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Cystic fibrosis in infants

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https://www.readbyqxmd.com/read/29122915/elevated-lung-clearance-index-in-infants-with-cystic-fibrosis-shortly-after-birth
#1
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
#2
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
#3
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/29105184/differentiation-between-cystic-biliary-atresia-and-choledochal-cyst-a-retrospective-analysis
#4
Jue Tang, Dan Zhang, Wei Liu, Ji-Xiao Zeng, Jia-Kang Yu, Yi Gao
AIM: Cystic biliary atresia (CBA) can be easily misdiagnosed as choledochal cyst (CC). Some patients have already progressed to severe liver fibrosis and missed the optimal surgical time, when the differential diagnosis is made. We aim to determine the differentiation between CBA and CC, and to validate the value of aspartate aminotransferase-to-platelet ratio index (APRI) in the assessment of liver fibrosis and prediction of post-operative outcome for infants with biliary cystic malformations (BCMs)...
November 3, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29026575/cystic-fibrosis-and-silver-russell-syndrome-due-to-a-partial-maternal-isodisomy-of-chromosome-7
#5
Lonneke C Gerbrands, Eric G Haarman, Margot A Hankel, Martijn J J Finken
If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver-Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small-for-gestational-age birth.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29025964/false-positive-newborn-screening-for-cystic-fibrosis-and-health-care-use
#6
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/28994899/prophylactic-antibiotics-for-preventing-pneumococcal-infection-in-children-with-sickle-cell-disease
#7
REVIEW
Angela E Rankine-Mullings, Shirley Owusu-Ofori
BACKGROUND: Persons with sickle cell disease (SCD) are particularly susceptible to infection. Infants and very young children are especially vulnerable. The 'Co-operative Study of Sickle Cell Disease' observed an incidence rate for pneumococcal septicaemia of 10 per 100 person years in children under the age of three years. Vaccines, including customary pneumococcal vaccines, may be of limited use in this age group. Therefore, prophylactic penicillin regimens may be advisable for this population...
October 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28991007/the-optimal-approach-to-nutrition-and-cystic-fibrosis-latest-evidence-and-recommendations
#8
Francis M Hollander, Nicole M de Roos, Harry G M Heijerman
PURPOSE OF REVIEW: Cystic fibrosis (CF) is a progressive genetic disease that affects multiple organ systems. Therapy is directed to maintain and optimize nutritional status and pulmonary function, as these are key factors in survival. In this review, the most recent findings regarding nutritional management associated with pulmonary function and outcome will be explored. RECENT FINDINGS: Evidence-based and expert-based guidelines emphasize the need for adequate nutritional intake to improve nutritional status...
November 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28982600/oxidative-stress-in-early-cystic-fibrosis-lung-disease-is-exacerbated-by-airway-glutathione-deficiency
#9
Nina Dickerhof, John F Pearson, Teagan S Hoskin, Luke J Berry, Rufus Turner, Peter D Sly, Anthony J Kettle
Neutrophil-derived myeloperoxidase (MPO) is recognized as a major source of oxidative stress at the airway surface of a cystic fibrosis (CF) lung where, despite limited evidence, the antioxidant glutathione is widely considered to be low. The aims of this study were to establish whether oxidative stress or glutathione status are associated with bronchiectasis and whether glutathione deficiency is inherently linked to CF or a consequence of oxidative stress. MPO was measured by ELISA in 577 bronchoalveolar lavage samples from 205 clinically-phenotyped infants and children with CF and 58 children without CF (ages 0...
October 2, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28978796/guanylate-cyclase-2c-agonism-corrects-cftr-mutants
#10
Kavisha Arora, Yunjie Huang, Kyushik Mun, Sunitha Yarlagadda, Nambirajan Sundaram, Marco M Kessler, Gerhard Hannig, Caroline B Kurtz, Inmaculada Silos-Santiago, Michael Helmrath, Joseph J Palermo, John P Clancy, Kris A Steinbrecher, Anjaparavanda P Naren
Cystic fibrosis (CF) is a genetic disorder in which epithelium-generated fluid flow from the lung, intestine, and pancreas is impaired due to mutations disrupting CF transmembrane conductance regulator (CFTR) channel function. CF manifestations of the pancreas and lung are present in the vast majority of CF patients, and 15% of CF infants are born with obstructed gut or meconium ileus. However, constipation is a significantly underreported outcome of CF disease, affecting 47% of the CF patients, and management becomes critical in the wake of increasing life span of CF patients...
October 5, 2017: JCI Insight
https://www.readbyqxmd.com/read/28952009/psychosocial-distress-and-knowledge-deficiencies-in-parents-of-children-in-ireland-who-carry-an-altered-cystic-fibrosis-gene
#11
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/28871575/inert-gas-washout-background-and-application-in-various-lung-diseases
#12
Jakob Usemann, Sophie Yammine, Florian Singer, Philipp Latzin
Multiple breath inert gas washout (MBW) is a lung function technique to measure ventilation inhomogeneity. The technique was developed more than 60 years ago, but not much used for many decades. Technical improvements, easy protocols and higher sensitivity compared with standard lung function tests in some disease groups have led to a recent renaissance of MBW. The lung clearance index (LCI) is a common measure derived from MBW tests, and offers information on lung pathology complementary to that from conventional lung function tests such as spirometry...
September 5, 2017: Swiss Medical Weekly
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
#13
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/28852705/the-sweat-metabolome-of-screen-positive-cystic-fibrosis-infants-revealing-mechanisms-beyond-impaired-chloride-transport
#14
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/28811149/three-center-feasibility-of-lung-clearance-index-in-infants-and-preschool-children-with-cystic-fibrosis-and-other-lung-diseases
#15
Mirjam Stahl, Simon Y Graeber, Cornelia Joachim, Sandra Barth, Isabell Ricklefs, Gesa Diekmann, Matthias V Kopp, Lutz Naehrlich, Marcus A Mall
BACKGROUND: Lung clearance index (LCI) detects early ventilation inhomogeneity and has been suggested as sensitive endpoint in multicenter intervention trials in infants and preschoolers with cystic fibrosis (CF). However, the feasibility of multicenter LCI in this age group has not been determined. We, therefore, investigated the feasibility of LCI in infants and preschoolers with and without CF in a three-center setting. METHODS: Following central training, standardized SF6-MBW measurements were performed in 73 sedated children (10 controls, 49 with CF and 14 with other lung diseases), mean age 2...
August 12, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28745925/clinical-care-of-children-with-primary-ciliary-dyskinesia
#16
Jane S Lucas, Mikkel Christian Alanin, Samuel Collins, Amanda Harris, Helle Krogh Johansen, Kim G Nielsen, Jean Francois Papon, Phil Robinson, Woolf T Walker
Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF)...
August 2, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28716479/lower-exhaled-nitric-oxide-in-infants-with-cystic-fibrosis-compared-to-healthy-controls
#17
Insa Korten, Margot Liechti, Florian Singer, Gaudenz Hafen, Isabelle Rochat, Pinelopi Anagnostopoulou, Dominik Müller-Suter, Jakob Usemann, Alexander Moeller, Urs Frey, Philipp Latzin, Carmen Casaulta
Exhaled nitric oxide (FENO) is a well-known, non-invasive airway biomarker. In patients with Cystic Fibrosis (CF) FENO is decreased. To understand if reduced FENO is primary related to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) dysfunction or an epiphenomenon of chronic inflammation, we measured FENO in 34 infants with CF prior to clinical symptoms and in 68 healthy controls. FENO was lower in CF compared to controls (p=0.0006) and the effect was more pronounced in CF infants without residual CFTR function (p<0...
July 14, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28712180/causes-of-chronic-non-infectious-diarrhoea-in-infants-less-than-6-months-of-age-rarely-recognized-entities
#18
Iqra Mushtaq, Huma Ashraf Cheema, Hassan Suleman Malik, Nadia Waheed, Muhammad Almas Hashmi, Hassan Suleman Malik
BACKGROUND: Non-infectious causes of chronic diarrhoea are important and easily missed. The study was done with the objectives to identify different causes of chronic non-infectious diarrhoea in infants less than 6 months of age. METHODS: All patients less than 6 months of age presenting for the first time to a Paediatric Gastroenterology tertiary care centre with a history of chronic diarrhoea and negative stool cultures were enrolled over a period of 8 months...
January 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28708417/association-of-antibiotics-airway-microbiome-and-inflammation-in-infants-with-cystic-fibrosis
#19
Jessica E Pittman, Kristine M Wylie, Kathryn Akers, Gregory A Storch, Joseph Hatch, Jane Quante, Katherine B Frayman, Nadeene Clarke, Miriam Davis, Stephen M Stick, Graham L Hall, Gregory Montgomery, Sarath Ranganathan, Stephanie D Davis, Thomas W Ferkol
RATIONALE: The underlying defect in the cystic fibrosis (CF) airway leads to defective mucociliary clearance and impaired bacterial killing, resulting in endobronchial infection and inflammation that contributes to progressive lung disease. Little is known about the respiratory microbiota in the early CF airway and its relationship to inflammation. OBJECTIVES: To examine the bacterial microbiota and inflammatory profiles in bronchoalveolar lavage fluid and oropharyngeal secretions in infants with CF...
October 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28653300/defining-the-incidence-and-associated-morbidity-and-mortality-of-severe-respiratory-syncytial-virus-infection-among-children-with-chronic-diseases
#20
REVIEW
Paolo Manzoni, Josep Figueras-Aloy, Eric A F Simões, Paul A Checchia, Brigitte Fauroux, Louis Bont, Bosco Paes, Xavier Carbonell-Estrany
INTRODUCTION: REGAL (RSV Evidence-a Geographical Archive of the Literature) has provided a comprehensive review of the published evidence in the field of respiratory syncytial virus (RSV) in Western countries over the last 20 years. This review covers the risk and burden of RSV infection in children with underlying medical conditions or chronic diseases (excluding prematurity and congenital heart disease). METHODS: A systematic review of publications between January 1, 1995 and December 31, 2015 across PubMed, Embase, The Cochrane Library, and Clinicaltrials...
September 2017: Infectious Diseases and Therapy
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