Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Background: Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients.

How reliable is artificial intelligence in the diagnosis of cholesteatoma on CT images?

Purpose: This study analysed the main artificial intelligence (AI) models for the diagnosis of cholesteatoma on computed tomography (CT), evaluating their performance and comparing them with each other. The increasing application of AI in radiology requires a systematic comparison of available methodologies.

Methods: A systematic literature review was conducted, selecting relevant articles from the main databases.

Kaolinite bioformation at surface conditions: The role of fungi and bacteria.

Experiments aimed at studying the role of microorganisms in the formation of kaolinite from aluminosilicate solutions (Si:Al = 1:1) are reported. The experiments were carried out at room temperature in presence of living microorganisms, Leonardite humic acid, bacterial debris, bacterial exopolysaccharides (EPS), and some organic ligands. The bacterial debris, EPS, Leonardite and organic ligands were chosen to stabilize Al in octahedral coordination for allowing the crystallization of kaolinite.

3D Modeling: Insights into the Metabolic Reprogramming of Cholangiocarcinoma Cells.

Developing accurate in vitro models that replicate the in vivo tumor environment is essential for advancing cancer research and therapeutic development. Traditional 2D cell cultures often fail to capture the complex structural and functional heterogeneity of tumors, limiting the translational relevance of findings. In contrast, 3D culture systems, such as spheroids, provide a more physiologically relevant context by replicating key aspects of the tumor microenvironment.

Local anesthesia vs. general anesthesia in cochlear implant surgery: Impact on surgical duration, postoperative recovery, costs and clinical insights. An extensive meta-analysis.

Introduction: recent studies have shown that around 30 % of men and 20 % of women at the age of 70 have a hearing loss, rates that rise to 55 % and 45 % respectively at the age of 80. Treatment options include hearing aids and cochlear implants. Cochlear implant surgery under local anesthesia (L.

Efficacy of tailor-made notched music training for primary tinnitus: A systematic review and meta-analysis.

Objective: We systematically reviewed and meta-analyzed the efficacy of Tailor-Made Notched Music Training (TMNMT) for primary subjective tinnitus in adults. The main goal was to evaluate TMNMT's impact on tinnitus symptoms.

Methods: Following PRISMA guidelines, we included randomized and non-randomized trials.

Staphylococcus pseudintermedius and Pseudomonas aeruginosa Lubbock Chronic Wound Biofilm (LCWB): a suitable dual-species model for in vitro studies.

Antimicrobial treatment of methicillin-resistant Staphylococcus pseudintermedius associated with canine wounds represents an important challenge. The aim of this study was to create a canine wound infection model, Lubbock Chronic Wound Biofilm (LCWB), with a focus on S. pseudintermedius, drawing inspiration from the established human model involving Staphylococcus aureus.

Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB.

Mucopolysaccharidoses (MPSs) are lysosomal disorders with neurological involvement for which no cure exists. Here, we show that recombinant NK1 fragment of hepatocyte growth factor rescues substrate accumulation and lysosomal defects in MPS I, IIIA and IIIB patient fibroblasts. We investigated PI3K/Akt pathway, which is of crucial importance for neuronal function and survival, and demonstrate that PI3K inhibition abolishes NK1 therapeutic effects.

Early consequences of the phospholamban mutation PLN-R14del in a transgenic mouse model.

Aims: The heterozygous phospholamban (PLN) mutation R14del (PLN R14del ) is associated with a severe arrhythmogenic cardiomyopathy (ACM) developing in the adult. "Superinhibition" of SERCA2a by PLN R14del is widely assumed to underlie the pathogenesis, but alternative mechanisms such abnormal energy metabolism have also been reported. This work aims to (1) to evaluate Ca dynamics and energy metabolism in a transgenic (TG) mouse model of the mutation prior to cardiomyopathy development; (2) to test whether they are causally connected.

Remote monitoring of implantable cardiac monitors in patients with unexplained syncope: Predictors of false-positive alert episodes.

Background: Remote monitoring is recommended for patients with implantable cardiac monitors (ICMs), but compared to other cardiac implantable devices, ICMs are less accurate and transmit a higher number of alerts.

Objective: The aim of this study was to investigate the predictors of false-positive (FP) arrhythmic alerts in patients with unexplained syncope who were implanted with ICM and followed by an automatic remote monitoring system.

Methods: We retrospectively evaluated all consecutive patients who received a long-sensing vector ICM for unexplained syncope between January 2019 to September 2021 at our Syncope Unit.

Association between exposure to wind turbines and sleep disorders: A systematic review and meta-analysis.

To date, there is scarce evidence on the association between sleep disorders and noise generated by wind turbines. We searched six relevant electronic databases from the inception to May 2023 for relevant articles. The methodological quality of the included articles was evaluated using the US National Institutes of Health tool.

Inorganic Carbon Assimilation and Electrosynthesis of Platform Chemicals in Bioelectrochemical Systems (BESs) Inoculated with N1-H4.

The need for greener processes to satisfy the demand of platform chemicals together with the possibility of reusing CO from human activities has recently encouraged research on the set-up, optimization, and development of bioelectrochemical systems (BESs) for the electrosynthesis of organic compounds from inorganic carbon (CO, HCO). In the present study, we tested the ability of N1-4 (DSMZ 14923) to produce acetate and D-3-hydroxybutyrate from inorganic carbon present in a CO:N gas mix. At the same time, we tested the ability of a MR1 and PA1430/CO1 consortium to provide reducing power to sustain carbon assimilation at the cathode.

Evaluation of Muscle Proteins for Estimating the Post-Mortem Interval in Veterinary Forensic Pathology.

Postmortem cadaveric changes are commonly used to estimate the postmortem interval (PMI) in humans and animals. However, these modifications have been poorly investigated in animals of interest to veterinary forensic pathology. The aim of this study was to investigate the potential use of muscle proteins (desmin and dystrophin) as biomarkers for estimating the PMI in dogs.

-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome.

Sanfilippo syndrome comprises a group of four genetic diseases due to the lack or decreased activity of enzymes involved in heparan sulfate (HS) catabolism. HS accumulation in lysosomes and other cellular compartments results in tissue and organ dysfunctions, leading to a wide range of clinical symptoms including severe neurodegeneration. To date, no approved treatments for Sanfilippo disease exist.

Community consensus on core open science practices to monitor in biomedicine.

The state of open science needs to be monitored to track changes over time and identify areas to create interventions to drive improvements. In order to monitor open science practices, they first need to be well defined and operationalized. To reach consensus on what open science practices to monitor at biomedical research institutions, we conducted a modified 3-round Delphi study.

Vaccination Confidence among Healthcare Workers: Results from Two Anamnestic Questionnaires Adopted in the COVID-19 and Influenza Campaign.

Background: Following the announcement of the development of COVID-19 vaccines, hesitancy about the safety of vaccinations and their side effects have spread, despite having the approval of international drug agencies. The aim of this study was to test the hypothesis that concern about side effects may have led people to fill out the COVID-19 anamnestic vaccine questionnaire with greater attention compared to the similar instrument used for the influenza vaccination.

Methods: We analyzed vaccination questionnaires of 218 healthcare workers (HCWs) who underwent both COVID-19 and influenza vaccines in 2020/2021.

Lysosomal positioning diseases: beyond substrate storage.

Lysosomal storage diseases (LSDs) comprise a group of inherited monogenic disorders characterized by lysosomal dysfunctions due to undegraded substrate accumulation. They are caused by a deficiency in specific lysosomal hydrolases involved in cellular catabolism, or non-enzymatic proteins essential for normal lysosomal functions. In LSDs, the lack of degradation of the accumulated substrate and its lysosomal storage impairs lysosome functions resulting in the perturbation of cellular homeostasis and, in turn, the damage of multiple organ systems.

A Comprehensive Characterization of Stemness in Cell Lines and Primary Cells of Pancreatic Ductal Adenocarcinoma.

The aim of this study is to provide a comprehensive characterization of stemness in pancreatic ductal adenocarcinoma (PDAC) cell lines. Seventeen cell lines were evaluated for the expression of cancer stem cell (CSC) markers. The two putative pancreatic CSC phenotypes were expressed heterogeneously ranging from 0 to 99.

The Key Role of Lysosomal Protease Cathepsins in Viral Infections.

Cathepsins encompass a family of lysosomal proteases that mediate protein degradation and turnover. Although mainly localized in the endolysosomal compartment, cathepsins are also found in the cytoplasm, nucleus, and extracellular space, where they are involved in cell signaling, extracellular matrix assembly/disassembly, and protein processing and trafficking through the plasma and nuclear membrane and between intracellular organelles. Ubiquitously expressed in the body, cathepsins play regulatory roles in a wide range of physiological processes including coagulation, hormone secretion, immune responses, and others.

Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies.

Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inborn mutations of lysosomal enzymes, which lead to lysosome substrate accumulation in various cell types [...

An inter-method comparison of four Human Reliability Assessment models.

This paper presents a comparison of four common Human Reliability Assessment (HRA) models through a scoping literature review and sensitivity analysis. The scoping literature review identified 72 relevant studies which formed the basis of the comparison. Studies reported the four selected models have similarities in terms of the sector of origin, applied sectors, output calculation, and a lack of clear guidelines on Performance Influencing Factors (PIFs) selection and risk level allocation.

Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB.

Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders associated with the deficiency of lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting cellular accumulation of GAGs is responsible for widespread tissue and organ dysfunctions. The MPS III, caused by mutations in the genes responsible for the degradation of heparan sulfate (HS), includes four subtypes (A, B, C, and D) that present significant neurological manifestations such as progressive cognitive decline and behavioral disorders.