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Mycobacterium tuberculosis protein tyrosine phosphatase (PtpA) excludes host vacuolar-H + -ATPase to inhibit phagosome acidification
Although the penetration of the disease is almost 100% in adults, there is good genotype-phenotype correlation in only a very few cases, and such correlation is not usually seen even in the same family or identical twins.5760 The exceptions are cases of complete microdeletion of the NF1 gene of 1.4 Mb (patients with such mutations have a severe form of the disease, with numerous and early-onset neurofibromas, cognitive impairment, dysmorphic features, and a tendency to develop malignancies),58,61 deletions of 3 base pairs in exon 17 affecting a single amino acid, p.Met992del (cases present CaLS and freckling without neurofibromas),60 and mutations in codon 1809 of exon 29, which presents with pulmonary stenosis and short stature (phenotypic characteristics of Noonan syndrome).59 Problems with the genetic study have led some authors to consider routine genetic studies unnecessary in small children who still do not meet the criteria for the disease, as: 1) 95% of children will meet the clinical criteria at the age of 8 years
Disclosure of interest: Edoardo Ricci: nothing to disclose, Giovanni Furlanis: nothing to disclose, Milos Ajevi: nothing to disclose, Emanuele Vincis: nothing to disclose, Gabriele Prandin: nothing to disclose, Laura Mancinelli: nothing to disclose, Federica Palacino: nothing to disclose, Magda Quagliotto: nothing to disclose, Paola Caruso: nothing to disclose, Marcello Naccarato: nothing to disclose, Paolo Manganotti: nothing to disclose E-Posters - ACUTE ISCHEMIC STROKE MANAGEMENT 01.00 - ACUTE ISCHEMIC STROKE MANAGEMENT - 01.02 - ACUTE MANAGEMENT - Thrombolysis or thrombectomy P2081 - ESOC25-1546 ADVANCE CONSENT FOR PARTICIPATION IN ACUTE STROKE TRIALS (ACTION): 6-MONTH RESULTS OF A FEASIBILITY STUDY Michel Shamy 1,2 , Ubong Udoh 1 , Emma Cummings 1 , Rena Patricia Seeger 2 , Brian Dewar 1 , Dar Dowlatshahi 1,2 1 Ottawa Hospital Research Institute, Ottawa, Canada, 2 Department of Medicine, University of Ottawa, Ottawa, Canada Background and Aims: Obtaining consent for participation in acute stroke trials is widely recognized as a significant challenge
