ABSTRACT
BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disease caused by variants of CFTR gene. Over 2000 variants have been identified, and new drugs called CFTR modulators have been developed to target specific defects in the CFTR protein. However, these drugs are only suitable for patients with certain variants of CFTR, and eligibility rates vary depending on race and geographical region. This study aimed to reveal the detailed genotype and clinical characteristics of people with CF (pwCF) at our center in Turkey, a developing country, who are not eligible for CFTR modulators. METHODS: A total of 445 pwCF followed up at Marmara University were reviewed retrospectively. Variants of the patients ineligible to CFTR modulators were classified based on American College of Medical Genetics guidelines, CFTR classification, the change in the encoded protein, and the variant type. RESULTS: The study revealed that 139 (31.2%) patients weren't eligible for CFTR modulators. There were 60 different variants in the 276 alleles, as two were missing. The majority of patients had missense or nonsense variants, and that the most common variant was c.1545_1546del, which can be said unique to this geography. CONCLUSION: The study highlights the importance of detecting the variants of ineligible patients in detail to guide future approaches for more targeted and effective interventions in CF care. Testing the effectiveness of CFTR modulators for rare or newly occurring variants is crucial to ensure equal access for pwCF to these therapies from different racial backgrounds and ethnic minorities.
ABSTRACT
The goal of this study is to investigate whether or not Turkish has a particular preference in ambiguity resolution of relative clause attachment when two possible NPs are available as in "Someone shot [NP1 the servant] of [NP2 the actress] [RC who was on the balcony]Ë®. The relevant literature has showed that RC attachment preferences-whether NP1 or NP2-vary across languages, which results in contradictory evidence if some universal processing principle is assumed. Turkish differs typologically from English and other European languages in the construction of RC using complex "genitive-possessor" construction. In order to make a valid cross-linguistic comparison it is therefore of particular importance to carefully control potential extraneous factors which might obstruct true attachment preferences-if they exist. The present study, which controls various confounding factors, reveals that both syntactic and non-syntactic factors should be taken into consideration when constructing the stimulus sentences for testing attachment ambiguity resolution. Specifically, we propose that the semantic relations (e.g. part-whole relations) between the noun phrases of the genitive-possessive construction and the semantic associations with the proximal as well as with the distal predicate play a key role in the attachment preferences of monolingual Turkish native speakers in this type of ambiguous sentences. When these extraneous factors were controlled, no preference was observed.
