Abstract:
:Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Menten kinetics.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Abe K,Okano M,Sasaki Hdoi
10.1007/BF00445896subject
Has Abstractpub_date
1980-10-01 00:00:00pages
69-71issue
1eissn
0340-6199issn
1432-1076journal_volume
135pub_type
杂志文章abstract::In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of ch...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0679-0
更新日期:2008-12-01 00:00:00
abstract:UNLABELLED:Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular gen...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1925-z
更新日期:2013-05-01 00:00:00
abstract:UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-0954-4
更新日期:2002-07-01 00:00:00
abstract::A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02190657
更新日期:1994-08-01 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:INTRODUCTION:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. CASE REPORT:We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in M...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-008-0871-2
更新日期:2009-08-01 00:00:00
abstract::Diagnostic tools for the management of acute osteomyelitis (OM) and septic arthritis (SA) have improved over the last decade. To investigate the influence and availability of magnetic resonance imaging (MRI) and nucleic acid testing (NAT), a retrospective cohort study was done. Patients admitted with acute OM or SA be...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3157-3
更新日期:2018-07-01 00:00:00
abstract::Histochemical and immunohistochemical studies performed in only a few cases of sinus histiocytosis with massive lymphoadenopathy (SHML) indicated that SHML cells belong to the macrophage--histiocyte system, though their exact origin is still uncertain. We analyzed the morphological, antigenic and enzymatic characteris...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957571
更新日期:1992-09-01 00:00:00
abstract::A 7-year-old girl was admitted with a severe abdominal pain. Abdominal ultrasound and CT revealed a large splenic infarction, leading to the diagnosis of chronic myeloid leukemia. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1675-y
更新日期:2012-07-01 00:00:00
abstract:UNLABELLED:A suprasellar arachnoid cyst may cause disorders of growth, puberty and hypothalamic-pituitary function, due to the proximity of the cyst to the hypothalamic-pituitary area. A total of 30 patients (17 boys) with cyst diagnosed at 4.3 +/- 1 years were routinely evaluated at 5.4 +/- 1 years; 24 of them had one...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051285
更新日期:2000-05-01 00:00:00
abstract:UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00008442
更新日期:2001-06-01 00:00:00
abstract::Portal hypertension was observed in a 17-year-old girl with urticaria pigmentosa since 2 months of age. Liver biopsies showed portal and sinusoidal infiltration with mast cells although spleen biopsies showed only fibrosis. CONCLUSION. Portal hypertension is a complication of systemic mastocytosis that can lead to dea...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959789
更新日期:1995-10-01 00:00:00
abstract::Heart rate variability (HRV) is currently considered the most valuable non-invasive test to investigate the autonomic nervous system function, based on the fact that fast fluctuations might specifically reflect changes of sympathetic and vagal activity. An association between abnormal values of HRV and brain impairmen...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03882-3
更新日期:2020-11-27 00:00:00
abstract::Of all newborn infants, 5% require some degree of basic life support at birth. Newborn resuscitation therefore is one of the most frequent procedures carried out in medicine. It is therefore important that the routines in use are evidence based. Newborn resuscitation can be divided into ten steps: (1) initial stabilis...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014284
更新日期:1998-01-01 00:00:00
abstract::In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02125433
更新日期:1993-01-01 00:00:00
abstract:UNLABELLED:Biochemical and molecular genetic studies were performed on the enzyme variants of two patients compound heterozygous for glucose phosphate isomerase (GPI) deficiency, both suffering from severe haemolytic anaemia. The enzymes of case 1 (GPI 'Zwickau') and case 2 (GPI 'Nordhorn' [25]), revealed reduced GPI a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050674
更新日期:1997-08-01 00:00:00
abstract::Henoch-Schonlein purpura (HSP) is an inflammatory vasculitis involving the skin, joints, gastrointestinal (GI) tract, and kidneys. This is the first case report describing a 5-year-old girl with HSP presenting duodenal involvement which might be associated with superior mesenteric artery syndrome (SMAS). ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0254-5
更新日期:2007-05-01 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::To increase our knowledge of the clonal relationship of leukaemia relapse, the genotypes and phenotypes of ten children with acute lymphoblastic leukaemia (ALL) were examined at initial diagnosis and relapse. Seven patients were phenotyped as common ALL, two as mixed, and one as T-cell ALL (T-ALL). Comparative analyse...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441975
更新日期:1988-06-01 00:00:00
abstract::Cardiac imaging has had significant influence on the science and practice of pediatric cardiology. Especially the development and improvements made in non-invasive imaging techniques, like echocardiography and cardiac magnetic resonance imaging (MRI), have been extremely important. Technical advancements in the field ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-007-0544-6
更新日期:2008-01-01 00:00:00
abstract::We report a case of an infected subgaleal hematoma caused by an unusual micro-organism in a previously healthy 11-month-old girl. Our patient presented at the emergency department with an increasing scalp swelling for 2 weeks, and culture of the evacuated fluid yielded Streptococcus pneumoniae. Although she was born a...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-009-0922-3
更新日期:2009-06-01 00:00:00
abstract::Perinatal transmission remains the main cause of HIV infection in the pediatric population. Treatment of HIV-infected children has become less of a problem in resource-rich countries with a remarkable decrease of perinatal infections, resulting in an effective prevention of mother-to-child transmission and antiretrovi...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-008-0914-8
更新日期:2009-04-01 00:00:00
abstract:INTRODUCTION:Newborns with intrauterine growth retardation (IUGR) have multiple risk factors for developing hypoglycaemia. Hyperinsulinism, both transient and prolonged, is one of the major risk factors responsible for the hypoglycaemia observed in some newborns with IUGR. Once the child has progressed beyond the infan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0371-1
更新日期:2007-10-01 00:00:00
abstract:UNLABELLED:Over the past decade, concerns about bullying and its effects on school health have grown. However, few studies in Turkey have examined the prevalence of bullying in childhood and adolescence and its association with health problems. The current study aimed to examine the prevalence and manifestation of bull...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1782-9
更新日期:2012-10-01 00:00:00
abstract:UNLABELLED:This retrospective study attempts to assess the size and growth pattern of the pulmonary artery about 1 year after neonatal arterial switch operation for simple transposition of the great arteries. Sixty-seven patients underwent cardiac catheterization, including catheterization of the right and left pulmona...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050777
更新日期:1998-02-01 00:00:00
abstract:UNLABELLED:Hypotension is a commonly diagnosed and treated complication of extremely low gestational age newborns (ELGAN), but enormous variation in diagnosis, management and clinical practice has been documented. We sought to evaluate practice regarding the management of hypotension in ELGANs and developed a web-based...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-013-2251-9
更新日期:2014-06-01 00:00:00
abstract::Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 19...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1222-7
更新日期:2010-11-01 00:00:00
abstract::Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0134-z
更新日期:2006-10-01 00:00:00
abstract:UNLABELLED:The need to reappraise sedation policy is dictated by newer noninvasive imaging modalities. In this study we evaluate the safety and efficacy of rectally-administered thiopental in children undergoing MRI. Eighty-three consecutive patients with congenital heart disease (mean age 2.9 years, SD 2.5) undergoing...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:
更新日期:1996-09-01 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