Making a Splash in Cystic Fibrosis Research!

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  • Factors associated with radiologic progression of non‐cystic fibrosis bronchiectasis during long‐term follow‐up
    by Respirology on March 20, 2016 at 11:00 pm

    ConclusionThe radiologic progression of non‐CF bronchiectasis was associated with lower BMI and isolation of P. aeruginosa in respiratory specimens. (Source: Respirology)MedWorm Sponsor Message: Directory of the best January Sales in the UK. Find the best Christmas presents too. […]

  • Physical activity and health of adults with cystic fibrosis
    by Respirology on March 20, 2016 at 11:00 pm

    See article, page 511 (Source: Respirology) […]

  • A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height
    by Journal of Medical Genetics on March 20, 2016 at 11:00 pm

    Conclusions The PI-MZ rare (2%) SNP effect is nearly four times greater than the ‘top’ common height SNP in HMGA2. However, height only partially attenuates the SERPINA1-FEV1 or FVC association (around 50%) and vice versa. Height SNP variants have recently been shown to be positively selected collectively in North versus South Europeans, while the Z allele high frequency is localised to North Europe. Although PI-ZZ is clinically disadvantageous to lung function, PI-MZ increases both height and respiratory function; potentially a balanced polymorphism. Partial blockade of PI could conceivably form part of a future poly-therapeutic approach in very short children. The notion that elastase inhibition should benefit patients with chronic obstructive pulmonary disease may also merit... […]

  • CFSPID – czyli pozytywny wynik przesiewu noworodkowego w kierunku mukowiscydozy, ale niejednoznaczna diagnoza
    by Pediatria Polska on March 19, 2016 at 11:00 pm

    Publication date: Available online 19 March 2016 Source:Pediatria Polska Author(s): Dorota Sands, Ewa Tramś, Katarzyna Zybert Chloride channel dysfunction caused by pathogenic mutations in the CFTR gene leads to clinical symptoms of cystic fibrosis. With the development of techniques of molecular diagnostics, the number of discovered mutations has increased. Not every change in the CFTR gene causes clinical symptoms. The course of disease is variable, and it may also present in adulthood. The introduction of neonatal screening has led to creation of a new group of potential patients – children without symptomatic disease, but with presence of a mutation of the CFTR gene and/or borderline values of chloride in sweat. These patients should be reviewed periodically by a specialist, as... […]

  • Modulating Innate and Adaptive Immunity by (R)-Roscovitine: Potential Therapeutic Opportunity in Cystic Fibrosis
    by Journal of Innate Immunity on March 18, 2016 at 3:19 pm

    (R)-Roscovitine, a pharmacological inhibitor of kinases, is currently in phase II clinical trial as a drug candidate for the treatment of cancers, Cushing's disease and rheumatoid arthritis. We here review the data that support the investigation of (R)-roscovitine as a potential therapeutic agent for the treatment of cystic fibrosis (CF). (R)-Roscovitine displays four independent properties that may favorably combine against CF: (1) it partially protects F508del-CFTR from proteolytic degradation and favors its trafficking to the plasma membrane; (2) by increasing membrane targeting of the TRPC6 ion channel, it rescues acidification in phagolysosomes of CF alveolar macrophages (which show abnormally high pH) and consequently restores their bactericidal activity; (3) its effects on neutrophi... […]