Abstract:
:Since the first description by Catel and Manzke of hyperphalangy and clinodactyly of the index finger associated with Robin malformation sequence, seven further cases have been published. In two families more than one case occurred. Another family is presented with possibly two affected boys showing variable features of the syndrome. It is proposed that the trait is X-chromosomal, recessively inherited.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Brude Edoi
10.1007/BF00442455subject
Has Abstractpub_date
1984-08-01 00:00:00pages
222-3issue
3eissn
0340-6199issn
1432-1076journal_volume
142pub_type
杂志文章abstract::Palivizumab utilization, compliance, and outcomes were examined in infants with preexisting medical diseases within the Canadian Registry Database (CARESS) to aid in developing guidelines for potential "at-risk" infants in the future. Infants who received ≥1 dose of palivizumab during the 2006-2010 respiratory syncyti...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1654-8
更新日期:2012-05-01 00:00:00
abstract::Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1869-3
更新日期:2013-02-01 00:00:00
abstract::Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-019-03567-6
更新日期:2020-02-01 00:00:00
abstract:UNLABELLED:The fatty acid composition of human breast milk was determined longitudinally after term and preterm delivery by high resolution gas liquid chromatography. Milk samples were obtained at days 5, 10, 20 and 30 after term (n = 38) or preterm (n = 19) delivery. The saturated fatty acids C10:0 and C12:0 and the p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050573
更新日期:1997-02-01 00:00:00
abstract::Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In h...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02072056
更新日期:1990-12-01 00:00:00
abstract:UNLABELLED:Most of what is known about the metabolically healthy obese phenomenon is derived from studies in the adult population and no standardized criteria to identify these individuals exist to date. The aim of this study was to determine if the preserved insulin sensitivity evaluated by homeostatic model assessmen...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1867-5
更新日期:2013-02-01 00:00:00
abstract::The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome. Literature search documented at least 413 cases with 558 sibs. An aff...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00595907
更新日期:1989-02-01 00:00:00
abstract::Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalizations in children aged < 2 years. The aim of this retrospective, single-centre study was to examine the characteristics of patients admitted to a paediatric intensive care unit (PICU) with RSV infection followin...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1376-3
更新日期:2011-07-01 00:00:00
abstract::Serum IgE concentration was measured on the 5th day of life in 943 infants. All infants were included in a 3 month follow-up study. The frequency of cow's milk allergy was studied according to either family history, IgE level, or both. Feeding (mother's milk or formula feeding) was taken into account. Manifestations s...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02429049
更新日期:1986-12-01 00:00:00
abstract::Piritramide is indicated for treatment of postoperative pain and analgosedation in the intensive care unit (ICU) setting. In an open prospective study the pharmacokinetics of piritramide were investigated in four groups: newborns (NB, age: 1-28 days) (n=8), infants 1 (IF1, age: 2-4 months) (n=7), infants 2 (IF2, age: ...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-005-0021-z
更新日期:2006-04-01 00:00:00
abstract:UNLABELLED:Our aim was to evaluate effectiveness of pandemic influenza A/H1N1 vaccine in preventing acute otitis media (AOM) and/or otitis media with effusion (OME), in a randomized, prospective and single-blind study conducted in the children aged of 6-60 months. This study was done between December 1, 2009 and April ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-012-1797-2
更新日期:2012-11-01 00:00:00
abstract::Despite rapidly evolving knowledge about COVID 19 infection, routes of perinatal COVID 19 transmission and viral load in mother neonate dyad remain uncertain. Data were analysed to describe the clinicodemographic profile and viral load in neonates born to COVID 19 positive mothers. Of 2947 deliveries, 69 mothers were ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03800-7
更新日期:2021-02-01 00:00:00
abstract:UNLABELLED:Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multice...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/pl00014336
更新日期:1999-12-01 00:00:00
abstract::Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1012-y
更新日期:2002-10-01 00:00:00
abstract:UNLABELLED:Blood transfusion increases blood volume and blood viscosity of the neonate. Since both volume expansion and increase in blood viscosity may be associated with increased pulmonary artery pressure, we studied effects of transfusion (10 ml of red blood cells per kilogramme of body weight) on right ventricular ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050661
更新日期:1997-07-01 00:00:00
abstract:UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1659-3
更新日期:2012-04-01 00:00:00
abstract::From time to time, paediatricians are confronted with children who might suffer from a primary immunodeficiency disease. For practical purposes, these children can be divided into four main clinical categories: (1) a relatively large group of children with recurrent ear-nose and throat and lower respiratory tract infe...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310100797
更新日期:2001-10-01 00:00:00
abstract:UNLABELLED:Neutrophils are an essential component of the human host defence system against infection. Recombinant human granulocyte colony-stimulating factor induces neutrophilia and enhances effector functions of mature neutrophils. Since the biological effects of granulocyte colony-stimulating factor (G-CSF) are medi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051129
更新日期:1999-06-01 00:00:00
abstract::We examined the long-term outcome in 111 children who had convulsions during shigellosis and were followed for 3-18 years after the incident. No deaths or persistent motor deficits occurred as sequellae. Poor coordination of fine hand movements were noted in 3.3% of the 92 children who had no pre-existing neurological...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02106298
更新日期:1990-01-01 00:00:00
abstract::Phenylketonuria's (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of this study was to evaluate the reliability of ADMA as a biomarker of adequate metabolic control and possible nutritional risk in a long-term PKU patient popula...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-019-03365-0
更新日期:2019-06-01 00:00:00
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 retr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1996-5
更新日期:2013-08-01 00:00:00
abstract:UNLABELLED:To study the developmental effects of prenatal exposure to opiates, a prospective follow up study of 34 drug-exposed (opiates and nicotine) and 42 reference infants (nicotine exposure only) was conducted from January 1992 to September 1995. At the time of delivery, 12 of 34 mothers used opiates without medic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050923
更新日期:1998-09-01 00:00:00
abstract::Tinea of the nails is not an exclusively adult pathology. The pediatrician should include this entity in the differential diagnosis. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0332-8
更新日期:2007-09-01 00:00:00
abstract:UNLABELLED:Fibronectin (a glycoprotein which modulates inflammation) may decrease mortality in systemic infection. Children with meningococcal disease (MCD) may have low fibronectin levels. We aimed to compare plasma fibronectin levels in children with MCD and controls, correlate fibronectin levels with interleukin-6 (...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s004310050636
更新日期:1997-06-01 00:00:00
abstract::A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959404
更新日期:1990-04-01 00:00:00
abstract:UNLABELLED:The aim was to assess the incidence of complications related to skin-to-skin contact (SSC) in newborns with an umbilical venous catheter (UVC). We carried out a prospective follow-up study of all UVCs in a level 3 unit where SSC is systematic. A total of 333 babies were included (mean gestational age of 31.3...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2665-7
更新日期:2016-04-01 00:00:00
abstract:UNLABELLED:Establishing enteral feeding in the very low birth weight infant as soon as possible after birth has been shown to promote growth and reduce the need for intravenous lines. Human milk can be administered either as a continuous infusion or as intermittent boluses. The aim of this study was to investigate the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100814
更新日期:2001-10-01 00:00:00
abstract::Although thyroid medications are frequently prescribed during pregnancy, paediatricians treating the respective neonates often have no information about the underlying maternal thyroid disease, and inconsistencies in postnatal diagnostics may result. We analysed a cohort of 1819 mothers admitted for delivery in 1 year...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3232-9
更新日期:2018-11-01 00:00:00
abstract:UNLABELLED:Endocrine dysfunction and damage of the epiphysial growth plates have been reported as late effects of antileukaemic treatment during childhood. It is a common opinion that cranial irradiation (CI) is the most important factor for blunted growth. Accordingly, recent therapeutic strategies in acute lymphoblas...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050599
更新日期:1997-04-01 00:00:00
abstract::A case-control study was conducted to examine the association of beta-haemolytic non-group A streptococci and pharyngitis in a paediatric population (n = 502). No association could be found between disease and traditional Lancefield groups B, C, F, or G. When the analysis included the clustering of genetically related...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02026709
更新日期:1991-09-01 00:00:00