REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.

The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.

Differences and analogies in thyroid cancer discovered incidentally or by thyroid related screening: A multicenter study.

Objective: The prevalence of Thyroid-Cancer (TC) has increased worldwide and an association with metabolic and cardio-vascular disorders has been reported. Moreover, an increasing percentage of patients are currently diagnosed incidentally through non-thyroid related imaging for other clinical conditions. Our aim was to assess the prevalence of Thyroid-Related (TD) versus Incidental (ID) pre-surgery reasons leading to TC diagnosis and to compare the two groups in terms of clinical characteristics, size and severity of TC at presentation and rate of non-thyroid cancers and cardiovascular/metabolic comorbidities.

Life satisfaction around the world: Measurement invariance of the Satisfaction With Life Scale (SWLS) across 65 nations, 40 languages, gender identities, and age groups.

The Satisfaction With Life Scale (SWLS) is a widely used self-report measure of subjective well-being, but studies of its measurement invariance across a large number of nations remain limited. Here, we utilised the Body Image in Nature (BINS) dataset-with data collected between 2020 and 2022 -to assess measurement invariance of the SWLS across 65 nations, 40 languages, gender identities, and age groups (N = 56,968). All participants completed the SWLS under largely uniform conditions.

An innovative microwave technology for the treatment of submental skin laxity.

Backgrounds And Aims: Submental skin laxity (SSL), manifesting as sagging skin and double chin, can significantly affect patients' self-perception and social interactions. While surgical treatments exist, non-invasive methods are increasingly sought for their minimal recovery time. This study assesses the safety and effectiveness of a novel microwave-based device for treating SSL, aiming to provide long-term improvements in skin tightness and appearance.

Murine Models and Human Cell Line Models to Study Altered Dynamics of Ovarian Follicles in Polycystic Ovary Syndrome.

Polycystic ovary syndrome is one of the most common endocrine disorders in women of reproductive age, characterized by functional and structural alterations of the female reproductive organs. Due to the unknown underlying molecular mechanisms, in vivo murine models and in vitro human cellular models are developed to study the syndrome. These models are used to analyze various aspects of the pathology by replicating the conditions of the syndrome.

Introduction to the Operation Room Management technology: Interrupted Time Series analysis in an urban acute care hospital facility in Rome, Italy.

Background: The surgical pathway represents a fundamental process in hospital productivity, and its digitalization is a major focus for hospital management. ASL Roma 1 health authority has taken up this digitalization challenge by introducing an Operation Room Management (ORM) system within the operating block of one of its hospital facilities in 2022.

Study Design: Interrupted Time Series analysis.

Hemorrhoidal disease: what role can rectal artery embolization play?

Introduction: Hemorrhoidal artery embolization, also known as Emborrhoid, has emerged in recent years as a minimally invasive treatment option for patients with recurrent and unresponsive to medical therapies hemorrhoidal bleeding symptoms. We present here an overview of the profile of rectal artery embolization based on the most relevant and recent literature.

Methods: A comprehensive review of literature on Hemorrhoidal artery embolization, was conducted on PubMed-Medline.

Case report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.

Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.

Cost-Benefit Analysis of in vivo Reflectance Confocal Microscopy for Melanoma Diagnosis in a Real-World Clinical Setting.

Background: In a recent prospective, multicenter, two-arm randomized controlled trial (RCT), we demonstrated that adjunctive reflectance confocal microscopy (RCM) in routine clinical practice provides clinical benefits, including safe melanoma detection and a 43.3% reduction in the number needed to excise (NNE).

Methods: A cost-benefit analysis was conducted based on NNEs for standard care (5.

Parents' reflective functioning and stress: The associations with preschoolers' social understanding.

Social understanding competence develops in sensitive and co-regulating caregiver interactions. Parental reflective functioning (PRF) and parenting stress can affect children's social understanding. This study investigated if children's social understanding was associated with PRF and parenting stress.

Patterns of pharmacological treatment in patients with atrial fibrillation: an analysis from the prospective GLORIA-AF Registry Phase III.

Background: Polypharmacy (i.e., treatment with ≥ 5 drugs) is common in patients with atrial fibrillation (AF) and has been associated with suboptimal management and worse outcomes.

The epidemiology and unmet need of migraine in five european countries: results from the national health and wellness survey.

Background: Despite the high global prevalence, burden, and direct and indicated costs, migraines are often under-diagnosed and undertreated. Understanding the prevalence of migraine and unmet needs is crucial for improving diagnosis and treatment across Europe (EU) countries; however, real-world studies are limited.

Methods: This retrospective cross-sectional survey utilized weighted patient-reported data from the 2020 National Health and Wellness Survey (NHWS) in five EU (5EU) countries (France, Germany, United Kingdom [UK], Italy, and Spain).

Therapeutic potential of cannabidiol polypharmacology in neuropsychiatric disorders.

Cannabidiol (CBD), the primary non-intoxicating compound in cannabis, is currently approved for treating rare, treatment-resistant seizures. Recent preclinical research suggests that CBD's multifaceted mechanisms of action in the brain, which involve multiple molecular targets, underlie its neuroprotective, anti-inflammatory, anxiolytic, and antipsychotic effects. Clinical trials are also exploring CBD's therapeutic potential beyond its current uses.

Differentiating aspects of oral and long-acting injectable antipsychotic drugs for tailoring the therapy of schizophrenia in clinical practice: a narrative review.

Schizophrenia is a serious psychiatric condition requiring continuous treatment with antipsychotic medications available in different formulations, including oral antipsychotics (OAPs) and long-acting injectables (LAIs). This narrative review aims to comprehensively outline the advantages and disadvantages of OAPs and LAIs to support clinicians in choosing different formulations based on the presentation of clinical symptoms. An electronic search of the PubMed database was performed in June 2024, and additional articles were retrieved from the references or personal knowledge of the authors.

An immunosenescent CD8+ T cell subset in patients with axial Spondyloarthritis and Psoriatic Arthritis links spontaneous motility to telomere shortening and dysfunction.

Objective: A pathogenetic role of CD8+ T lymphocytes in radiographic axial spondyloarthritis (r-axSpA) and other spondyloarthritis (SpA) is sustained by genome-wide association studies (GWAS) and by the expansion of public T cell clonotypes in the target tissues. This study investigates the migration of CD8+ T cells, along with their phenotype and functions in patients with r-axSpA and psoriatic arthritis (PsA).

Methods: Peripheral blood CD8+ and CD4+ T cells were isolated from r-axSpA (n= 128), PsA (n= 60) and rheumatoid arthritis (RA, n= 74) patients and healthy donors (HD, n= 79).

The carbon footprint and energy consumption of liver transplantation.

Background And Aims: There is growing interest in the environmental impact of surgical procedures, yet more information is needed specifically regarding liver transplantation. This study aims to quantify the total greenhouse gas emissions, or carbon footprint, associated with adult whole-size liver transplantation from donors after brain death, including the relevant back-table graft preparation.

Methods: The carbon footprint was calculated retrospectively using a bottom-up approach.

Interleukin-32 positive immune and resident cells in kidney samples from lupus patients: a pilot study.

Introduction: Lupus nephritis (LN), caused by immune complexes produced or deposited from the bloodstream, is one of the most severe features of Systemic Lupus Erythematosus (SLE) leading to an increased morbidity and mortality. Toll like receptors (TLRs), such as TLR3, TLR7 and TLR9, may play a key role in its pathogenesis. Interleukin-32 (IL-32), a cytokine involved in both innate and adaptive immune responses, has been widely considered in autoimmune-inflammatory rheumatic diseases.

Optimizing personalized psychological well-being interventions through digital phenotyping: results from a randomized non-clinical trial.

Background: Digital technologies, including smartphones, hold great promise for expanding mental health services and improving access to care. Digital phenotyping, which involves the collection of behavioral and physiological data using smartphones, offers a novel way to understand and monitor mental health. This study examines the feasibility of a psychological well-being program using a telegram-integrated chatbot for digital phenotyping.

Depression in adolescence and young adulthood: the difficulty to integrate motivational/emotional systems.

Depression is presented as a multi-factorial bio-psycho-social expression that has evolved primarily as an effect of stressors related to the motivational/emotional systems that regulate the in our relationship with conspecifics. These stressors may be caused by two sources of threat, firstly, the loss of bonding with the caregiver and later with a partner and/or group which relates to the SEPARATION (PANIC/GRIEF) system, secondly, social defeat as an expression of the social competition and social dominance. The sexual maturity drives the individual to social competition and social dominance, even if the latter often occurs before sexual maturity, e.

De novo transcriptome assembly of the Mediterranean sea-rock pool mosquitoes Aedes mariae and Aedes zammitii.

Understanding the genomic consequences of hybridization is an essential research focus in global change biology. Species adapted to rapidly changing environments can offer valuable, yet largely underexplored insights in this context. Here, we present the first de novo transcriptomes of the sea-rock pools mosquitoes Aedes mariae and Aedes zammitii, two species adapted to highly variable habitats.

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.

Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.

Enhanced recovery after surgery for adolescent idiopathic scoliosis: a revised systematic review and meta‑analysis.

Purpose: Adolescent idiopathic scoliosis surgery (AIS) is often associated with high costs and significant recovery challenges. Enhanced recovery after surgery (ERAS) protocols aim to improve outcomes, reducing hospital stays and complications compared to traditional (TD) pathways. This study evaluates the impact of ERAS protocols on AIS treatment.