We describe the clinical presentation of a newborn, who received diagnosis of diffuse right coronary artery dilatation and a high origin of the same vessel, in the absence of intrauterine hypoxia or other identifiable causes of coronary artery ectasia. The relevance of the case is in the complex aetiology of congenital heart malformation. In addition, we also highlight the difficult therapeutic management of these patients, in lack of guidelines for newborn population.

Background and aim Lung ultrasound has been used to describe common respiratory diseases both by visual and computer-assisted gray scale analysis. In the present paper, we compare both methods in assessing neonatal respiratory status keeping two oxygenation indexes as standards. Patients and methods Neonates admitted to the NICU for respiratory distress were enrolled. Two neonatologists not attending the patients performed a lung scan, built a single frame database and rated the images with a standardized score. The same dataset was processed using the gray scale analysis implemented with textural features and machine learning analysis. Both the oxygenation ratio (PaO2/FiO2) and the alveolar arterial oxygen gradient (A-a) were kept as reference standards. Results Seventy-five neonates with different respiratory status were enrolled in the study and a dataset of 600 ultrasound frames was built. Visual assessment of respiratory status correlated significantly with PaO2/FiO2 (r = -0.55; p<0.0001) and the A-a (r = 0.59; p<0.0001) with a strong interobserver agreement (K = 0.91). A significant correlation was also found between both oxygenation indexes and the gray scale analysis of lung ultrasound scans using regions of interest corresponding to 50K (r = -0.42; p<0.002 for PaO2/FiO2; r = 0.46 p<0.001 for A-a) and 100K (r = -0.35 p<0.01 for PaO2/FiO2; r = 0.58 p<0.0001 for A-a) pixels regions of interest. Conclusions A semi quantitative estimate of the degree of neonatal respiratory distress was demonstrated both by a validated scoring system and by computer assisted analysis of the ultrasound scan. This data may help to implement point of care ultrasound diagnostics in the NICU.

Celiac disease (CD) is a frequent inflammatory intestinal disease, with a genetic background, caused by gliadin-containing food. Undigested gliadin peptides P31-43 and P57-68 induce innate and adaptive T cell-mediated immune responses, respectively. Alterations in the cell shape and actin cytoskeleton are present in celiac enterocytes, and gliadin peptides induce actin rearrangements in both the CD mucosa and cell lines. Cell shape is maintained by the actin cytoskeleton and focal adhesions, sites of membrane attachment to the extracellular matrix. The locus of the human Lipoma Preferred Partner (LPP) gene was identified as strongly associated with CD using genome-wide association studies (GWAS). The LPP protein plays an important role in focal adhesion architecture and acts as a transcription factor in the nucleus. In this study, we examined the hypothesis that a constitutive alteration of the cell shape and the cytoskeleton, involving LPP, occurs in a cell compartment far from the main inflammation site in CD fibroblasts from skin explants. We analyzed the cell shape, actin organization, focal adhesion number, focal adhesion proteins, LPP sub-cellular distribution and adhesion to fibronectin of fibroblasts obtained from CD patients on a Gluten-Free Diet (GFD) and controls, without and with treatment with A-gliadin peptide P31-43. We observed a “CD cellular phenotype” in these fibroblasts, characterized by an altered cell shape and actin organization, increased number of focal adhesions, and altered intracellular LPP protein distribution. The treatment of controls fibroblasts with gliadin peptide P31-43 mimics the CD cellular phenotype regarding the cell shape, adhesion capacity, focal adhesion number and LPP sub-cellular distribution, suggesting a close association between these alterations and CD pathogenesis.

Celiac disease (CD) occurs frequently, and is caused by ingestion of prolamins from cereals in subjects with a genetic predisposition. The small intestinal damage depends on an intestinal stress/innate immune response to certain gliadin peptides (e.g., A-gliadin P31-43) in association with an adaptive immune response to other gliadin peptides (e.g., A-gliadin P57-68). Gliadin and peptide P31-43 affect epithelial growth factor receptor (EGFR) signaling and CD enterocyte proliferation. The reason why the stress/innate immune and proliferative responses to certain gliadin peptides are present in CD and not in control intestine is so far unknown. The aim of this work is to investigate if, in CD, a constitutive alteration of enterocyte proliferation and signaling exists that may represent a predisposing condition to the damaging effects of gliadin. Immunofluorescence and immunohistochemistry were used to study signaling in CD fibroblasts and intestinal biopsies. Western blot (WB) analysis, immunoprecipitation, and quantitative PCR were also used. We found in CD enterocytes enhancement of both proliferation and Epidermal Growth Factor Receptor (EGFR)/ligand system. In CD enterocytes and fibroblasts we found increase of the phosphorylated downstream signaling molecule Extracellular Signal Regulated Kinase (ERK); block of the ERK activation normalizes enterocytes proliferation in CD mucosa. In conclusion the same pathway, which gliadin and gliadin peptide P31-43 can interfere with, is constitutively altered in CD cells. This observation potentially explains the specificity of the damaging effects of certain gliadin peptides on CD intestine.

C eliac disease (CD) is an immune-mediated systemic disorder elicited by gluten and related proteins in genetically (mainly human leukocyte antigen) susceptible individuals, characterized by a variable combination of gluten-dependent clinical manifestations, anti-tissue transglutaminase (anti-tTG) antibodies, and enteropathy. It presents with increasing incidence worldwide and depends on both genetic and environmental factors. Intestinal damage is the end-stage lesion of an inappropriate T-cell–mediated immune response against gluten peptides that are modified in the lamina propria by transglutaminase enzymes. The clinical spectrum of CD includes symptomatic, silent, latent, and potential forms of the disease. Symptomatic CD can be characterized by classic gastrointestinal manifestations such as diarrhea, weight loss, muscle wasting, failure to thrive, vomiting, and constipation, or by extra-gastrointestinal manifestations such as short stature, iron-deficiency anemia, hypertransaminasemia, delayed puberty, dermatitis herpe-tiformis, and others. CD is defined as silent whenever typical intestinal histopathology is found in a patient who is apparently free of symptoms. A potential form of CD is diagnosed in patients who are positive for anti-endomysial and/or anti-tTG, the typical human leukocyte antigen–predisposing genotype, but present with normal mucosal architecture at the intestinal biopsy.