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 hypotonic diseases, analysis of cerebrospinal fluid, electromyography, nerve conduction velocity creatine kinase and a skin biopsy for fibroblast cultures for metabolic investigations are usually carried out. Needle muscle biopsy is an additional valuable investigation to establish diagnosis. In all our patients we found an increased number of centrally located nuclei with perinuclear halos confirming the diagnosis of centronuclear myopathy. The diagnosis of this disorder will become of greater importance as soon as carrier detection and prenatal diagnosis by DNA-technology are routinely available.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Braga SE,Gerber A,Meier C,Weiersmüller A,Zimmermann A,Herrmann U,Liechti S,Moser Hdoi
10.1007/BF02072056subject
Has Abstractpub_date
1990-12-01 00:00:00pages
132-5issue
2eissn
0340-6199issn
1432-1076journal_volume
150pub_type
杂志文章abstract::Infiltration of the stomach wall by air, first described by Fraenkel in 1889 [3], is a very rare condition. We describe the first reported case of gastric pneumatosis occurring in a child with complex congenital heart disease after cardiac surgery. ...
journal_title:European journal of pediatrics
pub_type: 信件
doi:10.1007/s004310051338
更新日期:2000-07-01 00:00:00
abstract::We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959396
更新日期:1990-04-01 00:00:00
abstract::The aim of this study is to evaluate and compare mothers' and grandparents' feeding behaviours, the differences between the behaviours, the relationship between children's feeding problems and grandparents' feeding behaviours, as well as the relationship between grandparents' feeding behaviour and children's body mass...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3244-5
更新日期:2018-12-01 00:00:00
abstract::The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the n...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496039
更新日期:1986-04-01 00:00:00
abstract::The laryngo-tracheo-oesophageal cleft is marked by a missing anatomical separation of the oesophagus and the larynx. The cleft can be restricted to the dorsal part of the larynx (type I), extend to the upper area of the trachea (type II) or involve the whole of the trachea (type III). In reviewing our three cases and ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00661903
更新日期:1983-03-01 00:00:00
abstract::Lower respiratory tract infections (LRTI) caused by adenovirus can be severe with resultant chronic pulmonary sequelae. More than 50 serotypes have been recognized; however, the exact association of serotype with clinical phenotype is still unclear. There have been no reports on the adenovirus serotype pattern in Hong...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2127-z
更新日期:2014-03-01 00:00:00
abstract::In a German pediatric oncology unit, the attending physicians diagnosed 27 cases of Clostridium difficile-associated disease (CDI) from January 01, 2010 to October 31, 2013. This refers to a CDI incidence density of 2.0/1000 inpatient days. According to the hospital hygiene standard, symptomatic patients with CDI were...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3070-1
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVES:The aim of the 'Motorik-Modul' (MoMo Basiserhebung, www.motorik-modul.de ) was to establish prevalence measurements on physical fitness and physical activity in German children and adolescents and to identify differences between age groups and genders. A total of 4,529 children and adolescents between the ag...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1391-4
更新日期:2011-09-01 00:00:00
abstract:UNLABELLED:We describe a case of iatrogenic pseudo-Bartter syndrome caused by administration of prostaglandin E1 (PGE1 alprostadil). Although the use of i.v. PGE1 is a well-established pharmacological therapy in neonates with a ductus-dependent congenital cardiopathy to ensure ductus-dependent flow, we could only find ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1201-3
更新日期:2003-09-01 00:00:00
abstract:UNLABELLED:A formerly premature, exclusively breast-fed infant with severe zinc deficiency syndrome is presented. He showed the characteristic erosive skin changes, including alopecia, as seen in acrodermatitis enteropathica. In addition, he manifested a failure to thrive and irritability. The diagnosis was confirmed b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01972977
更新日期:1995-01-01 00:00:00
abstract:UNLABELLED:A 15-year-old healthy girl ingested 38.25 g (0.55 g/kg body weight) of metformin in a suicide attempt. Subsequently she developed lactic acidosis and moderate renal failure. An initial session of haemodialysis was able to treat the acidosis and reduce the toxic level of metformin. Nevertheless, a further inc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1634-y
更新日期:2005-06-01 00:00:00
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 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442455
更新日期:1984-08-01 00:00:00
abstract:UNLABELLED:Growth hormone (GH) secretion was determined by evaluating circadian GH profiles for 24 h and GH responses to clonidine stimulation test and insulin-stimulated hypoglycaemia (ITT), in nine prepubertal children with beta-thalassaemia major (TM) and 17 with non-GH deficient short stature (NGHDSS). The TM child...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02029352
更新日期:1995-06-01 00:00:00
abstract:INTRODUCTION:Impaired vitamin K status in cystic fibrosis (CF) has been considered as a newly emerged pathogenetic factor for reduced bone mineral density (BMD). OBJECTIVES:Our aim was to evaluate the effectiveness of vitamin K supplementation in managing bone formation abnormalities in children and adolescents with C...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0132-1
更新日期:2006-08-01 00:00:00
abstract::To elucidate the basis for the recurrent infections in patients with glycogen storage disease (GSD) Ib we tested polymorphonuclear leukocyte (PMN) function in one patient. Bactericidal capacity and phagocytosis-induced O2 consumption were reduced. Also, phorbol myristate acetate-stimulated superoxide production and gl...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442674
更新日期:1983-09-01 00:00:00
abstract::The renal function of 12 patients with non vitamin B12 responsive methylmalonic acidaemia has been investigated. Eight patients had reduced glomerular filtration rates, but the plasma creatinine concentration was only raised in those with values of less than 40 ml/min per 1.73 m2 surface area. The reduction in glomeru...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444131
更新日期:1989-01-01 00:00:00
abstract::The study material consisted of 251 newborn light-treated infants with rhesus haemolytic disease (RHD) caused by anti-D. 139 infants were treated with ordinary phototherapy (white single light) and 112 infants with intensive phototherapy (blue double light). An evaluation was made as to wheter the indications for earl...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444752
更新日期:1980-01-01 00:00:00
abstract::Recent studies revealed that fluid overload is associated with higher mortality in critically ill children and adults. This study aimed to evaluate the association between fluid overload in the first 3 days of life and mortality in extremely low birth weight infants. This single-center retrospective cohort study inclu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03654-z
更新日期:2020-11-01 00:00:00
abstract:INTRODUCTION:Population modelling using mixed-effects models provides a means to study variability in drug responses among individuals representative of those for whom the drug will be used clinically. DISCUSSION:The advantages of these models in paediatric studies are that they can be used to analyse sparse data, sam...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-006-0188-y
更新日期:2006-11-01 00:00:00
abstract::We addressed growth of biliary atresia (BA) patients living with native livers between ages 0-6 and effects of post-surgical corticosteroid treatment on growth. Growth charts of 28 BA patients born in Finland between 1987 and 2017 were retrospectively evaluated. Dosage and length of corticosteroid treatment and hydroc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3302-z
更新日期:2019-03-01 00:00:00
abstract::Twenty-six children with cerebral palsy were examined with respect to structural asymmetry of the mouth. In 19 children there were clear cut correlations between symmetry/asymmetry of voluntary function and the oral findings. Patients with symmetrical patterns of movements had symmetrical dentition, while in those wit...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441639
更新日期:1980-12-01 00:00:00
abstract::The heuristic concept of "inborn errors of metabolism" was introduced more then 70 years ago and by analogy has prompted the more recent introduction of the term "inborn errors of immunity". It is now well recognized that many inborn errors of immunity can be considered inborn errors of metabolism. Typically, many for...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00491916
更新日期:1985-05-01 00:00:00
abstract::A 16-year-old girl is described with abetalipoproteinaemia who underwent liver transplantation for hepatic cirrhosis. After this procedure her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant microsomal triglyceride-transfer protein, rem...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050882
更新日期:1998-07-01 00:00:00
abstract::This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants w...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0154-8
更新日期:2007-01-01 00:00:00
abstract:UNLABELLED:A retrospective analysis was performed of the records of 133 patients with extrahepatic biliary atresia (EHBA) who had undergone a Kasai portoenterostomy. The patients were divided into a non-transplantation group who survived but did not receive liver transplantation after the procedure and a failure group ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1268-x
更新日期:2003-09-01 00:00:00
abstract:UNLABELLED:The aim was to determine whether semi-quantitative procalcitonin (PCT-Q) measurements on admission can identify the severity of meningococcal infection in children. A total of 65 children (mean age 2.4 years) with meningococcal disease were included in a prospective study. All patients were treated with anti...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1761-5
更新日期:2006-01-01 00:00:00
abstract::The effects of laryngoscopy and tracheal intubation on cerebral and systemic haemodynamics were studied in 30 children. The objective was to identify conditions in which the alterations of cerebral and systemic haemodynamics were minimal. The children were intubated after muscular relaxation and following 10 min of me...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957527
更新日期:1993-11-01 00:00:00
abstract::The performance of two triggering systems was compared during patient triggered ventilation (PTV) of infants ventilator-dependent beyond 10 days of age. Ten infants were studied who had a median gestational age of 26.5 weeks and a postnatal age of 15.5 days. PTV was administered via the SLE ventilator and the two trig...
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/BF01957937
更新日期:1992-11-01 00:00:00
abstract::Neurological manifestations and outcomes of children with the 2009 H1N1 virus infection have been reported in three American series and from smaller cohorts and case reports worldwide. Of the 83 children admitted between April 2009 and March 2010 with H1N1 virus infection to a tertiary children's hospital in a Europea...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-010-1392-3
更新日期:2011-08-01 00:00:00
abstract::Co-trimoxazole is an effective antibacterial agent for the prophylaxis of urinary tract infection. Because experimental evidence raises the possibility that high-dose cotrimoxazole might interfere with normal somatic growth, the longitudinal growth and growth velocities were analysed in 114 girls receiving long-term, ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442669
更新日期:1983-09-01 00:00:00