Abstract：
:Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retrospective study carried out among 60 children with a definitive diagnosis of PCD, we analyzed clinical, radiological, and functional features at diagnosis and at last recorded visit, according to cilia defect (absence of dynein arms: DAD group, n = 36; abnormalities of the central complex: CCA group, n = 24). Onset of respiratory symptoms occurred later in the CCA than in the DAD group (9.5 versus 0.5 months, p = 0.03). Situs inversus was only observed in the DAD group, while respiratory disease in siblings were more frequent in the CCA group (p = 0.003). At diagnosis, clinical presentation was more severe in the CCA group: frequency of respiratory tract infections (p = 0.008), rhinosinusitis (p = 0.02), otitis complications (p = 0.0001), bilateral bronchiectasis (p = 0.04), and number of hypoxemic patients (p = 0.03). Pulmonary function remained stable in both groups, but outcome was better in the CCA than in the DAD group: less antibiotic therapy and hypoxemic patients (p = 0.004). In conclusion, our results underlined the relationship between the severity of clinical presentation and the ultrastructural ciliary defect.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Vallet C,Escudier E,Roudot-Thoraval F,Blanchon S,Fauroux B,Beydon N,Boulé M,Vojtek AM,Amselem S,Clément A,Tamalet Adoi
10.1007/s00431-013-1996-5subject
Has Abstractpub_date
2013-08-01 00:00:00pages
1053-60issue
8eissn
0340-6199issn
1432-1076journal_volume
172pub_type
杂志文章abstract：:A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442347
更新日期：1979-02-08 00:00:00
abstract：:A case of neonatal suppurative parotitis due to Klebsiella pneumoniae is described. This is the first case reported in the last 20 years. Infection with unusual microorganisms should be taken into account when planning antibiotic treatment, especially in hospital acquired infections of the salivary glands in the newbo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957226
更新日期：1993-12-01 00:00:00
abstract：:The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autonomic and peripheral neuropathies has more commonly been reported in older individuals. We describe four children (two siblings) with this disorder, aged between 3 and 6 years at di...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01972967
更新日期：1995-01-01 00:00:00
abstract：UNLABELLED:The aims of this study were to analyze reproductive outcomes of women and men born very preterm (gestational age <32 weeks) or with a very low birth weight (<1500 g) in 1983 in the Netherlands and to compare their reproductive outcomes with the total population at a similar age of 28 years. Young adults who ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2470-8
更新日期：2015-06-01 00:00:00
abstract：:We studied the effects of an alginate compound (Gaviscon) on the frequency and the duration of gastroesophageal reflux (GOR) episodes in children. Twenty infants and children with characteristic symptoms of GOR were divided at random into two groups which were given either Gaviscon (ten patients, mean age: 21 months) ...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF02343223
更新日期：1987-03-01 00:00:00
abstract：:Although tobacco use has decreased in the general population in recent years, smoking remains high among subpopulations. This study examined whether sexual identity is associated with cigarette smoking and e-cigarette use among high school students. Data were drawn from the US Youth Risk Behavior Surveillance System (...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03420-w
更新日期：2019-09-01 00:00:00
abstract：UNLABELLED:The pathogenesis of sporadic hemiplegic migraine remains unclear, and perfusion-weighted magnetic resonance imaging (PWI) has been used for characterization of hemodynamic changes in migraine aura. We report a case of sporadic hemiplegic migraine in which magnetic resonance perfusion imaging showed left cere...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-015-2609-2
更新日期：2016-02-01 00:00:00
abstract：:Changes of the complement components in the sera of 13 children with treated coeliac disease were studied after gluten challenge. The levels of C 1 and C3-activator (factor B) were significantly decreased at 4 h after the challenge, as were the levels of total complement (CH 50) and the components C 1, C 4 and C 1-ina...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01846034
更新日期：1980-08-01 00:00:00
abstract：:Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associated with SDS. A retrospective study was conducted to describe mutation...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1908-0
更新日期：2013-05-01 00:00:00
abstract：:The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tub...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03591-x
更新日期：2020-06-01 00:00:00
abstract：:The aim of this retrospective study was to describe the epidemiology and spectrum of infections of admitted pediatric refugees and asylum seekers in a tertiary referral hospital in a high-income country in Europe. We identified recent refugees and asylum seekers < 18 years of age admitted to the University Children's ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3014-9
更新日期：2017-12-01 00:00:00
abstract：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01956423
更新日期：1994-05-01 00:00:00
abstract：:A 7-year-old boy developed acute, severe hypercalcaemia following the partial excision of a cerebellar medulloblastoma. The serum calcium level was extremely high (19.8 mg/100 ml), but a skeletal survey revealed no apparent bone metastatic lesions; such lesions were only detected by X-ray 3 weeks after the onset of hy...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00444958
更新日期：1987-07-01 00:00:00
abstract：:The clinical and biochemical response to 25-hydroxycholecalciferol (25-HCC) and vitamin D3, 150 microgram/day for 20 days has been compared in infants aged 3--18 months with nutritional rickets. The infants were allocated at random to Group I (11 infants) treated with 25HCC and Group II (9 infants) treated with vitami...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF00465565
更新日期：1977-12-30 00:00:00
abstract：:Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02009661
更新日期：1990-03-01 00:00:00
abstract：UNLABELLED:The aim of this study was to provide growth and sexual maturation reference data for Turkish children living in The Netherlands. We also compared these references with the reference data of children of Dutch origin and with Turkish reference data collected in Turkey and elsewhere in Europe. Cross-sectional g...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-003-1292-x
更新日期：2003-11-01 00:00:00
abstract：:Health-related quality of life (HRQOL) is an important indicator of the burden of illness in moderate-to-severe plaque psoriasis. This study evaluated self-reported generic HRQOL among pediatric patients with moderate-to-severe plaque psoriasis based on pooled baseline clinical trial data and compared them to four com...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1587-2
更新日期：2012-03-01 00:00:00
abstract：:Spontaneous pneumomediastinum is uncommon in paediatric practice. We describe two cases of spontaneous pneumomediastinum in a child and an adolescent with anorexia nervosa. Thorough investigation failed to reveal any underlying cause for secondary pneumomediastinum. Pneumomediastinum in anorexia nervosa can be caused ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0444-9
更新日期：2008-02-01 00:00:00
abstract：:The role of the type-2 T helper (Th2) cell-mediated immune response in the immunopathogenesis of atopic dermatitis (AD) is well documented. Whether polarized immunoresponse is confined to antigen-specific T cells or is distributed among all T cell subsets is still controversial. We investigated frequencies of interleu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0319-5
更新日期：2007-08-01 00:00:00
abstract：:We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optim...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1600-9
更新日期：2012-03-01 00:00:00
abstract：:An adapted cow's milk formula with or without supplemental taurine (480 mumol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine conc...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/BF00442699
更新日期：1988-04-01 00:00:00
abstract：:Iodine deficiency is well documented in Belgium in adults including pregnant women, adolescents, schoolchildren, and neonates, but no data are available in the age group 6 months-3 years. We investigated the status of iodine nutrition in 111 healthy subjects in this age group in an attempt to evaluate the risk of brai...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310000707
更新日期：2001-04-01 00:00:00
abstract：UNLABELLED:We present a 9-month-old boy with megaloblastic anaemia, neutropenia and hypogammaglobulinaemia due to vitamin B12 deficiency. The deficiency was secondary to prolonged exclusive breastfeeding with inadequate nutritional amounts of vitamin B12 from the mother. There were no clinical or biological signs of ma...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1577-4
更新日期：2012-01-01 00:00:00
abstract：:To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442474
更新日期：1988-08-01 00:00:00
abstract：:Human metapneumovirus (hMPV) is a recently discovered pathogen in respiratory tract infection. The published literature suggests milder illness severity in hMPV compared with respiratory syncytial virus (RSV) infection. In two consecutive seasons, 637 nasopharyngeal aspirates from pediatric patients were tested by hMP...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0105-4
更新日期：2006-07-01 00:00:00
abstract：:Before promoting certain types of physical activities, the Health Promotion and Disease Prevention Department of Malta wanted to know whether children knew how to perform them in the first place, and if not, what barriers they had encountered. A cross-sectional, self-reported study involved 11-year-old students (boys ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-010-1185-8
更新日期：2010-09-01 00:00:00
abstract：:Continuous negative extrathoracic pressure (CNEP) has been recently reintroduced as therapy for respiratory failure. To determine its effects on cardiac output a pilot study was performed in ten patients aged 2 months-3 years (median 4 months). All had chronic respiratory failure (seven with bronchopulmonary dysplasia...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01954088
更新日期：1993-07-01 00:00:00
abstract：:CD3+4-8- double negative cells in peripheral blood lymphocytes were examined in 21 severely handicapped children divided into two groups according to serum IgG level. All children were bedridden and were taking multiple anticonvulsants and there were no apparent clinical differences between these two groups. Serum lev...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01954738
更新日期：1994-12-01 00:00:00
abstract：:In five L-thyroxine-substituted hypothyroid children with partial epilepsy serum total thyroxine (T4) and free T4 (FT4) significantly (P less than 0.01) decreased following 2 months of carbamazepine (CBZ) administration (20 mg/kg per BW per day) from mean (+/- SD) values of 12.7 +/- 1.1 micrograms/dl and 15.5 +/- 1.8 ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441860
更新日期：1986-04-01 00:00:00
abstract：UNLABELLED:Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrom...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1578-3
更新日期：2012-02-01 00:00:00
