Publications by authors named "Auricchio R"

Background: In pediatric patients, celiac disease (CD) may influence the health-related quality of life (HRQoL).

Aims: The study aimed to assess HRQoL and further characterise the clinical factors associated with reduced HRQoL, in a large multicenter pediatric cohort with CD.

Methods: The disease-specific questionnaire CD Dutch Questionnaire (CDDUX) and the generic questionnaire Paediatric Quality of Life Inventory (PedsQL) were used to assess the HRQoL.

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Childhood nutrition plays an important role in the promotion of long-term health. Introducing solid foods in alignment with the Mediterranean Diet during weaning fosters a preference for healthy foods early in life. However, access to nutritious diets remains a challenge in underserved communities.

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  • Silver-Russell Syndrome (SRS) is a disorder that leads to growth failure, characteristic physical features, and feeding issues, with significant genetic causes remaining unclear in many cases.
  • The study aimed to assess the genetic variants in undiagnosed SRS patients and determine if (epi)genetic patients show distinct characteristics compared to genetic patients.
  • Findings revealed that only 9.1% of patients had identifiable pathogenic variants, emphasized body asymmetry as a key trait in (epi)genetic SRS, and recommended including IGF1R sequencing in the diagnostic process for SRS.
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Glycogen storage disease type Ia (GSDIa) is a rare, inherited glucose-6-phosphatase-α (G6Pase-α) deficiency-induced carbohydrate metabolism disorder. Although hyperlipidemia is a hallmark of GSDI, the extent of lipid metabolism disruption remains incompletely understood. Lipidomic analysis was performed to characterize the serum lipidome in patients with GSDIa, by including age- and sex-matched healthy controls and age-matched hypercholesterolemic controls.

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Potential celiac disease (PCD) is a clinical condition characterised by the presence of a positive CD-specific serology and a normal intestinal architecture. Asymptomatic PCD patients are generally advised to continue on a gluten-containing diet (GCD), but long-term risks of this approach have never been explored. In the present study, we aimed to investigate nutritional and autoimmune complications possibly developing overtime in a cohort of asymptomatic PCD children on a GCD.

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This position paper by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) Special Interest Group on Coeliac Disease (SIG-CD) presents an update to the 2016 recommendations concerning early diet and the risk of coeliac disease (CD). This update adheres to the policy that mandates reviewing guidelines every 5 years, particularly when new data emerge. The 2024 statements and recommendations are essentially similar to the 2016 recommendations.

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  • Familial hypercholesterolemia (FH) is characterized by high LDL-cholesterol levels and increased risk for cardiovascular diseases, with a potential polygenic basis in cases lacking identifiable genetic mutations.
  • In a study involving 418 patients suspected of having FH, next-generation sequencing was used to identify pathogenic variants in FH-related genes, revealing different LDL cholesterol levels and genetic score patterns between patients with (V+) and without (V-/USV-) these variants.
  • The research highlighted that the 12-SNP and 6-SNP polygenic scores can help explain hypercholesterolemia in patients without pathogenic variants, while also accounting for LDL-c variability among those with known FH-causing mutations.
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  • The study investigates the diagnostic delay experienced by pediatric patients with celiac disease across 13 referral centers in Italy, covering cases from 2010 to 2019 and analyzing data in 2023.
  • It finds that the median diagnostic delay for these patients is about 5 months, with a notable portion experiencing extreme delays of 11 months or more.
  • Factors such as age at diagnosis influence delays, with younger patients (under 3 years) generally facing shorter wait times for diagnosis.
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Celiac Disease (CD) is a T-cell mediated disorder caused by immune response to gluten, although the mechanisms underlying CD progression are still elusive. We analyzed immune cell composition, plasma cytokines, and gliadin-specific T-cell responses in patients with positive serology and normal intestinal mucosa (potential-CD) or villous atrophy (acute-CD), and after gluten-free diet (GFD). We found: an inflammatory signature and the presence of circulating gliadin-specific IFN-γ T cells in CD patients regardless of mucosal damage; an increased frequency of IL-10-secreting dendritic cells (DC-10) in the gut and of circulating gliadin-specific IL-10-secreting T cells in potential-CD; IL-10 inhibition increased IFN-γ secretion by gliadin-specific intestinal T cells from acute- and potential-CD.

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  • Celiac disease (CeD) traditionally presents with positive serology and flat villi in the duodenum, but this review focuses on two lesser-known forms: seronegative CeD and ultrashort CeD.
  • Seronegative CeD is identified by flat villi and positive HLA-DQ2/DQ8 without antibodies, diagnosable through clinical improvement on a gluten-free diet, while ultrashort CeD shows flat villi specifically in the duodenal bulb but not in the distal duodenum along with positive serology.
  • Current research on the prevalence and characteristics of these two phenotypes is limited, but new diagnostic methods like intestinal transglutaminase 2 assessment and flow cyt
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  • The study aimed to compare glucose control metrics in youths with type 1 diabetes (T1D) and celiac disease (CD) versus those with T1D alone, focusing on the impact of gluten-free diets (GFD) on metabolic control.
  • An observational study included 86 participants with both T1D and CD and 167 controls with T1D only, assessing dietary adherence and its effects using continuous glucose monitoring (CGM).
  • Results showed similar CGM metrics for both groups, but those not fully adhering to GFD had higher rates of hyperglycemia compared to T1D-only participants, emphasizing the importance of strict dietary compliance for metabolic control.
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Tolerogenic dendritic cells play a critical role in promoting antigen-specific tolerance via dampening of T cell responses, induction of pathogenic T cell exhaustion and antigen-specific regulatory T cells. Here we efficiently generate tolerogenic dendritic cells by genetic engineering of monocytes with lentiviral vectors co-encoding for immunodominant antigen-derived peptides and IL-10. These transduced dendritic cells (designated DC) secrete IL-10 and efficiently downregulate antigen-specific CD4 and CD8 T cell responses from healthy subjects and celiac disease patients in vitro.

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Celiac disease (CD) is an autoimmune disease with inflammatory characteristics, having a condition of chronic malabsorption, affecting approximately 1% of the population at any age. In recent years, a concrete correlation between eating disorders and CD has emerged. Hypothalamus plays a central role in determining eating behaviour, regulating appetite and, consequently, food intake.

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Immunological events that precede the development of villous atrophy in celiac disease (CeD) are still not completely understood. We aimed to explore CeD-associated antibody production (anti-native gliadin (AGA), anti-deamidated gliadin (DGP) and anti-tissue transglutaminase (anti-tTG)) in infants at genetic risk for CeD from the Italian cohorts of the PREVENT-CD and Neocel projects, as well as the relationship between antibody production and systemic inflammation. HLA DQ2 and/or DQ8 infants from families with a CeD case were followed from birth.

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Background: Functional gastrointestinal disorders (FGIDs) are common during the pediatric age. FGIDs are not related to biochemical or structural abnormalities. However, since they have a high prevalence, several studies have evaluated an overlap between FGIDs and organic diseases.

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Background: The effects of early feeding practices on the risk of coeliac disease (CD) remain debated.

Aims: To update evidence on these practices on the risk of CD and/or CD-related autoimmunity (CDA), defined as anti-transglutaminase or anti-endomysial antibody positivity METHODS: We searched MEDLINE, EMBASE and the Cochrane Library to May 2022 for randomised controlled trials (RCTs) and observational studies.

Results: We included 36 publications (30 studies).

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Considerable heterogeneity exists across studies assessing intestinal mucosal recovery in celiac (CD) patients on a gluten-free diet (GFD). We aimed at investigating histological and immunohistochemical features in CD patients on a long-term GFD and to correlate them to the GFD duration. Morphometrical and immunohistochemical analysis were retrospectively performed on duodenal biopsies in three groups of children: 33 on a long-term (>2 years) GFD (GFD-group), four of which remained seropositive despite dietary adherence, 31 with villous atrophy (ACD-group) and 76 heathy, non-celiac (CTR-group).

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Introduction: Coeliac disease and dermatitis herpetiformis are immune-mediated diseases triggered by the consumption of gluten in genetically predisposed individuals. These guidelines were developed to provide general practitioners, paediatricians, gastroenterologists, and other clinicians with an overview on the diagnosis, management and follow-up of coeliac patients and those with dermatitis herpetiformis.

Methods: Guidelines were developed by the Italian Societies of Gastroenterology.

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Celiac disease (CD) is an immune-mediated enteropathy triggered in genetically susceptible individuals by gluten-containing cereals. A central role in the pathogenesis of CD is played by the HLA-restricted gliadin-specific intestinal T cell response generated in a pro-inflammatory environment. The mechanisms that generate this pro-inflammatory environment in CD is now starting to be addressed.

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Objectives: To gather the current evidence and to offer recommendations for follow-up and management.

Methods: The Special Interest Group on Celiac Diseases of the European Society of Paediatric Gastroenterology Hepatology and Nutrition formulated ten questions considered to be essential for follow-up care. A literature search (January 2010-March 2020) was performed in PubMed or Medline.

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Background & Aims: Screening for celiac disease (CD) is recommended in children with affected first-degree relatives (FDR). However, the frequency of screening and at what age remain unknown. The aims of this study were to detect variables influencing the risk of CD development and develop and validate clinical prediction models to provide individualized screening advice.

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