% 0期刊文章% Musumeci奥林匹亚%吉安卡洛拉马卡报%一个董事长Pagliardini % M位咨询专家% Giacomo Comi凯撒Danesino % % Elena Pegoraro %一个Giovanni Antonini %詹尼·Marrosu %罗科Liguori说道%一个Maurizio Moggio卢西亚20世纪% %一个塞布丽娜Ravaglia罗伯托·马萨% %一个Corrado Angelini Antonio Di Muzio % %诺阿Filosto % Paola Tonin %一个朱塞佩•迪人工% Serenella Servidei %一个iziana Mongini Gabriele西西里岛舞蹈% %安东尼奥Toscano % T寻找早期诊断在疾病晚期发病筛高危人口:大步走的一项研究(P3.015) % D J神经病学2014% % P P3.015 % V 82% N 10补充% X目的:多中心观察研究,旨在执行晚发性疾病筛(LOPD)的早期诊断和评估流行大高危人群。首页背景:筛疾病是一种溶酶体疾病由棉酚不足引起的。LOPD特征是进行性肌无力和/或呼吸衰竭,但有时,只有无症状hyperCKemia。作为一个肌肉退化性疾病,有人建议,及时的早期诊断可能是更有用的ERT开始和最大化它的功效。设计/方法17个意大利神经肌肉中心参与大步走(晚发性筛早期诊断)的研究。入选标准是:a)蠅5岁,b)持久hyperCKemia, c)在上和/或下四肢肌无力(LGMW)。在所有患者中,棉酚活动最初是由荧光测量干血现货(DBS)上和串联质谱分析方法。星展银行重新测试被执行的病人产生积极的在第一次试验。棉酚缺陷必须确认第二个生化测定淋巴细胞,成纤维细胞或肌肉组织,由棉酚基因分子分析。结果:14-month-period,我们研究了1051例(男性60%,女性40%),连续17个神经肌肉中心承认:52%的病例显示无症状hyperCKemia,只有LGMW hyperCKemia和LGMW 40%,而8%。 31 positive samples (2,9%) were detected by first DBS screening. After retest, GAA deficiency was identified only in 19 cases; biochemical/molecular studies confirmed LOPD diagnosis in 17 cases. In these patients, the median time from the onset of symptoms/signs to the diagnosis was 7,7 years. Among those patients, 35% showed an asymptomatic hyperCKemia, 59% hyperCKemia and LGMW whereas 6% manifested only LGMW. Conclusions: LOPED study revealed 17 LOPD patients in the considered high-risk population (1,6%). Median time at diagnosis was 7,7 yrs; it is noteworthy that 35% of patients with asymptomatic hyperCKemia were early identified. This study suggests that GAA activity should be largely checked by DBS in patients with hyperCKemia and/or LGMW as a first step investigation.Disclosure: Dr. Musumeci has nothing to disclose. Dr. la Marca has nothing to disclose. Dr. Pagliardini has nothing to disclose. Dr. Spada has nothing to disclose. Dr. Danesino has received personal compensation for activities with Genzyme Corp. Dr. Comi has nothing to disclose. Dr. Pegoraro has received personal compensation for activities with BioMarin Pharmaceutical Inc., and MEDA Pharmaceuticals Inc. Dr. Antonini has nothing to disclose. Dr. Marrosu has nothing to disclose. Dr. Liguori has nothing to disclose. Dr. Morandi has nothing to disclose. Dr. Moggio has nothing to disclose. Dr. Massa has nothing to disclose. Dr. Ravaglia has nothing to disclose. Dr. Di Muzio has nothing to disclose. Dr. Angelini has received personal compensation for activities with Genzyme Corporation as an advisory board member. Dr. Filosto has nothing to disclose. Dr. Tonin has nothing to disclose. Dr. Di Iorio has nothing to disclose. Dr. Servidei has nothing to disclose. Dr. Siciliano has nothing to disclose. Dr. Mongini has received personal compensation for activities with Telethon Italy, and Genzyme Corporation. Dr. Mongini has received research support from AIFA (Italian Government; Drug Agency) and Telethon Italy. Dr. Toscano has nothing to disclose.Tuesday, April 29 2014, 3:00 pm-6:30 pm %U