Abstract:
:A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Caramia GM,Baroncini A,Osimani P,Forabosco Adoi
10.1007/BF01959398subject
Has Abstractpub_date
1990-04-01 00:00:00pages
475-6issue
7eissn
0340-6199issn
1432-1076journal_volume
149pub_type
杂志文章,评审abstract::This pre-post intervention study was conducted in Neonatal Intensive Care Units in two Chinese hospitals. The objective was to evaluate the effectiveness and safety of intracavitary electrocardiogram (IC-ECG)-guided peripherally inserted central catheter (PICC) placement and tip positioning in premature infants. A tot...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-019-03524-3
更新日期:2020-03-01 00:00:00
abstract:UNLABELLED:The aim of this paper was to systematically review the published evidence on the relationship between the type of childcare and risk of childhood overweight or obesity. The databases PubMed, MEDLINE, Cochrane Library and EMBASE were searched using combinations of the various search terms to identify eligible...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-016-2768-9
更新日期:2016-10-01 00:00:00
abstract::Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1459-9
更新日期:2011-09-01 00:00:00
abstract:UNLABELLED:In a national prospective study of risk factors for mother-to-child transmission of human immunodeficiency virus (HIV), 316 children of HIV-positive mothers were followed up for at least 6 months. Infection status was determined in 254 of them and 46 were found to be infected giving a transmission rate of 18...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02074831
更新日期:1995-07-01 00:00:00
abstract::A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442508
更新日期:1982-07-01 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
abstract::We studied the clinical features, laboratory and thyroid functions and thyrotropin (TSH)-receptor and thyroid-stimulation antibodies in 21 patients with atrophic auto-immune thyroiditis (AAT) and 48 patients with goitrous auto-immune thyroiditis (GAT) of childhood onset. The clinical features of patient with AAT were ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957685
更新日期:1990-05-01 00:00:00
abstract:UNLABELLED:Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CC...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-0977-x
更新日期:2002-11-01 00:00:00
abstract::Coeliac disease and type 1 diabetes mellitus can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of coeliac disease among Hungarian diabetic children and to study the effect of gluten-free diet on glycaemic control. A total of 205 diabetic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1103-9
更新日期:2003-01-01 00:00:00
abstract:UNLABELLED:A postal survey of 31 European centres was conducted to document current practices regarding screening and management of hepatitis C virus (HCV)-infected pregnant women and their children. Antenatal HCV prevalence was low. Universal antenatal screening programmes were in place in ten centres, selective scree...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051219
更新日期:1999-10-01 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:UNLABELLED:Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and m...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1771-z
更新日期:2013-04-01 00:00:00
abstract:UNLABELLED:Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2616-3
更新日期:2016-02-01 00:00:00
abstract::We have evaluated 46 patients with Turner syndrome by clinical examination, M-mode and two-dimensional echocardiography, dynamic exercise testing and 24 h Holter monitoring. Twelve patients (26.1%) had mitral valve prolapse and 7 patients (15.2%) had isolated non stenotic bicuspid aortic valve. Aortic root dilation wa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441551
更新日期:1989-04-01 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::Paediatric ambulatory healthcare systems in Europe are, because of historical reasons, diverse and show strikingly different outcomes. All across Europe, the benchmarking of structures, processes and outcomes could reveal opportunities for improving Paediatric Primary Care (PPC). The aim of this study was to develop a...
journal_title:European journal of pediatrics
pub_type: 共识发展会议,杂志文章
doi:10.1007/s00431-018-3140-z
更新日期:2018-06-01 00:00:00
abstract:UNLABELLED:A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. The enzymatic activity of some of the identifi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1612-9
更新日期:2005-05-01 00:00:00
abstract:UNLABELLED:Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive r...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050800
更新日期:1998-03-01 00:00:00
abstract::Adolescence obesity and depression are increasingly prevalent and are associated with various health complications. The aim of this study was to examine the association between weight status (normal weight, overweight, and obese) and depressive symptoms in adolescents and to explore the probable mediators, including o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1753-1
更新日期:2012-08-01 00:00:00
abstract:UNLABELLED:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1668-1
更新日期:2005-07-01 00:00:00
abstract:UNLABELLED:Infection is a well recognised cause of spontaneous early preterm labour. Preterm labour of infective aetiology is refractory to the use of tocolytic agents and affected women have a higher risk of subsequent chorio-amnionitis and neonatal infection. Antibiotics used prophylactically for the prevention of pr...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014313
更新日期:1999-12-01 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:UNLABELLED:Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partia...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1405-1
更新日期:2004-04-01 00:00:00
abstract::The time of cord clamping in intrauterine growth-restricted (IUGR) neonates remains an area of uncertainty. This assessor-blinded randomized controlled trial compared the effects of delayed cord clamping (DCC) with early cord clamping (ECC) on the systemic blood flow (SBF) and cerebral hemodynamics in IUGR neonates of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-021-03959-7
更新日期:2021-01-21 00:00:00
abstract::We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-3081-y
更新日期:2018-03-01 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:UNLABELLED:Utilization of complementary and alternative medicine (CAM) among children/adolescents is popular. This review summarizes the international findings for prevalence and predictors of CAM use among children/adolescents. We therefore systematically searched four electronic databases (PubMed, Embase, PsycINFO, A...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-014-2300-z
更新日期:2014-11-01 00:00:00
abstract::Thrombocypenic purpura was noted in a 3-year-old Japanese girl with an active varicella infection. The administration of intravenous gamma globulin (IVG) drastically improved bleeding manifestations as well as the active varicella infection. We believe that IVG should be the first choice of therapy for thrombocytopeni...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441611
更新日期:1987-09-01 00:00:00
abstract::Neonatal acute respiratory distress syndrome (NARDS) reflects pulmonary surfactant dysfunction, and the usage of bovine surfactant (Calsurf) supplement may therefore be beneficial. To determine whether bovine surfactant given in NARDS can improve oxygenation and survival rate, we conducted a multicenter, randomized tr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03821-2
更新日期:2020-10-21 00:00:00
abstract::Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealin...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03328-5
更新日期:2019-04-01 00:00:00