Adult phenotypes of genetic developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.

Spin-orbit interaction driven terahertz nonlinear dynamics in transition metals.

The interplay of electronic charge, spin, and orbital currents, coherently driven by picosecond long oscillations of light fields in spin-orbit coupled systems, is the foundation of emerging terahertz lightwave spintronics and orbitronics. The essential rules for how terahertz fields interact with these systems in a nonlinear way are still not understood. In this work, we demonstrate a universally applicable electronic nonlinearity originating from spin-orbit interactions in conducting materials, wherein the interplay of light-induced spin and orbital textures manifests.

Nanomaterials-plants-microbes interaction: plant growth promotion and stress mitigation.

Soil salinization, extreme climate conditions, and phytopathogens are abiotic and biotic stressors that remarkably reduce agricultural productivity. Recently, nanomaterials have gained attention as effective agents for agricultural applications to mitigate such stresses. This review aims to critically appraise the available literature on interactions involving nanomaterials, plants, and microorganisms.

Resistance to medically important antimicrobials in broiler and layer farms in Cameroon and its relation with biosecurity and antimicrobial use.

Introduction: Poultry production accounts for 42% of Cameroonian meat production. However, infectious diseases represent the main hindrance in this sector, resulting in overuse and misuse of antimicrobials that can contribute to the emergence and dissemination of antimicrobial resistance (AMR). This study aimed to evaluate the prevalence of antimicrobial resistance genes (ARGs) conferring resistance to carbapenems ( and ), (fluoro) quinolones (, , and ), polymyxins ( to ), and macrolides ( and ) in the poultry farm environment.

The potential role of interleukin-6 in the association between inflammation and cognitive performance in obstructive sleep apnea.

Background: Interleukin-6 (IL-6) represents one of the main molecules involved in inflammatory responses, which can be altered in either patients with cognitive impairment or obstructive sleep apnea (OSA). The present study aimed to evaluate serum IL-6 levels and cognitive performance in patients with severe OSA (Apnea-Hypopnea Index - AHI >30/h).

Methods: Thirty patients with severe OSA were compared to 15 controls similar in age, sex, and Body Mass Index.

A rare case of malignant melanoma presenting as anterior-superior mediastinal mass.

Mediastinum, as site for malignant melanoma, is extremely rare, both as a primary or metastatic lesion. We present an extremely rare case of primary melanoma presenting as an anterior-superior mediastinal mass in a 65 years-old woman who went to the hospital for neurological symptoms due to unknown metastatic brain melanomas.

Are explorers greener? Investigating the role of personality traits, connectedness to nature and attitudes toward exploring in various pro-environmental behaviors.

Previous research has suggested that individual characteristics, such as personality traits, are crucial for pro-environmental behaviors. However, the joint role of more specific environment-related individual dispositions on various pro-environmental behaviors has not yet been investigated and is the aim of this study. A total of 649 adults (18-59 years old) assessed their pro-environmental behaviors, personality traits, the connectedness to nature, attitudes toward exploration, and spatial anxiety.

Methadone metabolite (EDDP) crystals in urine: a case report.

Crystals in urinary sediment are commonly recognized structures, typically identified by a combination of crystal morphology and urine pH. In this paper, we present the first reported case of EDDP (2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidene) crystals, the primary metabolite of methadone, in a 67-year-old male with hepatorenal syndrome. Routine urinalysis revealed numerous needle-shaped crystals, which prompted further investigation.

Clinical utility of myocardial work assessment in arterial hypertension and cardiovascular diseases.

In clinical practice, ventricular ejection fraction (EF) and global longitudinal strain (GLS) are the most often used parameters for evaluating left ventricular systolic function, despite the impact that variable loading conditions have. Alternatively, the myocardial efficiency (ME) of the heart, encompassing cardiac energy formation and dissipation, along with myocardial oxygen consumption (MVO2), is a useful surrogate for assessing myocardial work (MW), a parameter correlated with the pressure-strain loop (PSL), arterial pressure, and cardiac output (CO). This refinement proves especially practical in defining cardiac work across various clinical contexts, including arterial hypertension and heart failure (HF), the primary conditions associated with cardiovascular mortality.

Effects of a home-based pelvic floor muscle training with and without action and cue observation on urinary incontinence after prostatectomy: A randomized controlled trial.

Objective: To investigate the effects of a home-based pelvic floor muscle training with and without action and cue observation on urinary incontinence after prostatectomy.

Design: Two-armed single-blind randomized controlled trial.

Setting: Humanitas Research Hospital, Milan, Italy.

Report of the 19th International Congress on Twin Studies, 26-28 September 2024, Assisi, Italy.

The International Society for Twin Studies (ISTS) held its 19th scientific congress in Assisi, Italy, from September 26 to 28, 2024. This prestigious event, which was the seventh joint meeting with the World Congress on Twin Pregnancy, brought together researchers from various fields, including psychology, biology and medicine. Representatives from ICOMBO (the International Consortium of Multiple Birth Organisations), which supports multiple-birth families worldwide, were also in attendance.

Technical aspects of neuraxial analgesia during labor and maternity care: an updated overview.

Labor analgesia is increasingly widespread throughout the world with a rate ranging from 10 to 60%. The benefits regarding clinical and non-clinical maternal-fetal outcomes are currently discussed in international scientific literature. Even stage of labor needs a different and appropriate approach to control the pain; however, different techniques are reported in literature.

Understanding retinal tau pathology through functional 2D and 3D iPSC-derived in vitro retinal models.

The generation of retinal models from human induced pluripotent stem cells holds significant potential for advancing our understanding of retinal development, neurodegeneration, and the in vitro modeling of neurodegenerative disorders. The retina, as an accessible part of the central nervous system, offers a unique window into these processes, making it invaluable for both study and early diagnosis. This study investigates the impact of the Frontotemporal Dementia-linked IVS 10 + 16 MAPT mutation on retinal development and function using 2D and 3D retinal models derived from human induced pluripotent stem cells.

Association between early dietary patterns and cardiometabolic health at age 8: a confirmatory analysis of the European Childhood Obesity Project.

Background & Aim: Metabolic and cardiovascular health outcomes are strongly influenced by diet. Dietary habits established in early childhood may persist into adulthood. This study aimed to examine the association between dietary patterns at both 2 and 8 years of age, explaining the maximum variability of high- and low-quality fats, sugars, and fibre, and cardiometabolic markers at age 8 years.

Oral health in patients with cleft lip and palate: a systematic literature review and meta-analysis of periodontal and dental disease and oral microbiota (part 1).

Introduction: Orofacial cleft impacts jawbone and dental development and function, often with consequences for oral health. The first in this two-part systematic review of the literature on oral health in persons with cleft lip and/or palate focuses on periodontal parameters and composition of oral bacterial flora, while the second analyzes data on dental caries.

Materials And Methods: Four databases (PubMed, Cochrane, Scopus, Web of Science) were searched for studies that compared periodontal parameters, caries index, and microbiota composition between persons with cleft lip and/or palate and healthy controls.

How does BMI correlate with menarche onset? Evidence from the Italian HBSC cross-sectional study.

Menarche is an important period in a female's life; its time of onset may depend on various factors and could correlate with the development of diseases in adulthood. Our study aims to investigate the relationship between body mass index and age at onset of menarche; METHODS: We used a unique standardized national dataset on adolescent girls participating in the Italian Health Behaviour in School-aged Children Study. Two independent nationally representative survey datasets: one on 15-year-olds (n = 6505, year 2017/2018) and one on 11-year-olds (n = 6548, year 2013/2014) were analysed.

Remimazolam for procedural sedation in gastrointestinal endoscopy: real-life, single center observational study.

Background And Aim: Remimazolam has proved to be a very promising sedative drug in randomized clinical trials for usage in a wide spectrum of patients, including critically ill ones. The purpose of our study was to verify efficacy and safety of remimazolam for procedural sedation during diagnostic and first level operative endoscopy in a real-world setting.

Methods: This single centre prospective study evaluated sedation regimen with remimazolam for EGDS and fentanyl and remimazolam for colonoscopy in consecutive ASA 1-3 patients.

Refined methodologies for probabilistic dietary exposure assessment for food contaminants based on the observed individual means methodology.

Background: The Observed Individual Means (OIM) methodology, based on the non-parametric bootstrap, is usually employed to perform basic probabilistic dietary chronic exposure assessment, and assumes independence and identical distribution of occurrence data within food category. However, this assumption may not be valid if several expected distributions of occurrence can be a priori identified within food category. Moreover, OIM assumes each analysed food sample to equally contribute to mean occurrence, as information about relevance of each food item cannot be incorporated into exposure assessment.

From pro-re-nata to fixed-interval regimen: evolving real-world treatment paradigms in anti-VEGF therapy for neovascular AMD.

Objective: To evaluate the impact of evolving treatment paradigms for neovascular age-related macular degeneration (nAMD) by comparing outcomes between two patient cohorts treated with different anti-vascular endothelial growth factor (anti-VEGF) regimens over a decade apart.

Methods: This retrospective cohort study included 200 treatment-naive nAMD patients divided into two cohorts. Cohort 1 (2009-2010) was treated with a pro re nata (PRN) regimen, involving three initial monthly injections followed by as-needed treatments based on monthly monitoring.

Resistance-breaking strains of tomato spotted wilt virus hamper photosynthesis and protein synthesis pathways in a virus accumulation-dependent manner in Sw5-carrying tomatoes.

Tomato spotted wilt virus (TSWV; Orthotospovirus tomatomaculae) is one of the major horticultural threats due to its worldwide distribution and broad host range. In Italy, TSWV is widely spread in tomato (Solanum lycopersicum) crops and causes severe yield losses. In the last decades, several tomato varieties carrying the Sw-5b gene for resistance to TSWV have been released.

Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment.

DOPA Decarboxylase (DDC) has been proposed as a cerebrospinal fluid (CSF) biomarker with increased concentrations in Lewy body disorders (LBDs) and highest levels in patients receiving dopaminergic treatment. Here we evaluate plasma DDC, measured by proximity extension assay, and the effect of dopaminergic treatment in three independent LBD (with a focus on dementia with Lewy bodies (DLB) and Parkinson's disease (PD)) cohorts: an autopsy-confirmed cohort (n = 71), a large multicenter, cross-dementia cohort (n = 1498) and a longitudinal cohort with detailed treatment information (n = 66, median follow-up time[IQR] = 4[4, 4] years). Plasma DDC was not altered between different LBDs and other disease groups or controls in absence of treatment.

A SNARC-like effect for visual speed.

Numerical and nonnumerical magnitudes can be represented along a hypothetical left-to-right continuum, where smaller quantities are associated with the left side and larger quantities with the right side. However, these representations are flexible, as their intensity and direction can be modulated by various contextual cues and task demands. In four experiments, we investigated the spatial representation of visual speed.