Cystic Fibrosis: Recent Insights into Newborn Screening - February 13, 2015

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Cystic Fibrosis

Cystic Fibrosis: Recent Insights into Newborn Screening - February 13, 2015

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Baker Mei W et al. Genet. Med. 2015 Feb 12.

Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening.

Munck A et al. J. Cyst. Fibros. 2015 Jan 24.

Factors affecting parent-child relationships one year after positive newborn screening for cystic fibrosis or congenital hypothyroidism.

Tluczek Audrey et al. J Dev Behav Pediatr 2015 Jan (1) 24-34

Cystic fibrosis newborn screening: A model for neuromuscular disease screening?

Scully Michele A et al. Ann. Neurol. 2015 Feb (2) 189-97

Differences in immunoreactive trypsin values between type of feeding and ethnicity in neonatal cystic fibrosis screening: a cross-sectional study.

Cortés Ernesto et al. Orphanet J Rare Dis 2014 Nov 7. (1) 166

Assessment of parental understanding of positive newborn screening results and carrier status for cystic fibrosis with the use of a short educational video.

Temme R et al. J Genet Couns 2014 Sep 19.

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data.

van der Ploeg C P B et al. J. Cyst. Fibros. 2014 Sep 8.

Cystic Fibrosis: Towards Precision Medicine - January 23, 2015

FDA approves Kalydeco to treat rare form of cystic fibrosis. Breakthrough therapy targets defective protein (2012)

FDA panel votes to expand use of Vertex cystic fibrosis drug, by Bill Berkrot, Yahoo News, Oct 21, 2014

Cystic Fibrosis Foundation Information: Combined Ivacaftor (Kalydeco™) & Lumacaftor (VX-809) Phase 3 Clinical Trials

New combination therapy may treat 90% of all CF patients, Maureen Newman, Cystic Fibrosis News Today, November 2014

New Vertex drug combination for cystic fibrosis represents a triumph of drug discovery research,  by Ashutosh Jogalekar, Scientific American Blog, Jun 28, 2014

Cystic fibrosis: toward personalized therapies.

Ikpa PT, et al. Int J Biochem Cell Biol. 2014 Jul;52:192-200

A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect.

Boyle MP, et al. Lancet Respir Med. 2013 Apr;1(2):158-63.

New cystic fibrosis drug paves the way for orphan diseases.

Cooney D. Lancet Respir Med. 2013 Apr;1(2):104

Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function.

Massie J, et al. Lancet. 2014 Mar 8;383(9920):923-5

Cystic Fibrosis: Recent Progress, Health Impact and Economics - November 26, 2014

Discovery heralds new approach to the treatment of cystic fibrosis.

Lowe JA 3rd. J Med Chem. 2014 Nov 10.

Cystic fibrosis genetics: from molecular understanding to clinical application.

Cutting GR. Nat Rev Genet. 2014 Nov 18.

Cystic fibrosis patients now live 20 years longer than in the 1990s, Canadian study shows.

Mayor S. BMJ. 2014 Nov 16;349:g6844

A contemporary survival analysis of individuals with cystic fibrosis: a cohort study.

Stephenson AL,.et al. Eur Respir J. 2014 Nov 13

Improving nutritional status in a pediatric cystic fibrosis center.

Ramírez I, et al. Pediatr Pulmonol. 2014 Nov 11.

Payout from drug raises questions for cystic fibrosis group, by Andrew Pollack, New York Times, Nov 19

Cystic Fibrosis: Progress in Outcomes 25 Years after Gene Discovery - October 9, 2014

Cystic Fibrosis Foundation: CF is a life-threatening genetic disease that primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States (70,000 worldwide) have CF

Identification of the cystic fibrosis gene: Chromosome walking and jumping.

Rommens JM et al.  Science (1989)

Progress in treating cystic fibrosis means that many patients may now reach midlife and beyond

Bridget M. Kuehn, JAMA. 2014;312(12):1182-1183. 

Management of the upper airway in cystic fibrosis.

Illing EA, Woodworth BA. Curr Opin Pulm Med. 2014 Nov;20(6):623-31.

Adherence of subjects with cystic fibrosis to their home program: A systematic review.

O'Donohoe R, Fullen BM. Respir Care. 2014 Jul 15

Improvements in lung function and height among cohorts of 6-year-olds with cystic fibrosis from 1994 to 2012.

VanDevanter DR, et al.  J Pediatr. 2014 Aug 16

Self-management education for cystic fibrosis.

Savage E, Beirne PV, Ni Chroinin M, Duff A, Fitzgerald T, Farrell D. Cochrane Database Syst Rev. 2014 Sep 8;9:CD007641.

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data.

van der Ploeg CP, et al. J Cyst Fibros. 2014 Sep

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.

Audrézet MP, et al. Genet Med. 2014 Aug 14.

Primary care providers' experiences notifying parents of cystic fibrosis newborn screening results.

Finan C, et al.  Clin Pediatr (Phila). 2014 Aug 6

Disparities in current and future childhood and newborn carrier identification.

Noke M, et al. J Genet Couns. 2014 Oct;23(5):701-7