keyword
MENU ▼
Read by QxMD icon Read
search

cystic fibrosis newborn screening

keyword
https://www.readbyqxmd.com/read/29731357/a-low-cost-and-simple-genetic-screening-for-cystic-fibrosis-provided-by-the-brazilian-public-health-system
#1
Thaiane Rispoli, Simone Martins de Castro, Tarciana Grandi, Mayara Prado, Letícia Filippon, Cláudia Maria Dornelles da Silva, José Eduardo Vargas, Lucia Maria Rosa Rossetti
Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.
May 3, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29692998/early-diagnosis-from-newborn-screening-maximises-survival-in-severe-cystic-fibrosis
#2
Gloria Tridello, Carlo Castellani, Ilaria Meneghelli, Anna Tamanini, Baroukh M Assael
Newborn screening (NBS) for cystic fibrosis (CF) has been gradually established in several countries, but scant data are available on its long-term effects on survival. Our objective was to evaluate the long-term effects of CF NBS on survival. 586 patients, diagnosed and followed between 1971 and 2014 at the Verona CF Centre were analysed. Eligibility was confirmed in 342 cases diagnosed by NBS, 101 with meconium ileus and 143 through symptoms (44 out of 143 were NBS false negatives). The primary end-point was the 30-year overall survival in patients diagnosed by NBS...
April 2018: ERJ Open Research
https://www.readbyqxmd.com/read/29611353/intra-individual-biological-variation-in-sweat-chloride-concentrations-in-cf-cftr-dysfunction-and-healthy-pediatric-subjects
#3
Natalia Cirilli, Valeria Raia, Ilaria Rocco, Fabiola De Gregorio, Antonella Tosco, Laura Salvadori, Angela Ornella Sepe, Roberto Buzzetti, Nadia Minicuci, Giuseppe Castaldo
BACKGROUND: The sweat test is one of the main diagnostic tools used in newborn screening programs and as a confirmatory test, in case of suspect of Cystic Fibrosis (CF). Since sweat chloride (Cl) concentration is also considered an appropriate parameter to explore the efficacy of CFTR modulators in clinical trials, it is crucial to evaluate the biological variability of this test in healthy and pathological conditions. The aim of this pilot study was to determine the intra-individual biological variability of sweat Cl, both in healthy individuals and CF patients and to assess its correlation with diet, season, and menstrual cycle...
April 2, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29595869/implementing-carrier-screening-for-cystic-fibrosis-outside-the-clinic-ethical-analysis-in-the-light-of-the-personalist-view
#4
M L Di Pietro, A A Teleman, F J Gonzalez-Melado, D Zace, F R Di Raimo, V Lucidi, P Refolo
BACKGROUND: Cystic Fibrosis (CF) is an autosomal recessive genetic disease. Two models for screening CF are normally used: newborn screening and population-based CF carrier screening. In turn, there are three main models of population-based CF carrier screening: prenatal carrier screening, preconception carrier screening, and carrier screening outside clinical settings. AIM: To evaluate, in the light of the personalist view, the use of carrier screenings for CF outside the clinic, i...
March 2018: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29572018/strategies-for-newborn-screening-for-cystic-fibrosis-a-systematic-review-of-health-economic-evaluations
#5
REVIEW
Masja Schmidt, Amber Werbrouck, Nick Verhaeghe, Elke De Wachter, Steven Simoens, Lieven Annemans, Koen Putman
BACKGROUND: Early detection of cystic fibrosis through newborn screening has significant clinical benefits. Cost-effectiveness plays an important role in selecting the optimal screening strategy from the many available options. OBJECTIVES: The objectives of this study are (1) to summarize study estimates of cost-effectiveness of cystic fibrosis newborn screening (CFNBS) strategies as compared to other strategies, (2) to assess the quality of the studies identified, and (3) to identify determinants of cost-effectiveness...
March 20, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29543697/nutritional-status-the-first-two-years-of-life-in-cystic-fibrosis-diagnosed-by-newborn-screening
#6
Anne Munck, Rym Boulkedid, Laurence Weiss, Pierre Foucaud, Nathalie Wizla-Derambure, Philippe Reix, François Bremont, Jocelyne Derelle, Julien Schroedt, Corinne Alberti
OBJECTIVE: To evaluate nutritional status and associated factors in a cystic fibrosis (CF) cohort diagnosed by newborn screening and followed up to month 24. METHODS: A prospective longitudinal multicenter study assessing nutritional status according to pancreatic status, feeding modalities, prescriptions, pulmonary outcome and biological nutritional parameters. RESULTS: One-hundred-and-five infants were recruited and 99 completed the study...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29486591/information-needs-of-parents-of-infants-diagnosed-with-cystic-fibrosis-results-of-a-pilot-study
#7
Danielle J Edwards, Kristin Wicking, Wendy Smyth, Linda Shields, Tonia Douglas
This study investigated the information needs, priorities and information-seeking behaviours of parents of infants recently diagnosed with cystic fibrosis (CF) following newborn screening, by piloting the 'Care of Cystic Fibrosis Families Survey'. The questionnaires were posted to eligible parents ( n = 66) attending CF clinics in hospitals in two Australian states; reply-paid envelopes were provided for return of the questionnaires. Twenty-six were returned (response rate 39.4%). The most common questions to which parents required answers during their initial education period related to what CF is, how it is treated and how to care for their child...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29429040/pediatric-and-adult-recommendations-vary-for-sibling-testing-in-cystic-fibrosis
#8
Kimberly L Brown, Patrick A Flume
Four to 5 % of cystic fibrosis (CF) patients are diagnosed as adults and often have subtler symptoms. Their siblings are at genetic risk to also have a subtler disease state. Diagnostic testing is recommended for siblings of newly diagnosed infants, but recommendations are less clear for later diagnoses. This study explored sibling testing recommendations in pediatric and adult practice using a survey that was emailed to CF clinicians. There were 58 respondents. Results revealed that 82.5% of pediatric and 36...
February 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29310632/biomarkers-of-inflammation-in-infants-with-cystic-fibrosis
#9
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
#10
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...
December 0: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29298718/s737f-is-a-new-cftr-mutation-typical-of-patients-originally-from-the-tuscany-region-in-italy
#11
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
#12
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
#13
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
#14
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
#15
Daniel Gelfond, Sonya L Heltshe, Michelle Skalland, James E Heubi, Margaret Kloster, Daniel H Leung, Bonnie W Ramsey, Drucy Borowitz
OBJECTIVES: The aim of the study is 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 (GI) 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 3 days before each visit...
April 2018: 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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
22343
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"