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At the follow-up (median 46.0 months), 25 patients had undergone CD-related bowel surgery, 44 had CD-related hospitalizations, and 66 experienced CR. Of 151 patients who underwent follow-up colonoscopy after the index colonoscopy for MH, 96 experienced ER. Among the 3 groups, patients in the DR + CRPnorm group had the lowest risk of clinical or endoscopic relapse. The DR group had a lower rate of CR than the MH-only group (P = 0.03); there was no difference in the rate of CD-related surgery, hospitalizations, or ER. Discussion Patients with DR combined with a normalized CRP showed better outcomes than those with DR only. The outcomes of patients with MH were similar to those of patients with DR, except for shorter flare-free survival.Objectives To summarize the literature on the influence of exercise on the gut microbiota of healthy adults. Methods A systematic and comprehensive search in electronic database, including SciELO, Scopus, PubMed, and Web of Science up to July 5, 2019. Eligibility criterion was original studies conducted on healthy humans including exercise interventions or interventions involving any type of physical activity. Results The initial search retrieved 619 articles of which 18 met the inclusion criteria, 9 were observational, 4 reported very short-term exercise interventions, and 5 reported medium/long-term exercise interventions. Higher levels of physical activity or cardiorespiratory fitness were positively associated with fecal bacterial alpha diversity. Contrasting associations were detected between both the level of physical activity and cardiorespiratory fitness and fecal counts for the phyla Firmicutes, Bacteroidetes, and Proteobacteria. Higher levels of physical activity and cardiorespiratory fitness were positively associated with the fecal concentration of short-chain fatty acids. Reports on the effects of very short-term and medium/long-term exercise interventions on the composition of the gut microbiota were inconsistent. Discussion Higher levels of physical activity and cardiorespiratory fitness are associated with higher fecal bacterial alpha diversity and with the increased representation of some phyla and certain short-chain fatty acids in the feces of healthy adults. Very short-term and medium/long-term exercise interventions seem to influence the fecal counts of some phyla. However, the heterogeneity between studies hampers any strong conclusions from being drawn. Better-designed studies are needed to unravel the possible mechanisms through which exercise might influence the composition and activity of the human gut microbiota.Objectives Monogenic inflammatory bowel disease (IBD) comprises rare Mendelian causes of gut inflammation, often presenting in infants with severe and atypical disease. This study aimed to identify clinically relevant variants within 68 monogenic IBD genes in an unselected pediatric IBD cohort. Methods Whole exome sequencing was performed on patients with pediatric-onset disease. Variants fulfilling the American College of Medical Genetics criteria as "pathogenic" or "likely pathogenic" were assessed against phenotype at diagnosis and follow-up. Individual patient variants were assessed and processed to generate a per-gene, per-individual, deleteriousness score. Results Four hundred one patients were included, and the median age of disease-onset was 11.92 years. In total, 11.5% of patients harbored a monogenic variant. TRIM22-related disease was implicated in 5 patients. A pathogenic mutation in the Wiskott-Aldrich syndrome (WAS) gene was confirmed in 2 male children with severe pancolonic inflammation and primary sclerosing cholangitis. In total, 7.3% of patients with Crohn's disease had apparent autosomal recessive, monogenic NOD2-related disease. Compared with non-NOD2 Crohn's disease, these patients had a marked stricturing phenotype (odds ratio 11.52, significant after correction for disease location) and had undergone significantly more intestinal resections (odds ratio 10.75). Variants in ADA, FERMT1, and LRBA did not meet the criteria for monogenic disease in any patients; however, case-control analysis of mutation burden significantly implicated these genes in disease etiology. Discussion Routine whole exome sequencing in pediatric patients with IBD results in a precise molecular diagnosis for a subset of patients with IBD, providing the opportunity to personalize therapy. NOD2 status informs risk of stricturing disease requiring surgery, allowing clinicians to direct prognosis and intervention.Objectives To investigate whether blood total lysosomal acid lipase activity (BT-LAL) levels are uniquely associated with the noncirrhotic and cirrhotic stages of nonalcoholic fatty liver disease (NAFLD) and with protection from NAFLD in metabolically/genetically predisposed subjects and a normal liver. To clarify which enzyme-carrying circulating cells are involved in reduced BT-LAL of NAFLD. Methods In a cross-sectional study, BT-LAL was measured by a fluorigenic method in patients with NAFLD (n = 118), alcoholic (n = 116), and hepatitis C virus-related disease (n = 49), in 103 controls with normal liver and in 58 liver transplant recipients. Intracellular platelet and leukocyte LAL was measured in 14 controls and 28 patients with NAFLD. Results Compared with controls, (i) BT-LAL and LAL in platelets, but not in leukocytes, were progressively reduced in noncirrhotic NAFLD and in nonalcoholic steatohepatitis-related cirrhosis; (ii) platelet and leukocyte counts did not differ in patients with noncirrhotic NAFLD; and (iii) BT-LAL did not differ in alcoholic and hepatitis C virus noncirrhotic patients. BT-LAL progressively increased in controls with metabolic syndrome features according to their PNPLA3 rs738409 steatosis-associated variant status (II vs IM vs MM), and their BT-LAL was higher than that of noncirrhotic NAFLD, only when carriers of the PNPLA3 unfavorable alleles were considered. Liver transplant recipients with de novo NAFLD compared with those without de novo NAFLD had lower BT-LAL. Discussion LAL in blood and platelets is progressively and uniquely reduced in NAFLD according to disease severity. High BT-LAL is associated with protection from NAFLD occurrence in subjects with metabolic and genetic predisposition. this website Low LAL in platelets and blood could play a pathogenetic role in NAFLD.

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