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| 1 | Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis显示文摘AIM:To investigated the molecular cause of very early-onset ulcerative colitis(UC)in an 18-mo-old affected child.METHODS:We analysed the interleukin-10(IL10)receptor genes at the DNA and RNA level in the proband and his relatives.Beta catenin and tumor necrosis factor-α(TNFα)receptors were analysed in the proteins extracted from peripheral blood cells of the proband,his relatives and familial adenomatous polyposis(FAP)and PTEN hamartoma tumor syndrome(PHTS)patients.Samples were also collected from the proband’s inflamed colorectal mucosa and compared to healthy and tumour mucosa collected from a FAP patient and patients affected by sporadic colorectal cancer(CRC).Finally,we examined mesalazine and azathioprine effects on primary fibroblasts stabilised from UC and FAP patients.RESULTS:Our patient was a compound heterozygote for the IL10RB E47K polymorphism,inherited from his father,and for a novel point mutation within the IL10RA promoter(the-413G->T),inherited from his mother.Beta catenin and tumour necrosis factorαreceptors-Ⅰ(TNFRI)protein were both over-expressed in peripheral blood cells of the proband’s relatives more than the proband.However,TNFRII was over-expressed only in the proband.Finally,both TNFα-receptors were shown to be under-expressed in the inflamed colon mucosa and colorectal cancer tissue compared to healthy colon mucosa.Consistent with this observation,mesalazine and azathioprine induced,in primary fibroblasts,IL10RB and TNFRII over-expression and TNFRI and TNFαunder-expression.We suggest thatβ-catenin and TNFRI protein expression in peripheral blood cells could represent molecular markers of sub-clinical disease in apparently healthy relatives of patients with early-onset UC.CONCLUSION:A synergistic effect of several variant alleles of the IL10 receptor genes,inherited in a Mende-lian manner,is involved in UC onset in this young child. | Martina Galatola Erasmo Miele Caterina Strisciuglio Lorella Paparo Daniela Rega Paolo Delrio Francesca Duraturo Massimo Martinelli Giovanni Battista Rossi Annamaria Staiano Paola Izzo Marina De Rosa | 2013 | World Journal of Gastroenterology2013，19，46： | 7 |
| 2 | Italian survey on non-steroidal anti-inflammatory drugsand gastrointestinal bleeding in children显示文摘AIM: To investigate gastrointestinal complications associated with non-steroidal anti-inflammatory drug(NSAIDs) use in children.METHODS: A retrospective, multicenter study was conducted between January 2005 and January 2013, with the participation of 8 Italian pediatric gastroenterology centers. We collected all the cases of patients who refer to emergency room for suspected gastrointestinal bleeding following NSAIDs consumption, and underwent endoscopic evaluation. Previous medical history, associated risk factors, symptoms and signs at presentation, diagnostic procedures, severity of bleeding and management of gastrointestinal bleeding were collected. In addition, data regarding type of drug used, indication, dose, duration of treatment and prescriber(physician or selfmedication) were examined. RESULTS: Fifty-one patients, including 34 males, were enrolled(median age: 7.8 years). Ibuprofen was the most used NSAID [35/51 patients(68.6%)]. Pain was the most frequent indication for NSAIDs use [29/51 patients(56.9%)]. Seven patients had positive family history of Helicobacter pylori(H. pylori) infection or peptic ulcer, and 12 had associated comorbidities. Twenty-four(47%) out of 51 patients used medication inappropriately. Hematemesis was the most frequent symptom(33.3%). Upper gastrointestinal endoscopy revealed gastric lesions in 32/51(62%) patients, duodenal lesions in 17(33%) and esophageal lesions in 8(15%). In 10/51(19.6%) patients, a diagnosis of H. pylori gastritis was made. Forty-eight(94%) patients underwent medical therapy, with spontaneous bleeding resolution, while in 3/51(6%) patients, an endoscopic hemostasis was needed.CONCLUSION: The data collected in this study confirms that adverse events with the involvement of the gastrointestinal tract secondary to NSAID use are also common in | Sabrina Cardile Massimo Martinelli Arrigo Barabino Paolo Gandullia Salvatore Oliva Giovanni Di Nardo Luigi Dall'Oglio Francesca Rea Gian Luigi de'Angelis Barbara Bizzarri Graziella Guariso Enzo Masci Annamaria Staiano Erasmo Miele Claudio Romano | 2016 | World Journal of Gastroenterology2016，22，5： | 7 |
| 3 | Stool consisten- cy, but not frequency, correlates with total gastrointestinal transit time in children显示文摘 | Marina Russo Massimo Martinelli Elisa Sciorio etal | 2013 | The Journal of pediatrics2013，6，162： | 1 |
| 4 | A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study显示文摘 | Giuseppe Fiermonte Giovanni Parisi Diego Martinelli Francesco De Leonardis Giuliano Torre Ciro Leonardo Pierri Alessia Saccari Francesco Massimo Lasorsa Angelo Vozza Ferdinando Palmieri Carlo Dionisi-Vici | 2011 | Molecular Genetics and Metabolism2011，，4： | 1 |
| 5 | Stool Consistency, but Not Frequency, Correlates with Total Gastrointestinal Transit Time in Children显示文摘 | Marina Russo Massimo Martinelli Elisa Sciorio Carmine Botta Erasmo Miele Gianfranco Vallone Annamaria Staiano | 2013 | The Journal of Pediatrics2013，，6： | 1 |
| 6 | Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility显示文摘Among multiple sclerosis(MS)susceptibility genes,the strongest non-human leukocyte antigen(HLA)signal in the Italian population maps to the TNFSF14 gene encoding LIGHT,a glycoprotein involved in dendritic cell(DC)maturation.Through fine-mapping in a large Italian dataset(4,198 patients with MS and3,903 controls),we show that the TNFSF14 intronic SNP rs1077667 is the primarily MS-associated variant in the region.Expression quantitative trait locus(e QTL)analysis indicates that the MS risk allele is significantly associated with reduced TNFSF14 messenger RNA levels in blood cells,which is consistent with the allelic imbalance in RNA-Seq reads(P<0.0001).The MS risk allele is associated with reduced levels of TNFSF14 gene expression(P<0.01)in blood cells from 84 Italian patients with MS and 80 healthy controls(HCs).Interestingly,patients with MS are lower expressors of TNFSF14 compared to HC(P<0.007).Individuals homozygous for the MS risk allele display an increased percentage of LIGHT-positive peripheral blood myeloid DCs(CD11 c+,P=0.035)in 37 HCs,as well as in in vitro monocyte-derived DCs from 22 HCs(P=0.04).Our findings suggest that the intronic variant rs1077667 alters the expression of TNFSF14 in immune cells,which may play a role in MS pathogenesis. | Miriam Zuccala Nadia Barizzone Elena Boggio Luca Gigliotti Melissa Sorosina Chiara Basagni Roberta Bordoni Ferdinando Clarelli Santosh Anand Eleonora Mangano Domizia Vecchio Elena Corsetti Serena Martire Simona Perga Daniela Ferrante Alberto Gajofatto Andrei Ivashynka Claudio Solaro Roberto Cantello Vittorio Martinelli Giancarlo Comi Massimo Filippi Federica Esposito Maurizio Leone Gianluca De Beilis Umberto Dianzani Filippo Martinelli-Boneschi Sandra D’Alfonso | 2021 | Journal of Genetics and Genomics2021，48，6： | 0 |
| 7 | Prevalence of functional gastrointestinal disorders in children with celiac disease on different types of gluten-free diets显示文摘BACKGROUND Functional gastrointestinal disorders(FGIDs)are common during the pediatric age.FGIDs are not related to biochemical or structural abnormalities.However,since they have a high prevalence,several studies have evaluated an overlap between FGIDs and organic diseases.Individuals with celiac disease(CD)have been shown to be at an increased risk for functional abdominal pain,even if they adhere well to a gluten-free diet(GFD).Little information is available for the pediatric age group.The aims of our study were to evaluate the prevalence of FGIDS in CD children 1 year after diagnosis and to compare the prevalence of FGIDs in CD children on a GFD with processed foods compared with those on a GFD with natural products.AIM To assess the prevalence of FGIDs in children with CD after 1 year of follow-up and to compare the prevalence of FGIDs in children with CD on a GFD with processed foods and in children on a GFD with natural products.METHODS We recruited pediatric patients aged 1-18 years with a new CD diagnosis.Participants were randomized to two groups:Group A on a GFD with processed foods(diet 1);and group B on a GFD with natural products(diet 2).Clinical monitoring,diet assessment and the questionnaire on pediatric gastrointestinal symptoms-Rome IV version were performed at diagnosis(T0)and after 12 mo of follow-up(T1).Dietary intake was assessed using a 3-d food diary record.Data from the diaries were evaluated using WinFood nutrient analysis software.We assessed the prevalence of FGIDs at T1 and the correlation with the type of GFD.RESULTS We registered 104 CD children,with 55 patients in group A(53.0%)and 49 patients in group B(47.0%).Initially,30 of the 55(54.5%)CD children were symptomatic in group A,while 25 of 49(51.0%)were symptomatic in group B.At T1,in spite of a low or negative serology for CD,FGIDs prevalence was 10/55(18.0%)in group A and 8/49(16.3%)in group B,with no statistically significant difference between the two groups(P=0.780).At T1 the macro-and micronutrient intake was similar across the two groups with no significant differences in nutrient analysis.However,in both groups at T1 we found that a lower prevalence of FGIDs(P=0.055)was associated with an inferior caloric(odds ratio=0.99,95%confidence interval:0.99-1.00)and fat(odds ratio=0.33,95%confidence interval:0.65-0.95)intake.CONCLUSION Our results showed that CD children on a GFD have gastrointestinal symptoms with an elevated prevalence of FGIDs.Our study suggests that developing FGIDs may be linked to caloric intake and percentage of food fat,but it does not change between a GFD with processed foods or a GFD with natural products.However,long-term monitoring is required to evaluate a correlation between FGIDs and various types of GFDs. | Francesca Fiori Nastro Maria Rosaria Serra Sabrina Cenni Daniela Pacella Massimo Martinelli Erasmo Miele Annamaria Staiano Carlo Tolone Renata Auricchio Caterina Strisciuglio | 2022 | World Journal of Gastroenterology2022，28，46： | 0 |
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