Background: This study aimed to determine the proportion of patients with sarcopenia diagnosed by MRI and compare these results to bioelectrical impedance analysis (BIA). Methods: Children with newly diagnosed Crohn’s disease (CD) who had MRI enterography (MRE) and BIA and had at least 12 months of follow-up were included. Total psoas muscle area (TPMA) and total paravertebral muscle (TPVM) were measured and compared to subjects’ lean mass and the lean mass body index (LMBI) was assessed by BIA. Results: 30 newly diagnosed children with CD were included (mean age 14.2 years, 53% male). Sarcopenia was found in 13 (43%) children; mean TPMA was 15.2 (1.1 SD) cm² and TPVM 30.95 (1.7 SD) cm². A highly positive correlation was shown for lean mass assessed by BIA and TPMA (0.706, p < 0.001) and TPVM (0.75, p < 0.001). Sarcopenia was more prevalent in boys (77% vs. 24%, p = 0.004), patients with the perianal disease (69% vs. 29%, p = 0.03), and children with sarcopenia were likely to receive anti-TNF (77% vs. 41%, p = 0.05). During the follow-up period, 16 (53%) children experienced a relapse. TPMA (HR 0.99, p = 0.018) and TPVM (HR 0.99, p = 0.031) values were statistically significant risk factors for relapse. Conclusion: A high proportion of patients with CD have sarcopenia at the time of the diagnosis. There is a good correlation between muscle mass assessed by MRI and BIA. Because MRI is performed in a great proportion of newly diagnosed CD patients it can also be used to assess the presence of sarcopenia.

Research background. Food frequency questionnaire (FFQ) is an important method for estimation of dietary intake in epidemiologic studies. The aim of the study is to develop a FFQ and evaluate its relative validity for adolescents 12 to 18 years old. Experimental approach. FFQ was developed from previously validated youth/adolescent diet questionnaire (YAQ) by modifying it in order to include Croatian national foods. The final version of the FFQ (FFQ-m) comprised 87 food items. The reference method was a set of two 3-day food records (3DFR) administered twice during the 3 non-consecutive days, one month apart. The FFQ-m was administered approximately on the last day of the second applied dietary food record. Adolescents were recruited from randomly selected elementary and high schools in urban and rural areas of Croatia. FFQ-m was validated on a sample of 84 adolescents (70.2 % female). Nutritional intake from FFQ-m and 3DFR was analysed for each participant. Spearman correlation coefficients (r) and Bland-Altman method were used to assess the validity of the FFQ-m compared to 3DFR. Anthropometric parameters were assessed in 78 adolescents. Results and conclusions. The mean nutrient intake estimated by the FFQ-m were higher than that of the 3DFR. The average correlation coefficient for energy and nutrients in our validation study was 0.40. On average, 76.5 % of adolescents were classified in the same or adjacent quartile of the nutrient intake. Bland-Altman analysis showed good agreement with all macronutrients and some micronutrients (sodium, phosphorus, potassium, calcium, magnesium and iron). A simple self-administrated questionnaire completed by adolescents is a valid tool for measuring energy and nutrient intake among adolescent population. Novelty and scientific contribution. This is the first FFQ developed and validated for population of adolescents in Croatia. It will contribute to further research of nutritional intake in the population of adolescents, especially those from the region.

Background: Gastroesophageal reflux disease (GERD) has been implicated in recurrent wheezing, but mechanisms and diagnostic markers remain debated. Multichannel intraluminal impedance-pH (MII-pH) monitoring improves reflux detection compared to pH-metry, while bronchoalveolar lavage (BAL) cytology may provide evidence of aspiration-related airway inflammation. Objectives: This study aims to examine the relationship between reflux characteristics, BAL cytology and clinical outcomes in preschool children with severe recurrent wheeze. Methods: Preschool-aged children undergoing combined MII-pH and bronchoscopy for severe recurrent wheeze were included. BAL samples were assessed for lipid-laden macrophages (LLM). Associations between reflux parameters, BAL cytology and response to antireflux treatment were analysed. Results: GERD was identified in 70% of participants, with weakly acidic and proximal reflux episodes predominating. Children with GERD exhibited significantly higher percentages of LLM compared with those without GERD (12% vs. 1%, p < 0.001). LLM percentage correlated with multiple reflux characteristics, including weakly acidic, liquid and proximal reflux (p < 0.047; p < 0.047 and p < 0.047, respectively), as well as symptom indices (p < 0.001). Following antireflux therapy, wheezing episodes were substantially reduced. Conclusions: GERD, particularly weakly acidic and proximal reflux, is associated with airway inflammation and recurrent wheeze in preschool children. BAL LLM percentage may serve as a surrogate marker of reflux-related microaspiration. MII-pH monitoring enhances diagnostic accuracy beyond pH-metry and may help guide targeted antireflux interventions.

Background and aims: From the patients’ perspective, diet has a relevant role in triggering symptoms of inflammatory bowel disease (IBD). There is a lack of prospective studies regarding the diet of children with IBD. The aim of this study was to assess the frequency and impact of self-imposed elimination diets on the nutritional status and clinical course of disease in the pediatric population. Methods: This was a prospective case-control study that included newly diagnosed patients with IBD and healthy controls (age/sex-matched peers and siblings) over a one-year period. The participants were examined in three categories: (1) anthropometric data and nutritional status; (2) dietary intake, as obtained by a Food Frequency Questionnaire (FFQ); and (3) dietary beliefs and elimination diets, as obtained by a structured questionnaire. Results: Overall, one-hundred and thirty-seven participants were included (twenty-eight with Crohn’s disease, sixteen with ulcerative colitis, three with IBD-unclassified, and seventy healthy controls). Only 15% of patients followed the self-imposed elimination diet upon the diagnosis, which increased to 47.6% by the end of the follow-up. The elimination diet did not influence the nutritional status and quality of the diet. Self-imposed elimination diets were not a risk factor for disease relapse. Most of the patients received nutritional counseling during the follow-up. Conclusions: The number of patients following self-imposed elimination diets had increased during the disease course but with no influence on nutritional status or relapse risk.

Introduction Sitosterolemia is a rare, inherited, autosomal recessive lipid disorder characterized by the accumulation of plant sterols and cholesterol in plasma and tissues as a consequence of hyperabsorption and impaired biliary secretion of sitosterol. It is caused by mutations in ABCG5 and/or ABCG8 genes that encode a pair of ABC half transporters and form a heterodimer (ABCG5/G8), which then traffics to the surface of hepatocytes and enterocytes and promotes the secretion of sitosterol into the bile and the intestinal lumen. Here we report on a 14-year-old boy with hypercholesterolemia, failure to thrive and short stature. Methods Patient was referred to use due to suspicion of familial hypercholesterolemia (FH). His father has hypercholesterolemia and arterial hypertension, grandfather on father’s side also has arterial hypertension and his mother and grandmother on mother’s side have thrombocytopenia. One of his two younger brothers has unilateral perceptual hearing loss, hypercholesterolemia, thrombocytopenia and short stature. NGS analysis of clinical exome (CES, Clinical Exome Sequencing) was performed using peripheral blood DNA obtained from patient and his parents. CES analysis in affected brother is ongoing. Results CES revealed homozygous missense mutation ABCG8: c.584T>A, p.(Leu195Gln) in patient. His parents are heterozygous carriers of the same mutation. According to ACMG/AMP classification and publications data this variant is classified as likely pathogenic. Discussion and Conclusion Leucine at codon 195 is highly conserved among all five human ABCG transporters. This mutation is localized within the nucleotide-binding domain (NBD) that powers the transport of substrates by binding and hydrolyzing ATP molecules. Phenotypically, sitosterolemia is very heterogeneous. It includes hypercholesterolemia, accelerated atherosclerosis, premature coronary artery disease, xanthomas, hemolytic anemia, stomatocytes, macrothrombocytopenia, arthraligia, splenomegaly and elevated liver function test. Because of this it is considered extremely underdiagnosed with over 100 cases reported so far. According to rough estimations the frequency could be at least 1 in 200.000 individuals. It is also considered a recessive disorder, but recent studies have revealed that heterozygous carriers also exhibit milder manifestations as seen in this patient’s parents. Sitosterolemia is also often misdiagnosed as FH and mistreated with statins that are partially or completely ineffective. In conclusion, sitosterolemia should be considered in children with hyperlipidemia, especially with a significant hypercholesterolemia and increased low-density lipoprotein levels. This study was supported by CERRM, Republic of Croatia, and by the EU through ERDF, under grant agreement No. KK.01.1.1.01.0008, project Reproductive and Regenerative Medicine – Exploring New Platforms and Potentials’.