Abstract:
:Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.
journal_name
Pediatr Pulmonoljournal_title
Pediatric pulmonologyauthors
Arıkan-Ayyıldız Z,Caglayan-Sozmen S,Isık S,Deterding R,Dishop MK,Couderc R,Epaud R,Louha M,Uzuner Ndoi
10.1002/ppul.22976subject
Has Abstractpub_date
2014-03-01 00:00:00pages
E112-5issue
3eissn
8755-6863issn
1099-0496journal_volume
49pub_type
杂志文章abstract:BACKGROUND:Multiple breath washout (MBW) in infants presents a number of technical challenges. Conventional MBW is based on simultaneous measurement of flow and gas concentrations. These two signals are aligned and combined to derive expired gas volumes from which lung volumes and measures of ventilation inhomogeneity ...
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
abstract::Our study was aimed at elucidating the effect of strenuous maternal exercise (running at a speed of 20 m/min) on fetal somatic growth and lung development. Dams were separated into three groups: (1) exercising during the entire course of pregnancy; (2) exercising from the 16th to the 20th gestational day; and (3) cont...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950150604
更新日期:1993-06-01 00:00:00
abstract::Failure to recognize esophageal intubation can result in severe hypoxia and permanent neurologic injury. Capnography is a standard monitoring modality in the operating room but has not been utilized fully in other environments. We used capnography at the time of endotracheal intubation in the neonatal intensive care u...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950190504
更新日期:1995-05-01 00:00:00
abstract::A survey of 47 cystic fibrosis referral centers was conducted to study the use of exercise in the management of patients with cystic fibrosis (CF). A questionnaire with 5 brief questions concerning the prescription and application of exercise therapy was sent to the first 47 centers (38.5%) listed in the 1988 CF Found...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950100313
更新日期:1991-01-01 00:00:00
abstract:INTRODUCTION:The prognosis of postinfectious bronchiolitis obliterans (PIBO) has many implications, ranging between reduced quality of life and life-threatening complications. We evaluated the prognostic factors for PIBO using the baseline clinical characteristics of patients and built a prediction model for determinin...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.25220
更新日期:2020-12-11 00:00:00
abstract::Since persistent pulmonary hypertension of the newborn (PPHN) often occurs as a life-threatening illness, it would be advantageous to identify the highest-risk infants within the first 24 hours of life so that transfer to centers with extracorporeal membrane oxygenation (ECMO) or high-frequency ventilation can be faci...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950050103
更新日期:1988-01-01 00:00:00
abstract::We assessed the ability of innovative lung function tests to detect bronchial obstruction induced by methacholine bronchial challenge. Fifty-five recurrently wheezy infants (mean age 16 +/- 5.2 months) free of respiratory symptoms underwent baseline lung function tests. Forty-two completed the methacholine challenge. ...
journal_title:Pediatric pulmonology
pub_type: 临床试验,杂志文章
doi:10.1002/ppul.1950180508
更新日期:1994-11-01 00:00:00
abstract::In contrast to its effect on airway smooth muscle in the adult, in vitro studies have shown that caffeine significantly increases active tension in airway smooth muscle in the neonatal lamb. To determine if caffeine has a physiological effect on airway function during early development, we studied the effect of caffei...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950120106
更新日期:1992-01-01 00:00:00
abstract::One hundred fifty-four children with recurrent or chronic infections of the lower respiratory tract compatible with the diagnosis of primary ciliary dyskinesia (PCD) were evaluated for the presence of ultrastructural ciliary abnormalities. Studies were performed on multiple samples of respiratory mucosa obtained by na...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950100104
更新日期:1991-01-01 00:00:00
abstract::Traumatic injuries to the pediatric trachea are uncommon events that require prompt diagnosis and management. When they do occur, tracheal injuries often arise in the setting of high impact trauma and are accompanied by major injuries to other organ systems. In this report, we present the diagnosis and conservative ma...
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
abstract:UNLABELLED:Data on central sleep apnea (CSA) and its significance in children are limited. Our objectives were to describe the polysomnogram (PSG) characteristics and clinical features of children with significant CSA at a single pediatric sleep center. STUDY DESIGN AND METHODS:A retrospective chart review of children...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21469
更新日期:2011-10-01 00:00:00
abstract::Phrenic nerve paralysis is a condition typically occurring after invasive procedures in the chest and neck. Here we describe a case of transient unilateral diaphragmatic paralysis in a child with status asthmaticus complicated by complete right lung atelectasis. Common causes of this disorder and possible implications...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20040
更新日期:2004-09-01 00:00:00
abstract::Acute mycoplasma pneumonia may be accompanied by wheeze in some children considered not to have asthma. The aim of the present study was to evaluate cytokine secretion in children with acute mycoplasma pneumonia and wheeze. We studied 58 patients with mycoplasma pneumonia (12 with wheeze, Group 1; 46 without wheeze, G...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20961
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:Although the benefits of recombinant human deoxyribonuclease (dornase alfa) in patients with cystic fibrosis (CF) are established, its optimal timing in relation to physiotherapy is unknown. As its enzymatic effect lasts for 6-11 hr, dornase alfa may be more efficacious if the time interval between inhalatio...
journal_title:Pediatric pulmonology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/ppul.20704
更新日期:2007-12-01 00:00:00
abstract::Inhaled corticosteroids are commonly used in cystic fibrosis (CF), but there are few studies evaluating their safety in young children. We, therefore, prospectively administered beclomethasone diproprionate (BDP) to 12 clinically stable young children with CF to examine the safety of this therapy with respect to adren...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1122
更新日期:2001-10-01 00:00:00
abstract:INTRODUCTION:Advance care planning (ACP), though recommended, has not been studied in adolescents with cystic fibrosis (CF). This quality improvement project engaged adolescents with advanced CF disease in ACP and assessed patient and CF provider attitudes and preferences regarding ACP discussions and tools. MATERIALS...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23559
更新日期:2016-12-01 00:00:00
abstract::Four patients with generalized lymphangiomatosis presenting with chylothoraces are described. All four had bone involvement, two had involvement of the spleen, and one of the pericardium. The diagnosis was confirmed by typical radiology, histology, and in three patients by immunohistochemistry. Treatment was mainly pa...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950140211
更新日期:1992-10-01 00:00:00
abstract:OBJECTIVES:The present pilot study was performed to evaluate the HPA axis and ANS activity by measuring salivary cortisol and α-amylase diurnal trajectory and production, respectively, in mild or moderate-to-severe (MS) OSA-affected, but otherwise healthy, children. Moreover, a correlative analysis was performed betwee...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22972
更新日期:2014-11-01 00:00:00
abstract::Plastic bronchitis (PB) is an uncommon, potentially fatal disease, marked by endobronchial cast formation causing variable degrees of respiratory distress. Primary and secondary pulmonary lymphatic abnormalities have been identified among the underlying mechanisms of cast formation. We present a case of PB where lymph...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22673
更新日期:2013-05-01 00:00:00
abstract::Forced oscillatory respiratory resistance was measured in 138 healthy children aged 2- to 16-years-old using a commercial unit. Regression analysis was performed using the resistance measurements obtained at frequencies of 6 Hz and 26 Hz and averages of measurements obtained at frequencies of from 6-26 Hz, 6-10 Hz, an...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950010305
更新日期:1985-05-01 00:00:00
abstract::To develop and validate a questionnaire scale that can be used as a screening tool to investigate for the presence of childhood obstructive sleep apnea syndrome (OSAS) in Hong Kong Chinese children. Subjects suspected to have OSAS and controls were recruited. Parents completed a Hong Kong children sleep questionnaire ...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20505
更新日期:2006-12-01 00:00:00
abstract::There is currently no validated scoring system for quantification of airway secretions in children. A user friendly, valid scoring system of airway secretions during flexible bronchoscopy (FB) would be useful for comparative purposes in clinical medicine and research. The objective of this study was to validate our br...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20478
更新日期:2006-09-01 00:00:00
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:OBJECTIVE:Recent advances in medicine have allowed children with chronic life-threatening disorders to survive longer than ever before with the use of complex medical device technology (e.g., mechanical ventilation, dialysis, etc.). The care of children with chronic pulmonary disorders and respiratory-technology depend...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23155
更新日期:2015-12-01 00:00:00
abstract::Spirometric testing is traditionally achievable in children of school-age and beyond. Incorporation of interactive incentives motivates preschool children to facilitate measurement of forced expiratory indices. Validated spirometric reference standards are available for Caucasian preschoolers but lacking in Asians. We...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.22773
更新日期:2013-11-01 00:00:00
abstract::We determined the effects of an immediately antecedent viral lower respiratory tract infection (LRI) on the severity of clinical illness, changes in lung function and airway histamine responsiveness produced by a subsequent LRI in 9-12 week old beagle puppies inoculated with canine adenovirus 2, followed in 2 weeks by...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.1950100403
更新日期:1991-01-01 00:00:00
abstract::Sudden unexplained deaths have been reported in 13% [corrected] of Familial Dysautonomia (FD) subjects. To characterize cardiorespiratory dysregulation in children with FD that might contribute to potential sudden death, respiratory inductance plethysmography (chest/abdomen), ECG, hemoglobin saturation, and pulse wave...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.20764
更新日期:2008-03-01 00:00:00
abstract::The purpose of the study was to analyze the respiratory-dependent intraarterial blood pressure variations (pulsus paradoxus, PP) in intensive care unit patients with obstructive and restrictive pulmonary disease, and to evaluate the usefulness of PP for assessment of disease severity. One-minute paper recordings of ar...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/1099-0496(200102)31:2<138::aid-ppul1022>3.
更新日期:2001-02-01 00:00:00
abstract:BACKGROUND:Most methods used for the assessment of severe steatorrhea in cystic fibrosis (CF) are sensitive. In fact, the tests show their usefulness in a borderline zone of the results. Yet, the existing data related to acid steatocrit (AS) are still contradictory. Therefore, in the present study we have aimed to asse...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.21149
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:Children's perception of their symptoms has proved reliable and relevant to disease management and should be considered when assessing their asthma control. The aim of the study is to validate the Brazilian Portuguese version of the Childhood Asthma Control Test (c-ACT) in children aged 4-11 years. METHODS:...
journal_title:Pediatric pulmonology
pub_type: 杂志文章
doi:10.1002/ppul.23318
更新日期:2016-04-01 00:00:00