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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. Clinical and sociodemographic characteristics were analyzed, univariate and multivariate analysis were conducted., Results: Eleven different Italian pediatric centers and 871 families were involved. Mean age at interview was 12.9 ± 2.9 years. The mean total CDDUX score of CD patients was 47.1 ± 18.8, revealing a neutral HRQoL (47.1 ± 18.8), and a good to very good HRQoL according to the PedsQL (81.4 ± 12.6), parents indicated lower scores (p = 0.03) with both questionnaires (CDDUX 45.1 ± 18.6 and PedsQL 79.9 ± 14.5). Patients with lower HRQoL were mainly female, living in Northern Italy, with lower parent's education level and non-biopsy diagnosis of CD. In multivariate analysis, the main predictor of lower CDDUX score was non-biopsy diagnosis., Conclusions: The HRQoL in a large cohort of Italian children is reported as neutral-good. This indicates a high level of adaptive behaviors in response to the daily challenges of CD. Parents tend to underestimate their children's HRQoL. Specific clinical factors, including non-biopsy diagnosis, may be associated to lower HRQoL., Competing Interests: Conflict of interest The authors declare the absence of any commercial or financial potential conflict of interest., (Copyright © 2025 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

Background : Celiac disease (CD) is the most common multisystemic autoimmune disorder affecting the pediatric population. However, little data is available regarding SARS-CoV-2 vaccination coverage in pediatric patients with CD. This study aims to evaluate the adherence to national recommendations for SARS-CoV-2 vaccination in children and adolescents with CD and its variation over time. Methods : We retrospectively analyzed medical charts and electronic registry records of SARS-CoV-2 vaccination of patients aged 0-19 years diagnosed with CD in a tertiary center. The vaccination coverage was evaluated according to age groups (young children, children, and adolescents), considering the patients' eligibility for vaccination at different times. Results : Among the 172 patients enrolled, 44.8% received at least one dose of the SARS-CoV-2 vaccine, showing no significant differences compared to the Italian population of similar age. Vaccination coverage demonstrated a progressive reduction after an initial peak (up to 65.5% in December 2021) concomitant with a gradual extension of vaccinable eligibility and falling SARS-CoV-2 infections. Histological diagnosis and the presence of other associated autoimmune diseases were associated with higher levels of adherence to vaccination. Conclusions : Adherence to the SARS-CoV-2 vaccination in young Italian children with CD was very low, while it was better in adolescents and patients with other associated autoimmune diseases. Vaccine hesitancy remains a concern, particularly among those diagnosed using the biopsy-sparing approach. Hesitancy increased during the pandemic period, suggesting the need for ongoing efforts to improve adherence to SARS-CoV-2 vaccination recommendations.

Objectives: While important progress was made regarding the treatment of systemic sclerosis (SSc), there is still no evidence-based disease-modifying treatment available for SSc-related gastrointestinal (GI) manifestations. We aimed to identify an association between immunosuppressive therapy and the the severity of GI symptoms, measured by the University of California at Los Angeles/Scleroderma Clinical Trial Consortium Gastro-Intestinal Tract instrument 2.0 (GIT)., Methods: We selected patients with SSc who had at least two visits (further referred to as 'baseline' and 'follow-up') with completed GITs, within an interval of 12±3 months. The study outcome was the GIT score at follow-up. We used multivariable linear regression with the following covariates: immunosuppressive therapy during observation, immunosuppressive therapy before baseline, baseline GIT and several baseline parameters selected by clinical judgement as potentially influencing GI symptoms., Results: We included 209 SSc patients (82.3% female, median age 59.0 years, median disease duration 6.0 years, 40 (19.1%) diffuse cutaneous SSc, median baseline GIT 0.19). Of these, 71 were exposed to immunosuppressive therapy during the observation period, and, compared with unexposed patients, had overall more severe SSc and a higher prevalence of treatment with proton pump inhibitors. In multivariable linear regression, immunosuppressive therapy during the period of observation and lower baseline GIT scores were significantly associated with lower (better) GIT scores at follow-up., Conclusion: Immunosuppressive treatment was associated with lower GIT scores in our cohort, which suggests the potential effects of immunosuppressants on GI manifestations in patients with SSc, requiring confirmation in prospective randomised clinical trials., Competing Interests: Competing interests: MB has received consultancy fees from GSK, Amgen, Novartis and Vifor. CB has received consultancy fees from Boehringer Ingelheim, grants/research support from Gruppo Italiano Lotta alla Sclerodermia (GILS), European Scleroderma Trials and Research Group (EUSTAR), Foundation for research in Rheumatology (FOREUM), Scleroderma Clinical Trials Consortium (SCTC), Scleroderma Research Foundation (SRF), EMDO foundation. Educational grants from AbbVie and Wellcome Trust, and congress support from Boehringer Ingelheim. RD has received speaker and/or consultancy fees from Actelion, Boehringer-Ingelheim; grant/research support from: Pfizer, Actelion, Iten-Kohaut; and congress participation support from Amgen and Otsuka. She also received the Walter and Sigrid Siegenthaler Fellowship. ME has received congress support from Janssen and Astra-Zeneca and research support from Novartis outside of the submitted work. She also received the Walter and Sigrid Siegenthaler Fellowship. SI has received a EULAR scientific long-term training grant for young fellows. OD has/had consultancy relationship with and/or has received research funding from and/or has served as a speaker for the following companies in the area of potential treatments for systemic sclerosis and its complications in the last three calendar years: 4P-Pharma, Abbvie, Acceleron, Alcimed, Altavant, Amgen, AnaMar, Argenx, Arxx, AstraZeneca, Blade, Bayer, Boehringer Ingelheim, Cantargia AB, Corbus, CSL Behring, Galderma, Galapagos, Glenmark, Gossamer, Horizon, Janssen, Kymera, Lupin, Medscape, Merck, Miltenyi Biotec, Mitsubishi Tanabe, Nkarta Inc., Novartis, Orion, Prometheus, Redxpharma, Roivant, EMD Serono, Topadur and UCB. Patent issued 'mir-29 for the treatment of systemic sclerosis' (US8247389, EP2331143). Cofounder of CITUS AG. CM received speaker and/or consultancy fees from Janssen-Cilag AG, Boehringer Ingelheim, MED Talks Switzerland, Medbase, Mepha, Novartis and PlayToKnow AG and travel support for congress from Boehringer Ingelheim., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Preterms are at risk of systemic infections as the barrier function of their immature skin is insufficient. The long period of hospitalization and the huge number of invasive procedures represent a risk factor for complications. Among the nosocomial infections of the skin, methicillin-resistant Staphylococcus aureus (MRSA) is associated with significant morbidity and mortality. We report a clinical case of cellulitis and abscess in two preterm twins caused by MRSA in a tertiary level Neonatal Intensive Care Unit (NICU)., Case Presentation: Two preterm female babies developed cellulitis from MRSA within the first month of extrauterine life. The first one (BW 990 g) showed signs of clinical instability 4 days before the detection of a hyperaemic and painful mass on the thorax. The second one (BW 1240 g) showed signs of clinical instability contextually to the detection of an erythematous, oedematous and painful area in the right submandibular space. In both cases the diagnosis of cellulitis was confirmed by ultrasound. A broad spectrum, multidrug antimicrobial therapy was administered till complete resolution., Conclusions: Due to the characteristic antibiotic resistance of MRSA and the potential complications of those infections in such delicate patients, basic prevention measures still represent the key to avoid the spreading of neonatal MRSA infections in NICUs, which include hand hygiene and strict precautions, as well as screening of patients for MRSA on admission and during hospital stay, routine prophylactic topical antibiotic of patients, enhanced environmental cleaning, cohorting and isolation of positive patients, barrier precautions, avoidance of ward crowding, and, in some units, surveillance, education and decolonization of healthcare workers and visiting parents., (© 2024. The Author(s).)

Importance: The extent and factors associated with risk of diagnostic delay in pediatric celiac disease (CD) are poorly understood., Objectives: To investigate the diagnostic delay of CD in childhood, and to assess factors associated with this delay., Design, Setting, and Participants: Multicenter, retrospective, cross-sectional study (2010-2019) of pediatric (aged 0-18 years) patients with CD from 13 pediatric tertiary referral centers in Italy. Data were analyzed from January to June 2023., Main Outcomes and Measures: The overall diagnostic delay (ie, the time lapse occurring from the first symptoms or clinical data indicative of CD and the definitive diagnosis), further split into preconsultation and postconsultation diagnostic delay, were described. Univariable and multivariable linear regression models for factors associated with diagnostic delay were fitted. Factors associated with extreme diagnostic delay (ie, 1.5 × 75th percentile) and misdiagnosis were assessed., Results: A total of 3171 patients with CD were included. The mean (SD) age was 6.2 (3.9) years; 2010 patients (63.4%) were female; and 10 patients (0.3%) were Asian, 41 (1.3%) were Northern African, and 3115 (98.3%) were White. The median (IQR) overall diagnostic delay was 5 (2-11) months, and preconsultation and postconsultation diagnostic delay were 2 (0-6) months and 1 (0-3) month, respectively. The median (IQR) extreme overall diagnostic delay (586 cases [18.5%]) was 11 (5-131) months, and the preconsultation and postconsultation delays were 6 (2-120) and 3 (1-131) months, respectively. Patients who had a first diagnosis when aged less than 3 years (650 patients [20.5%]) showed a shorter diagnostic delay, both overall (median [IQR], 4 [1-7] months for patients aged less than 3 years vs 5 [2-12] months for others) and postconsultation (median [IQR], 1 [0-2] month for patients aged less than 3 years vs 2 [0-4] months for others). A shorter delay was registered in male patients, both overall (median [IQR], 4 [1-10] months for male patients vs 5 [2-12] months for female patients) and preconsultation (median [IQR], 1 [0-6] month for male patients vs 2 [0-6] months for female patients). Family history of CD was associated with lower preconsultation delay (odds ratio [OR], 0.59; 95% CI, 0.47-0.74) and lower overall extreme diagnostic delay (OR, 0.75; 95% CI, 0.56-0.99). Neurological symptoms (78 patients [21.5%]; OR, 1.35; 95% CI, 1.03-1.78), gastroesophageal reflux (9 patients [28.1%]; OR, 1.87; 95% CI, 1.02-3.42), and failure to thrive (215 patients [22.6%]; OR, 1.62; 95% CI, 1.31-2.00) showed a more frequent extreme diagnostic delay. A previous misdiagnosis (124 patients [4.0%]) was more frequently associated with gastroesophageal reflux disease, diarrhea, bloating, abdominal pain, constipation, fatigue, osteopenia, and villous atrophy (Marsh 3 classification)., Conclusions and Relevance: In this cross-sectional study of pediatric CD, the diagnostic delay was rather short. Some factors associated with risk for longer diagnostic delay and misdiagnosis emerged, and these should be addressed in future studies.

Objectives: The aim of the study was to assess long-term health-related quality of life (HRQoL) in children and adolescents with coeliac disease (CD), and their parents., Methods: We re-evaluated prospectively the HRQoL and clinical characteristics of 80 families, assessed 5 years earlier, using a disease-specific questionnaire, the CD Dutch Questionnaire (CDDUX), and a generic questionnaire, the Paediatric Quality of Life Inventory (PedsQL)., Results: After a 10-year follow-up, there was no significant change in the total CDDUX and PedsQL scores in children and their parents when compared to the evaluation conducted 5 years earlier. The total CDDUX score reflected a neutral QoL, while for the generic PedsQL was good-very good. The only significant decrease after 5 years was the PedsQL subdomain Emotional functioning. Patients who admitted voluntarily eating gluten reported lower score in CDDUX Diet. Lower scores in subdomain "Physical functioning" (PedsQL) were reported in patients with positivity of TTG or associated diseases., Conclusions: The CDDUX score indicated a consistently stable and neutral QoL perception among coeliac patients and caregivers, even after 10-year postdiagnosis, suggesting minimal fluctuations in the impact of CD on disease-specific health domains over time. Furthermore, the consistently good PedsQL score could be a reflection of the resilience of coeliac families in coping with this chronic condition. Gluten-free diet compliance was confirmed to be determinant of HRQoL in the long term. The study confirms the importance of extending surveillance on these patients, possibly using different questionnaires, to assess QoL from different perspectives., (© 2023 European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Celiac disease (CD) is an immune-mediated systemic gluten-related disorder characterized by a wide spectrum of intestinal and extra-intestinal manifestations, including damage to cutaneous and connective tissue. We report a rare case of chronic severe dermatitis involving connective tissue and cutaneous vascular vessels as the main clinical presentation of undiagnosed seronegative gluten disorder. A gluten-free diet dramatically improved the intestinal and cutaneous clinical damage in the patient. Pitfalls and the steps of differential diagnosis are described. We also review the literature regarding studies of CD and connective tissue diseases to extend the knowledge of these rare associations. We propose a practical diagnostic approach in suspected CD in autoimmune cutaneous disorders.

Celiac disease (CD) has a high prevalence but remains largely underdiagnosed. Although extensive studies have confirmed that children with CD do not have an increased risk of severe COVID-19, public health regulations associated with the SARS-CoV-2 pandemic may have exacerbated this problem. The aim of this study was to assess the effect of SARS-CoV-2 on the number of new-onset CD cases. Additionally, the role of SARS-CoV-2 in autoimmune diseases and its influence on clinical practice in pediatric gastroenterology were briefly reviewed. We described the data from the hospital electronic registry of new-onset CD, during the COVID-19 pandemic and 2 years before. A total of 423 children were diagnosed with CD between March 2018 and February 2022: 228 in the 2-year pre-COVID-19 period and 195 during the pandemic. The number of patients during the COVID-19 pandemic was 14.5% lower than in the previous years. The quarterly comparison of CD diagnoses showed a reduction in all quarters. A reduction in diagnoses during the lockdown and in the following months was evident and not compensated thereafter. This is the first study to evaluate the impact of SARS-CoV-2 on the diagnosis of CD in children. Further studies are necessary to improve the system of biopsy-sparing diagnosis and to evaluate the effect of the diagnostic delay. Special attention should be given to the implementation of telemedicine services.

Background and Objectives: The University of California Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract Instrument 2.0 (UCLA GIT 2.0) is validated to capture gastrointestinal (GI) tract morbidity in patients with systemic sclerosis (SSc). The aims of this study were to determine in a large SSc cohort if the UCLA GIT 2.0 is able to discriminate patients for whom a rheumatologist with experience in SSc would recommend an esophago-gastro-duodenoscopy (EGD), and if it could identify patients with endoscopically proven esophagitis or with any pathologic finding on EGD., Methods: We selected patients fulfilling the ACR/EULAR 2013 criteria for SSc from our EUSTAR center having completed at least once the UCLA GIT 2.0 questionnaire, and we collected data on gastrointestinal symptoms and EGD from their medical charts. We analyzed by general linear mixed effect models several parameters, including UCLA GIT 2.0, considered as potentially associated with the indication of EGD, as well as with endoscopic esophagitis and any pathologic finding on EGD., Results: We identified 346 patients (82.7% female, median age 63 years, median disease duration 10 years, 23% diffuse cutaneous SSc) satisfying the inclusion criteria, who completed UCLA GIT 2.0 questionnaires at 940 visits. EGD was recommended at 169 visits. In multivariable analysis, UCLA GIT 2.0 and some of its subscales (reflux, distention/bloating, social functioning) were associated with the indication of EGD. In 177 EGD performed in 145 patients, neither the total ULCA GIT 2.0 score nor any of its subscales were associated with endoscopic esophagitis, nor with any pathologic EGD findings., Conclusions: In a real-life setting, the UCLA GIT 2.0 and its reflux subscale were able to discriminate patients with SSc who had an indication for EGD, but did not correlate with findings in EGD. We conclude that, while using the UCLA GIT 2.0 in the routine care of patients with SSc may help the rheumatologist to better understand the burden of GI symptoms in the individual patient, it should not be used as a stand-alone instrument to identify an indication of EGD.