Search Results (116)

T1D and CD commonly occur together. This association has received increasing attention from researchers and is considered in detail in this review. Since CD is over-represented in T1D, it may cause ill health with attendant complications, but because there is an effective dietary treatment, screening has been recommended in children and adults. However, there are many unknowns regarding this association, and understanding the why, when, and how with regard to screening and managing those with dual diagnoses requires thorough consideration when introducing the concept of screening to patients. It is important that patients and, where appropriate, carers are put at the heart of the decision-making process with careful discussion of the issues involved before undertaking screening that might uncover a second life-changing diagnosis, for which, without preparatory preparation and support, individuals may be ill-prepared, causing mental health issues. For some patients, an initial policy of monitoring rather than moving to immediate small bowel biopsy and exposure to a gluten-free diet (GFD) will be appropriate. The correct management of patients will ultimately improve their quality of life medically and socially. Full article

Background/Objectives: Portal hypertension (PH) is a common complication in children with chronic liver diseases. Primary and secondary prophylaxis of variceal bleeding in these patients remains controversial. Our study aims to evaluate the management of gastrointestinal (GI) varices in children with PH in Italy. Methods: A questionnaire was sent to 21 major pediatric hepatology centers. It included 34 questions referring to the medical, endoscopic, radiological, and surgical management of GI varices. Results: Out of 21 centers, 16 returned a completed questionnaire (survey response rate 76%) with a high level of completeness. A total of 1206 children with PH were under follow-up. Splenomegaly associated with hypersplenism was the main indication for endoscopic surveillance in all centers (100%). Primary prophylaxis was performed with endoscopy plus non-selective beta-blockers (NSBBs) in 50%, endoscopy alone in 38%, and NSBBs alone in 12%. All centers managed acute variceal bleeding with endoscopy within 24 h, acid suppression, and octreotide infusion. Secondary prophylaxis of variceal bleeding was conducted using endoscopy (100%) and NSBBs (87%). Transjugular intrahepatic portosystemic shunt (TIPS) was considered a good option when endoscopic treatment failed in 94% of centers. Conclusions: In Italy, there is broad consensus among centers regarding the management of gastrointestinal varices in children with portal hypertension. All participating centers endorsed the use of endoscopic screening for children presenting with clinical signs of portal hypertension. Nonetheless, further research is essential to establish evidence-based guidelines and to improve overall quality of care. Full article

Background/Objectives: Preterm infants are at high risk of extrauterine growth restriction and suboptimal neurological development due to cumulative nutrient deficits. Standard fortification (SF) of human milk does not account for individual macronutrient variability, potentially leading to inadequate intake. Target fortification (TFO) adjusts supplementation based on the measured macronutrient content, aimed at providing macronutrient intake aligned with ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition) recommendations and optimize growth and development. This study aims to evaluate the effects of TFO compared to SF on growth, body composition, and neurological outcomes at 18 months corrected age. Methods: In this double-blind, randomized controlled trial, preterm infants (<30 weeks gestation) received either SF or TFO for at least three weeks. Macronutrient levels in breast milk were analyzed three times per week, with modular adjustments in the TFO group. Growth parameters, body composition at 36 weeks postmenstrual age, and Bayley Scales of Infant and Toddler Development III (BSID-III) scores at 18 months corrected age were assessed (n = 69). Results: TFO significantly increased protein, fat, and carbohydrate intake compared to SF, leading to higher weight gain (2514 ± 289 g vs. 2283 ± 332 g, p < 0.01) and growth velocity (21.7 ± 2.3 g/kg/d vs. 19.2 ± 2.2 g/kg/d, p < 0.001). In infants whose mother’s milk had low protein levels, fat-free mass was significantly higher with TFO compared to SF. BSID-III scores were higher in the TFO group across cognitive, language, and motor domains, with significant improvements in expressive language scores in infants whose mother’s milk had high protein levels (p < 0.05). The number of preterm infants with a motor BSID-III score of ≤70 was significantly lower in the TFO group compared to the SF group (0 vs. 3, p < 0.05). Conclusions: TFO enhanced growth and body composition and may support better neurological outcomes in preterm infants. While most BSID-III differences were not statistically significant, the data suggest that TFO may reduce the risk of developmental delays. Larger, multicenter trials are needed to confirm these findings. Full article

Theoretical background: The study of psychological well-being in children and adolescents living with chronic illness is of particular relevance, as the physical and psychosocial aspects of the illness can have a significant impact on their quality of life. Previous research has highlighted that depression, nonproductive thoughts and various aspects of problematic internet use may be related to life satisfaction and ways of coping with illness. This study aims to examine how depression, nonproductive thoughts, and problematic internet use interact with illness perception and burden to affect psychological well-being and life satisfaction. Methods: A cross-sectional study was conducted with 207 chronically ill children aged 10–18 years. The children, aged between 10 and 18 years old, attended regular check-ups in different specialities (gastroenterology, pulmonology, onco-haematology, and paediatric rehabilitation). A cross-sectional study was carried out using psychological instruments to measure life satisfaction (SWLS), nonproductive thoughts (NPG-K), problematic internet use (PIU-Q), illness perception (PRISM) and illness burden (PRISM-D, IIRS), and depression (BDI-R). Spearman rank correlation analysis was used to explore the associations between variables. Results: Life satisfaction was negatively related to nonproductive thoughts (r = −0.28, p < 0.001), internet obsession (r = −0.20, p < 0.01), and internet neglect (r = −0.20, p = 0.004). Conversely, a positive correlation was found with the PRISM (r = 0.14, p = 0.042), suggesting that less dominance of illness detection is associated with higher life satisfaction. Depression and nonproductive thoughts showed a strong positive relationship (r = 0.49, p < 0.001), and depression and problematic internet use also showed significant correlations for the obsession, neglect and control subscales (r = 0.23–0.29, all p < 0.001). Cluster analysis identified three psychological profiles: ‘positive fighters’, ‘avoidant sufferers’, and ‘negative observers’, distinguished by differences in depression, nonproductive thoughts, illness burden, and well-being. Conclusions: The results suggest that the quality of life of children and adolescents with chronic illness is significantly affected by mental health factors, particularly depression, nonproductive thoughts and problematic internet use. Illness perception and illness-related distress also play a key role in shaping life satisfaction and overall psychosocial well-being. These findings underscore the need for targeted psychological interventions in pediatric chronic care to enhance well-being and promote adaptive coping and suggest that psychological interventions and targeted psychosocial support can significantly improve these children’s quality of life. Further research is needed to explore intervention options and to develop optimal support strategies. Full article

Background: Individuals with inflammatory bowel diseases (IBDs) have an increased risk of developing psychiatric co-morbidities, including restrictive eating disorders (REDs), with which they share common pathogenic mechanisms, including gut–brain axis dysregulation. We conducted a case–control study systematically exploring the psychopathological profiles and alexithymia in adolescents with IBDs compared with a clinical group of adolescents diagnosed with REDs in order to test the hypothesis of common psychological characteristics between the two patient populations. Methods: We recruited 76 patients with IBDs and 76 age-matched controls with REDs (64 adolescents with anorexia nervosa and 12 adolescents with avoidant/restrictive food intake disorder). All participants completed a validated psychometric battery assessing psychological symptoms (SCL-90-R), ED features (EDI-3), and alexithymia (TAS-20). Comprehensive socio-demographic and clinical data were extracted from the medical records. Results: A total of 12 patients with IBDs (15.8%) scored higher than the cut-off (>70th percentile) on the EDI-3 scale for Eating Disorder Risk (EDI-EDRC), with a psychological profile comparable to RED patients. Female gender (OR = 0.133, p = 0.020) and longer disease duration (OR = 1.055, p = 0.036) were identified as significant risk factors for the development of EDs. Conclusions: Our findings suggest common psychological traits between patients with REDs and patients with IBDs at risk of developing EDs during adolescence, highlighting the need for early screening for EDs in patients with IBDs who present with specific socio-demographic and disease characteristics. Full article

Background: The COVID-19 pandemic has been associated with rising obesity rates. Autistic children have a higher risk of obesity than neurotypical children. Our study aims to describe the changes in overweight/obesity rates in autistic children during the pandemic, and to identify contributing factors. Methods: This is a retrospective case record review of patients with a clinical diagnosis of autism, who were seen at a developmental-behavioral pediatrics clinic in a tertiary academic hospital, between 1 January 2019 and 24 October 2021. We compared the average monthly rates of overweight/obese status pre- and during the pandemic. We collected data on the patients’ and parents’ demographics, duration of screen time per day, degree of difficulties related to autism symptoms and cognition. We analyzed factors associated with being overweight/obese during the pandemic. Results: 1330 patient visits were included. The mean age was 45.4 months; 78% were male; 52% were Chinese. The average monthly rate of overweight/obese status increased by 1.8% during the pandemic (17.9% pre-pandemic; 19.7% during pandemic). Factors associated with being overweight/obese during the pandemic included: Malay ethnicity (OR 2.321, p < 0.01), developmental delay (OR 2.80, p < 0.01), and lower parental education level (father OR 1.73, p = 0.01; mother OR 1.63, p = 0.03). On multivariate analysis, only Malay ethnicity (OR 2.95, p = 0.01) was significant. Conclusions: Our study demonstrates a rising overweight/obesity rate amongst children with autism spectrum disorder during the pandemic. It also identified higher-risk patient profiles (Malay race, developmental delay, lower parental education). We hope this will facilitate the implementation of preventative health measures specifically supporting the high-risk children. Full article

Monitoring infliximab (IFX) concentrations is crucial for optimizing IFX therapy in children with inflammatory bowel diseases (IBDs) who show low response rates due to inadequate drug exposure. Substantial variation occurs in IFX trough concentrations in paediatric patients. Objectives: This study aimed to investigate IFX pharmacokinetics (PK) in children with IBD during both the induction phase and maintenance phases and to identify covariates associated with IFX PK. Methods: This single-centre retrospective cohort study was conducted at an academic children’s hospital. Data was extracted from paediatric IBD patients receiving IFX between January 2018 and October 2023 and included demographic-, clinical- and laboratory parameters collected from electronic health records. Linear mixed model analysis was performed to investigate associations between these parameters and IFX trough concentrations. Target attainment [≥15 μg/mL in induction or 5–10 μg/mL in maintenance phase] of the IFX dosing regimens was evaluated. Results and Conclusions: A total of 115 children (417 unique IFX concentrations) were included. Multivariate analysis revealed significant positive associations between IFX and albumin concentrations (β = 0.388, p = 0.010) and IFX concentrations with dose (β = 6.534, p < 0.001), and an inversion association between IFX concentrations and treatment phase (β = −4.922, p < 0.001). During the induction and maintenance phases, 57.2% and 30.6% of IFX concentrations were subtherapeutic, respectively. A systematic search of studies investigating factors influencing IFX concentrations was concurrently performed. Our findings were critically compared against existing literature to assess relevant clinical and biochemical determinants of IFX PK in children with IBD. Our findings highlight the need for personalized dosing strategies in pediatric IBD patients, particularly during the induction phase. By implementing therapeutic drug monitoring (TDM) and considering clinical and biochemical factors, clinicians can implement more personalized strategies, potentially improving treatment efficacy and reducing the risk of treatment failure or adverse effects. This approach could lead to better target attainment, potentially enhancing clinical outcomes and minimizing premature switching to other therapies. Full article

Objectives: Pneumatosis intestinalis (PI) is rare in childhood. The aetiology remains poorly understood. Our aim was to assess its associated risk factors and outcome. Methods: Retrospective data collection of all children (>1 month of age) with radiological evidence of PI identified from 1991 to 2021 in a large children’s hospital. Poor outcome was defined as loss of enteral autonomy, or death within one month of PI diagnosis. Results: A total of 31 patients (21 male, 67.7%) were included, with a median age of 5 years. The underlying diagnosis was heterogenous. Cerebral palsy and acute lymphocytic leukaemia (ALL) were most common (5/31 for each, 16.13%). A share of 12/31 (38.7%) developed PI 2–15 months post-bone marrow transplantation (BMT). Most patients (n = 15, 48.4%) had no pre-existing gastroenterological disorder. In the majority (11/31, 35.5%), PI was an incidental finding. Abdominal pain was the most common presentation in symptomatic children (7/31, 22.6%). All (31/31, 100%) were managed conservatively with gut rest and antibiotics, and 6/31 (19.4%) had a poor outcome (1/31 permanent feeding intolerance, 5/31 died). When comparing patients who did well (group 1) to those with a poor outcome (group 2), worse prognosis was associated with a lower platelet count (p = 0.016), raised CRP (p = 0.008), higher creatinine (p = 0.006), and higher urea (p = 0.013). Conclusions: The overall prognosis of PI in childhood is good but associated with significant morbidity and mortality in a small number of patients. Our data suggest that lower platelet count, and higher urea, creatinine, and CRP levels might be risk factors. Full article

Background: Celiac disease (CD) is a chronic, permanent, gluten-dependent disease that manifests itself with inflammation of the small intestine and malabsorption in genetically predisposed individuals with HLA-DQ2 and -DQ8 (human leukocyte antigen) histocompatibility antigens. Objective: The diagnostic criteria for celiac disease have undergone numerous modifications over the years. The aim of the study is to evaluate the frequency of HLA-DQ2/DQ8 genes in a group of patients with celiac disease diagnosed in 1980–2010 in order to verify the primary diagnosis of CD. Methods: The study group included 50 patients, 13 men and 37 women, who had been diagnosed with celiac disease many years ago based on histopathological criteria and improvement of health condition after receiving a gluten-free diet. The control group consisted of 31 healthy volunteers, 18 women and 13 men. All subjects underwent a genetic analysis assessing the presence of histocompatibility antigens HLA-DQ2.2, -DQ2.5, and -DQ8, along with the assessment of alleles encoding the α and β subunits of the antigens, according to European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines from 2020, using the EUROarray technique at EUROIMMUNE^®. Results: In the study group, 12 (24%) patients did not meet the genetic criteria. Among the remaining patients (Group 1) with celiac disease, the presence of HLA-DQ2.5 (50.0% vs. 9.68%; p < 0.01) and the co-occurrence of both alleles of HLA-DQ2 (31.6% vs. 6.45%; p < 0.05) were detected significantly more frequently than in the control group. Among patients with celiac disease, the prevalence of HLA-DQ8 was also slightly more frequent (13.2% vs. 3.23%; p > 0.05). Patients who did not meet the genetic criteria for celiac disease (Group 2) had a single string α-HLA-DQ2.5 significantly more often than control subjects (66.67% vs. 38.71%; p < 0.05). Conclusions: Among patients with celiac disease diagnosed before 2010, based on the 2020 ESPGHAN criteria, it is advisable to verify the previous diagnosis, taking into account genetic criteria. Full article

Inflammation is the critical component of neuropathic pain; therefore, this study aimed to assess the potential anti-inflammatory effects of Cannabis sativa L. extracts in a vincristine-induced model of neuropathic pain. The effects of different doses (5.0–40.0 mg/kg) of two Cannabis sativa L. extracts (B and D) on COX-1, COX-2, TNF-α, and NF-κB mRNA and protein levels were examined in the rat hippocampus, cerebral cortex, and blood lymphocytes. There were statistically significant differences in COX-1, COX-2, and TNF-α mRNA and protein expression in the hippocampus and cerebral cortex, with significant differences in COX-2 and TNF-α in the lymphocytes. Extract D dose-dependently increased COX-1 mRNA and protein in the hippocampus and cortex. In contrast, Extract B dose-dependently increased COX-1 mRNA and decreased COX-2 mRNA (in a dose of 7.5 mg/kg) and TNF-α protein levels in the cortex. Cannabis sativa L. extracts significantly influenced the expression of inflammatory genes and proteins, with effects varying based on dose and tissue type. The increased expression of COX-1, COX-2, and TNF-α (in comparison to groups receiving NaCl, vincristine, and gabapentin) in the rat hippocampus and COX-1 in the cerebral cortex suggests that Cannabis may have a pro-inflammatory effect. Due to species specificity, the results of our research based on rats require confirmation in humans. However, Cannabis sativa should be recommended with caution for treating pain with an inflammatory component. Full article

Background: This study evaluated the long-term effectiveness and safety of a multidisciplinary early proactive therapeutic drug monitoring (TDM) program combined with Bayesian forecasting for infliximab (IFX) dose adjustment in a real-world dataset of paediatric patients with inflammatory bowel disease (IBD). Methods: A descriptive, ambispective, single-centre study of paediatric patients with IBD who underwent IFX serum concentration measurements between September 2015 and September 2023. The patients received reactive TDM before September 2019 (n = 17) and proactive TDM thereafter (n = 21). We analysed for clinical, biological, and endoscopic remission; treatment failure; hospitalisations; emergency visits; and adverse drug reactions. The IFX doses were adjusted to maintain trough concentrations ≥ 5 µg/mL, with specific targets for proactive TDM. Results: Of the 38 patients, 21 had Crohn’s disease (CD), 16 ulcerative colitis (UC), and 1 undetermined IBD. The mean (standard deviation) IFX trough concentrations were 6.83 (5.66) µg/mL (reactive) and 12.38 (9.24) µg/mL (proactive) (p = 0.08). No statistically significant differences between groups were found in remission rates or treatment failure. The proactive group had fewer hospitalisations (14.29% vs. 23.53%; p = 0.47) and shorter median hospitalisation days (6 vs. 19; p = 0.50), although the difference was not statistically significant. The number of patients with adverse reactions (infusion related reactions and infections) was higher in the proactive group (38.10% vs. 23.53%; p = 0.34) but the difference was not significantly different. Conclusions: Proactive TDM showed no significant differences in treatment outcomes compared to reactive TDM. However, the results in both the reactive and proactive TDM groups were not worse than those reported in other studies. Further studies with larger samples are needed to optimize the treatment strategies for pediatric IBD patients. Full article

Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to severe course of the disease (fetal hydrocephalus, neonatal hyperbilirubinemia, severe anemia). We reviewed 37 cases of patients with hexokinase deficiency described so far, focusing on the severity of the disease, clinical presentation, treatment applied, and genetic test results. Methods: We present a 10-year-old girl who initially presented with symptoms of weakness, excessive fatigue, and yellowing of the skin and sclerae. Genetic testing detected the (TA)7 variant in both alleles of the UGT1A1 gene and diagnosed Gilbert’s disease. In the follow-up, red cell hemolysis was observed. The diagnosis was extended, and tests for red cell enzymopathy were performed and a reduced level of hexokinase—0.65 IU/gHb (normal 0.78–1.57) was found. Next-generation sequencing revealed a new sense-change variant in exon 7 in the hexokinase gene not previously reported in databases. Results: Up to this date, only around 37 cases of hexokinase deficiency associated with hereditary nonspherocytic hemolytic anemia have been documented around the world. Diagnosing hexokinase deficiency involves clinical evaluation, laboratory testing, and genetic analysis. Management focuses on treating symptoms and preventing complications; there is no cure for the underlying enzyme deficiency. In patients with severe anemia, the treatment is multiple blood transfusions followed by iron chelation therapy. Conclusions: Understanding and diagnosing hexokinase deficiency is critical for providing appropriate care and improving the quality of life for affected individuals. Full article

Coeliac disease (CD) affects almost of 1% of the population, yet remains undiagnosed in the majority. Though the demonstration of enteropathy in duodenal biopsy was traditionally the essential criterion for the diagnosis of coeliac disease, the guidelines published by the European Society of Paediatric Gastroenterology and Nutrition (ESPGHAN) in 2012, and revised in 2020, paved the way to a no-biopsy approach to diagnosis. In a select group of children meeting certain criteria, a definitive diagnosis of CD can now be made without the need for duodenal biopsies. This is being increasingly applied in clinical practice. It is well established that untreated coeliac disease is associated with several chronic adverse health conditions. At present, a strict gluten-free diet remains the only effective treatment for CD. The advances in our understanding of the pathogenesis of CD have led to a search for alternative treatment agents. Several investigational agents are in various phases of clinical trials at present. In this review, we outline the clinical aspects of coeliac disease and summarise various investigational treatment agents. Full article

Background: The Crohn’s Disease Exclusion Diet (CDED) is a whole-foods regimen that has demonstrated efficacy in inducing remission among children and adults with mild-to-moderate disease. While initial studies predominantly originated from Israel, recent years have witnessed the expansion of experiences to diverse cultures, culminating in the recognition of CDED in the latest ESPEN guidelines. However, implementing dietary therapy poses significant challenges across various cultures, necessitating adaptations. Aim and Methods: This case-based study aims to present the collective experience from different cultures, shedding light on the encountered challenges and the corresponding solutions devised to surmount them by convening healthcare providers (dietitians and physicians across six countries and eight cultural settings) with extensive experience in utilizing the CDED. Results and Conclusions: Our findings underscore the efficacy of CDED across diverse cultural contexts and emphasize the pivotal role of dietitians in tailoring the diet to accommodate patients’ cultural behaviors and traditions. We highlight challenges encountered and delineate strategies for overcoming them by customizing the diet and offering tailored guidance. Additionally, we provide insights into implementing CDED in various regions through adjusted recipes and personalized counseling from dietitians. This study contributes to the growing body of literature on CDED, and offers practical guidance for its effective adoption in diverse cultural settings. Full article

Management of ulcerative colitis and Crohn’s disease, the main subtypes of inflammatory bowel disease (IBD), focuses on the induction and maintenance of remission. Tacrolimus, a member of a group of drugs termed calcineurin inhibitors, may have a role in the medical management of IBD when given either systemically or topically. This review aimed to evaluate the available data focusing on the use of topical tacrolimus in the management of IBD. Reports of the use of topical tacrolimus in IBD were extracted from databases up to 31 May 2024. Topical tacrolimus therapy appears to have reasonable efficacy in the induction and maintenance of remission in patients with refractory IBD, with an acceptable safety profile. Overall, the available data are supportive of the use of topical tacrolimus in selected patients. Further comparative clinical studies are required to more fully delineate the role of this drug. Full article