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Cystic fibrosis in infants

Ashleigh A McGirr, Kevin L Schwartz, Upton Allen, Melinda Solomon, Beate Sander
Background Children with cystic fibrosis (CF) are at higher risk of severe respiratory syncytial virus (RSV) infection, which can lead to a decline in lung function. A monoclonal antibody, palivizumab (PMB), effectively prevents RSV hospitalizations; however, the high cost of PMB, approximately C$10,000 per patient per RSV season, limits its widespread use. We assess the cost-effectiveness of PMB prophylaxis in CF children less than 2 years of age from the Canadian healthcare payer's perspective. Methods In 2014, a Markov cohort model of CF disease and infant RSV infections in the Canadian setting was developed based on literature data...
October 21, 2016: Human Vaccines & Immunotherapeutics
Dana T Anton-Pǎduraru, Amalia M Bontea, Ioana Cernescu, Smaranda Diaconescu
No abstract text is available yet for this article.
December 2016: Minerva Pediatrica
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
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
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
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
Mirjam Stahl, Mark O Wielpütz, Simon Y Graeber, Cornelia Joachim, Olaf Sommerburg, Hans-Ulrich Kauczor, Michael Puderbach, Monika Eichinger, Marcus A Mall
RATIONALE: Early onset and progression of lung disease in children with cystic fibrosis (CF) indicates that sensitive noninvasive outcome measures are needed for diagnostic monitoring and early intervention clinical trials. The lung clearance index (LCI) and chest magnetic resonance imaging (MRI) were shown to detect early lung disease in CF, however, the relationship between the two measures remains unknown. OBJECTIVES: To correlate the LCI with abnormalities detected by MRI and compare the sensitivity of the two techniques to detect responses to therapy for pulmonary exacerbations in children with CF...
August 30, 2016: American Journal of Respiratory and Critical Care Medicine
Mark Safe, Jemma Cho, Usha Krishnan
OBJECTIVE: The aim of the study was to evaluate and compare multichannel intraluminal impedance-pH (MII-pH) monitoring with standard investigations including pH testing for detecting gastroesophageal reflux disease (GERD) in children. METHODS: A retrospective review of all MII-pH studies performed between July 2007 and March 2013 at Sydney Children's Hospital. Results from MII-pH testing, esophagogastroduodenoscopy (EGD), barium meal and pepsin assay, symptoms, underlying comorbidities, age, and medication usage were evaluated...
November 2016: Journal of Pediatric Gastroenterology and Nutrition
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
K P Srikanth, Inusha Panigrahi, Babu Ram Thapa, Kim Vaiphei
We present a rare presentation of cystic fibrosis with neonatal cholestasis. Histological features of mucoviscidosis were present in liver involving the biliary tract, intestinal mucosa, pancreas, and lung. Besides, there was a rare association with autosomal dominant type of polycystic renal disease.
July 2016: Indian Journal of Pathology & Microbiology
Tugba Sismanlar, Ayşe Tana Aslan, Mehmet Köse, Sevgi Pekcan, Fatih Süheyl Ezgü, Işıl İrem Budakoğlu, İdil Yenicesu
UNLABELLED: Severe anemia is reported to occur rarely in patients with cystic fibrosis (CF). This study aimed to determine the factors associated with early severe anemia in infants with CF. This study included 231 infants with CF from 3 pediatric CF centers ten year period that were retrospectively reviewed in terms of severe anemia as the first sign of CF. Factors that could affect anemia, such as age, pancreatic insufficiency, mutations, vitamin A and E, and albumin level were evaluated...
September 2016: European Journal of Pediatrics
Per Magnus Gustafsson, Paul David Robinson, Anders Lindblad, Daniel Oberli
Multiple breath inert gas washout (MBW) is ideally suited for early detection and monitoring of serious lung disease, such as cystic fibrosis, in infants and young children. Validated commercial options for the MBW technique are limited, and suitability of Nitrogen (N2) based MBW is of concern given the detrimental effect of exposure to pure O2 on infant breathing pattern. We propose novel methodology using commercially available N2 MBW equipment to facilitate 4% sulfur hexafluoride (SF6) multiple breath inert gas washin and washout suitable for the infant age range...
August 4, 2016: Journal of Applied Physiology
Robin Z Hayeems, Fiona A Miller, Carolyn J Barg, Yvonne Bombard, Elizabeth Kerr, Karen Tam, June C Carroll, Beth K Potter, Pranesh Chakraborty, Christine Davies, Jennifer Milburn, Sarah Patton, Jessica P Bytautas, Louise Taylor, April Price, Tanja Gonska, Katherine Keenan, Felix Ratjen, Astrid Guttmann
BACKGROUND: The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS: Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants with FP CF NBS results 2 to 3 months after confirmatory testing at Ontario's largest follow-up center, and from a randomly selected control sample of mothers of screen negative infants from the same region...
September 2016: Pediatrics
Margaret Rosenfeld, Marci K Sontag, Clement L Ren
The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults...
August 2016: Pediatric Clinics of North America
Yaling Yi, Andrew W Norris, Kai Wang, Xingshen Sun, Aliye Uc, Antoinette Moran, John F Engelhardt, Katie Larson Ode
RATIONALE: In cystic fibrosis, abnormal glucose tolerance is associated with decreased lung function and worsened outcomes. Translational evidence indicates that abnormal glucose tolerance may begin in early life. OBJECTIVES: To determine whether very young children with cystic fibrosis have increased abnormal glucose tolerance prevalence compared with control subjects. The secondary objective was to compare area under the curve for glucose and insulin in children with cystic fibrosis with control subjects...
October 15, 2016: American Journal of Respiratory and Critical Care Medicine
Frank A J A Bodewes, Henkjan J Verkade, Micheal Wilschanski
The phenotype of cystic fibrosis includes a wide variety of clinical and biochemical gastrointestinal presentations. These gastrointestinal characteristics of the disease have come under renewed interest as potential outcome measures and clinical endpoints for therapeutic trials in cystic fibrosis. Established gastrointestinal clinical endpoints, like e.g. fecal elastase-1, are already used in trials. Other potential gastrointestinal outcome measures gather more scientific interest for evaluation in future trials...
July 21, 2016: Pediatric Pulmonology
Karen A Robinson, Olaide A Odelola, Ian J Saldanha
BACKGROUND: Respiratory syncytial virus infection causes acute lung infection in infants and young children worldwide, resulting in considerable morbidity and mortality. Children with cystic fibrosis are prone to recurrent lung inflammation, bacterial colonisation and subsequent chronic airway disease, putting them at risk for severe respiratory syncytial virus infections requiring intensive care and respiratory support. No treatment currently exists, hence prevention is important. Palivizumab is effective in reducing respiratory syncytial virus hospitalisation rates and is recommended for prophylaxis in high-risk children with other conditions...
2016: Cochrane Database of Systematic Reviews
Fiona J Whelan, Michael G Surette
No abstract text is available yet for this article.
August 2016: Lancet Respiratory Medicine
Ibrahim Abdulhamid, Mary Kleyn, Carrie Langbo, Myrtha Gregoire-Bottex, John Schuen, Krithika Shanmugasundaram, Samya Z Nasr
Objective. Sweat collected for testing should have quantity not sufficient (QNS) rate of ≤10% in babies ≤3 months of age. Michigan (MI) cystic fibrosis (CF) centers' QNS rates were 12% to 25% in 2009. This project was initiated to reduce sweat QNS rates in MI. Methods/Steps. (a) Each center's sweat testing procedures were reviewed by a consultant. (b) Each center received a report with recommendations to improve QNS rates. (c) Technicians visited other participating centers to observe their procedures. Results...
2014: Global Pediatric Health
Barbara Egger, Kerstin Jost, Pinelopi Anagnostopoulou, Sophie Yammine, Florian Singer, Carmen Casaulta, Urs Frey, Philipp Latzin
BACKGROUND: Multiple-breath washout (MBW) is increasingly used for infant lung function testing. Current guidelines recommend calculating lung clearance index (LCI) and functional residual capacity (FRC) at 2.5% of normalized tracer gas concentration, without clear recommendation for moment ratios (MR). Whether the 2.5% cut-off has the highest discriminative power to detect ventilation inhomogeneity in infants with lung diseases is unknown. METHODS: We used sulfur-hexafluoride MBW measurements from 32 infants with cystic fibrosis, 32 preterm infants, and 32 healthy controls at postmenstrual age of 41-54 weeks...
May 23, 2016: Pediatric Pulmonology
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