysis.

Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor manifestations, including alexithymia. This condition is defined by difficulty in recognizing, articulating, and expressing one's emotional states. In this study, we conducted a systematic review and meta-analysis to compare the prevalence of alexithymia in PD patients and a healthy population, and to identify associated demographic and clinical factors.

Targeting CDK2 to circumvent treatment resistance in HR breast cancer.

Genetic and epigenetic defects of the p53 system have previously been associated with resistance to CDK4/6 inhibitors in women with HR breast cancer. Recent data from Kudo et al. demonstrate that CDK2-targeting agents may offer an effective strategy to circumvent such resistance by enforcing cellular senescence downstream of RBL2 dephosphorylation.

Nurse-led therapeutic patient education program on glycemic control and emotional wellbeing in adolescents with type 1 diabetes mellitus during hospital transition.

Introduction: The transition of adolescents from pediatric to adult hospitals is a planned and guided process that involves changes in the focus, style, and location of care. During this period, complications are common in those with type 1 diabetes mellitus (T1DM). The objective of this study was to understand the influence of a nurse-led structured therapeutic education program on maintaining glycemic control and emotional wellbeing in these adolescents.

Pharmacists as independent prescribers in community pharmacy: A scoping review.

Background: There has been a growing interest in granting prescribing rights to pharmacists as a strategy to improve healthcare access. Researchers continue to explore the impact and implementation of pharmacist prescribing. Given the recent international changes in this field, an overview of current territories allowing pharmacist independent prescribing would provide a comprehensive understanding for researchers and policymakers.

Diagnostic validation of the 00325 Inadequate Self-Compassion.

Background: Self-compassion is an essential component of self-care. Recognizing it as a nursing diagnosis can promote interventions to address Inadequate Self-Compassion.

Aim: This study aims to clinically validate the new NANDA-I diagnosis (00325) Inadequate Self-Compassion.

Strategic interventions and a novel model for the integration of community pharmacy and primary care in Spain: qualitative insights.

Objectives: To explore the opinions and perceptions of key stakeholders on the integration between community pharmacy and primary care, within the Valencian Autonomous Community. Specific objectives include identifying strategic interventions to facilitate this integration. Additionally, the manuscript discusses the formulation of a novel model for the integration of community pharmacy and primary care.

Content validation of the nursing diagnosis "Frail Elderly Syndrome (00257)".

Objective: To increase the level of evidence available for the nursing diagnosis "Frail Elderly Syndrome 000257" through content validation by nurses with expertise in caring for the elderly.

Method: Diagnostic content validation study in accordance with Fehring's proposal composed of two stages: integrative review of the literature according to Whittemore and Knafl's guidelines, which allowed us to update the diagnostic components, and, subsequently, expert consensus study by means of the Delphi method. A total of 61 nurses who met the inclusion criteria were included.

Regular Consumption of Black Tea Kombucha Modulates the Gut Microbiota in Individuals with and Without Obesity.

Background: Kombucha, a fermented beverage obtained from a Symbiotic Culture of Bacteria and Yeast (SCOBY), has shown potential in modulating gut microbiota, although no clinical trials have been done.

Objective: We aimed to evaluate the effects of regular black tea kombucha consumption on intestinal health in individuals with and without obesity.

Methods: A pre-post clinical intervention study was conducted lasting eight weeks.

Ozone Concentration, Physical Activity, and Emotional and Behavioral Problems in Children and Adolescents.

Background: No prior study has examined the mutual association of long-term outdoor ozone (O) concentration and physical activity (PA) with emotional and behavioral problems (EBPs) in children and adolescents. This study aims to investigate the association between long-term outdoor O concentration and the risk of EBPs in children and adolescents and further explore whether increased PA levels modify this association.

Methods: Data were obtained from the 2020 wave follow-up examination of an ongoing prospective cohort study (COHERENCE project) in Guangzhou, China.

Chronic spontaneous urticaria remission definition and therapy stepping-down. WAO Position Paper.

Background: There is no global agreement on the definition of Chronic Spontaneous Urticaria (CSU) remission.

Objective: To generate a consensus for clinical definitions in CSU focused on remission.

Methods: The World Allergy Organization (WAO) Urticaria Committee systematically reviewed current available longitudinal articles.

CAR-T cells are more affected than T lymphocytes by mechanical constraints: A microfluidic-based approach.

Aims: CAR-T cell therapy has attracted considerable attention in recent years owing to its well-known efficacy against haematopoietic malignancies. Nevertheless, this immunotherapy fails against solid tumours due to hostile conditions found in the tumour microenvironment. In this context, many relevant biochemical factors have been thoroughly studied, but crucial mechanical cues have been underestimated.

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.

Study Design: Case series.

Modified Crohn's Disease Exclusion Diet Maintains Remission in Pediatric Crohn's Disease; Randomized Controlled Trial.

Background & Aims: The Crohn's Disease (CD) Exclusion Diet (CDED)+Partial Enteral Nutrition (PEN) is effective for inducing remission in mild-moderate CD. We assessed whether a 2-week course of Exclusive Enteral Nutrition (EEN), followed by CDED+PEN is superior to 8 weeks of EEN in sustaining clinical remission at week 14 in mild-to-severe CD and if CDED+PEN can maintain remission to week 24.

Methods: This international, multicenter, randomized-controlled trial compared 2-weeks of EEN (Modulen®IBD) followed by 3 phases of the CDED+PEN (henceforth CDED) to 8 weeks of EEN, followed by PEN with free diet up to week 24 (henceforth EEN).

Evaluating MicroRNAs as Diagnostic Tools for Lymph Node Metastasis in Breast Cancer: Findings from a Systematic Review and Meta-Analysis.

Lymph node metastasis (LNM) significantly affects the prognosis and clinical management of breast cancer (BC) patients. This systematic review and meta-analysis aim to identify microRNAs (miRNAs) associated with LNM in BC and evaluate their potential diagnostic and prognostic value. Following PRISMA guidelines, a comprehensive literature search was conducted in PubMed, Web of Science, and SCOPUS databases, to assess the role of miRNAs in LNM BC.

Persistence, severity and reactivity thresholds in fish allergic patients sensitized to parvalbumin.

Background: Fish allergy affects children and adults worldwide and there are transient and persistent phenotypes.

Objective: We aimed to analyze persistence, severity and reactivity thresholds in challenge-confirmed fish allergic patients sensitized to parvalbumin.

Methods: Patients 12-65 years-old reporting immediate reactions to fish, with fish skin prick test ≥5 mm and IgE to cod and carp β-parvalbumins ≥0.

Application of a near real-time technique for the assessment of atmospheric arsenic and metals emissions from a copper smelter in an urban area of SW Europe.

Emissions of metals and metalloids as a result of industrial processes, entail a great risk to human health. A high time resolution study on arsenic levels in PM in the city of Huelva (SW Spain) was carried out between September 2021 and September 2022. Hourly data obtained with a near real-time technique based on X-ray fluorescence were inter-compared with other offline analytical instrumentation.

Fungal lectins show differential antiproliferative activity against cancer cell lines.

Glycosylation patterns represent an important signature of cancer cells that can be decoded by glycan-binding proteins, i.e., lectins.

Modelling components of nacre structure in silico: Interactions of a nacre peptide with chitin and an aragonite surface.

The nacre formation process is a fascinating phenomenon involving mineral phase transformations, self-assembly processes, and protein-mineral interactions, resulting in a hierarchical structure that exhibits outstanding mechanical properties. However, this process is only partially known, and many aspects of nacre structure are not well understood, especially at the molecular scale. To understand the interplay between components-aragonite, protein and chitin-of the structure of nacre observed experimentally, we investigate the interactions of a peptide that is part of the protein lustrin A, identified in the nacreous layer of the shell of the abalone Haliotis rufescens, with the (001) crystal surface of aragonite and the chitin molecule.