cystic fibrosis symptom progression survey [CF-SPS] in arabic: a tool for monitoring patients' symptoms

Our study aimed to develop a survey that could be used by nurses during regular cystic fibrosis [CF] clinic visits, providing clinicians with a standardized means of longitudinally assessing and monitoring symptom progression in their patients. In addition, the use of this survey would provide an opportunity for patient engagement and relationship building, thereby enhancing patient education and improving adherence to treatment. This is the first such survey designed specifically for use in Arab populations. The Cystic Fibrosis Symptom Progression Survey [CF-SPS] was developed using previously published patient reported outcomes relating to pulmonary exacerbations in CF. It contains 10 items that provide a patient-focused account of symptoms. The survey was translated into Arabic and was completed by 12 patients on 139 occasions over 22 months. The psychometric properties of the survey were evaluated, as was the relationship between the survey findings and other known clinical measures of health status in CF. The CF-SPS performs well as a psychometrically valid clinical tool, with good internal consistency as determined by Cronbach's alpha analysis. Our results suggest that the CF-SPS is able to identify significant declines in health status in line with routine clinical patient assessment [chest sounds, body mass index and admissions]. As such it is a useful tool that can support clinical decision making in the care of Arabic speaking CF patients. We recommend the CF-SPSa [Arabic version] as a valid tool for the longitudinal monitoring of symptom progression in CF in Arabic speaking populations

Defining a mutational panel and predicting the prevalence of cystic fibrosis in Oman

Cystic fibrosis transmembrane conductance regulator [CFTR] mutations form distinct mutational panels in different populations and subgroups. The frequency of cystic fibrosis [CF] mutations and prevalence are unknown in Oman. This study aimed to elucidate the mutational panel and prevalence of CF for the North Al Batinah [NAB] region in Oman and to estimate the national prevalence of CF based on the carrier screening of unrelated volunteers. The study included retrospective and prospective analysies of CF cases in the NAB region for 1998-2012. Genetic analysis of disease-causing mutations was conducted by screening of the entire coding sequence and exon-intron borders. The obtained mutational panel was used for the carrier screening of 408 alleles of unrelated and unaffected Omani individuals. S549R and F508del were the major mutations, accounting for 89% of mutations in the patient population. Two private mutations, c.1733-1734delTA and c.1175T>G, were identified in the patient cohort. Two carriers, one for F508del and another for S549R, were identified by screening of the volunteer cohort, resulting in a predicted prevalence for Oman of 1 in 8,264. The estimated carrier frequency of CF in Oman was 1 in 94. The carrier frequency in the NAB region was 3.9 times higher. The mutational panel for the NAB region and the high proportion of S549R mutations emphasises the need for specific screening for CF in Oman. The different distribution of allele frequencies suggests a spatial clustering of CF in the NAB region