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Orphan patients with inflammatory bowel disease-when we treat beyond evidence
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作者 Giuseppe Privitera Daniela Pugliese +5 位作者 Loris Riccardo Lopetuso Franco Scaldaferri Alfredo Papa GianLodovico Rapaccini Antonio Gasbarrini Alessandro Armuzzi 《World Journal of Gastroenterology》 SCIE CAS 2021年第47期8047-8057,共11页
Inflammatory bowel disease(IBD)is a chronic condition that requires continuous medical treatment.To date,the medical management of patients with moderatelyto-severely active IBD who develop dependence or resistance to... Inflammatory bowel disease(IBD)is a chronic condition that requires continuous medical treatment.To date,the medical management of patients with moderatelyto-severely active IBD who develop dependence or resistance to corticosteroids is based on immunomodulator drugs.Such therapies are licenced after passing through three phases of randomized controlled trials(RCTs),and are subsequently adopted in clinical practice.However,the real-life population of IBD patients who require these therapies can significantly differ from those included in RCTs.As a matter of fact,there is a number of exclusion criteria–nearly ubiquitous in all RCTs–that prevent the enrolment of specific patients:Chronic refractory pouchitis or isolated proctitis in ulcerative colitis,short-bowel syndrome and stomas in Crohn’s disease,ileorectal anastomosis in both ulcerative colitis and Crohn’s disease,and elderly age are some representative examples.In this frontier article,we aim to give an overview of current literature on this topic,in order to address the main knowledge gaps that need to be filled in the upcoming years. 展开更多
关键词 POUCHITIS PROCTITIS STOMA Short-bowel Ileo-rectal anastomosis BIOLOGICS
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The role of CFTR p.G970D missense mutation in male infertility
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作者 Ivana Antonucci Ilaria Angilletta Federico Anaclerio 《Asian Journal of Andrology》 SCIE CAS CSCD 2023年第1期143-143,共1页
Over the years,accumulating evidence has confirmed the crucial role of cystic fibrosis transmembrane conductance regulator(CFTR)mutations in male infertility caused by congenital bilateral absence of the vas deferens(... Over the years,accumulating evidence has confirmed the crucial role of cystic fibrosis transmembrane conductance regulator(CFTR)mutations in male infertility caused by congenital bilateral absence of the vas deferens(CBAVD),the most common cause of obstructive azoospermia(OA).1,2 The distribution and frequency of CFTR mutations in CBAVD patients vary considerably across countries and ethnic groups,and this suggests the need to develop regional variant panels to significantly improve diagnosis and management of infertile males. 展开更多
关键词 CFTR INFERTILITY DIAGNOSIS
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