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cystic fibrosis newborn screening

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https://www.readbyqxmd.com/read/29310632/biomarkers-of-inflammation-in-infants-with-cystic-fibrosis
#1
Theresa A Laguna, Cynthia B Williams, Myra G Nunez, Cole Welchlin-Bradford, Catherine E Moen, Cavan S Reilly, Chris H Wendt
BACKGROUND: There are urgent needs for clinically relevant biomarkers to identify children with cystic fibrosis (CF) at risk for more progressive lung disease and to serve as outcome measures for clinical trials. Our objective was to investigate three targeted biomarkers in a population of asymptomatic CF infants. METHODS: Urine, blood and lung function data were collected for 2 years from clinically stable infants diagnosed with CF by newborn screening. A subset of CF infants had bronchoscopy with lavage performed at 6 months and 1 year...
January 8, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29303286/-cystic-fibrosis-in-adults
#2
Libor Fila
Cystic fibrosis (CF) is an inherited disease caused by mutations in the transmembrane conductance regulator (CFTR) gene. The disease leads to dysfunction of the exocrine glands with high concentration of chloride in the sweat and formation of abnormally viscous mucus in the respiratory, digestive and reproductive tract. Chronic sinopulmonary disease, exocrine pancreatic insufficiency, liver disease, intestinal obstruction, impaired nutritional status, salt loss syndrome and male infertility dominates in the clinical presentation...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29298718/s737f-is-a-new-cftr-mutation-typical-of-patients-originally-from-the-tuscany-region-in-italy
#3
Vito Terlizzi, Antonella Miriam Di Lullo, Marika Comegna, Claudia Centrone, Elisabetta Pelo, Giuseppe Castaldo, Valeria Raia, Cesare Braggion
BACKGROUND: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC). METHODS: A retrospective database was performed from individuals homozygous or compound heterozygous for the S737F variant followed in the Cystic Fibrosis (CF) Centre of Florence...
January 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29274932/adverse-perinatal-conditions-associated-with-prenatally-detected-fetal-echogenic-bowel-in-nova-scotia
#4
Rachelle Findley, Victoria M Allen, Jo-Ann K Brock
OBJECTIVE: This study sought to estimate the association of adverse perinatal outcomes with pregnancies complicated by fetal echogenic bowel. METHODS: Data for pregnancies complicated with echogenic bowel identified in the second trimester were derived from the tertiary referral IWK Health Centre (Halifax, NS) Viewpoint Ultrasound Database augmented by medical chart review. The study was undertaken between 2003 and 2014. Rates of positive cytomegalovirus and toxoplasmosis infection were determined using maternal serology and amniocentesis results...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29274129/newborn-screening-for-galactosaemia
#5
REVIEW
Rohollah Lak, Bahareh Yazdizadeh, Majid Davari, Mojtaba Nouhi, Roya Kelishadi
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula...
December 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29214071/is-bronchoscopy-an-obsolete-tool-in-cystic-fibrosis-the-role-of-bronchoscopy-in-cystic-fibrosis-and-its-clinical-use
#6
REVIEW
Lisa Paul
Cystic fibrosis (CF) is a progressive life threatening multisystem genetic disease which affects the CF transmembrane conductance regulator channel. Respiratory causes remain the most common mortality in CF. With the onset of newborn screening, initiating treatments both for prophylaxis and disease management, optimizing nutritional support, and developing therapies targeting CF transmembrane conductance regulator protein, this has significantly changed the face of managing this devastating disease. Bronchoscopy and related procedures such as bronchoalveolar lavage (BAL), transbronchial biopsies, and protected brush sampling have been looked at in the management of CF as patients with CF continue to live longer with the help of newer therapies, the microbiome in the lung becomes less diverse along with increased occurrences for noninfectious causes of airway diseases...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29176494/pancreatic-enzyme-replacement-therapy-use-in-infants-with-cystic-fibrosis-diagnosed-by-newborn-screening
#7
Daniel Gelfond, Sonya L Heltshe, Michelle Skalland, James E Heubi, Margaret Kloster, Daniel H Leung, Bonnie W Ramsey, Drucy Borowitz
OBJECTIVES: To describe pancreatic enzyme practices during the first year of life in infants with cystic fibrosis (CF) and evaluate associations between dosing and outcomes, including growth and gastrointestinal symptoms. METHODS: We analyzed data from a subset of infants who were in a prospective cohort study conducted at 28 US CF centers. Anthropometric measurements and medications were recorded at each visit. Diaries with infant diet, pancreatic enzyme replacement therapy (PERT) dosing, stool frequency and consistency and pain were completed by a parent/guardian for three days prior to each visit...
November 15, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29174009/guidelines-for-the-clinical-management-and-follow-up-of-infants-with-inconclusive-cystic-fibrosis-diagnosis-through-newborn-screening
#8
I Sermet-Gaudelus, J Brouard, M-P Audrézet, L Couderc Kohen, L Weiss, N Wizla, S Vrielynck, K LLerena, M Le Bourgeois, E Deneuville, N Remus, T Nguyen-Khoa, C Raynal, M Roussey, E Girodon
Neonatal screening for cystic fibrosis (CF) can detect infants with elevated immunoreactive trypsinogen (IRT) levels and inconclusive sweat tests and/or CFTR DNA results. These cases of uncertain diagnosis are defined by (1) either the presence of at most one CF-associated cystic fibrosis transmembrane conductance regulator (CFTR) mutation with sweat chloride values between 30 and 59mmol/L or (2) two CFTR mutations with at least one of unknown pathogenic potential and a sweat chloride concentration below 60mmol/L...
December 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29124052/thirty-years-of-sweat-chloride-testing-at-one-referral-center
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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