Disorders of Copper Metabolism in Children-A Problem too Rarely Recognized.

Copper plays an important role in metabolic processes. Both deficiency and excess of this element have a negative effect and lead to pathological conditions. Copper is a cofactor of many enzymatic reactions.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

Small molecular exogenous modulators of active forms of MMPs.

Matrix metalloproteinases (MMPs) are endopeptidases, and their activity depends on calcium and zinc metal ions. These enzymes are expressed originally in zymogenic form, where the active site of proteins is closed by a prodomain which is removed during activation. A homeostatic balance of their activity is primarily regulated by a 'cysteine switch' located on a consensus sequence of the prodomain and natural endogenous inhibitors, called tissue inhibitors of metalloproteinases (TIMPs).

Are children with gallstone disease more overweight? Results of a matched case-control analysis.

Introduction: Gallstone disease (GD) is increasingly common among children, possibly caused by an unhealthy food environment and the associated unhealthy lifestyle. In this study, we investigate the association between body weight and gallstone risk in a cohort of prospectively recruited children with GD.

Methods: We analysed 188 children with gallstones (50.

The Intersection of Human and Veterinary Medicine-A Possible Direction towards the Improvement of Cell Therapy Protocols in the Treatment of Perianal Fistulas.

The effective treatment of perianal fistulizing Crohn's disease is still a challenge. Local administration of mesenchymal stromal cells (MSCs) is becoming a part of accepted treatment options. However, as a fledgling technique, it still can be optimized.

Assessment of Liver Fibrosis with the Use of Elastography in Paediatric Patients with Diagnosed Cystic Fibrosis.

Background: Complications of cystic fibrosis-associated liver disease (CFLD) are a leading nonpulmonary cause of death. Noninvasive tests enabling early detection of liver changes, especially in children are sought. The aim of the study was to assess the scale of liver fibrosis with the use of elastography in paediatric patients with diagnosed cystic fibrosis (CF) and its comparison with other tests (APRI and Fibrotest).

Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.

Introduction: Gallstones are increasingly common in children. Genetic analyses of adult cohorts demonstrated that the sterol transporter ABCG8 p.D19H and Gilbert UGT1A1*28 variants enhance the odds of developing gallstones.

Analysis of the Clinical Course of Primary Sclerosing Cholangitis in Paediatric Population-Single Center Study.

Primary sclerosing cholangitis (PSC) is a rare cholestatic disease of the liver of unknown etiology, severe course and poor prognosis. PSC most often co-occurs with inflammatory bowel diseases (IBD), especially with ulcerative colitis (UC). The aim of the study was the analysis of the clinical course of primary sclerosing cholangitis in children, hospitalized in the Gastroenterology Unit in Katowice.

Analysis of frequency and risk factors for complications of enteral nutrition in children in Poland after percutaneous endoscopic gastrostomy placement.

Objectives: The aim of the study was to assess the complication rate and identify whether age, nutritional status, and history of respiratory aspiration prior to percutaneous endoscopic gastrostomy (PEG) are risk factors for post-PEG placement complications in Polish children. In addition, the safety of two enteral feeding methods (3 h vs. 8 h) after PEG insertion in children was compared.

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment.

Assessment of Selected Parameters of Liver Fibrosis and Inflammation in Patients with Diagnosed Cystic Fibrosis.

Changes in the liver and bile ducts observed in patients diagnosed with cystic fibrosis result from inflammatory processes as well as fibrosis, remodeling, apoptosis, and cholestasis. As a consequence, portal hypertension, cirrhosis, and hepatic failure may develop. So far, the complexity of these processes has not been elucidated.

Autoimmunity Predisposition in Girls With Turner Syndrome.

Turner Syndrome is associated with an increased risk of autoimmune diseases, such as autoimmune thyroiditis, coeliac disease, type 1 diabetes mellitus, inflammatory bowel disease, alopecia areata, or vitiligo. The presence of isochromosome iXq and exposure to estradiol may contribute to the development of the autoimmune process. The aim of this study was to determine the prevalence of autoimmune diseases in a group of TS patients and to assess the impact of karyotype and puberty on the development of autoimmune diseases.

Tolerability and safety of early enteral nutrition in children after percutaneous endoscopic gastrostomy placement: A multicentre randomised controlled trial.

Background & Aims: We assessed the tolerability and safety of implementing early enteral nutrition in children at 3 h after percutaneous endoscopic gastrostomy (PEG) placement to establish an optimum feeding mode in paediatric patients that reduced the fasting period, the inadequate nutritional support interval, and the hospitalisation time.

Methods: Children with clinical indications for PEG placement were recruited from six medical centres in Poland to participate in the study. The patients were centrally randomised to receive the first bolus feed, which comprised a polymeric diet (1 kcal/mL), via a feeding tube at 3 h (group 1) or 8 h (group 2) after PEG placement.

Serum Level of D-Lactate in Patients with Cystic Fibrosis: Preliminary Data.

D-Lactate is produced by the intestinal biota and later absorbed into circulation. Some patients with cystic fibrosis (CF) develop exocrine pancreatic insufficiency that may disturb the gut microbiome and enhance the production of D-lactate. However, this concept has not been studied yet.

Oxidative and Antioxidative Stress Status in Children with Inflammatory Bowel Disease as a Result of a Chronic Inflammatory Process.

Oxidative stress (OS) has been recently implicated in the disease pathogenesis in inflammatory bowel disease (IBD). The aim of the study was to evaluate oxidative and antioxidative stress status and the risk of the atherosclerotic process in children with IBD and functional gastrointestinal disorders (FGID). The prospective study included a group of 71 children during a period of 2 years.

Serum Hepcidin Level as a Marker of Iron Status in Children with Cystic Fibrosis.

Introduction: Iron deficiency is common in patients with cystic fibrosis. Conventional iron status markers are often abnormal in patients with CF, reflecting inflammation and/or infection, rather than actual iron stores. The aim was to evaluate serum hepcidin levels against selected iron status markers, assuming that hepcidin may be a more sensitive indicator of iron management in patients with active inflammation, such as those with CF.

Acute pancreatitis in children.

Introduction: The acute pancreatitis is a rare disease, but it has started to be diagnosed more often in children.

Aim: The aim of the study was single-centre, retrospective analysis of the incidence, aetiology, and clinical course of acute pancreatitis in children.

Material And Methods: We analysed the medical records of patients with acute pancreatitis hospitalised in the Gastroenterology Unit of the Paediatrics Department, Medical University of Silesia from Jan 2004 to Dec 2013.

The effectiveness of Lactobacillus reuteri DSM 17938 as an adjunct to macrogol in the treatment of functional constipation in children. A randomized, double-blind, placebo-controlled, multicentre trial.

Objective: Constipation is one of the most common problems among children, with a prevalence ranging from 7 to 30%. It is treated with defecation training and laxative medications. However, many patients do not respond to the standard therapy.

Induction and maintenance infliximab therapy in children with moderate to severe ulcerative colitis: Retrospective, multicenter study.

Background: Pediatric ulcerative colitis (UC) is a severe disease characterised by the presence of extensive inflammatory lesions in the colon. The administration of intravenous corticosteroids is recommended in patients with acute relapse of the disease, whereas early treatment with cyclosporine, tacrolimus or infliximab is recommended if there is no improvement.

Objectives: The aim of this study was to retrospectively evaluate the efficacy and safety of infliximab therapy in the treatment of moderate-to-severe and severe relapse of pediatric UC.

Evaluation of the infliximab therapy of severe form of pediatric Crohn's disease in Poland: Retrospective, multicenter studies.

Background: Registration of infliximab in Poland has increased chances to induce clinical remission and mucosal healing in the severe form of pediatric Crohn's disease.

Objectives: The aim of this retrospective study was to assess the results and safety of infliximab therapy in the severe form of pediatric Crohn's disease.

Material And Methods: The study included 153 children with severe form of non-fistulizing Crohn's disease treated with infliximab.

The concentration of calprotectin in the stools of children with diagnosed cystic fibrosis.

Introduction: Calprotectin is a protein that plays a regulatory role in inflammatory reactions as an antibacterial and antiproliferative factor.

Aim: To assess the concentration of calprotectin in the stools of patients with diagnosed cystic fibrosis.

Material And Methods: Forty-one patients were included in the study, 24 boys and 17 girls, aged from 7 weeks to 18 years.

Eosinophilic colitis in children.

Introduction: Eosinophilic colitis, which is a rare form of eosinophilic gastrointestinal diseases, occurs as primary and secondary allergic eosinophilic colitis of the gastrointestinal tract infection, inflammatory bowel disease, celiac disease, and vasculitis. The diagnosis is based on a significant amount of eosinophils in the inflammatory infiltrate of the colon wall.

Aim: To analyze the clinical picture taking into account comorbidities and endoscopic picture in children with eosinophilic colitis.

Induction and Maintenance Infliximab Therapy for the Treatment of Crohn's Disease with Perianal Fistulas in Children: Retrospective, Multicenter Study.

Background: Infliximab is a biological drug used for the treatment of Crohn's disease in children.

Objectives: The aim of this retrospective study was the estimation of effectiveness and safety of infliximab in the treatment of Crohn's disease with perianal fistulas in children.

Material And Methods: Analysis comprised 50 children with Crohn's disease with perianal fistulas aged 9 to 18 years (16 girls and 34 boys) who failed to respond to conventional therapy.