Abstract:
BACKGROUND:In cystic fibrosis (CF), the spectrum and frequency of CFTR variants differ by geography and race/ethnicity. CFTR variants in White patients are well-described compared with Latino patients. No studies of CFTR variants have been done in patients with CF in the Dominican Republic or Puerto Rico. METHODS:CFTR was sequenced in 61 Dominican Republican patients and 21 Puerto Rican patients with CF and greater than 60 mmol/L sweat chloride. The spectrum of CFTR variants was identified and the proportion of patients with 0, 1, or 2 CFTR variants identified was determined. The functional effects of identified CFTR variants were investigated using clinical annotation databases and computational prediction tools. RESULTS:Our study found 10% of Dominican patients had two CFTR variants identified compared with 81% of Puerto Rican patients. No CFTR variants were identified in 69% of Dominican patients and 10% of Puerto Rican patients. In Dominican patients, there were 19 identified CFTR variants, accounting for 25 out of 122 disease alleles (20%). In Puerto Rican patients, there were 16 identified CFTR variants, accounting for 36 out of 42 disease alleles (86%) in Puerto Rican patients. Thirty CFTR variants were identified overall. The most frequent variants for Dominican patients were p.Phe508del and p.Ala559Thr and for Puerto Rican patients were p.Phe508del, p.Arg1066Cys, p.Arg334Trp, and p.I507del. CONCLUSIONS:In this first description of the CFTR variants in patients with CF from the Dominican Republic and Puerto Rico, there was a low detection rate of two CFTR variants after full sequencing with the majority of patients from the Dominican Republic without identified variants.
journal_name
Pediatr Pulmonoljournal_title
Pediatric pulmonologyauthors
Zeiger AM,McGarry ME,Mak ACY,Medina V,Salazar S,Eng C,Liu AK,Oh SS,Nuckton TJ,Jain D,Blackwell TW,Kang HM,Abecasis G,Oñate LC,Seibold MA,Burchard EG,Rodriguez-Santana Jdoi
10.1002/ppul.24549subject
Has Abstractpub_date
2020-02-01 00:00:00pages
533-540issue
2eissn
8755-6863issn
1099-0496journal_volume
55pub_type
杂志文章abstract:RATIONALE AND OBJECTIVES:Little is known about molecular changes in lungs of fetal rabbits with surgically induced diaphragmatic hernia (DH). Therefore, we examined in this model gene expressions of pivotal molecules for the developing lung. METHODS:At day 23 of gestation, DH was created in 12 fetuses from 4 does. Bot...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22512
更新日期:2012-11-01 00:00:00
abstract::Impaired respiratory function has been found frequently in ex-premature children, but it is unclear which specific factors influence this impairment the most. The aim of this study was to determine the importance of the contributions of birth weight, gestational age, neonatal respiratory disease, and its treatment on ...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/1099-0496(200007)30:1<32::aid-ppul6>3.0.co
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abstract::The jet nebulizer is a common device used for administering aerosol medication in young children. However, compared to a metered dose inhaler-spacer (MDI-spacer), it takes more time and personnel. This study aimed to compare the efficacy of salbutamol aerosol therapy given via these two devices in young wheezing child...
journal_title:Pediatric pulmonology
pub_type: 临床试验,杂志文章,随机对照试验
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abstract::The clinical course of sarcoidosis in children has not been well defined. Eight children with symptomatic sarcoidosis included in this study underwent pulmonary function tests and bronchoscopy with bronchoalveolar lavage (BAL) before treatment and during steroid therapy. At the start of therapy, functional parameters,...
journal_title:Pediatric pulmonology
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doi:10.1002/ppul.1950160109
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abstract::Drug reaction with eosinophilia and systemic symptom (DRESS) syndrome is a rare and severe side-effect, mainly described after intake of anticonvulsants, allopurinol, or antibiotics. It usually begins within 2 months after drug introduction. Symptoms include cutaneous rash, hematologic abnormalities, and internal orga...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
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abstract::The incidence of necrotizing pneumonia and empyema complicated by bronchopleural fistula is rising. We describe the case of a 2-year-old boy who presented with empyema thoracis and necrotizing pneumonia who developed a bronchopleural fistula. At initial thoracotomy for decortication, necrotic lung was found and resect...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22649
更新日期:2013-06-01 00:00:00
abstract:INTRODUCTION:Lung disease in cystic fibrosis (CF) begins early in life but the capabilities for detecting abnormalities of pulmonary dysfunction in children remain limited. OBJECTIVE:The study aimed to evaluate the early progression of lung function by the analysis of pulmonary hyperinflation, ventilation inhomogeneit...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
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abstract:INTRODUCTION:The efficacy of nebulized hypertonic saline (HS) therapy for shortening hospital length of stay (LOS) or improving bronchiolitic symptoms remains controversial. Most studies enrolled small numbers of subjects and did not consider the role of respiratory syncytial virus (RSV), the most common cause of acute...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2018-03-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23507
更新日期:2017-01-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24013
更新日期:2018-07-01 00:00:00
abstract::We evaluated 4 patients who developed severe, symptomatic stridor during maximal cardiopulmonary exercise testing, all referred due to exercise-related dyspnea. All underwent resting, unsedated transnasal fiberoptic laryngoscopy and had normal findings. Four patients performed repeat maximal exercise testing with fibe...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20076
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVES:Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract infections worldwide, causing disproportionate morbidity and mortality in infants and children. Infants with stronger Th1 responses have less severe disease, yet little is known about the infant T-cell response within the air spa...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23911
更新日期:2018-02-01 00:00:00
abstract::Electronic compensation to overcome thermal artifacts during plethysmographic estimations of airway resistance is now used routinely in adults and school-age children, and was shown to be a valuable means of discriminating airway function between preschool children with and without lung disease. A similar system is no...
journal_title:Pediatric pulmonology
pub_type: 临床试验,杂志文章
doi:10.1002/ppul.20217
更新日期:2005-07-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23348
更新日期:2016-05-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/(sici)1099-0496(199712)24:6<391::aid-ppul3
更新日期:1997-12-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/(SICI)1099-0496(199612)22:6<364::AID-PPUL5
更新日期:1996-12-01 00:00:00
abstract:BACKGROUND:Chronic colonization with Pseudomonas (P.) aeruginosa worsens the prognosis of cystic fibrosis (CF) patients. This study aims to analyze the functional properties of neutrophils in CF patients with P. aeruginosa colonization. METHODS:Patients with CF (n = 16) were grouped by positivity of P. aeruginosa in s...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.25294
更新日期:2021-01-29 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22872
更新日期:2014-06-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章,评审
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更新日期:2007-01-01 00:00:00
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journal_title:Pediatric pulmonology
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更新日期:2018-12-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950200610
更新日期:1995-12-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22867
更新日期:2014-06-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/(sici)1099-0496(200006)29:6<476::aid-ppul1
更新日期:2000-06-01 00:00:00
abstract:BACKGROUND:Magnetic Resonance Imaging (MRI) techniques to image the larynx have evolved rapidly into a promising and safe imaging modality, without need for sedation or ionizing radiation. MRI is therefore of great interest to image pediatric laryngeal diseases. Our aim was to review MRI developments relevant for the p...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
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更新日期:2019-04-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
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更新日期:2011-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:2003-08-01 00:00:00
abstract::C-reactive protein (CRP) concentrations were evaluated in 9 cystic fibrosis (CF) patients with acute pulmonary exacerbations and 14 patients with acute exacerbations of asthma without any symptoms of an acute infection. CRP concentrations were serially evaluated over the course of therapy in CF patients and compared w...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950200403
更新日期:1995-10-01 00:00:00
abstract::Foreign-body aspiration (FBA) is a commonly encountered serious problem during childhood, accounting for 7% of lethal accidents in children aged 1-3 years. Bronchoscopy is indicated when a clear history of FBA is present, but the history may be unreliable. Clinical manifestations can be seen in various diseases, and w...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
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更新日期:2005-02-01 00:00:00
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journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23374
更新日期:2016-09-01 00:00:00
abstract:UNLABELLED:Vascular rings (VR) may produce extrinsic compression of trachea and/or esophagus. Diagnosis relies on nonspecific clinical data from resulting compression and image studies, mainly angiography, computed tomography, and cardiovascular MRI. Because of their low incidence, diagnosis is often missed. The role o...
journal_title:Pediatric pulmonology
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更新日期:2010-06-01 00:00:00