Background: Celiac disease (CD) is a chronic immune-mediated systemic disorder induced by gluten in genetically predisposed individuals, requiring lifelong management through a strict gluten-free diet (GFD). Although its global prevalence is around 1%, awareness and diagnosis remain suboptimal, contributing to challenges in disease management. Objectives: To assess the awareness, knowledge, and experiences of Bulgarian CD patients and caregivers regarding CD, diagnosis, and dietary adherence. Methods: A structured survey was conducted to evaluate patient and caregiver knowledge, awareness, and experiences with CD, focusing on the diagnostic process and dietary practices. Data were collected from a sample of Bulgarian CD patients and their caregivers. Results: The majority of the 191 respondents (94%) recognized CD as a lifelong condition, but only 26.7% correctly identified its autoimmune, systemic nature. The average diagnostic delay was 8.1 months, with over 50% of patients relying on serological tests alone, consistent with recent non-biopsy guidelines. Dietary adherence was significantly hindered by misconceptions about gluten-containing grains and societal barriers. Notably, 83.6% of participants reported bringing their own food when eating outside. Conclusions: The findings underscore the need for targeted public health initiatives, enhanced healthcare provider training, and improved dietary education to address knowledge gaps, expedite diagnosis, and improve dietary adherence. Such interventions could help reduce the psychosocial burden of CD and enhance the quality of life for affected individuals.

Effects of carob-bean gum thickened formulas on infants’ reflux and tolerance indices

Introduction: Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form of intellectual disability and the leading monogenic cause of autism. Aim: To present our experience with selective screening for FXS among high-risk children with intellectual disability/developmental delay/autistic behaviour and to further prove the importance of performing selective screening in a high-risk population.Materials and methods: Fifty-two children (45 boys and 7 girls) hospitalized in pediatric clinics or referred to genetic counseling services were tested with triplet repeat primed PCR based commercial kit. The mean age of participants was 6 years (the youngest was 2 years old, the oldest - 15 years old). These patients were selected based on the presence of at least one of the following clinical features: developmental delay, intellectual disability, and autistic-like behaviour.Results: All patients presented with developmental delay, including language delay. Intellectual disability and autistic-like behaviour were the most consistent features. Thirty-three children (63.4%) were with intellectual disability. Autism and autistic-like behaviour were observed in 22 patients (42.3%). Only 9 male patients (17.3%) presented with dysmorphic features typical for FXS. Three boys (5.7%) were found to be affected and two of their mothers - premutation carriers. Conclusions: The present study is the first attempt for molecular genetic selective screening for FXS among high-risk groups in north-eastern Bulgaria. Screening for FXS helps in making a definitive diagnosis along with providing genetic counseling to the family which includes reproductive planning and risk assessment.

Introduction: Celiac disease (CD) impairs bone development in children through inflammation and nutrient malabsorption. Osteoprotegerin (OPG), a decoy receptor for RANKL, plays a role in bone remodeling and is increasingly recognized as a potential biomarker of bone metabolism and inflammation. However, its clinical significance in pediatric CD remains unclear. Aim: To evaluate the relationship between OPG levels, growth parameters, and delayed bone age in children with CD, and to assess OPG’s potential as a biomarker of bone health and disease activity. Methods: This three-year case–control study included 146 children: 25 with newly diagnosed CD (Group A), 54 with established CD on a gluten-free diet (Group B), and 67 healthy controls (Group C). Participants underwent clinical, anthropometric, and laboratory assessments at baseline and after 6 months (Groups A and B). OPG and osteocalcin were measured, and bone age was assessed radiologically. Statistical analyses included ANOVA, Spearman’s correlations, and binomial logistic regression. Results: OPG levels were highest in newly diagnosed children (Group A), showing a non-significant decrease after gluten-free diet initiation. OPG correlated negatively with age and height in CD patients and controls, and positively with hemoglobin and iron in Group B. Logistic regression revealed no significant predictive value of OPG for delayed bone age, although a trend was observed in Group B (p = 0.091). Children in long-term remission exhibited bone maturation patterns similar to healthy peers. Conclusions: OPG levels reflect disease activity and growth delay in pediatric CD but lack predictive power for delayed bone age. While OPG may serve as a secondary marker of bone turnover and inflammatory status, it is not suitable as a standalone biomarker for skeletal maturation. These findings highlight the need for integrative biomarker panels to guide bone health monitoring in children with CD.

Anorexia nervosa is an eating disorder with a multisystemic nature, affecting female adolescents predominantly. The disease is potentially fatal with cardiac complications being the leading cause. We present a clinical case of a 16-year-old girl with anorexia nervosa after a mental trauma, hospitalized in our Clinic in an extremely severe, pre comatose state with weight 26 kg, BSA – 1.12 m2 and BMI – 10.4. On the background of severe abnormalities in homeostasis, bradycardia with left ventricular extrasystoles in bigeminy and episodes of tachycardia with a frequency of 238/min. Echocardiography revealed reduce in the heart size and the left ventricular muscle mass, MI – I + degree and a small, apical pericardial effusion. During the echocardiographic follow-up, there was signifi cant hypertrophy of the left ventricle with obstruction in the outfl ow tract, with a reduction in ventricular size, without signifi cant change in left ventricular muscle mass. As a result of long-term, comprehensive treatment, with the participation of a team of specialists, the patient achieved true behavioural criticality, improved food tolerance, weight gain up to 46 kg with BMI - 18.4 and normalization of cardiac anatomy. Cardiac complications of anorexia nervosa are common, varied, and potentially lethal and require targeted cardiac monitoring and treatment. Left ventricular hypertrophy with obstruction in the ventricular outfl ow tract, fi rst described in 2006, is a rare but potentially fatal cardiac complication in patients with the disease.