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We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 -3T > C and 3849 +5G >(More)
STUDY OBJECTIVES Snoring during sleep is an important manifestation of obstructive sleep apnea syndrome (OSAS). Although clinical history is not sufficiently sensitive and specific to distinguish primary snoring from OSAS, snoring is indicative of upper airway obstruction and may be associated with the presence of diurnal symptoms. Our study aims were to(More)
BACKGROUND Non-cystic-fibrosis (non-CF) bronchiectasis in childhood is still one of the most common causes of childhood morbidity in developing countries. The management of these patients remains problematic, and there are few studies of long-term outcome. OBJECTIVE The aim of this retrospective study was to define the general characteristics, underlying(More)
BACKGROUND Children with undiagnosed and retained foreign bodies (FBs) may present with persistent respiratory symptoms. Delayed diagnosis is an important problem in developing countries and several factors affect the delay. OBJECTIVES To investigate, the incidence of clinically unsuspected foreign body aspiration (FBA) in our flexible bronchoscopy(More)
BACKGROUND Persistent wheezing is a common problem in early childhood and leads to a diagnostic dilemma, excessive investigations, drug administration and additional cost. OBJECTIVE To determine the efficacy and the safety of FOB in children with persistent wheezing despite bronchodilator and inhaled steroid therapy. METHODS Patients with persistent(More)
BACKGROUND The number of children on home mechanical ventilation (HMV) has increased markedly in Europe and North America but little is known about the HMV use and outcomes in children in Turkey. OBJECTIVE To review clinical conditions and outcome of children who were discharged from the hospital on respiratory support. METHODS Thirty-four patients(More)
Diaphragmatic paralysis after cardiac surgery is an important complication especially in infants. We report a child who developed diaphragmatic paralysis, atelectasis, bronchomalasia and respiratory failure following cardiac surgery. Ventilatory support alleviated respiratory distress in this child. This report illustrates the usefulness of invasive and(More)
Undiagnosed and retained foreign bodies may result in serious complications such as pneumonia, atelectasis, or bronchiectasis. We reviewed a total of 174 children with foreign body aspiration (FBA). Clinical, radiological, and bronchoscopic findings of these patients were evaluated according to the nature of foreign body and elapsed time from aspiration to(More)
Increased cough frequency is a common symptom associated with infective pulmonary exacerbations of cystic fibrosis (CF), but subjective assessment of cough is very unreliable. The aims of this study were: 1) to validate a modification of our previously described ambulatory cough recording device (LR 100); 2) to determine how accurately children with CF(More)
Niemann-Pick disease (NPD) is a rare, autosomal-recessively inherited lipid storage disease which is characterized by intracellular deposition of sphingomyelin in various body tissues. The disease is heterogeneous and classified into six groups. Pulmonary parenchymal involvement may be a feature of several subtypes of NPD, including type B. Progressive(More)