A5010867496- Down syndrome and intellectual disability research
- Immunodeficiency and Autoimmune Disorders
- SARS-CoV-2 and COVID-19 Research
- Infant Development and Preterm Care
- Viral gastroenteritis research and epidemiology
- Chronic Disease Management Strategies
- Diabetes and associated disorders
- Histiocytic Disorders and Treatments
- Genomics and Rare Diseases
- Frailty in Older Adults
- T-cell and B-cell Immunology
- Genetics and Neurodevelopmental Disorders
- Vaccine Coverage and Hesitancy
- Immune Cell Function and Interaction
- Autism Spectrum Disorder Research
- Celiac Disease Research and Management
- Pediatric health and respiratory diseases
- Diabetes Management and Research
- Food Allergy and Anaphylaxis Research
- Cardiovascular Function and Risk Factors
- Herpesvirus Infections and Treatments
- Endoplasmic Reticulum Stress and Disease
- Sleep and related disorders
- Eosinophilic Esophagitis
- Pneumonia and Respiratory Infections
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2024
Bambino Gesù Children's Hospital
2015-2024
Dalhousie University
2021
Sapienza University of Rome
2004
Alessandro Manzoni Hospital
2003
University of Vienna
2003
University of Pavia
1998
BackgroundHealth conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19.MethodsThe T21RS COVID-19 Initiative launched an international survey for clinicians or caregivers on patients DS. Data collected between April October 2020 (N=1046) were analysed compared UK ISARIC4C hospitalized without DS.FindingsThe mean age DS in was 29 years (SD = 18). Similar to general population, most frequent signs symptoms...
Memory B cells (MBCs) epitomize the adaptation of immune system to environment. We identify two MBC subsets in peripheral blood, CD27dull and CD27bright MBCs, whose frequency changes with age. Heavy chain variable region (VH) usage, somatic mutation replacement-to-silent ratio, CDR3 property changes, reflecting consecutive selection highly antigen-specific, low cross-reactive antibody variants, all demonstrate that MBCs represent sequential developmental stages, stringent antigen-driven...
Down syndrome (DS) is the most common chromosomal disorder and leading genetic cause of intellectual disability in humans, which results from triplication chromosome 21. To search for biomarkers early detection exploration disease mechanisms, here, we investigated protein expression signature peripheral blood mononuclear cells (PBMCs) DS children compared with healthy donors (HD) by using an in-depth label-free shotgun proteomics approach. Identified proteins are found associated metabolic...
Recurrent respiratory infections (RRIs) are a common clinical condition in children, fact about 25% of children under 1 year and 6% during the first 6 years life have RRIs. In most cases, occur with mild manifestations frequency episodes tends to decrease over time complete resolution by 12 age. However, RRIs significantly reduce child family quality lead significant medical social costs.Despite importance this condition, there is currently no agreed definition term literature, especially...
Children with Down syndrome (DS) have increased susceptibility to infections and a high frequency of leukemia autoimmune disorders, suggesting that immunodeficiency immune dysfunction are integral parts the syndrome. A reduction in B-cell numbers has been reported, associated moderate normal immunoglobulin levels. Here, we compared populations 19 children DS those healthy age-matched controls. We found all steps peripheral development altered DS, more severe defect during later stages...
Abstract Research to guide clinicians in the management of devastating regression which can affect adolescents and young adults with Down syndrome is limited. A multi‐site, international, longitudinal cohort individuals a clinical diagnosis Unexplained Regression (URDS) was collated through seven clinics. Tiered medical evaluation, 28‐item core symptom list, interim are described naturalistically. Improvement—defined by percentage baseline function on Parent‐reported Functional Score,...
We conducted a randomized trial to evaluate whether melphalan-prednisone (MPH-P) treatment administered just after diagnosis improves survival of stage I multiple myeloma (MM). Between January 1987 and March 1993, 145 consecutive previously untreated patients with MM were between MPH-P (administered for 4 days every 6 weeks) only at disease progression. Survival was not influenced by either or progression (64 vs 71 months respectively). Comparing the first second group odds ratio death is...
Around 65% of primary immunodeficiencies are antibody deficiencies. Functional tests useful tools to study B-cell functions in vitro. However, no accepted guidelines for performing and evaluating functional have been issued yet. Here, we report our experience on the infancy throughout childhood. We show that T-independent stimulation with CpG measures proliferation differentiation potential memory B cells. Switched cells respond better than IgM On other hand, CD40L, a T-dependent stimulus,...
Adults with Down Syndrome (DS) are at higher risk for severe outcomes of coronavirus disease 2019 (COVID-19) than the general population, but evidence is required to understand risks children DS, which necessary inform COVID-19 shielding advice and vaccination priorities. We aimed determine epidemiological clinical characteristics in DS. Using data from an international survey obtained a range countries control United States, we compared prevalence symptoms medical complications factors...
Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA Europe it is estimated a prevalence 60 million affected subjects, 75% whom in developmental age. A significant number newborns admitted Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although those genetic unknown. It is, then, common neonatologist to start diagnostic process suspicion disease or malformation syndrome, make...
Immunodeficiency is an integral aspect of Down syndrome, as demonstrated by the increased susceptibility to infection affected. Mortality still higher than in general population, with respiratory infections among major causes death. As more people syndrome are living today ever before, it indispensable develop strategies prevent and cure associated disorders. Vaccination most successful instrument preventive medicine. Special seasonal influenza pneumococcal vaccination have been designed for...
Children with Down Syndrome (DS) suffer from immune deficiency a severe reduction in switched memory B cells and poor response to vaccination. Chromosome 21 encodes two microRNAs (miRs), miR-125b miR-155, that regulate B-cell responses. We investigated the expression of miR-155 cell T subsets during activation DS. The frequency T-cell were analyzed tonsils HD studied sorted tonsillar after vitro PBMCs. blocked miRs using antagomiRs determined plasmablast formation vitro. found germinal...
ABSTRACT Background Health conditions and immune dysfunction associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19 once infected by SARS-CoV-2. Methods The T21RS Initiative launched an international survey for clinicians or caregivers/family members on patients DS (N=1046). De-identified data collected between April October 2020 were analysed compared UK ISARIC4C hospitalized without DS. from (ISARIC4C cases=100) matched to a random set controls=400) cases...
Abstract Introduction Intellectual disability, accelerated aging, and early‐onset Alzheimer‐like neurodegeneration are key brain pathological features of Down syndrome (DS). Although growing research aims at the identification molecular pathways underlying aging trajectory DS population, data on infants adolescents with missing. Methods Neuronal‐derived extracellular vesicles (nEVs) were isolated form healthy donors (HDs, n = 17) children (n 18) from 2 to 17 years age nEV content was...
Patients affected by Inflammatory Bowel Disease (IBD) present higher risk for infection and suboptimal response upon vaccination. The immunogenicity of SARS-CoV2 vaccination is still largely unknown in adolescents or young adults IBD (pIBD). We investigated the safety BNT162B2 mRNA COVID-19 vaccine 27 pIBD, as compared to 30 healthy controls (HC). Immunogenicity was measured anti-SARS-CoV2 IgG (anti-S anti-trim Ab) before vaccination, after 21 days (T21) 7 second dose (T28). profile close...
None.
We aimed to evaluate the safety and immunogenicity of BNT162b2 vaccine in young people with Down syndrome (DS), compare their humoral immune response those healthy controls (HC). Individuals DS HC received vaccine. Longitudinal blood samples were collected on day vaccination, twenty-one days after first dose, seven second six months dose. Both local systemic adverse events reported by participants mild. Pain at injection site was most event, while fever event. Humoral responses showed a...
Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individuals DS were analyzed to determine by reporting observed distributions biomarkers in overweight/obese throughout lifespan. Descriptive statistics regression analyses age categories determined distributive percentiles tested adiposity as predictor...