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Cystic fibrosis in infants

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https://www.readbyqxmd.com/read/29698544/the-swiss-cystic-fibrosis-infant-lung-development-scild-cohort
#1
Insa Korten, Elisabeth Kieninger, Sophie Yammine, Nicolas Regamey, Sylvia Nyilas, Kathryn Ramsey, Carmen Casaulta, Philipp Latzin, For The Scild Study Group
The Swiss Cystic Fibrosis Infant Lung Development (SCILD) cohort is a prospective birth cohort study investigating the initiating events of cystic fibrosis lung disease during infancy, and their influence on the trajectory of disease progression throughout early childhood. Infants with cystic fibrosis are recruited throughout Switzerland after diagnosis by new-born screening. It is the first European population-based prospective cohort study of infants with cystic fibrosis taking advantage of a nationwide new-born screening programme...
April 26, 2018: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29684249/standard-head-down-tilt-versus-modified-without-head-down-tilt-postural-drainage-in-infants-and-young-children-with-cystic-fibrosis
#2
REVIEW
Diana A Freitas, Gabriela Ss Chaves, Thayla A Santino, Cibele Td Ribeiro, Fernando Al Dias, Ricardo O Guerra, Karla Mpp Mendonça
BACKGROUND: Postural drainage is used primarily in infants with cystic fibrosis from diagnosis up to the moment when they are mature enough to actively participate in self-administered treatments. However, there is a risk of gastroesophageal reflux associated with this technique.This is an update of a review published in 2015. OBJECTIVES: To compare the effects of standard postural drainage (15º to 45º head-down tilt) with modified postural drainage (15º to 30º head-up tilt) with regard to gastroesophageal reflux in infants and young children up to six years old with cystic fibrosis in terms of safety and efficacy...
March 9, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29643536/-genetic-diagnosis-of-caroli-syndrome-with-autosomal-recessive-polycystic-kidney-disease-a-case-report-and-literature-review
#3
X Y Yang, L P Zhu, X Q Liu, C Y Zhang, Y Yao, Y Wu
This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function...
April 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29571794/non-contrast-enhanced-magnetic-resonance-imaging-detects-mosaic-signal-intensity-in-early-cystic-fibrosis-lung-disease
#4
Patricia Leutz-Schmidt, Mirjam Stahl, Olaf Sommerburg, Monika Eichinger, Michael U Puderbach, Jens-Peter Schenk, Abdulsattar Alrajab, Simon M F Triphan, Hans-Ulrich Kauczor, Marcus A Mall, Mark O Wielpütz
OBJECTIVES: To determine if morphological non-contrast enhanced magnetic resonance imaging (MRI) of the lung is sensitive to detect mosaic signal intensity in infants and preschool children with cystic fibrosis (CF). MATERIALS AND METHODS: 50 infant and preschool CF patients (mean age 3.5 ± 1.4y, range 0-6y) routinely underwent morphological (T2-weighted turbo-spin echo sequence with half-Fourier acquisition, HASTE) and contrast-enhanced 4D perfusion MRI (gradient echo sequence with parallel imaging and echo sharing, TWIST)...
April 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29557081/palivizumab-prophylaxis-for-respiratory-syncytial-virus-in-infants-with-cystic-fibrosis-is-there-a-need
#5
Candice Bjornson, Parco Chan, Abby Li, Bosco Paes, Krista L Lanctôt, Ian Mitchell
Respiratory syncytial virus (RSV) infection in cystic fibrosis (CF) infants is associated with significant morbidities. This study's objective is to evaluate the effectiveness and adverse events related to palivizumab (PVZ) in CF infants. Data on respiratory-related illness (RIH) and RSV hospitalizations (RSVH) were collected retrospectively in CF infants aged < 2 years in Alberta, Canada, from 2000 to 2017. Logistic regression models were used to compare the odds of RSVH or RIH in PVZ infants from the Canadian registry of palivizumab (CARESS) versus untreated (UPVZ) infants from Alberta, after adjusting for potential confounders...
June 2018: European Journal of Clinical Microbiology & Infectious Diseases
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/29520692/clinical-characterization-and-diagnosis-of-cystic-fibrosis-through-exome-sequencing-in-chinese-infants-with-bartter-syndrome-like-hypokalemia-alkalosis
#7
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
https://www.readbyqxmd.com/read/29487998/hyperthyrotropinemia-in-newly-diagnosed-cystic-fibrosis-patients-with-pancreatic-insufficiency-reversed-by-enzyme-therapy
#8
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...
May 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29486591/information-needs-of-parents-of-infants-diagnosed-with-cystic-fibrosis-results-of-a-pilot-study
#9
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/29467455/lack-of-cystic-fibrosis-transmembrane-conductance-regulator-disrupts-fetal-airway-development-in-pigs
#10
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
https://www.readbyqxmd.com/read/29432279/13c-mixed-triglyceride-breath-test-and-fecal-elastase-as-an-indirect-pancreatic-function-test-in-cystic-fibrosis-infants
#11
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 fecal 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 noninvasive, nonradioactive C-mixed triglyceride (MTG) breath test and fecal elastase-1 (FE1) in comparison with the 72-hour fecal fat assessment in infants with CF...
May 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29429040/pediatric-and-adult-recommendations-vary-for-sibling-testing-in-cystic-fibrosis
#12
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/29418075/infant-multiple-breath-washout-using-a-new-commercially-available-device-ready-to-replace-the-previous-setup
#13
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...
May 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29368589/expanded-carrier-screening-and-preimplantation-genetic-diagnosis-in-a-couple-who-delivered-a-baby-affected-with-congenital-factor-vii-deficiency
#14
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
https://www.readbyqxmd.com/read/29346420/initial-acquisition-and-succession-of-the-cystic-fibrosis-lung-microbiome-is-associated-with-disease-progression-in-infants-and-preschool-children
#15
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
https://www.readbyqxmd.com/read/29344711/adult-picc-device-may-be-used-as-a-tunnelled-central-venous-catheter-in-children
#16
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
https://www.readbyqxmd.com/read/29310632/biomarkers-of-inflammation-in-infants-with-cystic-fibrosis
#17
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/29274129/newborn-screening-for-galactosaemia
#18
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/29228933/pulmonary-exacerbations-and-clinical-outcomes-in-a-longitudinal-cohort-of-infants-and-preschool-children-with-cystic-fibrosis
#19
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
https://www.readbyqxmd.com/read/29225146/microbial-diversity-within-the-airway-microbiome-in-chronic-pediatric-lung-diseases
#20
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
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