Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor.

Cystic fibrosis (CF) is a genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The 2789+5G>A CFTR mutation is a quite frequent defect causing an aberrant splicing and a non-functional CFTR protein. Here we used a CRISPR adenine base editing (ABE) approach to correct the mutation in the absence of DNA double-strand breaks (DSB).

Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids.

Introduction: Cystic fibrosis (CF) is a severe monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator () gene. Several types of CFTR modulators (correctors/potentiators) have been developed to overcome protein dysfunction associated with these mutations. CFTR modulator therapy is now available for the major CF-causing mutations; however, 10% of people with CF remain without causal treatments.

Improvement of transfusion practice and reduction in red blood cell utilization in Belgian hospitals: Results of a national survey and benchmarking.

Background And Objectives: Belgian health authorities launched a national platform in 2011 to improve the quality of transfusion practices and blood use in Belgian hospitals. No data were available about the quality of hospital transfusion practice at the national level.

Materials And Methods: Three consecutive national surveys (2012, 2014 and 2016) were performed in all 111 Belgian hospitals to assess the degree of implementation of standards in four process domains related to red blood cell (RBC) transfusion: general quality aspects, ordering of RBC, electronic traceability and reporting of adverse events.

Phenotyping of Rare Mutations Reveals Distinct Trafficking and Functional Defects.

The most common mutation, F508del, presents with multiple cellular defects. However, the possible multiple defects caused by many rarer mutations are not well studied. We investigated four rare mutations E60K, G85E, E92K and A455E against well-characterized mutations, F508del and G551D, and their responses to corrector VX-809 and/or potentiator VX-770.

Ocular toxocariasis in a 36-year-old patient: a case report.

A 36-year-old female presented wit unilateral papillitis, followed by the development of a posterior pole granuloma. A positive ELISA-test for toxocara canis with a titer of 1/200 established the diagnosis. The patient was consecutively treated by pars plana vitrectomy and oral corticosteroids.