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cystic fibrosis newborn screening

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https://www.readbyqxmd.com/read/29124052/thirty-years-of-sweat-chloride-testing-at-one-referral-center
#1
Alethéa Guimarães Faria, Fernando Augusto Lima Marson, Carla Cristina Souza Gomez, Maria de Fátima Servidoni, Antônio Fernando Ribeiro, José Dirceu Ribeiro
Objective: To conduct a descriptive analysis of the sweat test (ST), associating ST results with epidemiological data, CFTR (cystic fibrosis transmembrane conductance regulator) mutations and reasons to indicate the ST, as well as correlating sweat sodium and sweat chloride concentrations in subjects. Methods: Retrospective survey and descriptive analysis of 5,721 ST at a university referral center. Results: The inclusion of the subjects was based on clinical data related with cystic fibrosis (CF) phenotype...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29122915/elevated-lung-clearance-index-in-infants-with-cystic-fibrosis-shortly-after-birth
#2
Elisabeth Kieninger, Sophie Yammine, Insa Korten, Pinelopi Anagnostopoulou, Florian Singer, Urs Frey, Anne Mornand, Maura Zanolari, Isabelle Rochat, Daniel Trachsel, Dominik Mueller-Suter, Alexander Moeller, Carmen Casaulta, Philipp Latzin
It is not known at what age lung function impairment may arise in children with cystic fibrosis (CF). We assessed lung function shortly after birth in infants with CF diagnosed by newborn screening.We performed infant lung function measurements in a prospective cohort of infants with CF and healthy controls. We assessed lung clearance index (LCI), functional residual capacity (FRC) and tidal breathing parameters. The primary outcome was prevalence and severity of abnormal lung function (±1.64 z-scores) in CF...
November 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29122914/pulmonary-function-deficits-in-newborn-screened-infants-with-cystic-fibrosis-managed-with-standard-uk-care-are-mild-and-transient
#3
Gwyneth Davies, Janet Stocks, Lena P Thia, Ah-Fong Hoo, Andrew Bush, Paul Aurora, Lucy Brennan, Simon Lee, Sooky Lum, Philippa Cottam, Joanne Miles, Jane Chudleigh, Jane Kirkby, Ian M Balfour-Lynn, Siobhán B Carr, Colin Wallis, Hilary Wyatt, Angie Wade
With the advent of novel designer molecules for cystic fibrosis (CF) treatment, there is huge need for early-life clinical trial outcomes, such as infant lung function (ILF). We investigated the degree and tracking of ILF abnormality during the first 2 years of life in CF newborn screened infants.Forced expiratory volume in 0.5 s (FEV0.5), lung clearance index (LCI) and plethysmographic functional residual capacity were measured at ∼3 months, 1 year and 2 years in 62 infants with CF and 34 controls...
November 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29113966/cystic-fibrosis-newborn-screening-outcome-of-infants-with-normal-sweat-tests
#4
Claire Edmondson, Christopher Grime, Ammani Prasad, Jacqui Cowlard, Chinedu E C Nwokoro, Gary Ruiz, Colin Wallis, Ian M Balfour-Lynn
Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England...
November 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29099606/comparison-of-nutrition-and-lung-function-outcomes-in-patients-with-cystic-fibrosis-living-in-canada-and-the-united-states
#5
Christopher H Goss, Jenna Sykes, Sanja Stanojevic, Bruce Marshall, Kristofer Petren, Josh Ostrenga, Aliza Fink, Alexander Elbert, Bradley S Quon, Anne L Stephenson
RATIONALE: A 10-year gap in the median age of survival for patients with cystic fibrosis (CF) was reported between patients living in Canada compared with the US. OBJECTIVES: Since both malnutrition and poor lung function are associated with an increased risk of mortality in CF, we investigated the temporal and longitudinal trends in lung function and nutrition between Canada and the US. METHODS: This cohort study used Canadian CF Registry and US CF Foundation Patient Registry data from 1990 to 2013...
November 3, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29096367/electrochemical-immunosensors-for-the-detection-of-survival-motor-neuron-smn-protein-using-different-carbon-nanomaterials-modified-electrodes
#6
Shimaa Eissa, Nawal Alshehri, Anas M Abdel Rahman, Majed Dasouki, Khalid M Abu Salah, Mohammed Zourob
Spinal muscular atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron (SMN) 1 gene which encodes the SMN protein. Currently, definitive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene. Therefore, there is an urgent unmet need to accurately quantify SMN protein levels for screening and therapeutic monitoring of symptomatic newborn and SMA patients, respectively. Here, we developed a voltammetric immunosensor for the sensitive detection of SMN protein based on covalently functionalized carbon nanofiber-modified screen printed electrodes...
October 10, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29094862/access-to-primary-care-and-subspecialty-care-after-positive-cystic-fibrosis-newborn-screening
#7
Katelyn Parker-McGill, Marjorie Rosenberg, Philip Farrell
PROBLEM CONSIDERED: Accessibility by telephone to cystic fibrosis (CF) centers for a diagnostic sweat test appointment from a parental perspective—which can be stressful—compared to experience in contacting a general pediatrics practice in the same area. METHODS: We called each CF center and affiliate twice, plus a sample of multiphysician general pediatrics practices selected from yellowpages.com after being matched by area and ZIP codes to 50 randomly selected CF centers, including Wisconsin’s 2 nationally accredited centers...
December 2016: WMJ: Official Publication of the State Medical Society of Wisconsin
https://www.readbyqxmd.com/read/29025964/false-positive-newborn-screening-for-cystic-fibrosis-and-health-care-use
#8
Robin Z Hayeems, Fiona A Miller, Marian Vermeulen, Beth K Potter, Pranesh Chakraborty, Christine Davies, June C Carroll, Felix Ratjen, Astrid Guttmann
OBJECTIVES: Evidence is mixed regarding the impact of false-positive (FP) newborn bloodspot screening (NBS) results on health care use. Using cystic fibrosis (CF) as an example, we determined the association of FP NBS results with health care use in infants and their mothers in Ontario, Canada. METHODS: We conducted a population-based cohort study of all infants with FP CF results (N = 1564) and screen-negative matched controls (N = 6256) born between April 2008 and November 2012 using linked health administrative data...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/28992757/newborn-cystic-fibrosis-screening-in-southeastern-mexico-birth-prevalence-and-novel-cftr-gene-variants
#9
Isabel Ibarra-González, Felix-Julián Campos-Garcia, Luz Del Alba Herrera-Pérez, Patricia Martínez-Cruz, Claudia-Margarita Moreno-Graciano, Silvina-Noemí Contreras-Capetillo, Verónica León-Burgos, Felipe-Angel Maldonado-Solis, Miguel Angel Alcántara-Ortigoza, Ariadna González Del Angel, Marcela Vela-Amieva
Objective To use the results of the first five years of a cystic fibrosis newborn screening program to estimate the cystic fibrosis birth prevalence and spectrum of cystic fibrosis transmembrane conductance regulator ( CFTR) gene variants in Yucatan, Mexico. Methods Screening was performed from 2010 to 2015, using two-tier immunoreactive trypsinogen testing, followed by a sweat test. When sweat test values were >30 mmol/L, the CFTR gene was analyzed. Results Of 96,071 newborns screened, a second sample was requested in 119 cases...
January 1, 2017: Journal of Medical Screening
https://www.readbyqxmd.com/read/28981983/roadmap-for-an-early-gene-therapy-for-cystic-fibrosis-airway-disease
#10
REVIEW
Marianne S Carlon, Dragana Vidović, Susan Birket
Gene therapy provides a mutation-independent approach to treat or even cure CF airway disease. To develop a clinical candidate for CF gene therapy, a thorough examination of preclinical efficacy in relevant cell and animal models is a prerequisite. For a long time, the CF field was struggling with a lack of appropriate animal models for CF airway pathology. Since 2008, many different and complementary animal models have been generated that develop hallmarks of CF airway disease, including the CF pig, ferret and rat...
October 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28964647/real-life-practice-of-sweat-testing-in-europe
#11
N Cirilli, K W Southern, R Buzzetti, J Barben, L Nährlich, A Munck, M Wilschanski, K De Boeck, N Derichs
Evidence based guidelines exist for sweat testing, which remains a key component of a diagnosis of cystic fibrosis (CF), especially following newborn bloodspot screening (NBS). There are emerging challenges with respect to maintaining a valid sweat test service, notably a smaller number of sweat tests ordered in regions with established NBS programmes where Pediatricians refer less children for sweat testing, younger patients and equipment becoming obsolete. The ECFS Diagnostic Network Working Group has undertaken a comprehensive survey to better define sweat test practice across Europe...
September 27, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28952009/psychosocial-distress-and-knowledge-deficiencies-in-parents-of-children-in-ireland-who-carry-an-altered-cystic-fibrosis-gene
#12
S J Quigley, B Linnane, S Connellan, A Ward, P Ryan
Significant gaps have been identified in parental understanding of CF newborn screening and the consequences of carrying an altered CF gene. Seven potential causes of psychosocial adversity arising from false positive newborn screening for CF have been identified. The current study aimed to increase parents understanding of CF, reduce their levels of stress, and investigate psychosocial adversity arising from false-positive screening. This national study was run over one year in the Republic of Ireland. Parents were recruited for the study following a diagnostic sweat test confirming their child carried a single altered CF gene...
September 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28910260/shining-new-light-on-newborn-screening-of-cystic-fibrosis-in-the-province-of-quebec
#13
Léticia Khendek
Newborn screening of cystic fibrosis, a severe genetic disease with high treatment burden, is offered in all of North America with the exception of the province of Quebec. This condition, when diagnosed on symptomatic presentation, is marked by chronic infections and progressive lung function decline leading to eventual respiratory failure. Patients continue to have a median age of survival notably below the Canadian average. Despite prevalence rates of cystic fibrosis almost three times the national average in certain regions of Quebec, the province still does not offer screening to its newborns...
September 14, 2017: Canadian Journal of Public Health. Revue Canadienne de Santé Publique
https://www.readbyqxmd.com/read/28861941/early-follow-up-of-lung-disease-in-infants-with-cystic-fibrosis-using-the-raised-volume-rapid-thoracic-compression-technique-and-computed-tomography-during-quiet-breathing
#14
Rémi Gauthier, Yann Cabon, Marie Agnes Giroux-Metges, Cecile Du Boisbaudry, Phillipe Reix, Muriel Le Bourgeois, Raphael Chiron, Nicolas Molinari, Magali Saguintaah, Francis Amsallem, Stefan Matecki
BACKGROUND: Among the different techniques used to monitor lung disease progression in infants with CF diagnosed by Newborn screening (NBS), raised volume-rapid thoracic compression (RVRTC) remains a promising tool. However, the need of sedation and positive pressure ventilation considerably limits its clinical use. We recently described a semi-quantitative method to evaluate air trapping by chest tomography during quite breathing without sedation (CTqb score). This parameter is the radiological sign of airway obstruction and could be also used for lung disease follow-up in infants with CF...
October 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28855057/cystic-fibrosis
#15
Susanne Naehrig, Cho-Ming Chao, Lutz Naehrlich
BACKGROUND: Universal screening of newborn babies for cystic fibrosis was launched in Germany on 1 September 2016. Here we present up-to-date information on the diagnosis, treatment, and prognosis of this disease. METHODS: This article is based on relevant publications retrieved by a selective search in PubMed, along with guidelines from Germany and abroad and systematic reviews. RESULTS: Cystic fibrosis is caused by a gene mutation leading to dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein...
August 21, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28852705/the-sweat-metabolome-of-screen-positive-cystic-fibrosis-infants-revealing-mechanisms-beyond-impaired-chloride-transport
#16
Adriana N Macedo, Stellena Mathiaparanam, Lauren Brick, Katherine Keenan, Tanja Gonska, Linda Pedder, Stephen Hill, Philip Britz-McKibbin
The sweat chloride test remains the gold standard for confirmatory diagnosis of cystic fibrosis (CF) in support of universal newborn screening programs. However, it provides ambiguous results for intermediate sweat chloride cases while not reflecting disease progression when classifying the complex CF disease spectrum given the pleiotropic effects of gene modifiers and environment. Herein we report the first characterization of the sweat metabolome from screen-positive CF infants and identify metabolites associated with disease status that complement sweat chloride testing...
August 23, 2017: ACS Central Science
https://www.readbyqxmd.com/read/28685094/treatment-of-high-grade-osteoblastic-osteosarcoma-of-the-humerus-in-a-5-year-old-boy-with-cystic-fibrosis-a-case-report
#17
Kenichi V Okuda, Jutta Hammermann, Björn S Lange, Jana C Fischer, Falk Thielemann, Ralf Knöfler, Meinolf Suttorp
Antineoplastic treatment of osteoblastic osteosarcoma in a patient with cystic fibrosis (CF) may harbor a high risk of neutropenia-associated complications, and, to the best of our knowledge, has not been previously reported. Diagnosis of CF was confirmed in a 6-week-old boy following pathological newborn screening. The patient had a stable course of CF under standardized continuous therapy. At the age of 5 years, osteosarcoma of the left proximal humerus was diagnosed without evidence of metastases. Neoadjuvant chemotherapy, including doxorubicin, cisplatin and methotrexate, was administered for 10 weeks...
July 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28576637/the-diagnosis-of-cystic-fibrosis
#18
REVIEW
Kris De Boeck, Francois Vermeulen, Lieven Dupont
Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients: they present with a clear clinical picture (most frequently chronic respiratory symptoms plus malabsorption), the sweat chloride value is>60mmol/L and two known disease causing CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or limited phenotype, the diagnostic process is more complex, because initial diagnostic test results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 CF causing mutations identified or both...
June 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28554723/new-treatments-targeting-the-basic-defects-in-cystic-fibrosis
#19
REVIEW
Isabelle Fajac, Claire E Wainwright
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder affecting around 75,000 individuals worldwide. It is a multi-system disease but the main morbidity and mortality is caused by chronic lung disease. Due to newborn screening, a multidisciplinary approach to care and intensive symptomatic treatment, the prognosis has dramatically improved over the last decades and there are currently more adults than children in many countries. However, CF is still a very severe disease with a current median age of life expectancy in the fourth decade of life...
June 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28554720/the-changing-epidemiology-and-demography-of-cystic-fibrosis
#20
COMPARATIVE STUDY
Anne L Stephenson, Sanja Stanojevic, Jenna Sykes, Pierre-Regis Burgel
Once considered a pediatric disease with a poor prognosis, individuals born with cystic fibrosis (CF) today can expect to live well into adulthood. The implementation of multidisciplinary care, novel treatments and newborn screening has resulted in the rapid evolution in the demographics of the CF population. The purpose of this review is to highlight the evolving epidemiology and demographics of the CF population internationally.
June 2017: La Presse Médicale
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