An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.

Background: Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or late onset; therapy modifies the outcome but does not alter the severity of the disease at presentation.

Case Presentation: We present a case report of a male infant, inborn and delivered at a gestational age of 39 weeks.

A hard-to-heal wound: a case study on the collaboration between nonprofit and Public Health Sector in Southern Italy.

This paper presents a case study of the barriers to care faced by a 44-year-old patient from Ivory Coast who has been living in Italy for 15 years. The patient visited his general practitioner (GP) in his neighborhood in southern Italy, seeking treatment for a complex workplace-related hand injury for which parenteral antibiotic therapy was recommended. During the medical examination, the physician also diagnosed the patient with diabetes mellitus and prescribed specialist examinations (i.

Cold Knife Hysteroscopic Myomectomy: A Literature Review on Its Role as a Fertility Sparing Tool.

Unlabelled: Cold knife hysteroscopic myomectomy (CKHM) is a minimally invasive surgical technique used to remove submucosal fibroids, commonly associated with infertility.

Methods: A comprehensive literature search was conducted across databases including PubMed, Scopus, and Google Scholar, focusing on studies published from 2011 to 2024. The aim of this narrative review was to highlight the minimally invasive cold loop resectoscopic approach for the treatment of submucosal fibroids.

Transport across membrane meets biophysics to unveil the mechanism of action of a novel gH625 analogue.

Cell-penetrating peptides are widely used in drug delivery for their ability to facilitate the transport of nanomaterials inside the cell. We previously studied the gH-625 for its ability to cross cell membranes, delivering various cargos into different cell types. In this study, since gH-625 suffers from low proteolytic stability, we identified the main cleavage sites after incubation with the enzyme chymotrypsin, and l-amino acids at these sites were replaced with their d-enantiomers, which share similar physicochemical properties but have distinct biological roles.

Factors Affecting Hair Cortisol Concentration in Domestic Dogs: A Focus on Factors Related to Dogs and Their Guardians.

Considering the controversial findings in the existing literature, this study aimed to deepen the knowledge about Hair Cortisol Concentration (HCC) in dogs by evaluating the influence on HCC of some factors related to dogs and guardians. Hair was collected from two groups: 128 Healthy Dogs (HD) and 25 dogs with a primary Chronic Gastroenteric Disease (CGD). Guardians of HD filled in a questionnaire, including dogs and respondents' demographic information, and the perceived welfare and behaviour of the dog.

Cardiovascular Safety Profile of BRAF and MEK Inhibitors in Melanoma: FAERS Data Through a Retrospective Disproportionality Analysis (2014-2023).

The combination of BRAF and MEK inhibitors (BRAF/MEKi) has significantly improved survival in melanoma patients with BRAF V600 mutations. However, these agents can cause cardiovascular (CV) toxicity, compromising efficacy. This study evaluated the CV adverse events (cAEs) associated with BRAF/MEKi using the U.

MSLesSeg: baseline and benchmarking of a new Multiple Sclerosis Lesion Segmentation dataset.

This paper presents MSLesSeg, a new, publicly accessible MRI dataset designed to advance research in Multiple Sclerosis (MS) lesion segmentation. The dataset comprises 115 scans of 75 patients including T1, T2 and FLAIR sequences, along with supplementary clinical data collected across different sources. Expert-validated annotations provide high-quality lesion segmentation labels, establishing a reliable human-labeled dataset for benchmarking.

A New Algorithm for Masculine Chest-Wall Contouring in 560 Trans-AFAB (Assigned Female at Birth) Patients: Clinical Outcomes and Patient-Reported Satisfaction Using the TRANS-Q Questionnaire.

Introduction: The preoperative plan is crucial in chest-wall contouring surgery. Choosing the right surgical technique may be challenging, especially when there are many variables to consider. Therefore, the senior author (GLR) described a novel and simpler preoperative algorithm which we used in our group of 560 trans-AFAB patients.

From cellular perturbation to probabilistic risk assessments.

Chemical risk assessment is evolving from traditional deterministic approaches to embrace proba­bilistic methodologies, where risk of hazard manifestation is understood as a more or less probable event depending on exposure, individual factors, and stochastic processes. This is driven by advancements in human stem cells, complex tissue engineering, high-performance computing, and cheminformatics, and is more recently facilitated by large-scale artificial intelligence models. These innovations enable a more nuanced understanding of chemical hazards, capturing the complexity of biological responses and variability within populations.

Unveiling cardiovascular and respiratory toxicities with monoclonal antibodies in multiple myeloma: disproportionality analysis from the FDA Adverse Event Reporting System.

Introduction: Monoclonal antibodies (mAbs) have revolutionized the treatment of multiple myeloma (MM), demonstrating remarkable effectiveness, despite potential adverse events (AEs). This study aims to identify unexpected signals of disproportionate reporting (SDRs) for cardiovascular (CV) and respiratory AEs associated with mAbs in MM treatment.

Methods: From January 2015 to December 2023, reports involving suspected drugs (daratumumab, elotuzumab, elranatamab, isatuximab, belantamab mafodotin, teclistamab, and talquetamab) were analyzed in the US Food and Drug Administration Adverse Event Reporting System (FAERS) database.

In vitro approaches to investigate the effect of chemicals on antibody production: the case study of PFASs.

The increasing variety and quantity of new chemical substances have raised concerns about their potential immunotoxic effects, making it essential to assess their impact on human health. One key concern is the reduction of antibody production, as seen with per- and poly-fluoroalkyl substances (PFASs), commonly known as "forever chemicals." Both in vivo and epidemiological data show that PFASs have immunosuppressive effects, leading to reduced antibody responses, particularly following vaccination.

Four months daily rifampicin vs. 3 months daily rifampicin/isoniazid for the treatment of tuberculosis infection in asylum seekers: a randomized controlled trial.

Objectives: Treatment of tuberculosis (TB) infection is a core intervention of the TB elimination strategy. The WHO recommends both 4 months of daily rifampicin (4R) and 3 months of daily isoniazid/rifampicin (3HR) for preventive therapy, but no trial directly compared the two regimens. We measured the completion rate and tolerability of 4R and 3HR for TB preventive therapy.

[Multidisciplinary and multiprofessional care to multimorbid chronic patients with cardiovascular disease: the experience of the Azienda Sanitaria Universitaria Giuliano Isontina].

The world of chronic non-communicable diseases is progressively growing epidemiologically, requiring a significant commitment of resources, continuity of care, and strong integration between healthcare professionals and care settings. The National Recovery and Resilience Plan, in the Ministerial Decree 77 of 23/5/2022, identifies Community Homes as the privileged location for providing integrated, multidisciplinary and multiprofessional interventions, involving specialists and nursing clinics, general practitioners and district structures, utilizing all the necessary technological equipment, including digital platforms for telemedicine. In this context, cardiology is facing a complicated challenge: cardiologists must take care of patients with cardiovascular diseases who have also complex comorbidities and are required to extend their knowledge beyond the specific, sometimes super-specialistic, cardiovascular field, to avoid fragmentation, redundancy, and potential conflicts in the diagnostic-therapeutic care pathways.

Late-Stage Functionalization Using a Popular Titrating Agent: Aryl-Chlorides and -Fluorides Activation by the Diphenylacetic Acid Dianion.

Aryl-chlorides and -fluorides are common building blocks, but their use in synthesis is limited by the high stability of their Ar-X bonds. The generation of aryl radicals via activation of strong Ar-X bonds is possible through the irradiation of tailor-made organic anions, which become reductants stronger than lithium metal. We report that the combination of visible light with the cheap diphenylacetic acid dianion is an even better tool, showing excellent activity across a variety of complex substrates and providing opportunities for late-stage drug modification.

Pioneering bioinformatics with agent-based modelling: an innovative protocol to accurately forecast skin or respiratory allergic reactions to chemical sensitizers.

The assessment of the allergenic potential of chemicals, crucial for ensuring public health safety, faces challenges in accuracy and raises ethical concerns due to reliance on animal testing. This paper presents a novel bioinformatic protocol designed to address the critical challenge of predicting immune responses to chemical sensitizers without the use of animal testing. The core innovation lies in the integration of advanced bioinformatics tools, including the Universal Immune System Simulator (UISS), which models detailed immune system dynamics.

Evaluating the efficacy of whole genome sequencing in predicting susceptibility profiles for first-line antituberculosis drugs.

Objectives: This study aimed to examine the efficacy of whole genome sequencing (WGS) in accurately predicting susceptibility profiles, potentially eliminating the need for conventional phenotypic drug susceptibility testing (pDST) for first-line antituberculosis drugs in routine tuberculosis diagnosis.

Methods: Over the period of 2017 to 2020, 1114 Mycobacterium tuberculosis complex isolates were collected with drug susceptibility testing conducted using the MGIT960 system and WGS performed for predicting drug resistance profiles. In addition, we implemented a new algorithm with an updated WGS workflow, omitting pan-susceptible strains from pDST.

Dynamic remodeling of septin structures fine-tunes myogenic differentiation.

Controlled myogenic differentiation is integral to the development, maintenance and repair of skeletal muscle, necessitating precise regulation of myogenic progenitors and resident stem cells. The transformation of proliferative muscle progenitors into multinuclear syncytia involves intricate cellular processes driven by cytoskeletal reorganization. While actin and microtubles have been extensively studied, we illuminate the role of septins, an essential yet still often overlooked cytoskeletal component, in myoblast architecture.

uL3 Regulates Redox Metabolism and Ferroptosis Sensitivity of p53-Deleted Colorectal Cancer Cells.

Despite advancements in therapeutic strategies, the development of drug resistance and metastasis remains a serious concern for the efficacy of chemotherapy against colorectal cancer (CRC). We have previously demonstrated that low expression of ribosomal protein uL3 positively correlates with chemoresistance in CRC patients. Here, we demonstrated that the loss of uL3 increased the metastatic capacity of CRC cells in chick embryos.

Advancing PFAS risk assessment: Integrative approaches using agent-based modelling and physiologically-based kinetic for environmental and health safety.

Per- and polyfluoroalkyl substances (PFAS), ubiquitous in a myriad of consumer and industrial products, and depending on the doses of exposure represent a hazard to both environmental and public health, owing to their persistent, mobile, and bio accumulative properties. These substances exhibit long half-lives in humans and can induce potential immunotoxic effects at low exposure levels, sparking growing concerns. While the European Food Safety Authority (EFSA) has assessed the risk to human health related to the presence of PFAS in food, in which a reduced antibody response to vaccination in infants was considered as the most critical human health effect, a comprehensive grasp of the molecular mechanisms spearheading PFAS-induced immunotoxicity is yet to be attained.

First Feeding of Cuttlefish Hatchlings: Pioneering Attempts in Captive Breeding.

In the last few decades, the cuttlefish market has grown to approximately 14% of the world's fisheries, and operators have begun to express concerns about the decline of this resource. In this context, the production of cuttlefish through aquaculture could offer a diversifying and valuable response to the increasing market demand and help alleviate the environmental pressure on this species. Therefore, the aim of this study is to identify a dry, cost-effective, and easy-to-administer diet that can successfully support the initial phases of cuttlefish growth and provide a similar performance to a krill-based diet, which closely mimics their natural diet.