Abstract:
BACKGROUND:Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University. METHODS:Two hundred fifty previously diagnosed CF patients were included in the study. CFTR gene exons 1 to 27 were amplified by a polymerase chain reaction and whole DNA sequencing was performed. Duplications and deletions were investigated by the multiplex ligation-dependent probe amplification (MLPA) technique in patients with one or two unidentified mutations in sequence analysis. RESULTS:CFTR mutation analysis revealed 80 mutations and five large deletions were present in our study population. The five most common mutations were (delta) F508 (c.1521-1523delCTT) (28.4%), 1677delTA (c.1545-1546delTA) (6.4%), 2789 + 5G- > A (c.2657 + 5G > A) (5.8%), N1303K (c.3909C > G) (2.4%), and c.2183AA- > G (c.2051-2052delAAinsG) (4.0%). Large deletions were found in 16 patients. Four novel mutations and two novel deletions were detected in this study. CONCLUSIONS:We have identified four novel mutations and two novel deletions using next-generation DNA sequencing and the MLPA technique and obtained an overall mutation detection rate of 91.4%. Detection of novel variants in CF patients will assist in genetic counseling and in determining appropriate patients for new therapies.
journal_name
Pediatr Pulmonoljournal_title
Pediatric pulmonologyauthors
Atag E,Bas Ikizoglu N,Ergenekon AP,Gokdemir Y,Eralp EE,Ata P,Ersu R,Karakoc F,Karadag Bdoi
10.1002/ppul.24299subject
Has Abstractpub_date
2019-06-01 00:00:00pages
743-750issue
6eissn
8755-6863issn
1099-0496journal_volume
54pub_type
杂志文章abstract:OBJECTIVE:While the impact of fertility treatments on the perinatal outcome is well established, the long-term effects on offspring are yet to be determined. The current study aimed to investigate the risk of long-term obstructive sleep apnea (OSA) among children born following in vitro fertilization (IVF) and ovulatio...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24428
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVES:We sought to describe the phenotype for patients with P.I.G. including presentation, evaluation, cardiac co-morbidities, high resolution computed tomography findings, and outcomes. METHODS:With institutional review board approval, we performed a retrospective review of patients with biopsy-proven P.I.G. Bio...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24123
更新日期:2018-12-01 00:00:00
abstract::Our objective was to determine the repeatability of bronchial responsiveness to mannitol dry powder (MDP) as an objective marker of asthma in children. MDP challenge was performed in children with stable asthma at the same time of the day on two separate occasions within a week. The test was terminated after a 15% fal...
journal_title:Pediatric pulmonology
pub_type: 临床试验,杂志文章
doi:10.1002/ppul.10378
更新日期:2003-12-01 00:00:00
abstract::We present two infants with congenital tracheal stenosis with complete tracheal rings. Both had associated congenital anomalies. The first case showed cardiac malformations, and the second case had agenesis of the right lung. We review the literature, in particular with reference to tracheal stenosis and pulmonary age...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950020414
更新日期:1986-07-01 00:00:00
abstract::We reviewed the literature on the effects of high flow nasal cannula (HFNC) and heated, humidified, high-flow, nasal cannula (HHHFNC) treatment in preterm infants. We found nine studies, but only two were randomized controlled trials. These studies show that: HFNC application is associated to the delivery of continuou...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,评审
doi:10.1002/ppul.21051
更新日期:2009-07-01 00:00:00
abstract::Mucus plugging constitutes a nutrient-rich nidus for a bacterial infection that has long been recognized as a potent stimulus for neutrophilic airway inflammation driving progressive lung damage in people with cystic fibrosis (CF). However, mucus plugging and neutrophilic inflammation are already present in many infan...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,评审
doi:10.1002/ppul.24462
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:In 1995 the Tucson Children's Respiratory Study (TCRS) identified clinically distinct phenotypes amongst early wheezers; the Avon Longitudinal Study of Parents And Children (ALSPAC) has recently re-examined these. OBJECTIVES:To validate statistically derived ALSPAC phenotypes in the Southampton Women's Surv...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22766
更新日期:2013-07-01 00:00:00
abstract::The gasdermin A (GSDMA) and gasdermin B (GSDMB) genes are located at 17q21.2. The GSDM family genes have been studied in the gastrointestinal tract but recent reports suggest that GSDMB is associated with childhood asthma in several populations. We investigated the association of the GSDMA and GSDMB variants with asth...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21424
更新日期:2011-07-01 00:00:00
abstract:INTRODUCTION:Chest impedance (CI) is the current standard for cardio-respiratory monitoring in preterm infants but fails to provide direct and quantitative information on diaphragmatic activity. Transcutaneous electromyography (dEMG) is able to measure diaphragmatic activity, but its feasibility and repeatability to mo...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23116
更新日期:2015-09-01 00:00:00
abstract:BACKGROUND:Premature neonates frequently require oxygen supplementation as a therapeutic intervention that, while necessary, also exposes the lung to significant oxidant stress. We hypothesized that hyperoxia has a deleterious effect on alveolar epithelial barrier function rendering the neonatal lung susceptible to inj...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23681
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:It is uncertain whether folate is risk or preventive factor for allergic and respiratory diseases. OBJECTIVE:To determine the relationship between maternal or offspring folate status and subsequent development of allergic and respiratory diseases in early childhood. METHODS:In total, 917 mother-child pairs...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23025
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:Extremely low gestational age neonates (ELGANs) are at risk for pulmonary hypertension (PH). We hypothesized that PH, defined by echocardiogram at 36 weeks gestational age (GA), would associate with respiratory morbidity, increased oxidant stress, and reduced nitric oxide production. STUDY DESIGN:ELGANs in t...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23913
更新日期:2018-03-01 00:00:00
abstract:INTRODUCTION:Foreign body (FB) aspiration is a frequent and preventable source of morbidity and mortality, especially in children under 4 years of age. Few comprehensive studies exist on presentation and outcome of apple aspirations in children. METHODS:In a retrospective analysis of bronchoscopy records of a tertiary...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24768
更新日期:2020-07-01 00:00:00
abstract::Inhalation therapy for wheezy infants with either a nebulizer or a pressurized metered-dose inhaler (pMDI) through a spacer is common practice. The aim of our study was to compare aerosol delivery to wheezy infants from a nebulizer and from a pMDI via two small volume spacers. Twenty wheezy infants (aged 4-12 months) ...
journal_title:Pediatric pulmonology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/(sici)1099-0496(199703)23:3<212::aid-ppul7
更新日期:1997-03-01 00:00:00
abstract::Oxygen supplementation may improve exercise tolerance and the physiological response to exercise in cystic fibrosis (CF) patients. Elevated barometric pressure at low altitude is a simple means of increasing the quantity of inspired oxygen. Our objectives were to examine the effect of natural oxygen enrichment (at the...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ppul.20342
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:Newborns exhibit the lowest immediate respiratory morbidity rates when born following 39 completed weeks of gestation. We sought to determine whether early-term delivery (37-38 + 6 weeks' gestation) impacts on long-term pediatric respiratory morbidity. STUDY DESIGN:In this population-based prospective cohort...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23529
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Socioeconomic status (SES) is a strong predictor of outcomes in cystic fibrosis (CF); however, there are no published studies evaluating this relationship in Canadians with CF. The objective of this study was to assess the effect of SES on annual hospitalization rates in a large cohort of pediatric and adult...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21368
更新日期:2011-04-01 00:00:00
abstract::Airway inflammation of eosinophilic asthma (EA) attributes to Th2 response, leaving the role of Th17 response unknown. Signal transducer and activator of transcription 3 (STAT3) induce both suppressors of cytokine signaling 3 (SOCS3) and retinoic acid receptor-related orphan nuclear receptor γ (RORγt) to initiate Th17...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24759
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Prone sleeping position, use of soft mattresses and head covering by bedclothes are known risk factors for sudden infant death syndrome (SIDS). Rebreathing carbon dioxide (CO(2) ) may be a possible mechanism or a confounding factor of SIDS. OBJECTIVE:To compare the aeration properties of a new concept of in...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21351
更新日期:2011-02-01 00:00:00
abstract::Multiresistance in Stenotrophomonas maltophilia limits the effectiveness of antimicrobial therapy for infections due to this organism. It can be of special concern in cystic fibrosis (CF) patients due to frequent antimicrobial administration. The in vitro activity of 41 antimicrobial agents against 76 epidemiologicall...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.10216
更新日期:2003-02-01 00:00:00
abstract:BACKGROUND:Pneumonia is a leading killer of children under-5 years, with a high burden in Nigeria. We aimed to quantify the regional burden and risks of pediatric pneumonia in Nigeria, and specifically the states of Lagos and Jigawa. METHODS:We conducted a scoping literature search for studies of pneumonia morbidity a...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,评审
doi:10.1002/ppul.24626
更新日期:2020-06-01 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
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:BACKGROUND:Most international asthma guidelines recommend that children ≤5 years with asthma or recurrent wheezing be treated with daily low- moderate dose inhaled corticosteroids (ICS) as the preferred controller and leukotriene receptor antagonists (LTRA) as alternative therapy. There is no systematic review comparin...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.24176
更新日期:2018-12-01 00:00:00
abstract::Appropriate, regular exercise is of benefit to patients with cystic fibrosis (CF). As with other segments of the population, it has been difficult to devise exercise programs to which most patients will adhere for long periods of time. In healthy children, factors that are related to positive exercise compliance inclu...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,评审
doi:10.1002/ppul.10126
更新日期:2002-07-01 00:00:00
abstract::Cystic fibrosis (CF) is one of the most common autosomal recessive and multisystemic diseases. CF affects many systems. One of these systems is the endocrine and exocrine functions of the pancreas, causing cystic fibrosis-related diabetes, which is extremely complex and has unique pathogenesis. Maturity-onset diabetes...
journal_title:Pediatric pulmonology
pub_type:
doi:10.1002/ppul.24746
更新日期:2020-05-01 00:00:00
abstract::We compared the performance of selected ultrasonic and jet nebulizers when aerosolizing several antibiotic formulations to determine optimum combinations for delivery of a respirable antibiotic aerosol. Three ultrasonic devices were tested: the UltraNeb 99/100, the UltraAIR and the Aerosonic. The reusable jet nebulize...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,多中心研究
doi:10.1002/(sici)1099-0496(199704)23:4<249::aid-ppul2
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Discussions on the diagnostic and management of acquired pediatric lung pathology are usually published by large tertiary children's hospitals. It is likely that much of this pathology is actually seen and managed in nonacademic practices. METHODS:A 10-year retrospective review of patients under 18-years of...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.25254
更新日期:2021-01-02 00:00:00
abstract::The goal of this research was to begin the process of evaluating acceptability of infection control (IC) recommendations to CF patients and their families, determine whether compliance with IC guidelines differs from compliance with traditional CF medical treatment with respect to the variables predictive of complianc...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20781
更新日期:2008-05-01 00:00:00
abstract::Most pneumatoceles disappear spontaneously and do not cause severe symptoms. Treatment alternatives include various conventional or surgical methods. However, an enlarging, complicated pneumatocele with cardiorespiratory instability requires imaging-guided catheter drainage or surgery. Here, we report the case of a ne...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23311
更新日期:2016-02-01 00:00:00