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| 1 | Genetics of inflammatory bowel disease from multifactorial to monogenic forms显示文摘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. | Anna Monica Bianco Martina Girardelli Alberto Tommasini | 2015 | World Journal of Gastroenterology2015，21，43： | 13 |
| 2 | Failure of interferon-γ pre-treated mesenchymal stem cell treatment in a patient with crohn's disease显示文摘Mesenchymal stem cells(MSC) are cells of stromal origin which exhibit unlimited self-renewal capacity and pluripotency in vitro.It has recently been observed that MSC may also exert a profound immunosuppressive and anti-inflammatory effect both in vitro and in vivo with consequent potential use in autoimmune disorders.We present the case of a patient suffering from childhood-onset, multidrug resistant and steroiddependent Crohn's disease who underwent systemic infusions of MSC, which led to a temporary reduction in CCR4, CCR7 and CXCR4 expression by T-cells, and a temporary decrease in switched memory B-cells, In addition, following MSC infusion, lower doses of steroids were needed to inhibit proliferation of the patient's peripheral blood mononuclear cells.Despite these changes, no significant clinical benefit was observed, and the patient required rescue therapy with infliximab and subsequent autologous hematopoietic stem cell transplantation.The results of biological and in vitro observations after MSC use and the clinical effects of infusion are discussed, and a brief description is provided of previous data on MSC-based therapy in autoimmune disorders. | Andrea Taddio Alberto Tommasini Erica Valencic Ettore Biagi Giuliana Decorti Sara De Iudicibus Eva Cuzzoni Giuseppe Gaipa Raffaela Badolato Alberto Prandini Andrea Biondi Alessandro Ventura | 2015 | World Journal of Gastroenterology2015，21，14： | 2 |
| 3 | Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?显示文摘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. | Elisa Piscianz Liza Vecchi Brumatti Alberto Tommasini Annalisa Marcuzzi | 2019 | Neural Regeneration Research2019，14，4： | 2 |
| 4 | Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center显示文摘AIM To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever(UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help predicting the response to treatment and the outcome at follow-up.METHODS Clinical and therapeutic information of patients with recurrent fever who presented at a single pediatric rheumatology center from January 2006 through April 2016 were retrospectively collected. Patients with a clinical suspicion of hereditary periodic fever(HPF) syndrome and patients with clinical picture of periodic fever, aphthae, pharingitis, adenitis(PFAPA) who were refractory to tonsillectomy underwent molecular analysis of five HPF-related genes: MEFV(NM_000243.2), MVK(NM_000431.3), TNFRSF1 A(NM_001065.3), NLRP3(NM_001079821.2), NLRP12(NM_001277126.1). All patients who had a negative genetic result were defined as UPF and further investigated. PRINTO-Eurofever score for clinical diagnosis of HPF was calculated in all cases. RESULTS Of the 221 patients evaluated for periodic fever, twelve subjects with a clinical picture of PFAPA who were refractory to tonsillectomy and 22 subjects with a clinical suspicion of HPF underwent genetic analysis. Twenty-three patients(10.4%) resulted negative and were classified as UPF. The median age at presentation of patients with UPF was 9.5 mo(IQR 4-24). Patients with UPF had a higher frequency of aphthae(52.2% vs 0%, P = 0.0026) and musculoskeletal pain(65.2% vs 18.2%, P = 0.0255) than patients with genetic confirmed HPF. Also, patients with UPF had a higher frequency of aphthous stomatitis(52.2% vs 10.7%, P < 0.0001), musculoskeletal pain(65.2% vs 8,0%, P < 0.0001), and abdominal pain(52.2% vs 4.8%, P < 0.0001) and a lower frequency of pharyngitis(56.6% vs 81.3%, P = 0.0127) compared with typical PFAPA in the same cohort. Twenty-one of 23 patients with UPF(91.3%) received steroids, being effective in 16; 13(56.2%) were given colchicine, which was effective in 6. Symptoms resolution occurred in 2 patients with UPF at last follow-up. Classification according to the PRINTOEurofever score did not correlate with treatment response and prognosis. CONCLUSION UPF is not a rare diagnosis among patients with periodic fever. Clinical presentation place UPF half way on a clinical spectrum between PFAPA and HPF. The PRINTOEurofever score is not useful to predict clinical outcome and treatment response in these patients. | Silvia De Pauli Sara Lega Serena Pastore Domenico Leonardo Grasso Anna Monica Rosaria Bianco Giovanni Maria Severini Alberto Tommasini Andrea Taddio | 2018 | World Journal of Clinical Pediatrics2018，7，1： | 2 |
| 5 | Heterozygous nucleotide-binding oligomerization domain-2 mutations affect monocyte maturation in Crohn's disease显示文摘瞄准:在 Crohn 的疾病(CD ) 调查单核白血球的函数病人并且相关这与联系疾病的核苷酸绑定 oligomerization domain-2 (NOD2 ) 基因变体。方法:从 47 个连续地提交的 CD 病人和 9 健康供血者的单核白血球与 interleukin (IL ) 是有教养的 -4 和 granulocyte 巨噬细胞刺激殖民地的因素(GM-CSF ) ,并且与脂肪的多糖(LPS ) 或 muramyldipeptide (MDP ) 刺激了, NOD2 的通常认为的 ligand。结果:我们发现从 CD 病人的单核白血球区分了在试管内到成熟树枝状的房间(DC ) ,由免疫显型和形态学决定了。NOD2 遗传型在所有题目被估计,并且我们观察到在 NOD2 的不成熟、刺激 LPS 的 DC 上的高 CD86 表示变异 CD 病人,作为与 wtNOD2 CD 病人和控制相比。由对比,导致到成熟, MDP 源于变异 NOD2 的题目的 DC 的 CD86 表示层次比得上正常题目的那些。在耐心房间的文化的 IL-12p70 的数量与 MDP 比在在 LPS 治疗,然而并非术后疗法以后的控制大。结论:我们的结果建议在 NOD2 基因与变化从病人获得的 DC 显示高 CD86 表示描绘的激活的显型,但是当与终端相比区别分阶段执行时,有减少的回答到 MDP。我们推测单核白血球的改变的区别可能导致在发炎和单核白血球的杀死的能力之间的不平衡,并且可能与 CD 的致病相关。 | Marilena Granzotto Elisa Fabbro Massimo Maschio Stefano Martelossi Sara Quaglia Alberto Tommasini Gianni Presani Alessandro Ventura | 2007 | World Journal of Gastroenterology2007，13，46： | 2 |
| 6 | Characterization of glutathione uptake in broad bean leaf protoplasts 显示文摘 | Jamai A Tommasini R Martinoia E | 1996 | Plant Physiol1996，111，： | 1 |
| 7 | Study of flavonoids/beta-cyclodextrins inclusion complexes by NMR, FT-IR, DSC, X-RAY investigation显示文摘 | Tommasini S Raneri D | 2002 | J Pharm Biomed Anal2002，29，6： | 1 |
| 8 | A Computational Study of the Raman Spectra of Large Polycyclic Aromatic Hydrocarbons:Toward Molecular- ly Defined Subunits of Graphite 显示文摘 | NEGRI F CASTIGLIONI C TOMMASINI M | 2002 | Journal Physics and Chemistry A2002，106，： | 1 |
| 9 | The rutin/fl- cyclodextrin interactions in fully aqueous solution:Spec- troscopic studies and biological assays 显示文摘 | Calabr5 M L Tommasini S Donato P | 2005 | J Pharm Bi- omed Anal2005，36，： | 1 |
| 10 | Multi-wavelength Raman response of disordered graphitic materials : models and simulations 显示文摘 | CASTIGLIONI C DI DONATO E TOMMASINI M | 2003 | Syn- thetic Metals2003，139，： | 1 |
| 11 | Essential amino acids increase the growth and alkaline phosphatase activity in osteoblasts cultured in vitro 显示文摘 | Conconi MT Tommasini M Muratori E | 2001 | Il Farmaco2001，56，11： | 1 |
| 12 | Hepatocellular carcinoma in Italian patients with cirrhosis显示文摘 | Colombo M de Franchis R Del Ninno E Sangiovanni A De Fazio C Tommasini M | | New England Journal of Medicine0，，： | 1 |
| 13 | Usefulness of Screening Program for Celiac Disease in Autoimmune Thyroiditis显示文摘 | Irene Berti Chiara Trevisiol Alberto Tommasini Angelo Città Elena Neri Onelio Geatti Alberto Giammarini Alessandro Ventura Tarcisio Not | 2000 | Digestive Diseases and Sciences2000，，2： | 1 |
| 14 | J Pharm Biomed Anal显示文摘 | Stancanelli R Mazzaglia A Tommasini S | 2007 | 44: 980-9842007，44，： | 1 |
| 15 | In-place updating of path metrics in Viterbi decoders显示文摘 | Biver M Kaeslin H Tommasini C | 1989 | IEEE J Sol Sta Circ1989，24，4： | 1 |
| 16 | Im- provemem in solubility and dissolution rate of flavonoids by complexation with fl-cyclodextrin 显示文摘 | TOMMASINI S RANERI D FICARRA R | 2004 | Journal of Pharmaceutical and Biomedical Analysis2004，35，2： | 1 |
| 17 | Improving feature tracking with robust statistics显示文摘 | Fusiello A Trucco E Tommasini T V | 1999 | Pattern Analysis & Applications1999，2，4： | 1 |
| 18 | The rutin/β- cyclodextrin interactions in fully aqueous solution:spectroscopic studies and biological assays显示文摘 | Calabro M L Tommasini S Donato P | 2005 | J Pharm Biomed Anal2005，36，5： | 1 |
| 19 | Usefulness of Screening Program for Celiac Disease in Autoimmune Thyroiditis显示文摘 | Irene Berti Chiara Trevisiol Alberto Tommasini Angelo Città Elena Neri Onelio Geatti Alberto Giammarini Alessandro Ventura Tarcisio Not | 2000 | Digestive Diseases and Sciences2000，，2： | 1 |
| 20 | The rutin/beta-cyclodextrin interactions in fully aqueous solution:spectroscopic studies and biological assays显示文摘 | CALABRO M L TOMMASINI S DONATO P | 2005 | Journal of Pharmaceutical and Biomedical Analysis2005，36，5： | 1 |
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