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cystic fibrosis newborn screening

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https://www.readbyqxmd.com/read/28162069/newborn-screening-to-identify-cystic-fibrosis
#1
(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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
December 30, 2016: 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
#9
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
#10
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
#11
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
#12
(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
#13
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
https://www.readbyqxmd.com/read/27662103/novel-insights-into-the-diagnostic-and-therapeutic-challenges-of-the-cftr-metabolic-syndrome-cf-screen-positive-indeterminate-diagnosis
#14
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
#15
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
#16
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
#17
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
#18
REVIEW
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
#19
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
#20
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
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