Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.

Background: A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study is to confirm previous results in another patient population, suffering from mucopolysaccharidosis Type II (MPS-II).

Methods: A systematic review and meta-analysis of case reports published by April 2018 was conducted for MPS-II patients treated with enzyme replacement therapy (ERT).

Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.

Background: Case reports might have a prominent role in the rare diseases field, due to the small number of patients affected by one such disease. A previous systematic review regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I (MPS-I) who initiated enzyme replacement therapy (ERT) in adult age has been published. The review included a meta-analysis of 19 clinical studies and the description of eleven case reports.

Adenovirus IVa2 protein plays an important role in transcription from the major late promoter in vivo.

Adenovirus IVa2 protein is essential and multifunctional, with roles in encapsidation and transcriptional activation of the Major Late Promoter (MLP), but the importance of the transcriptional function to viability has not been assessed. To address this question, viral genomes with multiple nonbinding mutations in the MLP downstream elements DE1 and DE2, alone or in combination with nonbinding mutations in the UPE (USF0), were constructed. The results show that DE1/2 and the UPE are functionally redundant, suggesting an important role of IVa2 protein in the activation of the MLP in vivo.

A 40 kDa isoform of the type 5 adenovirus IVa2 protein is sufficient for virus viability.

The multifunctional IVa2 protein is essential for adenovirus replication [J. Virol. 77 (2003) 3586], but the relative importance of the transcriptional and encapsidation functions is unknown.