Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy (EE), an inherited and severe metabolic disorder. To study the molecular effects of EE, we performed a proteomics study on mitochondria from cultured patient fibroblast cells. Samples from six patients were analyzed and revealed seven differentially regulated proteins compared with healthy controls. Two proteins involved in pathways of detoxification and oxidative/reductive stress were underrepresented in EE patient samples: mitochondrial superoxide dismutase (SOD2) and aldehyde dehydrogenase X (ALDH1B). Sulfide:quinone oxidoreductase (SQRDL), which takes part in the same sulfide pathway as ETHE1, was also underrepresented in EE patients. The other differentially regulated proteins were apoptosis inducing factor (AIFM1), lactate dehydrogenase (LDHB), chloride intracellular channel (CLIC4) and dimethylarginine dimethylaminohydrolase 1 (DDAH1). These proteins have been reported to be involved in encephalopathy, energy metabolism, ion transport, and nitric oxide regulation, respectively. Interestingly, oxidoreductase activity was overrepresented among the regulated proteins indicating that redox perturbation plays an important role in the molecular mechanism of EE. This observation may explain the wide range of symptoms associated with the disease, and highlights the potency of the novel gaseous mediator sulfide.

US detects as much clinically significant bowel disease as MRE. It is possible that MRE overestimates the presence of disease when using a scoring system. This study demonstrates the feasibility of using a clinical consensus reference standard in paediatric IBD imaging studies.

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I Objective: Pediatric Crohn’s disease has a more aggressive phenotype and course than in adults. Many patients develop complications that require surgery. The aim of this study was to identify the factors associated with increased risk for surgical intervention in pediatric patients with Crohn’s disease. Subjects and Methods: Retrospective review of medical records. We analyzed the following variables: sex, age at diagnosis, presenting symptoms, duration of symptoms before diagnosis, disease location and severity, presence of extraintestinal manifestations and presence of anti Saccharomyces cerevisiae antibodies. Univariate analysis using the Mann-Whitney test and the Fisher’s exact test was performed to detect the factors associated with surgery. Potential risk factors with p < 0.05 were further analyzed using a multivariate binary logistic regression model. Results: Fifty-seven patients (27 girls and 30 boys) were included in the analysis. More than one fourth of them (28.1%) required surgical management. Female sex (p = 0.043), disease behavior (p = 0.012) and presence of perianal disease at diagnosis (p < 0.001) were the variables associated with surgical intervention. Stricturing disease (OR, 24.944; p = 0.016), stricturing and penetrating disease (OR, 28.276; p = 0.011) and presence of perianal disease at diagnosis (OR, 95.802; p = 0.001) were independent risk factors for surgery. Female sex was associated with surgery without being an independent risk factor. Conclusion: Females with stricturing or stricturing and penetrating disease, or presence of perianal disease at diagnosis are at a higher risk for surgery and should be considered for more aggressive medical treatments.

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Anemia is the most common extraintestinal manifestation and complication of inflammatory bowel disease (IBD). The aim of our study was to assess the prevalence of anemia in newly diagnosed pediatric patients with IBD and to analyze its association with disease type, extent, and severity. We retrospectively reviewed the medical records of all patients with IBD treated in our department in the period of November 2011 to November 2020. The final analysis included the records of 80 children with newly diagnosed IBD: 45 with ulcerative colitis (UC) and 35 with Crohn’s disease (CD). The prevalence of anemia was 60.0% in the UC patients and 77.1% in the CD patients. Of the UC patients with anemia, 37.1% had pancolitis, 18.5% extensive disease, 33.3% left-sided colitis and 11.1% ulcerative proctitis. Of the CD patients with anemia, 81.5% had ileocolonic disease, 11.1% colonic disease and 7.4% ileal disease. Anemia was less common in patients with mild disease than in patients with moderate–severe disease (22.2 vs. 77.8%, p < 0.001 in UC and 25.9% vs. 74.1%, p < 0.001 in CD). Our study confirmed anemia as a frequent problem in pediatric patients with IBD. Children with more extensive and more severe disease are at higher risk to develop anemia.

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Background: Endoscopic evaluation is the gold standard for monitoring the disease activity in inflammatory bowel disease (IBD) but the procedure is invasive and not appropriate for frequent use, especially in the paediatric population. The aim of the present study was to assess the correlation between the levels of several inflammatory biomarkers and the degree of intestinal inflammation in paediatric patients with IBD. Materials and methods: A single center study including 31 children with ulcerative colitis (UC) and 22 children with Crohn&rsquo;s disease (CD) with different disease duration and activity. All participants provided blood samples to measure the levels of white blood cell count, platelets, C-reactive protein, erythrocyte sedimentation rate, albumin and fibrinogen, and faecal samples for measurement of faecal calprotectin and faecal alpha-1 antitrypsin. All participants underwent endoscopic evaluation. Endoscopic disease activity was assessed according to the Mayo Endoscopic Subscore and Simple Endoscopic Score for Crohn&lsquo;s Disease in UC and CD patients, respectively. Results: 135 visits were included: 73 for UC patients and 62 for CD patients. In UC patients the strongest correlation was between the Mayo Endoscopic Subscore and the faecal calprotectin (r=0.867, p<0.001) followed by the albumin (r=0.523, p<0.001) and the&nbsp;C-reactive protein (r=0.487, p<0.001). In CD the strongest correlation was between the Simple Endoscopic Score for Crohn&rsquo;s disease and the faecal calprotectin (r=0.872, p<0.001) followed by the C-reactive protein (0.708, p<0.001) and the erythrocyte sedimentation rate (0.605, p<0.001). Conclusions: The faecal calprotectin is a valuable surrogate marker of intestinal inflammation that is useful for monitoring of a disease activity in paediatric patients with IBD.