Background: Kawasaki disease (KD) is a systemic vasculitis of medium arteries, particularly involving coronary arteries. Coronary artery lesions (CALs) is the most serious complication in the acute stage, potentially leading to ischemic cardiomyopath...
Background: Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterized by cognitive, behavioral, and developmental impairments, frequently linked to structural genomic alterations. Copy number variants (CNVs) involving...
Background: The vaccination status of patients with inflammatory bowel disease (IBD) should be investigated before starting any treatment, and patients should eventually be vaccinated against vaccine-preventable diseases (VPDs). Patients with IBD may...
Background: Extra-virgin olive oil (EVOO) is the main source of seasoning fat in the Mediterranean diet and it is one of the components with known protective factors on chronic-degenerative disease. We aimed to evaluate the effect of a medium-high le...
Background and objectives: Huntington’s disease (HD) is characterized by motor, cognitive and psychiatric manifestations and caused by an expansion of CAG repeats over 35 triplets on the huntingtin (HTT) gene. However, expansions in the range 2...
Since involved in synaptic transmission and located on X-chromosome, neuroligins 3 and 4X have been studied as good positional and functional candidate genes for autism spectrum disorder pathogenesis, although contradictory results have been reported...
Unhealthy dietary habits established in early infancy may lead to under or over nutrition later in life. This paper describes the energy, nutrients and food-type intake of 18-month-old infants belonging to the Italian PHIME cohort (n = 389) and evalu...
Breast cancer (BC) is the most common cancer in women, with 2.3 million diagnoses in 2020. There is growing evidence that lifestyle factors, including dietary factors, particularly the complex interactions and synergies between different foods and nu...
21 January 2021
The present study aims to prospectively assess the influence of respiratory disorders on smoking cessation and re-initiation. Three population-based Italian cohorts answered a questionnaire on respiratory health and smoking habits during 1998–2...
Background: Dietary fats, and especially saturated fatty acid (SFA), have been blamed for being the culprit in the dramatic increase in obesity and its associated diseases. However multiple systematic reviews and recent meta-analyses do not support t...
Non-alcoholic fatty liver disease (NAFLD) is a potentially progressive condition characterized by the presence of fat in more than 5% of hepatocytes, representing the hepatic expression of metabolic syndrome (MetS). A reduction of at least 5–7%...
Background: Annual vaccination is the most effective way to combat influenza. As influenza viruses evolve, seasonal vaccines are updated annually. Within the European project Development of Robust and Innovative Vaccine Effectiveness (DRIVE), a cohor...
Background: Health assessment in custodial settings represents a core medico-legal function, particularly when clinical changes may influence detention compatibility and judicial decisions. Objective documentation of disease progression during incarc...
Abnormal sex hormone-binding globulin (SHBG) and sex hormone concentrations are the cause or the consequence of cardiometabolic diseases, however, the clinical correlates of SHBG is clearly less understood. In our study we investigate sex- and age-sp...
In recent decades, increasing attention has been paid to the influence of diet on reproductive health. Carbohydrates in diet affect glucose metabolism and multiple evidences showed the key role of insulin sensitivity in regulating female fertility. W...
Background & aims. A large proportion of deaths from SARS-CoV-2 infections worldwide occur among nursing home residents. The aim of this research is to study the association between age and comorbidities and the likelihood of hospitalization and...
30 May 2022
Post-COVID Syndrome (PCS) is characterized by physical, psychological and cognitive symptoms with a negative impact on daily activities. This study tested the responsiveness and construct validity of the original version of the COVID-19 Yorkshire Reh...
TANGO2-deficiency disorder (TDD) is a rare autosomal recessive condition characterised by neurodevelopmental delay, TANGO2 spells, life-threatening metabolic crises, and cardiac arrhythmias. Genotype–phenotype correlations remain poorly defined...
Background: The observed rise in non-communicable diseases may be attributed to the ongoing changes of urban environment and society, as well as greater awareness of health-related issues and subsequent higher rates of diagnosis, which all contribute...
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone photoreceptors. To determine the extent of progressive retinal changes in achromatopsia, we performed a detailed longitudinal phenotyping and genetic characterization o...
Background: Cancer represents a major concern in rheumatology. Epidemiological studies have demonstrated associations between rheumatic conditions and increased cancer risk at specific sites. However, comprehensive Italian epidemiological data on thi...
Objective: Nausea and vomiting in pregnancy (NVP) have a negative impact on quality of life and nutritional status and may progress to hyperemesis gravidarum (HG). We explored the incidence, severity, clinical evolution, and management of NVP. Method...
Background: Human immunodeficiency virus (HIV) infection can be associated with oral mucosal diseases, including oral candidiasis and HPV infection, which are putative indicators of the immune status. Aim and Methods: This retrospective cross-section...
Thiopurines are employed in inflammatory bowel diseases (IBDs; Crohn’s disease, CD; ulcerative colitis, UC) to induce remission, prevent relapse, and reduce the steroid dosage, although they can sometimes be ineffective and present side effects...
Tumor Necrosis Factor-alpha (TNFα) rs1800629 (-308G>A) is a single nucleotide polymorphism (SNP) related to variable responses to anti-TNFα therapy. This therapy is efficient in severe and refractory manifestation of Behçet synd...
Background: The aim of this study was to identify patient clusters based on acute symptom profiles and individual characteristics most likely to develop pediatric post-acute sequelae of SARS-CoV-2 infection (PASC), as well as clusters among patients...
Prenatal lead (Pb) and manganese (Mn) exposure can impair neurodevelopment, targeting the central nervous system. This study investigated the effects of prenatal exposure to Pb and Mn on neurodevelopment in children at 18 months of age, using data fr...
11 October 2016
The prevalence of obesity among Italian children has reached such alarming levels as to require detailed studies of the causes of the phenomenon. A cross-sectional study was carried out in order to assess the weight status of 1164 Italian children ag...
Background: Diet has been the major focus of attention as a leading risk factor for non-communicable diseases, including mental health disorders. A large body of literature supports the hypothesis that there is a bidirectional association between sle...
The incidence of cystic fibrosis (CF) and the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants differ among geographic regions. Differences in CF carrier distribution are also reported among Italian regions. We des...
This cohort study on the entire population of an Italian Province assessed the incidence of potentially vaccine-related serious adverse events (PVR-SAEs) by COVID-19 vaccination status. From January 2021 to July 2022, we extracted all deaths and hosp...
Background/Objectives: Ultrasound-guided carpal tunnel release (UGCTR) has emerged as a minimally invasive alternative to open surgery for the treatment of carpal tunnel syndrome (CTS). This study aimed to evaluate the clinical outcomes, complication...
Background: The occurrence of Behavioral and Psychological Symptoms of Dementia (BPSD) in Alzheimer’s Disease (AD) patients hampers the clinical management and exacerbates the burden for caregivers. The definition of the clinical distribution o...
28 January 2022
Aim: Few studies in the literature specifically address the hardiness of nurses during the COVID-19 pandemic. Thus, the primary aim of this study was to assess the impact of COVID-19 on the hardiness levels in an Italian cohort of nurses. The seconda...
Background and Objectives: Vitamin D is synthesized in the skin upon sunlight exposure, showing variations with season and latitude. We aimed to investigate the influence of age, sex, and season on vitamin D status in a large pediatric cohort during...
Advanced Glycation End Products (AGEs) have been positively correlated with inflammation in adults, while inconsistent evidence is available in children. We evaluated the association between urinary AGEs, measured by fluorescence spectroscopy, and bi...
In children, the factors that influence COVID-19 disease and its medium- and long-term effects are little known. Our investigation sought to evaluate the presence of comorbidity factors associated with respiratory long COVID manifestations in childre...
Caffeine intake, a frequent lifestyle exposure, has a number of biological effects. We designed a cohort study to investigate the relation between lifestyle and assisted reproduction technique (ART) outcomes. From September 2014 to December 2016, 339...
The low Fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) diet has demonstrated excellent results in terms of symptom control and health-related quality of life (HRQoL) in irritable bowel syndrome (IBS) sufferers, but...
Background: Tofacitinib (TOFA) was the first Janus kinase inhibitor (JAKi) to be approved for the treatment of rheumatoid arthritis (RA). However, data on the retention rate of TOFA therapy are still far from definitive. Objective: The goal of this s...
Introduction: A highly pathogenic human coronavirus able to induce severe acute respiratory syndrome (SARS) has been recently recognized as the cause of the coronavirus disease 2019 (COVID-19); the disease became pandemic after a few months. Little i...
Improper drug prescription is a main cause of both drug-related harms (inefficacy and toxicity) and ineffective spending and waste of the healthcare system’s resources. Nowadays, strategies to support an improved, informed prescription process...
Background: Individuals with severe disability require intensive and long-term healthcare, rehabilitation and social support. Updated population data are essential to inform planning and resource allocation. This study aimed to quantify—with a...
Introduction: The COVID-19 pandemic has had a considerable impact on the psychological and psychopathological status of the population and health care workers in terms of insomnia, anxiety, depression, and post-traumatic stress disorder. The primary...
Rationale and aim: Health literacy (HL) is pivotal for the successful self-management of chronic diseases. Little HL information is currently available in SSc patients; therefore, the present study aims at evaluating the HL levels in an Italian cohor...
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst...
12 May 2022
Despite long-term care (LTC) workers having been identified as particularly subject to chronic stress, only a few studies evaluated the impact of the COVID-19 pandemic on stress in this population. As far as the authors know, no studies have investig...
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven genes (TREX1, RNASEH2B, ...
Background: Dolutegravir (DTG) is recommended by international guidelines as a main component of an optimal initial regimen of cART (combination antiretroviral treatment) in people living with HIV (PLWH) and in case of switching for failure or optimi...
27 August 2022
The results of tuberculosis (TB) screening and reactivation in a cohort of 323 adult patients undergoing haematopoietic stem cell transplantation (HSCT) from 2015 to 2019 at the University Hospital of Tor Vergata, Rome, Italy, were reported. A total...
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