Cortical malformations: a frequent cause of epilepsy in children.

abstract：:The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...

journal_title：European journal of pediatrics

authors： Cholevas V,Challa A,Lapatsanis PD,Andronikou S

更新日期：2008-02-01 00:00:00

abstract：:The aim of this study was to assess the influence of active and passive maternal smoking on placenta total oxidant/antioxidant status in term infants. The levels of cord blood total antioxidant capacity (TAC), total oxidant status (TOS), and oxidative stress index (OSI) were measured in samples of fetal placental tiss...

journal_title：European journal of pediatrics

authors： Aycicek A,Varma M,Ahmet K,Abdurrahim K,Erel O

更新日期：2011-05-01 00:00:00

abstract：:The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...

journal_title：European journal of pediatrics

authors： Alexandropoulou O,Kossiva L,Haliotis F,Giannaki M,Tsolia M,Panagiotou IP,Karavanaki K

更新日期：2013-06-01 00:00:00

abstract：UNLABELLED:We describe two adolescent girls with a congenital portosystemic shunt who exhibited hyperandrogenism in addition to insulin resistant hyperinsulinaemia. Case 1 was referred to our clinic to undergo a routine clinical work-up prior to tonsillectomy at 14 years of age. Mild liver dysfunction was identified an...

journal_title：European journal of pediatrics

authors： Satoh M,Yokoya S,Hachiya Y,Hachiya M,Fujisawa T,Hoshino K,Saji T

更新日期：2001-05-01 00:00:00

abstract：UNLABELLED:Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth w...

journal_title：European journal of pediatrics

authors： Baumgartner MR,Rabier D,Nassogne MC,Dufier JL,Padovani JP,Kamoun P,Valle D,Saudubray JM

更新日期：2005-01-01 00:00:00

abstract：:Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinuous pattern in most fibers. In both patients dyst...

journal_title：European journal of pediatrics

authors： Minetti C,Tanji K,Chang HW,Medori R,Cordone G,DiMauro S,Bonilla E

更新日期：1993-10-01 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

authors： Michalk DV,Ringeisen R,Tittor F,Lauffer H,Deeg KH,Böhles HJ

更新日期：1988-04-01 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

authors： Adan L,Bussières L,Dinand V,Zerah M,Pierre-Kahn A,Brauner R

更新日期：2000-05-01 00:00:00

abstract：UNLABELLED:Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already be...

journal_title：European journal of pediatrics

authors： Boon M,Jorissen M,Proesmans M,De Boeck K

更新日期：2013-02-01 00:00:00

abstract：:Congenital syphilis is now rare in Australia, particularly in suburban areas. The disease is both preventable and treatable, however, missed or late diagnosis can lead to catastrophic effects. We report an infant who developed congenital syphilis after multiple opportunities for preventing this condition were missed. ...

journal_title：European journal of pediatrics

authors： Hargrove A,Curtis N

更新日期：2006-05-01 00:00:00

abstract：:We aimed to determine whether precocious adrenarche (PA) has a different impact on screening tests for metabolic issues and pubertal timing in boys and girls born appropriate for gestational age (AGA). Puberty and initial metabolic screening results of 47 girls and 23 boys with PA born AGA followed up from our outpati...

journal_title：European journal of pediatrics

authors： Uçar A,Saka N,Baş F,Bundak R,Günöz H,Darendeliler F

更新日期：2012-11-01 00:00:00

abstract：:We discuss the unusual presentation of acquired toxoplasmosis in a girl with severe and transient hemidystonia as a unique symptom. Serum titres of anti-toxoplasma antibodies increased whereas no specific antibody response in the CSF was observed. While symptomatic drugs were inefficacious, specific anti-toxoplasmosis...

journal_title：European journal of pediatrics

authors： Micheli R,Perini A,Duse M

更新日期：1994-10-01 00:00:00

abstract：:Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristi...

journal_title：European journal of pediatrics

authors： Lehnert W,Sperl W,Suormala T,Baumgartner ER

更新日期：1994-01-01 00:00:00

abstract：:Separate glomerular filtration rates were evaluated in 21 children with uni- or bilateral ureteropelvic junction stenosis, using the Tc-99m DTPA complex and the scintillation camera. The grade of alteration seen on urograms has influenced the surgeon in his decision to use a conservative or a surgical treatment, where...

journal_title：European journal of pediatrics

authors： Piepsz A,Hall M,Ham HR,Perlmutter N,Collier F

更新日期：1986-08-01 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

authors： Massin MM,Nitsch GB,Däbritz S,Seghaye MC,Messmer BJ,von Bernuth G

更新日期：1998-02-01 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

authors： Raghavachar A,Ludwig WD,Bartram CR

更新日期：1988-06-01 00:00:00

abstract：UNLABELLED:Early recognition by newborn screening and oral biotin supplementation may prevent clinical and neurological deficits in profound biotinidase deficiency (residual plasma biotinidase activity <10%). In order to evaluate possible correlations of molecular characteristics, onset and continuation of treatment an...

journal_title：European journal of pediatrics

authors： Möslinger D,Mühl A,Suormala T,Baumgartner R,Stöckler-Ipsiroglu S

更新日期：2003-12-01 00:00:00

abstract：UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...

journal_title：European journal of pediatrics

authors： Waldvogel K,Bossart W,Huisman T,Boltshauser E,Nadal D

更新日期：1996-09-01 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

authors： Mertens L,Ganame J,Eyskens B

更新日期：2008-01-01 00:00:00

abstract：:When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed b...

journal_title：European journal of pediatrics

authors： Traupe H,Happle R

更新日期：1983-03-01 00:00:00

abstract：:The use of supra-physiological, exogenous corticosteroids in pregnancy may lead to neonatal adrenal suppression. We report on a single-center, case series study carried out between 2006 and 2014, which included all newborns (n = 16) of mothers using prednisolone ≥10 mg/day during pregnancy. Newborns were routinely ass...

journal_title：European journal of pediatrics

authors： de Vetten L,van Stuijvenberg M,Kema IP,Bocca G

更新日期：2017-08-01 00:00:00

abstract：UNLABELLED:We examined published studies from the United States, Europe, and Latin America to better understand geographic and temporal variability in the epidemiology of invasive pneumococcal disease (IPD) in young children. A comparison of IPD incidence levels reported for children <5 years of age within the United S...

journal_title：European journal of pediatrics

authors： Hausdorff WP

更新日期：2002-12-01 00:00:00

abstract：UNLABELLED:The use of cannabis as both a therapeutic agent and recreational drug is common, and its availability is increasing as a result of legalization in many countries. Among older children, the manifestations of cannabis intoxication are numerous and include both neurological and systemic manifestations that are ...

journal_title：European journal of pediatrics

authors： Lavi E,Rekhtman D,Berkun Y,Wexler I

更新日期：2016-03-01 00:00:00

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-Mente...

journal_title：European journal of pediatrics

authors： Abe K,Okano M,Sasaki H

更新日期：1980-10-01 00:00:00

abstract：UNLABELLED:Suppurative parotitis is uncommon in newborns. During a 9-year study period, five cases of neonatal suppurative parotitis were detected in 3,624 hospital admissions. The relative risk of developing neonatal suppurative parotitis in admitted infants was 5.52 (0.62-49.35). Staphylococcus aureus was the causati...

journal_title：European journal of pediatrics

authors： Sabatino G,Verrotti A,de Martino M,Fusilli P,Pallotta R,Chiarelli F

更新日期：1999-04-01 00:00:00

abstract：:The concentration of mRNA of insulin-like growth factor-II is (IGF-II) much elevated in some embryonic tumours such as Wilms tumour (nephroblastoma). In order to prove whether or not IGF-II is produced by the tumour tissue, IGF-II was extracted from freshly frozen tissue of Wilms tumour and hepatoblastoma. Normal adja...

journal_title：European journal of pediatrics

authors： Ren-Qiu Q,Ruelicke T,Hassam S,Haselbacher GK,Schoenle EJ

更新日期：1993-02-01 00:00:00

abstract：:The glycogen storage disorders (GSD)-I, -III, -VI and -VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol l...

journal_title：European journal of pediatrics

authors： Schmitz G,Hohage H,Ullrich K

更新日期：1993-01-01 00:00:00

abstract：:Since immunological disorders have been demonstrated in patients with Diamond-Blackfan anaemia (DBA), intravenous immunoglobulins (IVIG) were administered to a 14-year-old girl with DBA and congenital malformations, previously treated with corticosteroids and blood transfusions. No therapeutic effect was observed. ...

journal_title：European journal of pediatrics

authors： Miceli Sopo S,Pesaresi MA,Pastore M,Stabile A

更新日期：1990-08-01 00:00:00

abstract：UNLABELLED:A prospective study was undertaken throughout Wales over the period from 1 January 1995 to 30 March 1997, to determine the incidence of childhood inflammatory bowel disease (IBD). Thirty-eight (24 male) new cases of IBD were reported. Twenty (16 male) of the reported cases had Crohn's disease, 11 (5 male) ha...

journal_title：European journal of pediatrics

authors： Hassan K,Cowan FJ,Jenkins HR

更新日期：2000-04-01 00:00:00

abstract：:The topography and morphology of the lacrimal ducts in newborn infants was demonstrated by means of post mortem dacryocystograms and microphotograms of histologic slides. Because of bends in the course of the lower tear duct, a percentage of probings will fail to effect satisfactory perforation of the Hasner membrane....

journal_title：European journal of pediatrics

authors： Müller KM,Busse H,Osmers F

更新日期：1978-09-08 00:00:00