Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome.

Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptional and post-transcriptional levels.

Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.

Sarcoglycanopathies are heterogeneous proximo-distal diseases presenting severe muscle alterations. Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four sarcoglycan transmembrane proteins (alpha, beta, gamma and delta) forming the sarcoglycan complex (SGC) in skeletal and cardiac muscle. Little is known about the different roles of the SGC beyond the dystrophin glycoprotein complex (DGC) structural role.

Safety and efficacy of early initiation of sodium-glucose co-transporter inhibitors 2 in patients hospitalized for acute heart failure: A meta-analysis of randomized controlled trials.

Aims: Data on the early use of sodium-glucose co-transporter 2 inhibitors (SGLT2i) in patients with acute heart failure (HF) are conflicting, and mostly evaluating soft endpoints (i.e., indices of congestion, renal function, ejection fraction, and diuresis).

Selective expression and significance of ACKR2 in lung aerocytes.

Background: ACKR2 is an atypical chemokine receptor that plays a significant role in regulating inflammation by binding to inflammatory CC chemokines and facilitating their degradation. Previous findings suggest that the genetic absence of ACKR2 leads to heightened tumor growth in inflammation-driven models. Conversely, mice lacking ACKR2 exhibit protection against lung metastasis in melanoma and breast cancer models.

Hemp tea waste-immobilized lipase for the synthesis of alkyl oleates in solvent free systems.

This study explores the immobilization of lipase from Candida rugosa (CRL) on hemp tea waste to catalyze the esterification of oleic acid with primary aliphatic C2-C12 alcohols. in a solvent-free system. The immobilization method employed was adsorption, chosen for its simplicity, low cost, and ability to preserve enzyme activity.

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.