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Genetics of inflammatory bowel disease from multifactorial to monogenic forms

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World Journal of Gastroenterology 2015年第43期21卷 12296-12310页

作者： Anna Monica Bianco Martina Girardelli Alberto Tommasini Institute for Maternal and Child Health-irccs "burlo garofolo"

Inflammatory bowel disease(IBD) is a group of chronic multifactorial disorders. According to a recent study,the number of IBD association loci is increased to 201,of which 37 and 27 loci contribute specifically to the development of Crohn's disease and ulcerative colitis respectively. Some IBD associated genes are involved in innate immunity,in the autophagy and in the inflammatory response such as NOD2,ATG16L1 and IL23 R,while other are implicated in immune mediated disease(STAT3) and in susceptibility to mycobacterium infection(IL12B). In case of early onset of IBD(VEO-IBD) within the 6th year of age,the disease may be caused by mutations in genes responsible for severe monogenic disorders such as the primary immunodeficiency diseases. In this review we discuss how these monogenic disorders through different immune mechanisms can similarly be responsible of VEO-IBD phenotype. Moreover we would highlight how the identification of pathogenic genes by Next Generation Sequencing technologies can allow to obtain a rapid diagnosis and to apply specific therapies.

关键词： Inflammatory bowel disease Primary immunodeficienc

Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?

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Neural Regeneration Research 2019年第4期14卷 582-587页

作者： Elisa Piscianz Liza Vecchi Brumatti Alberto Tommasini Annalisa Marcuzzi Department of Medicine Surgery and Health Sciences University of Trieste Institute for Maternal and Child Health-irccs "burlo garofolo"

The balance of autophagy, apoptosis and necroptosis is crucial to determine the outcome of the cellular response to cholesterol dysregulation. Cholesterol plays a major role in regulating the properties of cell membranes, especially as regards their fluidity, and the regulation of its biosynthesis influences the shape and functions of these membranes. Whilst dietary cholesterol can easily be distributed to most organs, the central nervous system, whose membranes are particularly rich in cholesterol, mainly relies on de novo synthesis. For this reason, defects in the biosynthesis of cholesterol can variably affect the development of central nervous system. Moreover, defective synthesis of cholesterol and its intermediates may reflect both on structural cell anomalies and on the response to inflammatory stimuli. Examples of such disorders include mevalonate kinase deficiency, and Smith-Lemli-Opitz syndrome, due to deficiency in biosynthetic enzymes, and type C Niemann-Pick syndrome, due to altered cholesterol trafficking across cell compartments. Autophagy, as a crucial pathway dedicated to the degradation of cytosolic proteins and organelles, plays an essential role in the maintenance of homeostasis and in the turnover of the cytoplasmic material especially in the presence of imbalances such as those resulting from alteration of cholesterol metabolism. Manipulating the process of autophagy can offer possible strategies for improving neuronal cell viability and function in these genetic disorders.

关键词： cholesterol inflammation apoptosis autophagy neurons inherited disease necroptosis neuronal dysfunction

Pediatric stricturing Crohn's disease

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World Journal of Gastroenterology 2024年第12期30卷 1651-1654页

作者： Alessandro Boscarelli Matteo Bramuzzo Department of Pediatric Surgery and Urology Institute for Maternal and Child Health-IRCCS“Burlo Garofolo”Trieste 34137Italy Department of Gastrointestinal Endoscopy and Nutrition Institute for Maternal and Child Health-IRCCS"Burlo Garofolo"Trieste 34137Italy

Crohn’s disease(CD)is a chronic inflammatory disease of the digestive *** incidence of pediatric CD is increasing and is currently 2.5-11.4 per 100000 ***,approximately 25%of children with CD develop stricturing CD(SCD)that requires *** stricturing diseases refractory to pharmacological management frequently require non-pharmacological ***-pharmacological therapeutic strategies include endoscopic balloon dilatation,stricturoplasty,and surgical resection of the strictured ***,strictures tend to recur postoperatively regardless of treatment *** lifetime risk of surgery in patients with childhood SCD remains at 50%-90%.Thus,new and emerging strategies,advanced diagnostic tools,and minimally invasive approaches are under investigation to improve the outcomes and overall quality of life of pediatric patients with SCD.

关键词： Stricturing Crohn’s disease Pediatrics Insights Future perspectives

Association between orofacial granulomatosis and Crohn's disease in children:Systematic review

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World Journal of Gastroenterology 2014年第23期20卷 7497-7504页

作者： Marzia Lazzerini Matteo Bramuzzo Alessro Ventura Institute for Maternal and Child Health IRCCS Burlo Garofolo34137 TriesteItaly University of Trieste 34137 TriesteItaly

AIM: To review pediatric cases of orofacial granulomatosis (OFG), report disease characteristics, and explore the association between OFG and Crohn’s disease.

关键词： Orofacial granulomatosis Melkersson-Rosenthal syndrome Cheilitis granulomatosa Crohn’ s disease Children Systematic review

Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease

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World Journal of Gastroenterology 2016年第41期22卷 9117-9126页

作者： Claudia Loganes Alessia Pin Samuele Naviglio Martina Girardelli Anna Monica Bianco Stefano Martelossi Alberto Tommasini Elisa Piscianz Department of Medicine Surgery and Health Sciences University of Trieste Department of Pediatrics Institute for Maternal and Child Health IRCCS "Burlo Garofolo"

AIM To evaluate the inflammatory state in Crohn's disease(CD) patients and correlate it with genetic background and microbial *** By means of flow cytometry, production of tumor necrosis factor-alpha(TNF-α) was measured in peripheral blood monocytes from patients suffering from CD, ulcerative colitis(UC) and in healthy subjects after stimulation of the NOD2 and TLR pathways. CD patients were genotyped for the three most common NOD2 variants(R702W, G908 R and L1007Pfs*2) and basal production of TNF-α was correlated to NOD2 genotype. Also, production of TNF-α was correlated to plasmatic levels of LPS Binding Protein(LBP), soluble(s) CD14 and to the activity state of the *** The patients with CD were characterized by a significantly higher monocyte basal expression of TNF-αcompared with healthy subjects and UC patients, and after stimulation with Pam3CSK4(ligand of TLR2/1) and MDP-L18(ligand of NOD2) this difference was maintained, while other microbial stimuli(LPS, ligand of TLR4 and Poly I:C, ligand of TLR3) induced massive activation in CD monocytes as well as in UC and in healthy control cells. There was no significant difference in the production of TNF- α between patients who carried CD-associated heterozygous or homozygous variants in NOD2 and patients with wild type NOD2 genotype. Although serum LBP levels have been shown to correlate positively with the state of activity of the disease, TNF-α production did not show a clear correlation with either LBP or s CD14 levels in plasma. Moreover, no clear correlation was seen between TNF-α production and activity indices in either CD or *** Peripheral monocytes from CD express higher basal and stimulated TNF-α than controls, regardless of NOD2 genotype and without a clear correlation with disease activity.

关键词： Crohn’s disease Ulcerative colitis Tumor necrosis factor-α NOD2 variants Toll like receptors Dysbiosis Activity index LPS-binding protein

Ex vivo response to mucosal bacteria and muramyl dipeptide in inflammatory bowel disease

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World Journal of Gastroenterology 2016年第44期22卷 9734-9743页

作者： Claudia Loganes Erica Valencic Alessia Pin Elisa Marini Stefano Martelossi Samuele Naviglio Luigina De Leo Tarcisio Not Lorenzo Monasta Alberto Tommasini Annalisa Marcuzzi Department of Medicine Surgery and Health Sciences University of Trieste Strada di Fiume Institute for Maternal and Child Health - irccs "burlo garofolo"

AIM To evaluate how mucosal bacteria impact on the spontaneous and muramyl dipeptide(MDP)-induced inflammation in Crohn's disease(CD) and ulcerative colitis(UC).METHODS Colonic mucosal biopsies were collected from children with active or remissive CD, UC and controls. Two tissue samples were taken from inflamed mucosal segments(in patients with active disease) or from noninflamed mucosa [in patients in remission or in healthy controls(HC)]. Experiments were performed in the presence or absence of antibiotics, to assess whether the disease-associated microbiota can modulate the cytokine response ex vivo. For this purpose, each specimen was half-cut to compare spontaneous and MDP-induced inflammation in the presence of live bacteria(LB) or antibiotics. After 24 h of culture, an array of 17 cytokines was assessed in supernatants. Statistical analyses were performed to find significant differences in single cytokines or in patterns of cytokine response in the different groups. RESULTS We demonstrated that subjects with CD display a spontaneous production of inflammatory cytokines including granulocyte-colony stimulating factor(G-CSF), interleukin(IL) 6, IL8, IL10 and IL12, that was not significantly influenced by the addition of antibiotics. UC specimens also displayed a trend of increased spontaneous secretion of several cytokines, which however was not significant due to broader variability among patients. After the addition of antibiotics, spontaneous IL8 secretion was significantly higher in UC than in controls. In HC, a trend towards the weakening of spontaneous IL8 production was observed in the presence of live mucosal bacteria with respect to the presence of antibiotics. In contrast, in the presence of LB UC showed an increasing trend of spontaneous IL8 production, while MDP stimulation resulted in lower IL8 production in the presence of antibiotics. We also showed that subjects with CD seem to have a lowered production of IL8 in response to MDP in the presence

关键词： Gut-microbiota Crohn’s disease Ulcerative colitis Cytokines Inflammation

Meckel's diverticulum masked by a long period of intermittent recurrent subocclusive episodes

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World Journal of Gastroenterology 2009年第22期15卷 2809-2811页

作者： Daniela Codrich Andrea Taddio Jurgen Schleef Alessandro Ventura Federico Marchetti Department of Pediatric Surgery Institute of Child HealthIRCCS Burlo Garofolo Department of Pediatrics Institute of Child Health IRCCS Burlo Garofolo

Meckel's diverticulum(MD) is the most frequent congenital abnormality of the small bowel and it is often diff icult to *** is usually asymptomatic but approximately 4% are symptomatic with complications such as bleeding,intestinal obstruction,and *** authors report a case of a 7-year-old boy with a one-year history of recurrent periumbilical colicky pain with associated alimentary vomiting,symptoms erroneously related to a cyclic vomiting syndrome but not to *** clinical features and the differential diagnostic methods employed for diagnosis of MD are discussed.

关键词： Meckel diverticulum Abdominal pain Recurrent subocclusive episodes, Diagnostic imaging

Glans ischemia after circumcision in children:Two case reports

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World Journal of Clinical Pediatrics 2021年第4期10卷 79-83页

作者： Daniela Codrich Alessandro Boscarelli Alessia Cerrina Maria-Grazia Scarpa Marianna Iaquinto Damiana Olenik Edoardo Guida Jurgen Schleef Department of Pediatric Surgery and Urology Institute for maternal and child health-IRCCS Burlo GarofoloTrieste 34137Italy

Circumcision refers to the removal of the skin covering the tip of the penis and is one of the most common surgical procedures performed in *** though circumcision is a well-standardized operation,several minor and major complications may be experienced by paediatric *** ischemia(GI)has been widely reported in the paediatric literature as a complication following ***,etiopathogenesis of GI is not well defined and management guidelines are *** SUMMARY We describe our experience with this rare and scary complication using subcutaneous enoxaparin alone or in association with a topical *** Hypothetical causes and different management strategies are discussed.

关键词： Circumcision Children Complications Glans penis Ischemia Case report

Sedation and analgesia in children with cerebral palsy:a narrative review

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World Journal of Pediatrics 2019年第5期15卷 432-440页

作者： Ingrid Rabach Francesca Peri Marta Minute Emanuela Aru Marianna Lucafò Alberto Di Mascio Giorgio Cozzi Egidio Barbi Institute for Maternal and Child Health IRCCS'Burlo Garofolo'Via dell'Istria 65/134100 TriesteItaly University of Trieste TriesteItaly Department of Medicine Surgery and Health SciencesUniversity of TriesteTriesteItaly

Background Patients with cognitive impairment due to cerebral palsy experience pain more often than healthy peers and frequently require diagnostic and therapeutic painful *** and procedural sedation outside the operating room are often required,but they may not adequately be provided because of the inability to accurately recognize and classify the state of pain and for the perceived higher risk of *** sources We reviewed the available literature to highlight the specific risk factors and area of criticism,that should be further *** searched the Cochrane Library,Medline,Pubmed from 1987 to September 2018 using key words such as'cerebral palsy and children and pain'or'sedation and cerebral palsy and children'.Results While different pain scales are useful in recognizing pain expressions,anxiety scales are not ***,studies on non-pharmacological techniques do not always have comparable *** risk factors,from anatomic abnormalities to liver and kidney functioning,should be kept in mind before proceeding with *** Large trials are needed to assess the impact of non-pharmacological techniques and to evaluate which pain control strategy(pharmacological and non-pharmacological)should be used in different settings.

关键词： Analgesia Cerebral palsy Intellectual disability Pain Procedural sedation