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cystic fibrosis newborn screening

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https://www.readbyqxmd.com/read/28505188/early-childhood-lung-function-is-a-stronger-predictor-of-adolescent-lung-function-in-cystic-fibrosis-than-early-pseudomonas-aeruginosa-infection
#1
Jessica E Pittman, Hannah Noah, Hollin E Calloway, Stephanie D Davis, Margaret W Leigh, Mitchell Drumm, Scott D Sagel, Frank J Accurso, Michael R Knowles, Marci K Sontag
OBJECTIVE: Pseudomonas aeruginosa has been suggested as a major determinant of poor pulmonary outcomes in cystic fibrosis (CF), although other factors play a role. Our objective was to investigate the association of early childhood Pseudomonas infection on differences in lung function in adolescence with CF. METHODS: Two populations of subjects with CF were studied: from the Gene Modifier Study (GMS), 346 F508del homozygotes with severe vs. mild adolescent lung disease, and from the Colorado Newborn Screen Study (NBS) 172 subjects diagnosed with CF by newborn screening...
2017: PloS One
https://www.readbyqxmd.com/read/28471435/genomic-sequencing-in-cystic-fibrosis-newborn-screening-what-works-best-two-tier-predefined-cftr-mutation-panels-or-second-tier-cftr-panel-followed-by-third-tier-sequencing
#2
Robert J Currier, Stan Sciortino, Ruiling Liu, Tracey Bishop, Rasoul Alikhani Koupaei, Lisa Feuchtbaum
PurposeThe purpose of this study was to model the performance of several known two-tier, predefined mutation panels and three-tier algorithms for cystic fibrosis (CF) screening utilizing the ethnically diverse California population.MethodsThe cystic fibrosis transmembrane conductance regulator (CFTR) mutations identified among the 317 CF cases in California screened between 12 August 2008 and 18 December 2012 were used to compare the expected CF detection rates for several two- and three-tier screening approaches, including the current California approach, which consists of a population-specific 40-mutation panel followed by third-tier sequencing when indicated...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28465863/low-beta-adrenergic-sweat-responses-in-cystic-fibrosis-and-cystic-fibrosis-transmembrane-conductance-regulator-related-metabolic-syndrome-children
#3
Danieli Barino Salinas, Lucia Kang, Colleen Azen, Paul Quinton
β-adrenergically stimulated sweat secretion depends on the function of the cystic fibrosis transmembrane conductance regulator (CFTR) and discriminates between cystic fibrosis (CF) patients and healthy controls. Therefore, we sought to determine the feasibility, safety, and efficacy of assaying β-adrenergic sweating in children identified by CF newborn screening to help determine prognoses for individuals with CFTR-related metabolic syndrome (CRMS). Preschool age children with a positive newborn screening test for CF participated in this cross-sectional study...
March 1, 2017: Pediatric Allergy, Immunology, and Pulmonology
https://www.readbyqxmd.com/read/28454512/optimization-of-the-french-cystic-fibrosis-newborn-screening-programme-by-a-centralized-tracking-process
#4
Anne Munck, Dominique Delmas, Marie-Pierre Audrézet, Lydie Lemonnier, David Cheillan, Michel Roussey
Objectives To evaluate the French cystic fibrosis newborn screening algorithm, based on data tracked by a centralized monitoring process, from 2002 to 2014. The programme aimed to attain European Standards in terms of positive predictive value, sensitivity, the ratio of screen positive patients diagnosed with cystic fibrosis to infants who screen positive but with inconclusive diagnosis (CFSPID), and time to diagnosis. Methods Retrospective analysis of programme performance, compliance with the algorithm, and changes in screening strategy...
January 1, 2017: Journal of Medical Screening
https://www.readbyqxmd.com/read/28444650/-newborn-screening-on-cystic-fibrosis-in-germany-comparison-of-the-new-screening-protocol-with-an-alternative-protocol
#5
Olaf Sommerburg, Mirjam Stahl, Jutta Hammermann, Jürgen G Okun, Andreas Kulozik, Georg Hoffmann, Marcus Mall
Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as third tier to increase the positive predictive value (PPV) which is known to be low in pure biochemical IRT/PAP protocols. Methods For post hoc analysis the data pool (n=372 906) of a study evaluating a pure biochemical IRT/PAP protocol was used for assessment of the 3-step G-BA protocol in comparison with an alternative screening protocol recommended by the authors...
March 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28437538/effects-of-diagnosis-by-newborn-screening-for-cystic-fibrosis-on-weight-and-length-in-the-first-year-of-life
#6
Daniel H Leung, Sonya L Heltshe, Drucy Borowitz, Daniel Gelfond, Margaret Kloster, James E Heubi, Michael Stalvey, Bonnie W Ramsey
Importance: Since the implementation of universal newborn screening (NBS) for cystic fibrosis (CF), the timing and magnitude of growth deficiency or its association with correlates of disease among infants with CF who underwent NBS has not been well described. Objective: To examine incremental weight gain, linear growth, and clinical features in the first year of life among infants with CF who underwent NBS. Design, Setting, and Participants: The Baby Observational and Nutrition Study (BONUS), a multicenter, longitudinal, observational cohort study, was conducted during regular CF clinic visits in the first 12 months of life at 28 US Cystic Fibrosis Foundation-accredited Care Centers from January 7, 2012, through May 31, 2015...
April 24, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28279431/psychosocial-response-to-uncertain-newborn-screening-results-for-cystic-fibrosis
#7
Robin Z Hayeems, Fiona A Miller, Carolyn J Barg, Yvonne Bombard, June C Carroll, Karen Tam, Elizabeth Kerr, Pranesh Chakraborty, Beth K Potter, Sarah Patton, Jessica P Bytautas, Louise Taylor, Christine Davies, Jennifer Milburn, April Price, Tanja Gonska, Katherine Keenan, Felix Ratjen, Astrid Guttmann
OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results...
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28162069/newborn-screening-to-identify-cystic-fibrosis
#8
(no author information available yet)
Background Newborn screening (NBS) identifies pre-symptomatic babies who are at risk of carrying or being affected by genetic or congenital conditions (UK Newborn Screening Programme Centre 2012). Screening for cystic fibrosis (CF) is not diagnostic and, once a positive screening result has been obtained, further testing is required to determine whether the child is affected by CF.
February 6, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28129813/diagnosis-of-cystic-fibrosis-in-nonscreened-populations
#9
Patrick R Sosnay, Terry B White, Philip M Farrell, Clement L Ren, Nico Derichs, Michelle S Howenstine, Jerry A Nick, Kris De Boeck
OBJECTIVE: Although the majority of cases of cystic fibrosis (CF) are now diagnosed through newborn screening, there is still a need to standardize the diagnostic criteria for those diagnosed outside of the neonatal period. This is because newborn screening started relatively recently, it is not performed everywhere, and even for individuals who were screened, there is the possibility of a false negative. To limit irreversible organ pathology, a timely diagnosis of CF and institution of CF therapies can greatly benefit these patients...
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28129812/cystic-fibrosis-transmembrane-conductance-regulator-related-metabolic-syndrome-and-cystic-fibrosis-screen-positive-inconclusive-diagnosis
#10
Clement L Ren, Drucy S Borowitz, Tanja Gonska, Michelle S Howenstine, Hara Levy, John Massie, Carlos Milla, Anne Munck, Kevin W Southern
OBJECTIVE: An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identification of infants with a positive NBS test but inconclusive diagnostic testing. These infants are classified as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen positive, inconclusive diagnosis (CFSPID) in other countries. Diagnostic and management decisions of these infants are challenges for CF healthcare professionals and stressful situations for families...
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28129811/diagnosis-of-cystic-fibrosis-consensus-guidelines-from-the-cystic-fibrosis-foundation
#11
Philip M Farrell, Terry B White, Clement L Ren, Sarah E Hempstead, Frank Accurso, Nico Derichs, Michelle Howenstine, Susanna A McColley, Michael Rock, Margaret Rosenfeld, Isabelle Sermet-Gaudelus, Kevin W Southern, Bruce C Marshall, Patrick R Sosnay
OBJECTIVE: Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria. STUDY DESIGN: To improve diagnosis and achieve standardized definitions worldwide, the CF Foundation convened a committee of 32 experts in CF diagnosis from 9 countries to develop clear and actionable consensus guidelines on the diagnosis of CF and to clarify diagnostic criteria and terminology for other disorders associated with CFTR mutations...
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28129810/diagnosis-of-cystic-fibrosis-in-screened-populations
#12
Philip M Farrell, Terry B White, Michelle S Howenstine, Anne Munck, Richard B Parad, Margaret Rosenfeld, Olaf Sommerburg, Frank J Accurso, Jane C Davies, Michael J Rock, Don B Sanders, Michael Wilschanski, Isabelle Sermet-Gaudelus, Hannah Blau, Silvia Gartner, Susanna A McColley
OBJECTIVE: Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening (NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS protocols, misunderstandings about screening vs diagnostic tests, and the lack of guidelines for presumptive diagnoses. There is also confusion regarding the designation of age at diagnosis. STUDY DESIGN: To improve diagnosis and achieve standardization in definitions worldwide, the CF Foundation convened a committee of 32 experts with a mission to develop clear and actionable consensus guidelines on diagnosis of CF with an emphasis on screened populations, especially the newborn population...
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28127999/newborn-screening-for-cystic-fibrosis-can-one-algorithm-fit-all
#13
Michele Caggana
No abstract text is available yet for this article.
March 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28052955/hypoxia-and-sterile-inflammation-in-cystic-fibrosis-airways-mechanisms-and-potential-therapies
#14
REVIEW
Samuel T Montgomery, Marcus A Mall, Anthony Kicic, Stephen M Stick
Cystic fibrosis is one of the most common autosomal recessive genetic diseases in Caucasian populations. Diagnosis via newborn screening and targeted nutritional and antibiotic therapy have improved outcomes, however respiratory failure remains the key cause of morbidity and mortality. Progressive respiratory disease in cystic fibrosis is characterised by chronic neutrophilic airway inflammation associated with structural airway damage leading to bronchiectasis and decreased lung function. Mucus obstruction is a characteristic early abnormality in the cystic fibrosis airway, associated with neutrophilic inflammation often in the absence of detectable infection...
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28043799/the-expansion-and-performance-of-national-newborn-screening-programmes-for-cystic-fibrosis-in-europe
#15
Jürg Barben, Carlo Castellani, Jeannette Dankert-Roelse, Silvia Gartner, Nataliya Kashirskaya, Barry Linnane, Sarah Mayell, Anne Munck, Dorota Sands, Olaf Sommerburg, Simon Pybus, Victoria Winters, Kevin W Southern
BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards. METHODS: Questionnaires were sent to key workers in each European country. RESULTS: In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe...
March 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/27930727/airway-microbiota-in-bronchoalveolar-lavage-fluid-from-clinically-well-infants-with-cystic-fibrosis
#16
Theresa A Laguna, Brandie D Wagner, Cynthia B Williams, Mark J Stevens, Charles E Robertson, Cole W Welchlin, Catherine E Moen, Edith T Zemanick, Jonathan K Harris
BACKGROUND: Upper airway cultures guide the identification and treatment of lung pathogens in infants with cystic fibrosis (CF); however, this may not fully reflect the spectrum of bacteria present in the lower airway. Our objectives were to characterize the airway microbiota using bronchoalveolar lavage fluid (BALF) from asymptomatic CF infants during the first year of life and to investigate the relationship between BALF microbiota, standard culture and clinical characteristics. METHODS: BALF, nasopharyngeal (NP) culture and infant pulmonary function testing data were collected at 6 months and one year of age during periods of clinical stability from infants diagnosed with CF by newborn screening...
2016: PloS One
https://www.readbyqxmd.com/read/27913761/best-practices-in-the-treatment-of-early-cystic-fibrosis-lung-disease
#17
Marijke Proesmans
For many years, management of cystic fibrosis (CF) lung disease was focused on symptomatic treatment of chronic lung infection, which is characterized by cough and sputum production, leading to progressive lung damage. With increasing survival and better knowledge of the pathogenesis of CF lung disease, it has become clear that treatment has to start very early because lung damage occurs in young patients, often before obvious symptoms appear. The arrival of new cystic fibrosis transmembrane conductance-regulator (CFTR)-correcting therapies will bring more opportunities to prevent the disease, apart from only treating chronic lung infection...
February 2017: Therapeutic Advances in Respiratory Disease
https://www.readbyqxmd.com/read/27740724/innovative-assessment-of-inpatient-and-pulmonary-drug-costs-for-children-with-cystic-fibrosis
#18
Joseph F Levy, Marjorie A Rosenberg, Philip M Farrell
BACKGROUND: Previous estimates of the cost of care for pediatric Cystic fibrosis (CF) showed wide variation, without specific summary of pulmonary drug costs. METHODS: Enrolled CF children from the Wisconsin newborn screening trial were evaluated quarterly per protocol. Assessments systematically included all treatments, hospitalizations, and nutritional and pulmonary outcomes. Direct medical costs from hospital billing and medical records from 1989 to 2010 were used to describe costs by age-ranges and subgroups throughout follow-up...
December 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27712319/sickle-cell-and-cystic-fibrosis-carrier-results
#19
(no author information available yet)
Background Newborn screening (NBS) is used to identify pre-symptomatic babies who carry, or are affected by, genetic or congenital conditions ( UK Newborn Screening Programme Centre 2012 ). In England, parents are required to provide informed consent before their babies are screened.
October 7, 2016: Nursing Children and Young People
https://www.readbyqxmd.com/read/27662104/early-detection-and-sensitive-monitoring-of-cf-lung-disease-prospects-of-improved-and-safer-imaging
#20
REVIEW
Marcus A Mall, Mirjam Stahl, Simon Y Graeber, Olaf Sommerburg, Hans-Ulrich Kauczor, Mark O Wielpütz
Recent imaging studies using chest computed tomography (CT) in presymptomatic infants and young children with cystic fibrosis (CF) diagnosed by newborn screening presented compelling evidence of early onset and progression of structural lung damage in CF. These data argue persuasively that non-invasive outcome measures for early detection and sensitive monitoring of lung disease applicable in the clinical setting will be instrumental for further improvement of clinical care and the development of early intervention therapies that have the potential to prevent irreversible lung damage...
October 2016: Pediatric Pulmonology
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