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Cystic fibrosis in infants

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
Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou
Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF...
March 9, 2018: Frontiers of Medicine
Aris Giannakopoulos, Anni Katelaris, Maria Noni, Theodore Karakonstantakis, Christina Kanaka-Gantenbein, Stavros Doudounakis
Patients with cystic fibrosis (CF) commonly present with an elevated TSH concentration, suggesting subclinical hypothyroidism. Its relation to concomitant pancreatic insufficiency and its natural course upon initiation of enzyme replacement have not been adequately studied. Herein, we investigated the thyroid function in newly diagnosed infants with CF and monitored the course of thyroid function response to pancreatic enzyme substitution treatment. Fourteen, newly diagnosed infants with CF and pancreatic insufficiency, were followed every 6-8 weeks for 6 months ensuing onset of pancreatic enzyme substitution therapy...
February 27, 2018: European Journal of Pediatrics
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
David K Meyerholz, David A Stoltz, Nick D Gansemer, Sarah E Ernst, Daniel P Cook, Matthew D Strub, Erica N LeClair, Carrie K Barker, Ryan J Adam, Mariah R Leidinger, Katherine N Gibson-Corley, Philip H Karp, Michael J Welsh, Paul B McCray
Loss of cystic fibrosis transmembrane conductance regulator (CFTR) function causes cystic fibrosis (CF), predisposing the lungs to chronic infection and inflammation. In young infants with CF, structural airway defects are increasingly recognized before the onset of significant lung disease, which suggests a developmental origin and a possible role in lung disease pathogenesis. The role(s) of CFTR in lung development is unclear and developmental studies in humans with CF are not feasible. Young CF pigs have structural airway changes and develop spontaneous postnatal lung disease similar to humans; therefore, we studied lung development in the pig model (non-CF and CF)...
February 21, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
Dorothea Stark Kent, Thomas Remer, Caron Blumenthal, Sharon Hunt, Sharon Simonds, Sarah Egert, Kevin J Gaskin
BACKGROUND: The 'gold standard' test for the indirect determination of pancreatic function status in infants with cystic fibrosis (CF), the 72-hour faecal fat excretion test, is likely to become obsolete in the near future. Alternative indirect pancreatic function tests with sufficient sensitivity and specificity to determine pancreatic phenotype need further evaluation in CF infants. OBJECTIVE: Evaluation of the clinical utility of both the non-invasive, non-radioactive C-mixed triglyceride (MTG) breath test and fecal elastase-1 (FE1) in comparison with the 72-hour faecal fat assessment in infants with CF...
February 10, 2018: Journal of Pediatric Gastroenterology and Nutrition
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
Anne-Christianne Kentgens, Marisa Guidi, Insa Korten, Lena Kohler, Severin Binggeli, Florian Singer, Philipp Latzin, Pinelopi Anagnostopoulou
INTRODUCTION: Multiple breath washout (MBW) is a sensitive test to measure lung volumes and ventilation inhomogeneity from infancy on. The commonly used setup for infant MBW, based on ultrasonic flowmeter, requires extensive signal processing, which may reduce robustness. A new setup may overcome some previous limitations but formal validation is lacking. AIM: We assessed the feasibility of infant MBW testing with the new setup and compared functional residual capacity (FRC) values of the old and the new setup in vivo and in vitro...
February 8, 2018: Pediatric Pulmonology
Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. METHODS: After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes...
January 24, 2018: BMC Medical Genetics
Marianne S Muhlebach, Bryan T Zorn, Charles R Esther, Joseph E Hatch, Conor P Murray, Lidija Turkovic, Sarath C Ranganathan, Richard C Boucher, Stephen M Stick, Matthew C Wolfgang
The cystic fibrosis (CF) lung microbiome has been studied in children and adults; however, little is known about its relationship to early disease progression. To better understand the relationship between the lung microbiome and early respiratory disease, we characterized the lower airways microbiome using bronchoalveolar lavage (BAL) samples obtained from clinically stable CF infants and preschoolers who underwent bronchoscopy and chest computed tomography (CT). Cross-sectional samples suggested a progression of the lower airways microbiome with age, beginning with relatively sterile airways in infancy...
January 2018: PLoS Pathogens
Brooke T Lawson, Ian A Zealley
PURPOSE: Central venous access in children, in particular small children and infants, is challenging. We have developed a technique employing adult peripherally inserted central venous catheters (PICCs) as tunnelled central venous catheters (TCVCs) in children. The principal advantage of this novel technique is that the removal technique is less complex than that of conventional cuffed TCVCs. The catheter can be removed simply by being pulled out and does not require general anaesthesia...
January 17, 2018: Cardiovascular and Interventional Radiology
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
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
Jordana E Hoppe, Brandie D Wagner, Scott D Sagel, Frank J Accurso, Edith T Zemanick
BACKGROUND: Pulmonary exacerbations (PEx) in school aged children and adults with cystic fibrosis (CF) lead to increased morbidity and lung function decline. However, the effect of exacerbations in young children with CF is not fully understood. We sought to characterize the frequency and clinical impact of PEx in a pilot study of infants and pre-school aged children with CF. METHODS: Thirty young children with CF [median (range) 1.5 years (0.2-4.9)] were prospectively followed for 2 years...
December 11, 2017: BMC Pulmonary Medicine
Andrea Hahn, Stephanie Warnken, Marcos Pérez-Losada, Robert J Freishtat, Keith A Crandall
The study of the airway microbiome in children is an area of emerging research, especially in relation to the role microbial diversity may play in acute and chronic inflammation. Three such pediatric airway diseases include cystic fibrosis, asthma, and chronic lung disease of prematurity. In cystic fibrosis, the presence of Pseudomonas spp. is associated with decreased microbial diversity. Decreasing microbial diversity is also associated with poor lung function. In asthma, early viral infections appear to drive changes in bacterial diversity which may be associated with asthma risk...
December 7, 2017: Infection, Genetics and Evolution
Marika Bogdani, Scott M Blackman, Cecilia Ridaura, Jean-Pierre Bellocq, Alvin C Powers, Lydia Aguilar-Bryan
Cystic fibrosis (CF)-related diabetes (CFRD) is thought to result from beta-cell injury due in part to pancreas exocrine damage and lipofibrosis. CFRD pancreata exhibit reduced islet density and altered cellular composition. To investigate a possible etiology, we tested the hypothesis that such changes are present in CF pancreata before the development of lipofibrosis. We evaluated pancreas and islet morphology in tissues from very young CF children (<4 years of age), and adult patients with CF and CFRD...
December 8, 2017: Scientific Reports
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
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
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
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
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