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Diagnosis of gluten related disorders: Celiac disease, wheat allergy and non-celiac gluten sensitivity

World Journal of Gastroenterology 2015年第23期21卷 7110-7119页

作者： Luca Elli Federica Branchi Carolina Tomba Danilo Villalta Lorenzo Norsa francesca ferretti Leda Roncoroni Maria Teresa Bardella Center for the Prevention and Diagnosis of Celiac Disease Gastroenterology and Endoscopy Unit Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Department of Pathophysiology and Transplantation Università degli Studi di Milano Allergology and Clinical Immunology Unit AOSanta Maria degli Angeli Department of Biomedical Surgical and Dental Sciences Università degli Studi di Milano

Cereal crops and cereal consumption have had a vital role in Mankind's history. In the recent years gluten ingestion has been linked with a range of clinical disorders. Gluten-related disorders have gradually emerged as an epidemiologically relevant phenomenon with an estimated global prevalence around 5%. Celiac disease, wheat allergy and non-celiac gluten sensitivity represent different gluten-related disorders. Similar clinical manifestations can be observed in these disorders, yet there are peculiar pathogenetic pathways involved in their development. Celiac disease and wheat allergy have been extensively studied, while non-celiac gluten sensitivity is a relatively novel clinical entity, believed to be closely related to other gastrointestinal functional syndromes. The diagnosis of celiac disease and wheat allergy is based on a combination of findings from the patient's clinical history and specific tests, including serology and duodenal biopsies in case of celiac disease, or laboratory and functional assays for wheat allergy. On the other hand, non-celiac gluten sensitivity is still mainly a diagnosis of exclusion, in the absence of clear-cut diagnostic criteria. A multimodal pragmatic approach combining findings from the clinical history, symptoms, serological and histological tests is required in order to reach an accurate diagnosis. A thorough knowledge of the differences and overlap in clinical presentation among gluten-related disorders, and between them and other gastrointestinal disorders, will help clinicians in the process of differential diagnosis.

关键词： Celiac disease Gluten sensitivity Wheatsensitivity Allergy Gluten-free diet

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Liver-side of inflammatory bowel diseases:Hepatobiliary and druginduced disorders

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World Journal of Hepatology 2021年第12期13卷 1828-1849页

作者： Stefano Mazza Sara Soro Maria Chiara Verga Biagio Elvo francesca ferretti Fabrizio Cereatti Andrea Drago Roberto Grassia Gastroenterology and Digestive Endoscopy Unit ASST CremonaCremona 26100Italy Gastroenterology Unit ASST Fatebenefratelli-SaccoDepartment of Biomedical and Clinical Sciences(DIBIC)Universitàdegli Studi di MilanoMilan 20157Italy

Hepatobiliary disorders are among the most common extraintestinal manifestations in inflammatory bowel diseases(IBD),both in Crohn’s disease and ulcerative colitis(UC),and therefore represent a diagnostic *** conditions include primary sclerosing cholangitis(PSC)as the main form,variant forms of PSC(namely small-duct PSC,PSC-autoimmune hepatitis overlap syndrome and IgG4-related sclerosing cholangitis)and granulomatous *** is by far the most common,presenting in up to 8%of IBD patients,more frequently in *** genetic foci have been identified,but environmental factors are preponderant on disease *** course of the two diseases is typically *** diagnosis is based mostly on typical radiological findings and exclusion of secondary *** of cholangiocarcinoma is significantly increased in PSC,as well as the risk of colorectal cancer in patients with PSC and IBD-related *** disease-modifying drugs are approved to ***,PSC management is directed against symptoms and complications and includes medical therapies for pruritus,endoscopic treatment of biliary stenosis and liver transplant for end-stage liver *** nonimmune-mediated hepatobiliary disorders are gallstone disease,whose incidence is higher in IBD and reported in up to one third of IBD patients,non-alcoholic fatty liver disease,pyogenic liver abscess and portal vein *** liver injury(DILI)is an important issue in IBD,since most IBD therapies may cause liver toxicity;however,the incidence of serious adverse events is *** and methotrexate are the most associated with DILI,while the risk related to anti-tumor necrosis factor-αand anti-integrins is *** on hepatotoxicity of newer drugs approved for IBD,like anti-interleukin 12/23 and tofacitinib,are still scarce,but the evidence from other rheumatic diseases is *** B reactivation during immunosuppressive therapy is a major

关键词： Inflammatory bowel diseases Hepatobiliary disorders Primary sclerosing cholangitis Drug-induced liver injury Biological drugs Viral hepatitis

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Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype:A case report

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World Journal of Medical Genetics 2023年第2期11卷 21-27页

作者： Roberto Franceschi francesca Rivieri Antonio Novelli Daniele ferretti Adriano Anesi Massimo Soffiati Giulia Porretti Evelina Maines Mafalda Mucciolo Giorgio Radetti Department of Pediatrics S.Chiara Hospital of TrentoAPSSTrento 38122Italy Genetic Unit Laboratory of Clinical PathologyDepartment of LaboratoriesAPSSTrento 38122Italy Laboratory of Medical Genetics Ospedale Pediatrico Bambino GesùRome 00165Italy Human Genetics Laboratory Ospedale Pediatrico Bambino GesùRome 00165Italy Department of Pediatrics S.Chiara General HospitalAPSSTrento 38122Italy Department of Radiology S.Chiara General HospitalAPSSTrento 38122Italy Department of Pediatrics General Hospital BolzanoMarienklinikBolzano 39100Italy

BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 *** mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG *** describe for the first time the mosaicism of a novel variant in a child with a mild KBG *** SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental *** hypoplasia and central hypothyroidism were also *** next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also *** patient started levothyroxine and growth hormone *** The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.

关键词： ANKRD11 KBG Mosaic HESX1 Child Case report

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小胶质细胞控制成年小鼠海马中的谷氨酸能突触

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神经损伤与功能重建 2021年第10期16卷 F0003-F0003页

作者： Bernadette Basilico Laura Ferrucci Patrizia Ratano Maria T Golia Alfonso Grimaldi Maria Rosito Valentina ferretti Ingrid Reverte Caterina Sanchini Maria C Marrone Maria Giubettini Valeria De Turris Debora Salerno Stefano Garofalo Marie-Kim St-Pierre Micael Carrier Massimiliano Renzi francesca Pagani Brijesh Modi Marcello Raspa Ferdinando Scavizzi Cornelius T Gross Silvia Marinelli Marie-Ève Tremblay Daniele Caprioli Laura Maggi Cristina Limatola Silvia Di Angelantonio Davide Ragozzino Department of Physiology and Pharmacology Sapienza University of RomeRomeItaly. Neurophysiology and Neuropharmacology Inflammaging Unit IRCCS NeuromedMediterranean Neurological InstitutePozzilliISItaly. Center for Life Nano-and Neuro-science Istituto Italiano di TecnologiaRomeItaly. Dipartimento di Biologia e Biotecnologie“Charles Darwin” Sapienza University of RomeRomeItaly. Santa Lucia Foundation(IRCCS Fondazione Santa Lucia) RomeItaly. European Brain Research Institute(EBRI)‘Rita Levi-Montalcini’ RomeItaly. CrestOptics S.p.A RomeItaly. Centre de Recherche du CHU de Québec Axe Neurosciences QuébecQuebec CityCanada. Département de Médecine Moléculaire UniversitéLaval QuébecQuebec CityCanada.1 National Research Council Institute of Biochemistry and Cell Biology(CNR-IBBC/EMMA/Infrafrontier/IMPC)International Campus“A.Buzzati-Traverso”Monterotondo(Rome)Italy.1 Epigenetics and Neurobiology Unit European Molecular Biology Laboratory(EMBL)MonterotondoItaly.1 Division of Medical Sciences University of VictoriaVictoriaCanada.1 Department of Physiology and Pharmacology Sapienza UniversityLaboratory affiliated to Istituto Pasteur ItaliaRomeItaly.

小胶质细胞是调节大脑突触发育和可塑性的重要细胞类型,但其影响突触的正常功能的机制尚不清楚。在本研究中,我们通过PLX5622造成小胶质细胞耗竭,并观察其对成年野生型小鼠海马CA3-CA1突触的影响。在小胶质细胞耗竭后,与树突棘密度降低... 详细信息

小胶质细胞是调节大脑突触发育和可塑性的重要细胞类型,但其影响突触的正常功能的机制尚不清楚。在本研究中,我们通过PLX5622造成小胶质细胞耗竭,并观察其对成年野生型小鼠海马CA3-CA1突触的影响。在小胶质细胞耗竭后,与树突棘密度降低相关的自发和诱发谷氨酸能活动的减少,出现未成熟突触特征以及突触的可塑性提高。小胶质细胞耗竭的小鼠在新物体识别任务的获取方面表现出缺陷。海马星形胶质细胞出现增生,但并没有神经炎症反应。在Cx3cr1-/-小鼠中,PLX不能导致海马出现上述改变。这说明CX3CL1/CX3CR1轴在小胶质细胞对突触功能的控制中有重要作用。PLX5622停用后,小胶质细胞的重新增殖,海马突触恢复,小鼠的学习功能也出现恢复。综上所述,小胶质细胞对维持成人大脑的突触的正常功能用重要的作用,去除小胶质细胞会导致谷氨酸能突触组织和活动的可逆变化。

关键词：谷氨酸能传递海马体学习小胶质细胞神经元-小胶质细胞相互作用突触

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