Publications by authors named "D'amato M"
Background: Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase (DPD), encoded by the gene. About 7% of the European population is a carrier of gene polymorphisms associated with reduced DPD enzyme activity.
Aim: To assess the prevalence of polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.
Background: The coronavirus disease 2019 (COVID-19) emergency has represented a profound upheaval in the dynamics of infectious diseases transmission worldwide. This phenomenon has been at least in part driven by the introduction of non-pharmaceutical interventions (NPIs), implemented to counteract viral transmission. Our study aimed to assess the magnitude and the features of the impact of the COVID-19 pandemic on the incidence of notifiable infectious diseases (NIDs) in the Lazio region, Italy.
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- Southern Africa has a long history of human habitation, with diverse immigration affecting the original KhoeSan populations over thousands of years, leading to their decline or admixture, primarily involving KhoeSan women.
- The study analyzed mitochondrial DNA from 247 South African individuals focused on groups with historical ties to KhoeSan populations to evaluate genetic diversity and connectivity among these groups.
- Results showed 142 distinct haplotypes, predominantly haplogroup L0, especially within admixed populations, indicating significant population structure and limitations in using mtDNA analysis for forensic purposes due to observed regional variations and matrilocal patterns.
Objectives: Patient perception of treatment effectiveness is key to optimizing adherence. This is potentially impacted by color, yet no such studies have been conducted in asthma. This study assessed the influence of pink vs.
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- The study aimed to find protein signatures in blood that could help identify individuals at high risk for inflammatory bowel disease (IBD), specifically Crohn's disease (CD) and ulcerative colitis.
- Researchers analyzed blood samples from a large population, utilizing machine-learning methods to identify and validate these protein signatures across multiple cohorts.
- A specific combination of 29 proteins was effective in differentiating preclinical CD cases from controls, achieving a high accuracy, while the prediction for ulcerative colitis was less robust but still significant.
Background & Aims: Limiting the dietary intake of certain carbohydrates has therapeutic effects in some but not all irritable bowel syndrome (IBS) patients. We investigated genetic variation in human Carbohydrate-Active enZYmes (hCAZymes) genes in relationship to the response to a FODMAP-lowering diet in the DOMINO study.
Methods: hCAZy polymorphism was studied in patients with IBS from the dietary (FODMAP-lowering; n = 196) and medication (otilonium bromide; n = 54) arms of the DOMINO trial via targeted sequencing of 6 genes of interest (AMY2B, LCT, MGAM, MGAM2, SI, and TREH).
Article Synopsis
- - This study found two types of patients with severe eosinophilic asthma who respond differently to the medication mepolizumab.
- - Patients with a family history of asthma, positive skin tests, and higher lung function showed better responses to treatment.
- - The findings emphasize the importance of tailoring treatment plans to individual patient characteristics for improved outcomes.
Introduction: At the end of 2019 a new virus, called SARS-CoV-2, emerged in Wuhan, China. The aim of the present study was to assess the impact of the first wave of the COVID-19 pandemic on the health system of the Tuscany Region and the response implemented by the South-Eastern Local Health Unit, also in view of the new reform of territorial healthcare established by Ministerial Decree No. 77 of 2022.
View Article and Find Full Text PDFIntroduction: Cyclic vomiting syndrome (CVS) is a disorder of gut-brain interaction of unknown origin. The aim of this study was to evaluate the global prevalence of this disorder and its associated factors.
Methods: Data were collected from nationwide Internet surveys in 26 countries, with subjects evenly distributed by age, sex, and country.
Article Synopsis
- Coenzyme A (CoA) is super important for our cells because it helps make and break down energy sources in our bodies.
- Problems with CoA can cause rare genetic diseases, like CoPAN and PCH 12, that are really serious and affect brain development.
- Scientists created a special mouse model to study how CoA issues affect the brain, finding that it leads to different problems, like bad behavior and brain growth issues.
Article Synopsis
- A low FODMAP diet is an effective treatment for irritable bowel syndrome (IBS), and a starch- and sucrose-reduced diet (SSRD) shows similar results, making it worth comparing.
- In a study with 155 IBS patients, both diets were tested for a 4-week period, measuring various health indicators including gastrointestinal symptoms and weight changes.
- Both diets had high responder rates indicating improvement, but SSRD participants experienced more significant weight and BMI reductions, although these changes were not maintained at the 5-month follow-up.
While COVID-19's urgency has diminished since its emergence in late 2019, it remains a significant public health challenge. Recent research reveals that the molecular intricacies of this virus are far more complex than initially understood, with numerous post-translational modifications leading to diverse proteoforms and viral particle heterogeneity. Mass spectrometry-based proteomics of patient serum/plasma emerges as a promising complementary approach to traditional diagnostic methods, offering insights into SARS-CoV-2 protein dynamics and enhancing understanding of the disease and its long-term consequences.
View Article and Find Full Text PDFBackground: Biological therapies, such as mepolizumab, have transformed the treatment of severe eosinophilic asthma. Although mepolizumab's short-term effectiveness is established, there is limited evidence on its ability to achieve long-term clinical remission.
Objective: To evaluate the long-term effectiveness and safety of mepolizumab, explore its potential to induce clinical and sustained remission, and identify baseline factors associated with the likelihood of achieving remission over 24 months.
Constipation is associated with an increased risk of major adverse cardiac events in a UK population.
Am J Physiol Heart Circ Physiol
October 2024
Article Synopsis
- Traditional cardiovascular risk factors like hypertension don’t fully explain the occurrence of major adverse cardiac events (MACEs), indicating the need to explore additional risk factors.
- The study investigates the link between constipation and MACE using data from the UK Biobank, revealing that individuals with constipation have a significantly higher risk of developing conditions like heart failure, ischemic stroke, and acute coronary syndrome.
- Positive genetic correlations were found between constipation and these MACE subgroups, suggesting that constipation may be an underestimated risk factor for cardiovascular diseases, prompting the need for more research into its implications and underlying mechanisms.
Lung diseases affect pulmonary and respiratory function and are caused by bacterial viral and fungal infection as well as environmental factors. Unfortunately, symptom overlap between various pulmonary diseases often prevents clear differentiation and uncertain diagnosis. Accordingly, identification of specific markers of inflammatory activity in early disease stage could potential unveil the intrinsic molecular mechanisms of the underlying pathology.
View Article and Find Full Text PDFThe problem of artifacts in whole slide image acquisition, prevalent in both clinical workflows and research-oriented settings, necessitates human intervention and re-scanning. Overcoming this challenge requires developing quality control algorithms, that are hindered by the limited availability of relevant annotated data in histopathology. The manual annotation of ground-truth for artifact detection methods is expensive and time-consuming.
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- Aortic regurgitation (AR) in people with a bicuspid valve (BAV) can be tricky to diagnose because the way blood flows can look different and make measurements hard to judge.
- Traditional methods like echocardiography aren't always helpful for these patients.
- Using a mix of different imaging techniques, like ultrasound, MRI, and CT scans, can help doctors better understand AR and decide if someone needs a valve replacement.
Article Synopsis
- Faecal biomarkers are significant for assessing inflammatory bowel disease (IBD), with the study focusing on their role in diagnosing and predicting disease progression.
- The study included 65 Crohn's disease patients, 90 ulcerative colitis patients, symptomatic controls, and healthy controls, analyzing various biomarkers in faecal samples.
- Key findings showed that calprotectin and myeloperoxidase were the most accurate in distinguishing IBD from other groups, and their levels could predict an aggressive disease course, especially with myeloperoxidase showing the strongest association.
The collection and preservation of biological material before DNA analysis is critical for inter alia biomedical research, medical diagnostics, forensics and biodiversity conservation. In this study, we evaluate an in-house formulated buffer called the Forensic DNA Laboratory-buffer (FDL-buffer) for preservation of biological material for long term at room temperature. Human saliva stored in the buffer for 8 years, human blood stored for 3 years and delicate animal tissues from the jellyfish comb jelly sp.
View Article and Find Full Text PDFBackground And Objective: Several randomized controlled trials (RCTs) have shown that benralizumab is characterized by a good profile of efficacy and safety, thereby being potentially able to elicit clinical remission on-treatment of severe eosinophilic asthma (SEA). The main goal of this multicentre observational study was to verify the effectiveness of benralizumab in inducing a sustained remission on-treatment of SEA in patients with or without comorbid chronic rhinosinusitis with nasal polyps (CRSwNP).
Methods: Throughout 2 years of treatment with benralizumab, a four-component evaluation of sustained remission of SEA was performed, including the assessment of SEA exacerbations, use of oral corticosteroids (OCSs), symptom control and lung function.
Improved biomarkers are needed for pediatric inflammatory bowel disease. Here we identify a diagnostic lipidomic signature for pediatric inflammatory bowel disease by analyzing blood samples from a discovery cohort of incident treatment-naïve pediatric patients and validating findings in an independent inception cohort. The lipidomic signature comprising of only lactosyl ceramide (d18:1/16:0) and phosphatidylcholine (18:0p/22:6) improves the diagnostic prediction compared with high-sensitivity C-reactive protein.
View Article and Find Full Text PDFObjective: COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). We aimed to expand the phenotypic spectrum and gain insights into the pathogenesis of COASY-related disorders.
Methods: Patients were identified through targeted or exome sequencing.