Publications by authors named "Elia M"

Radiocarbon analysis in bones, particularly through Bomb Pulse dating, is an essential tool in forensic investigations for estimating the postmortem interval of human remains. However, there are some limitations related to the interpretation of laboratory data, since this can differ from the Post Mortem Interval by many years, depending on the anatomical district and the bone part sampled, as well as the age of the individual and other parameters, since these elements influence bone turnover. In recent years, many studies have been conducted, but with non-standardized data and on limited samples.

View Article and Find Full Text PDF

Molecular recognition events between proteins drive biological processes in living systems. However, higher levels of mechanistic regulation have emerged, in which protein-protein interactions are conditioned to small molecules. Despite recent advances, computational tools for the design of new chemically induced protein interactions have remained a challenging task for the field.

View Article and Find Full Text PDF

Studying human activity in coastal areas is crucial for urban planning, sustainability, and economic development. However, there is limited evidence of ongoing monitoring of human activities in these areas. Thus, a quantitative analysis of the spatio-temporal changes, trends, and variability of Nighttime light (NTL) in the Italian Coastal Zone over the past decade (2014-2023) was conducted to assess human activity dynamics.

View Article and Find Full Text PDF

Fibromyalgia (FM) is a chronic disorder that causes damage to the neuro-muscular system and alterations in the intestinal microbiota and affects the psychological state of the patient. In our previous study, we showed that 22 women patients subjected to a specific very low-carbohydrate ketogenic therapy (VLCKD) showed an improvement in clinical scores as well as neurotransmission-related and psychological dysfunctions and intestinal dysbiosis. Furthermore, NMR metabolomic data showed that changes induced by VLCKD treatment were evident in all metabolic pathways related to fibromyalgia biomarkers.

View Article and Find Full Text PDF

: This study investigates the effectiveness of an herbal formulation, STRESSLESS (ST-65), which combines ashwagandha () and bacopa (), on SH-SY5Y human neuroblastoma cells. Given the rising interest in natural compounds for neuroprotection and stress alleviation, we aimed to explore the cellular and molecular effects of this formulation. : Utilizing a nuclear magnetic resonance (NMR) metabolomic approach and ultra-high-performance liquid chromatography-high-resolution mass spectrometry (UHPLC-HRMS), we identified key bioactive compounds in ST-65, including withanolides from ashwagandha and bacosides from bacopa.

View Article and Find Full Text PDF

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

View Article and Find Full Text PDF
Article Synopsis
  • - Pathogenic variants in the SETD5 gene are linked to a neurodevelopmental disorder presenting intellectual disability, autism, and facial dysmorphisms, with some symptoms not appearing in every individual (incomplete penetrance).
  • - A study of 28 patients revealed various neurological symptoms, including low muscle tone (hypotonia), movement disorders, gait issues, and epilepsy in 14% of cases; cognitive impairments ranged from mild to severe in most participants.
  • - The research expands on existing literature to propose a correlation between specific gene variations (genotype) and the observed symptoms (phenotype) in SETD5-related disorders.
View Article and Find Full Text PDF
Article Synopsis
  • A global survey of oncology healthcare providers was conducted to assess their awareness, experiences, and educational needs regarding climate change and its impact on healthcare.
  • The survey received 154 responses from 26 countries, revealing that extreme heat and heavy rains are the most common climate-related events affecting cancer care.
  • A significant majority of respondents recognize the issue, with 98.7% aware of global warming and 88.3% wanting more education on how climate change influences cancer care, favoring formats like webinars and e-learning.
View Article and Find Full Text PDF

The identification of a point mutation (p.Ser59Leu) in the CHCHD10 gene was the first genetic evidence that mitochondrial dysfunction can trigger motor neuron disease. Since then, we have shown that this mutation leads to the disorganization of the MItochondrial contact site and Cristae Organizing System (MICOS) complex that maintains the mitochondrial cristae structure.

View Article and Find Full Text PDF

Background: In atrial fibrillation (AF) management, understanding left atrial (LA) substrate is crucial. While both electroanatomic mapping (EAM) and late gadolinium enhancement magnetic resonance imaging (LGE-MRI) are accepted methods for assessing the atrial substrate and are associated with ablation outcome, recent findings have highlighted discrepancies between low-voltage areas (LVAs) in EAM and LGE areas.

Objective: The purpose of this study was to explore the relationship between LGE regions and unipolar and bipolar LVAs using multipolar high-density mapping.

View Article and Find Full Text PDF

This article delves into the intricate relationship between oral health, quality of life, and behavioral characteristics in individuals with autism spectrum disorder (ASD). Autism has been associated with various challenges, and this study seeks to elucidate the impact of ASD on oral health outcomes and overall well-being. The research focuses on assessing overall oral health by evaluating various parameters, such as the condition of lips, tongue, gums and tissues, natural teeth, dentures, oral hygiene, and dental pain in individuals with ASD.

View Article and Find Full Text PDF

Global prevalence rates for transgender individuals vary with estimates ranging from 0.3% to 1%, translating to a potential global population of 24.3 million to 81 million.

View Article and Find Full Text PDF

Hypoxic-ischemic brain damage presents a significant neurological challenge, often manifesting during the perinatal period. Specifically, periventricular leukomalacia (PVL) is emerging as a notable contributor to cerebral palsy and intellectual disabilities. It compromises cerebral microcirculation, resulting in insufficient oxygen or blood flow to the periventricular region of the brain.

View Article and Find Full Text PDF

Objective: Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish a consensus on key issues related to these conditions through collaboration among experienced neurologists, neuropediatricians, and patient advocacy representatives.

Methods: Employing a modified Delphi method, a scientific board comprising 20 physicians and 4 patient advocacy representatives synthesized existing literature with their expertise to formulate statements on contentious topics.

View Article and Find Full Text PDF

Objective: This study was undertaken to assess the effectiveness/tolerability of adjunctive cenobamate, variations in the load of concomitant antiseizure medications (ASMs) and predictors of clinical response in people with focal epilepsy.

Methods: This was a retrospective study at 21 centers participating in the Italian Expanded Access Program. Effectiveness outcomes included retention and responder rates (≥50% and 100% reduction in baseline seizure frequency).

View Article and Find Full Text PDF

() genes, a recently discovered gene family, play crucial roles in the regulation of neuronal stem cell proliferation and glial differentiation during nervous system development and neurogenesis. Whole exome sequencing (WES) in patients presenting with generalized epilepsy, intellectual disability, and childhood emotional behavioral disorder, uncovered a variation within gene. Notably, this gene has never been associated with neurodevelopmental disorders.

View Article and Find Full Text PDF

E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved in the ubiquitination process are often associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). In the current study, a de novo heterozygous mutation was identified in the splicing intronic region adjacent to the last exon of the ARIH2 gene using whole exome sequencing (WES).

View Article and Find Full Text PDF
Article Synopsis
  • * Current diagnosis is based on clinical evaluations, and treatment primarily focuses on managing symptoms, although there's growing interest in the potential link between FM and systemic metabolic dysfunctions.
  • * This study explores the effects of two dietary interventions—a very-low-calorie ketogenic diet (VLCKD) and a low-glycemic insulinemic (LOGI) diet—on female FM patients over 45 days, aiming to assess their impact on metabolic dysfunctions associated with the condition.
View Article and Find Full Text PDF

Challenges drive the state-of-the-art of automated medical image analysis. The quantity of public training data that they provide can limit the performance of their solutions. Public access to the training methodology for these solutions remains absent.

View Article and Find Full Text PDF

CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine-threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000-60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development.

View Article and Find Full Text PDF

Background And Aims: Peroral endoscopic myotomy (POEM) is a standard treatment option for achalasia patients. Treatment response varies due to factors such as achalasia type, degree of dilatation, pressure and distensibility indices. We present an innovative approach for treatment response prediction based on an automatic three-dimensional (3-D) reconstruction of the tubular oesophagus (TE) and the lower oesophageal sphincter (LES) in patients undergoing POEM for achalasia.

View Article and Find Full Text PDF
Article Synopsis
  • Autism is a common condition influenced by both single gene issues and multiple genes, and many autistic people need better healthcare that genomics can help provide.
  • The European Autism GEnomics Registry (EAGER) aims to collect info about autistic people who have had their entire DNA sequenced to help with future research and trials.
  • EAGER will involve 1,500 participants from 13 places in 8 countries who will share genetic samples and fill out surveys to help researchers understand the link between genetics and health.
View Article and Find Full Text PDF

Poly(phenylene methylene) (PPM) is a multifunctional polymer that is also active as an anticorrosion fluorescent coating material. Although this polymer was synthesized already more than 100 years ago, a versatile synthetic route to obtain soluble high molar mass polymers based on PPM has yet to be achieved. In this article, the influence of bifunctional bis-chloromethyl durene (BCMD) as a branching agent in the synthesis of PPM is reported.

View Article and Find Full Text PDF

Background: Carotid near-occlusion (CNO) represents an anatomical-functional condition characterized by severe (more than 90%) internal carotid artery stenosis which can lead to a distal lumen diameter greater or less than 2 mm. CNO can be divided into a less severe subgroup (without lumen full collapse: diameter >2 mm) and a more severe subgroup (with lumen full collapse: diameter <2 mm). The decision for revascularization is still highly debated in Literature.

View Article and Find Full Text PDF