Publications by authors named "Bertelli M"

Background: Since the beginning of the pandemic, contact tracing has been one of the most relevant issues to understand SARS-CoV-2 transmission dynamics and, in this context, the analysis of quasispecies may turn out to be a useful tool for outbreak investigations. Analysis of the intra-host single nucleotide variants (iSNVs) found in the nsp2, ORF3, and ORF7 genes of SARS-CoV-2 was conducted in order to correctly identify virus transmission chain among patients hospitalized in Brescia Civic Hospital.

Methods: During the period between August and October 2023, 13 nasopharyngeal specimens, collected from patients admitted to Brescia Civic Hospital, were tested for SARS-CoV-2 positivity and molecularly characterized.

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Clinical significance of a broad autism phenotype (BAP) seems to be increasingly supported by growing reports of high prevalence of subthreshold autism spectrum disorder (sASD) or autistic traits (AT) in various demographic samples, particularly in individuals with psychiatric conditions. We question this increasing extension of the autism spectrum and its potential negative consequences for clinical services, research, cultural attitudes, and resource allocation, as well as alternative explanations of what is currently attributed to sASD and AT. In modern psychiatry the diagnostic threshold is paramount and associated with a significant impairment of functioning, implying that symptom specificity is more relevant than sensitivity.

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Lipedema is a chronic disorder affecting women with a 10% incidence worldwide. It is often confused with obesity. This study was undertaken to study microRNAs in lipedema tissue assessed by direct hybridization using the robust n-counter flex DX CE-IVD platform.

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Background: The present observational cross-sectional study aimed at investigating the prevalence of feeding and eating disorders (FEEDs) in adults with intellectual disability (ID)/intellectual developmental disorder (IDD) with or without autism spectrum disorder (ASD) and specific problem behaviours (PBs).

Methods: Two hundred six adults with ID/IDD consecutively attending residential and rehabilitative facilities, 59.2% of which had co-occurring ASD, were assessed for presence of FEEDs by a structured interview specifically developed for the study and Diagnostic Manual - Intellectual Disability criteria.

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Objective: Despite increasing evidence of high psychopathological vulnerability in people with Autism Spectrum Disorder (ASD) and/or Intellectual disability (ID), comprehensive data on prevalence and presentation of psychiatric disorders (PD) in people with significant cognitive and communication impairment are lacking. The extent to which PD can present with behavioral/observable symptoms and include Problem Behaviors (PB) has also been scarcely evaluated through population-based studies. The paper presents the protocol of a cross-sectional study aimed at filling these gaps, referred to a large multicentric Italian population-based sample of adolescents and adults.

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Purpose: To examine whether the extension of retinal pigment epithelium (RPE) and outer retinal atrophy (RORA) and various other morphofunctional parameters correlate with the genetic assessment and severity of retinitis pigmentosa (RP).

Methods: Thirty-eight patients (76 eyes) with RP were prospectively enrolled and underwent full ophthalmic examination, including visual field testing, full-field electroretinography (ERG), and optical coherence tomography angiography. The severity of the disease was calculated using the RP stage scoring system, and the area of RORA was assessed using the automatically calculated area of sub-RPE illumination.

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Introduction: Concomitant manifestation of PPRCA in one eye and RP-like retinopathy in the fellow eye is a rare clinical entity, with limited published descriptions to date. The aim of this study is to describe comprehensive clinical evaluations and long-term follow-up of three patients affected by this clinical picture.

Methods: Three patients with concurrent PPRCA and RP-like retinopathy were prospectively re-evaluated and comprehensive assessments were performed.

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Article Synopsis
  • AI platforms are important tools in genetics and medicine, helping to analyze lots of patient data and find new diseases.
  • They are making it possible to better understand complex health issues and improve treatments for things like rare diseases and cancers.
  • These technologies are helping doctors make better decisions for patient care, leading to more personalized and effective treatments.
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Background: Liquid biopsy is considered a complementary and recently also an alternative method to surgical biopsy. It allows for the acquisition of valuable information regarding the potential presence of tumors, particularly through the analysis of circulating tumor DNA (ctDNA). CtDNA is a fraction of circulating free DNA (cfDNA) that can be extracted from various tissues, with blood being the most readily available.

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Matching of various chalcogenide films shows the advantage of delivering multilayer heterostructures whose physical properties can be tuned with respect to the ones of the constituent single films. In this work, (Ge-Sb-Te)-based heterostructures were deposited by radio frequency sputtering on Si(100) substrates and annealed up to 400 °C. The as-deposited and annealed samples were studied by means of X-ray fluorescence, X-ray diffraction, scanning transmission electron microscopy, electron energy loss spectroscopy and Raman spectroscopy.

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Background: Left ventricular lead positioning represents a key step in CRT optimization. However, evidence for its guidance based on specific topographical factors and related imaging techniques is sparse.

Objective: To analyze reverse remodeling (RR) and clinical events in CRT recipients based on LV cathode (LVC) position relative to latest mechanical activation (LMA) and scar as determined by cardiac magnetic resonance (CMR).

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The article "Correlation between COVID-19 and air pollution: the effects of PM2.5 and PM10 on COVID-19 outcomes", by E. Kalluçi, E.

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Background: The human microbiome, consisting of diverse bacte-rial, fungal, protozoan and viral species, exerts a profound influence on various physiological processes and disease susceptibility. However, the complexity of microbiome data has presented significant challenges in the analysis and interpretation of these intricate datasets, leading to the development of specialized software that employs machine learning algorithms for these aims.

Methods: In this paper, we analyze raw data taken from 16S rRNA gene sequencing from three studies, including stool samples from healthy control, patients with adenoma, and patients with colorectal cancer.

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The article "Autoantibodies detection in patients affected by autoimmune retinopathies", by M.R. Ceccarini, M.

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The article "Metabolomic profiling of amino acid alterations in anorexia nervosa: implications for appetite regulation and therapeutic strategies", by K. Donato, K. Dhuli, A.

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The article "The potential preventive role of a dietary supplement containing hydroxytyrosol in COVID-19: a multi-center study", by K. Dhuli, C. Micheletti, M.

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Introduction: Retinitis pigmentosa (RP), a heterogeneous inherited retinal disorder causing gradual vision loss, affects over 1 million people worldwide. Pathogenic variants in CNGA1 and CNGB1 genes, respectively, accounting for 1% and 4% of cases, impact the cyclic nucleotide-gated channel in rod photoreceptor cells. The aim of this study was to describe and compare genotypic and clinical characteristics of a cohort of patients with CNGA1- or CNGB1-related RP and to explore potential genotype-phenotype correlations.

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Article Synopsis
  • The COVID-19 pandemic led to the use of non-pharmaceutical interventions (NPIs) that reduced the spread of not only SARS-CoV-2 but also various other respiratory viruses like Influenza and Rhinovirus.
  • A study analyzed respiratory virus samples from June 2021 to March 2023 to understand the effects of lifting NPIs post-pandemic compared to the pandemic period.
  • Findings indicated that NPIs were effective in controlling multiple respiratory viruses, with Rhinoviruses and Enteroviruses being the most prevalent, often detected in co-infection cases, highlighting the need for robust molecular screening for better surveillance and prevention.
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Objective: To report variants in 26 candidate genes and describe the clinical features of Italian patients with keratoconus (KC).

Subjects/methods: Sixty-four patients with a confirmed diagnosis of KC were enrolled in this genetic association study. Patients were classified into two study groups according to whether they had a confirmed diagnosis of progressive or stable KC.

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Background: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management.

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Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (6 Suppl): 89-99-DOI: 10.26355/eurrev_202312_34693 After publication and following some post-publication concerns, the authors have applied the following corrections to the galley proof. -       The conflict of interest section has been amended as follows: M.

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Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (6 Suppl): 77-88-DOI: 10.26355/eurrev_202312_34692 After publication and following some post-publication concerns, the authors have applied the following corrections to the galley proof. The conflict of interest section has been amended as follows: K.

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Correction to: Eur Rev Med Pharmacol Sci 2023; 27 (6 Suppl): 127-136-DOI: 10.26355/eurrev_202312_34697 After publication and following some post-publication concerns, the authors have applied the following corrections to the galley proof. -       The conflict of interest section has been amended as follows: J.

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The article "Presence of viral spike protein and vaccinal spike protein in the blood serum of patients with long-COVID syndrome", by K. Dhuli, M.C.

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