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cystic fibrosis newborn screening

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https://www.readbyqxmd.com/read/27913761/best-practices-in-the-treatment-of-early-cystic-fibrosis-lung-disease
#1
REVIEW
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...
December 2, 2016: Therapeutic Advances in Respiratory Disease
https://www.readbyqxmd.com/read/27740724/innovative-assessment-of-inpatient-and-pulmonary-drug-costs-for-children-with-cystic-fibrosis
#2
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
#3
(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
#4
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
https://www.readbyqxmd.com/read/27662103/novel-insights-into-the-diagnostic-and-therapeutic-challenges-of-the-cftr-metabolic-syndrome-cf-screen-positive-indeterminate-diagnosis
#5
Evans Machogu, Clement L Ren
The growth of cystic fibrosis newborn screening (CF NBS) has led to an increased number of infants with a positive NBS test but inconclusive CF diagnostic testing. In the USA this condition is called CFTR related metabolic syndrome (CRMS), while in Europe the term CF screen positive, inconclusive diagnosis (CFSPID) is used. Recent advances in CF genetics and epidemiologic studies of CRMS/CFSPID have provided new insights into the prevalence and outcomes associated with this condition. Pediatr Pulmonol. 2016;51:S45-S48...
October 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27639560/onset-of-persistent-pseudomonas-aeruginosa-infection-in-children-with-cystic-fibrosis-with-interval-censored-data
#6
Wenjie Wang, Ming-Hui Chen, Sy Han Chiou, Hui-Chuan Lai, Xiaojing Wang, Jun Yan, Zhumin Zhang
BACKGROUND: Persistent Pseudomonas aeruginosa (PPA) infection promotes lung function deterioration in children with cystic fibrosis (CF). Although early CF diagnosis through newborn screening (NBS) has been shown to provide nutritional/growth benefit, it is unclear whether NBS lowers the risk of PPA infection and how the effect of NBS vary with age. Modeling the onset age of PPA infection is challenging because 1) the onset age of PPA infection is interval censored in patient registry data; and 2) some risk factors such as NBS may have time-varying effects...
September 17, 2016: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/27608173/a-secondary-benefit-the-reproductive-impact-of-carrier-results-from-newborn-screening-for-cystic-fibrosis
#7
Yvonne Bombard, Fiona A Miller, Carolyn J Barg, Sarah J Patton, June C Carroll, Pranesh Chakraborty, Beth K Potter, Karen Tam, Louise Taylor, Elizabeth Kerr, Christine Davies, Jennifer Milburn, Felix Ratjen, Astrid Guttmann, Robin Z Hayeems
PURPOSE: Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF. METHODS: We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions...
September 8, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27583671/cystic-fibrosis-screen-positive-inconclusive-diagnosis
#8
Jürg Barben, Kevin W Southern
PURPOSE OF REVIEW: A challenging sequelae of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has been the identification of infants with an unclear diagnosis after a positive NBS result, which leads to uncertainty for healthcare professionals and families. This review describes the classification, frequency, clinical outcome and early management of these infants. RECENT FINDINGS: In the US, infants with an inconclusive diagnosis after NBS are labelled 'CF transmembrane conductance regulator (CFTR)-related metabolic syndrome' (CRMS), and in Europe 'CF screen positive, inconclusive diagnosis' (CFSPID)...
November 2016: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/27576234/respiratory-conditions-update-cystic-fibrosis
#9
Lyle L Pritchard
Cystic fibrosis (CF) is an autosomal recessive genetic disease that occurs in approximately 1 in 2,500 white live births. It is less common in nonwhite individuals. A dysfunctional epithelial chloride channel leads to excessively thick mucus affecting multiple organ systems. Common issues include mucous plugging of the airway, lung inflammation, chronic pulmonary infections, intestinal malabsorption, and malnutrition. Universal screening of newborns for CF is recommended in many countries. CF can be diagnosed based on clinical evidence of disease along with genetic testing or other laboratory evidence of chloride channel dysfunction...
September 2016: FP Essentials
https://www.readbyqxmd.com/read/27556254/risk-stratification-model-to-detect-early-pulmonary-disease-in-infants-with-cystic-fibrosis-diagnosed-by-newborn-screening
#10
Lacrecia J Britton, Gabriela R Oates, Robert A Oster, Staci T Self, Robert B Troxler, Wynton C Hoover, Hector H Gutierrez, William T Harris
OBJECTIVE: The clinical benefit of newborn screening (NBS) for cystic fibrosis (CF) has been primarily nutritional, with less overt respiratory impact. Identification of risk factors for infant CF lung disease could facilitate targeted interventions to improve pulmonary outcomes. METHODS: This retrospective study evaluated socioeconomic information, clinical data, and results from routine infant pulmonary function testing (iPFT) of infants diagnosed with CF through NBS (N = 43) at a single CF center over a 4-year period (2008-2012)...
November 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27555301/prevalence-of-elevated-liver-enzymes-in-children-with-cystic-fibrosis-diagnosed-by-newborn-screen
#11
Samantha A Woodruff, Marci K Sontag, Frank J Accurso, Ronald J Sokol, Michael R Narkewicz
BACKGROUND: Prevalence and risks for elevated liver enzymes have not been studied systematically in children with CF identified by newborn screen. METHODS: 298 CF children identified by newborn screen since 1982. AST, ALT and GGT tested at annual visits. Percent of children with 1 or ≥2 values of elevated AST, ALT and GGT determined. Relationship of liver enzymes to clinical factors or subsequent liver disease was analyzed RESULTS: At least one abnormal value for AST (63%), ALT (93%) and ALT ≥1...
August 20, 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/27552071/newborn-screening-a-review-of-history-recent-advancements-and-future-perspectives-in-the-era-of-next-generation-sequencing
#12
Mohammed Almannai, Ronit Marom, V Reid Sutton
PURPOSE OF REVIEW: The purpose of this review is to summarize the development and recent advancements of newborn screening. RECENT FINDINGS: Early initiation of medical care has modified the outcome for many disorders that were previously associated with high morbidity (such as cystic fibrosis, primary immune deficiencies, and inborn errors of metabolism) or with significant neurodevelopmental disabilities (such as phenylketonuria and congenital hypothyroidism)...
December 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27485696/parent-experience-with-false-positive-newborn-screening-results-for-cystic-fibrosis
#13
Robin Z Hayeems, Fiona A Miller, Carolyn J Barg, Yvonne Bombard, Elizabeth Kerr, Karen Tam, June C Carroll, Beth K Potter, Pranesh Chakraborty, Christine Davies, Jennifer Milburn, Sarah Patton, Jessica P Bytautas, Louise Taylor, April Price, Tanja Gonska, Katherine Keenan, Felix Ratjen, Astrid Guttmann
BACKGROUND: The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS: Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants with FP CF NBS results 2 to 3 months after confirmatory testing at Ontario's largest follow-up center, and from a randomly selected control sample of mothers of screen negative infants from the same region...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27469178/cystic-fibrosis-diagnosis-and-newborn-screening
#14
REVIEW
Margaret Rosenfeld, Marci K Sontag, Clement L Ren
The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults...
August 2016: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27461140/a-product-of-immunoreactive-trypsinogen-and-pancreatitis-associated-protein-as-second-tier-strategy-in-cystic-fibrosis-newborn-screening
#15
Sophia Weidler, Konrad H Stopsack, Jutta Hammermann, Olaf Sommerburg, Marcus A Mall, Georg F Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Milan Macek, Felix Votava, Veronika Krulišová, Miroslava Balaščaková, Veronika Skalická, Min Ae Lee-Kirsch, Marina Stopsack
BACKGROUND: In cystic fibrosis newborn screening (CFNBS), immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) can be used as screening parameters. We evaluated the IRT×PAP product as second-tier parameter in CFNBS in newborns with elevated IRT. METHODS: Data on 410,111 screened newborns including 78 patients with classical cystic fibrosis (CF) from two European centers were retrospectively analyzed by discrimination analysis to identify a screening protocol with optimal cutoffs...
July 22, 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/27456476/neutrophil-elastase-and-matrix-metalloproteinase-12-in-cystic-fibrosis-lung-disease
#16
REVIEW
Claudius J Wagner, Carsten Schultz, Marcus A Mall
Chronic lung disease remains the major cause of morbidity and mortality in patients with cystic fibrosis (CF). Recent studies in young children with CF diagnosed by newborn screening identified neutrophil elastase (NE), a major product released from neutrophils in inflamed airways, as a key risk factor for the onset and early progression of CF lung disease. However, the understanding of how NE and potentially other proteases contribute to the complex in vivo pathogenesis of CF lung disease remains limited. In this review, we summarize recent progress in this area based on studies in βENaC-overexpressing (βENaC-Tg) mice featuring CF-like lung disease and novel protease-specific Förster resonance energy transfer (FRET) sensors for localization and quantification of protease activity in the lung...
December 2016: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/27447098/phenotypes-of-california-cf-newborn-screen-positive-children-with-cftr-5t-allele-by-tg-repeat-length
#17
Danieli Barino Salinas, Colleen Azen, Suzanne Young, Thomas G Keens, Martin Kharrazi, Richard B Parad
BACKGROUND: At the cystic fibrosis transmembrane conductance regulator (CFTR) gene (IVS8)-(TG)m(T)n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and a higher number of (TG) repeats (TG-11 vs. 12 vs. 13) are associated with decreasing translation of functional CFTR protein in vitro. METHODS: Retrospective cohort study comparing phenotypes of California CF newborn screen-positive children (followed 2-8 years) who had two CF-causing mutations (diagnosed as CF) with those who had one mutation from a panel of 40 CF-causing mutations (CF40mut) and one (IVS8)-(TG)11, 12, or 13-5T mutation detected by sequencing (diagnosed as CFTR-related metabolic syndrome [cRMS])...
September 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27265561/the-use-of-economic-evaluation-to-inform-newborn-screening-policy-decisions-the-washington-state-experience
#18
Scott D Grosse, John D Thompson, Yao Ding, Michael Glass
POLICY POINTS: Newborn screening not only saves lives but can also yield net societal economic benefit, in addition to benefits such as improved quality of life to affected individuals and families. Calculations of net economic benefit from newborn screening include the monetary equivalent of avoided deaths and reductions in costs of care for complications associated with late-diagnosed individuals minus the additional costs of screening, diagnosis, and treatment associated with prompt diagnosis...
June 2016: Milbank Quarterly
https://www.readbyqxmd.com/read/27261366/newborn-screening-and-population-carrier-screening-for-cystic-fibrosis-two-ends-of-the-same-rope
#19
EDITORIAL
John Massie
No abstract text is available yet for this article.
July 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/27255858/evaluation-of-a-new-newborn-screening-model-for-cystic-fibrosis
#20
EDITORIAL
Martin Kharrazi
No abstract text is available yet for this article.
August 2016: Journal of Pediatrics
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