Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by severe cutaneous and mucosal fragility, and frequently complicated by multifactorial chronic anemia that responds poorly to conventional therapies. This cross-sectional study investigates the factors contributing to anemia in RDEB by analyzing a representative cohort, that was stratified by disease severity, anemia, and iron status, to examine their hematological parameters, cytokine profile, and the erythropoietin-erythroferrone-hepcidin (EPO-ERFE-hepcidin) axis. Anemia was present in 50% of the cohort. Hemoglobin levels showed a strong negative correlation with the percentage of body surface area affected and C-reactive protein levels (CRP), identifying these as anemia risk factors in RDEB. Moderate-severe inflammation (CRP ≥ 15 mg/L) was observed in all patients with anemia, but no specific cytokine profile was linked with anemia risk because of variability in interleukin-6 (IL-6), IL-1β, IL-10, tumor necrosis factor, and interferon-γ levels. The regulation of the EPO-ERFE-hepcidin axis showed discrepancies with the patterns expected based on patients’ anemia severity and iron status. According to the reticulocyte production index, an inadequate bone marrow response was observed in 90% of patients with anemia, irrespective of EPO levels. Patients with functional or true iron deficiency had higher ERFE levels, although ERFE showed no consistent correlation with EPO and was elevated in both patients with anemia and those without anemia. Elevated hepcidin was primarily linked to the highest ferritin levels, mostly in patients with a history of iron infusions and/or transfusions. These findings highlight the need for personalized, targeted approaches that address the complex interplay between inflammation and iron dysregulation, to improve anemia management in RDEB and other chronic inflammatory conditions.

Celiac disease (CeD) is an autoimmune condition triggered by gluten in genetically predisposed individuals, affecting all ages. Intestinal permeability (IP) is crucial in the pathogenesis of CeD and it is primarily governed by tight junctions (TJs) that uphold the intestinal barrier’s integrity. The protein zonulin plays a critical role in modulating the permeability of TJs having emerged as a potential non-invasive biomarker to study IP. The importance of this study lies in providing evidence for the usefulness of a non-invasive tool in the study of IP both at baseline and in the follow-up of paediatric patients with CeD. In this single-centre prospective observational study, we explored the correlation between faecal zonulin levels and others faecal and serum biomarkers for monitoring IP in CeD within the paediatric population. We also aimed to establish reference values for faecal zonulin in the paediatric population. We found that faecal zonulin and calprotectin values are higher at the onset of CeD compared with the control population. Specifically, the zonulin levels were 347.5 ng/mL as opposed to 177.7 ng/mL in the control population (p = 0.001), while calprotectin levels were 29.8 μg/g stool compared to 13.9 μg/g stool (p = 0.029). As the duration without gluten consumption increased, a significant reduction in faecal zonulin levels was observed in patients with CeD (348.5 ng/mL vs. 157.1 ng/mL; p = 0.002), along with a decrease in the prevalence of patients with vitamin D insufficiency (88.9% vs. 77.8%). We conclude that faecal zonulin concentrations were higher in the patients with active CeD compared with healthy individuals or those following a gluten-free diet (GFD). The significant decrease in their values over the duration of the GFD suggests the potential use of zonulin as an additional tool in monitoring adherence to a GFD.

Fortified human milk is the first choice for preterm infants. Although individualized fortification is recommended, the optimal method for this population remains uncertain. We conducted a comparative study assessing the growth effects of adjusted (AF) and targeted fortification (TF) in extremely low birth weight (ELBW) infants. This single-center, randomized, controlled clinical trial was conducted at a tertiary neonatal unit in Spain. Eligible participants were premature infants with a birthweight of <1000 g exclusively fed with human milk. A total of 38 patients were enrolled, 15 of them randomized to AF group and 23 to TF group. AF was based on blood urea nitrogen (BUN) concentration and TF on human milk analysis. The primary outcome was weight gain velocity (g/kg/day). No significant differences were found in weight gain velocity at 28 days, at 36 weeks of postmenstrual age, at discharge, nor during the intervention. Protein intake was significantly higher in the AF group (5.02 g/kg/day vs. 4.48 g/kg/day, p = 0.001). No differences were found in the lipid, carbohydrate, and energy intake; in the weight z score change between the different time points; nor in the length and head circumference growth. Both AF and TF are comparable methods of fortification and provide the appropriate growth rate in ELBW infants.

Pancreatic ductal adenocarcinoma (PDAC) is characterized by its poor prognosis. The current challenge remains the absence of predictive biomarkers. Cytokines are crucial factors in the pathogenesis and prognosis of PDAC. Furthermore, there is growing interest in differentiating between molecular subtypes of PDAC. The aim of our study is to evaluate the association between the analyzed cytokines and the molecular subtypes of PDAC and to determine their prognostic value. Cytokine levels were measured in 73 patients, and molecular subtypes were analyzed in 34 of these patients. Transforming Growth Factor Beta 2 (TGF-β2) levels were independently associated with the basal-like and null subtypes. In patients with locally advanced and metastatic PDAC, elevated levels of interleukin (IL)-1α, IL-1β, IL-6, IL-8, IL-9, and IL-15 were associated with a higher risk of progression during first-line treatment, and increased levels of IL-1β, IL-6, IL-8, IL-9, and IL-15 were related to increased mortality. Furthermore, a significant association was observed between higher percentiles of IL-6 and IL-8 and shorter progression-free survival (PFS) during first-line treatment, and between higher percentiles of IL-8 and shorter overall survival (OS). In the multivariate analysis, only elevated levels of IL-8 were independently associated with a higher risk of progression during first-line treatment and mortality. In conclusion, the results of our study suggest that cytokine expression varies according to the molecular subtype of PDAC and that cytokines also play a relevant role in patient prognosis.

Recessive dystrophic epidermolysis bullosa(RDEB),due to mutations in COL7A1 encoding collagen 7,is a rare incurable skin fragility disease accomp | POSTER

Background/Objectives: Recessive dystrophic epidermolysis bullosa (RDEB) is a severe congenital genodermatosis characterized by skin and mucosa fragility, chronic inflammation, recurrent infections and high nutritional demands due to increased metabolism and epithelial barrier-related losses, placing patients at risk of zinc deficiency. We aimed to investigate the clinical relevance and biochemical determinants of zinc deficiency as a potentially modifiable contributor to disease burden in RDEB. Methods: In this cross-sectional study (n = 84), serum zinc levels were analyzed in association with sex, age, disease severity, percentage of body surface area (BSA) affected, inflammatory markers, infection burden, and common clinical complications including anemia and growth impairment. Results: Zinc deficiency, defined as levels below 670 µg/L, was identified in 35% of patients and became more frequent after age 5 and during adulthood, particularly among those with more severe disease. Deficiency was strongly associated with anemia, inflammation, infection burden, growth impairment, and extensive skin involvement. A revised cutoff of 780 µg/L is proposed, showing improved diagnostic performance for identifying patients at risk of systemic complications, and offering a more suitable threshold for starting preventive supplementation. Multivariate logistic modeling confirmed that low serum zinc independently predicted anemia risk, alongside transferrin saturation and C- reactive protein levels. Serum albumin was identified as the strongest determinant of zinc levels, partially mediating the effects of inflammation and skin involvement. Conclusions: These findings identify serum zinc as a clinically relevant marker of nutritional status and complication burden in RDEB. While no causal or therapeutic effects can be inferred from this cross-sectional study, the strong and biologically plausible associations observed suggest a rationale for systematic monitoring and correction of zinc deficiency as part of comprehensive supportive care, and warrant prospective studies to assess clinical benefit.