Congenital hyperekplexia: five sporadic cases.

abstract：:This randomized double-blind placebo-controlled trial evaluated the effects of early postnatal oral vitamin A supplementation (VAS) in 196 inborn very-low birth weight (VLBW) infants requiring respiratory support at 24 h of age. Eligible infants were randomized to receive aqueous syrup of vitamin A (10,000 IU of retin...

journal_title：European journal of pediatrics

authors： Basu S,Khanna P,Srivastava R,Kumar A

更新日期：2019-08-01 00:00:00

abstract：UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five pa...

journal_title：European journal of pediatrics

authors： Sperl W,Murr C,Skladal D,Sass JO,Suormala T,Baumgartner R,Wendel U

更新日期：2000-01-01 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

authors： Vanhaesebrouck S,Allegaert K,Vanhole C,Devlieger H,Gewillig M,Proesmans W

更新日期：2003-09-01 00:00:00

abstract：:Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC...

journal_title：European journal of pediatrics

authors： Staretz-Chacham O,Aviram M,Morag I,Goldbart A,Hershkovitz E

更新日期：2018-11-01 00:00:00

abstract：:A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years. ...

journal_title：European journal of pediatrics

authors： Beekman RP,Hofstee N,Smeitink JA,Poll-The BT,Duran M

更新日期：1994-04-01 00:00:00

abstract：UNLABELLED:Self-medication is a common event. To use drugs correctly, a basic knowledge about drugs is required. Poor data are available about adults' drug knowledge. Furthermore, adolescents' basic drug knowledge has not been investigated. This study was designed in order to explore adolescents' drug use and knowledge...

journal_title：European journal of pediatrics

authors： Stoelben S,Krappweis J,Rössler G,Kirch W

更新日期：2000-08-01 00:00:00

abstract：:The purpose of this study was to determine the percentiles of interpopliteal distance to diagnose bowleg in 0-6 year-old children. Measurement of interpopliteal distance is a simple but valuable indicator in clinical examination to diagnose bowleg. We analyzed data from the anthropometry of Turkish children aged 0-6 y...

journal_title：European journal of pediatrics

authors： Kurtoglu S,Mazicioglu MM,Ozturk A,Hatipoglu N,Balci E,Ustunbas HB

更新日期：2011-09-01 00:00:00

abstract：:Maternal morbidity is associated with cesarean deliveries. However, new evidence suggests that short- and long-term neonatal morbidity is also associated. This includes respiratory morbidity with conflicting results. To determine whether mode of delivery has an impact on the long-term risk for respiratory morbidity in...

journal_title：European journal of pediatrics

authors： Baumfeld Y,Walfisch A,Wainstock T,Segal I,Sergienko R,Landau D,Sheiner E

更新日期：2018-11-01 00:00:00

abstract：UNLABELLED:In a Swiss screening programme for detection of congenital adrenal hyperplasia (CAH), 27 of over 120,000 newborns examined from 1992 to 1994 were further studied because of persistingly high 17 alpha hydroxyprogesterone (17OHP). Out of 27, 11 were later confirmed to have CAH by specific gas chromatography of...

journal_title：European journal of pediatrics

authors： Lange-Kubini K,Zachmann M,Kempken B,Torresani T

更新日期：1996-11-01 00:00:00

abstract：:The incidence of intussusception in infants varies around the world. The epidemiology of intussusception in France has never been prospectively studied. We performed a prospective observational study with systematic inclusion of all infants aged <1 year with suspected intussusception admitted to the emergency departme...

journal_title：European journal of pediatrics

authors： Fotso Kamdem A,Vidal C,Pazart L,Leroux F,Pugin A,Savet C,Sainte-Claire Deville G,Riou França L,Guillemot D,Massol J

更新日期：2017-03-01 00:00:00

abstract：UNLABELLED:Our aim was to study the frequency and clinical correlates of two radiographic patterns of bronchopulmonary dysplasia (BPD), the cystic BPD (cBPD) and the leaky lung syndrome (LLS). Radiographic findings of BPD from sixth day of life until term in a cohort of 82 very low birth weight (VLBW) infants were eval...

journal_title：European journal of pediatrics

authors： Hyödynmaa E,Korhonen P,Ahonen S,Luukkaala T,Tammela O

更新日期：2012-01-01 00:00:00

abstract：:In our clinic the decision on whether to continue with dietary treatment of phenylketonuria or not is left to each adolescent and adult patient after the advantages and disadvantages, as discussed in this paper, of continuing diet have been presented to them. As a result 61 of 132 patients have stopped diet or decline...

journal_title：European journal of pediatrics

authors： Brenton DP,Tarn AC,Cabrera-Abreu JC,Lilburn M

更新日期：1996-07-01 00:00:00

abstract：:A girl developed acute agranulocytosis (45/mm3), 37 days after the onset of infectious mononucleosis. The bone marrow showed myeloid hyperplasia with maturation arrest and erythroid hypoplasia. A normal amount of colony forming units of granulocytes and macrophages (CFU-GM) colonies with a relative high number of clus...

journal_title：European journal of pediatrics

authors： Sumimoto S,Kasajima Y,Hamamoto T,Miyanomae T,Iwai Y,Mayumi M,Mikawa H

更新日期：1990-07-01 00:00:00

abstract：UNLABELLED:The aim of this study was to assess the physical performance in long-term survivors of acute leukaemia in childhood and to evaluate the effects of anthracycline therapy. Electrocardiography, echocardiography and spiroergometry were carried out on 56 patients aged 9-28 years, of whom 44 patients had been trea...

journal_title：European journal of pediatrics

authors： Black P,Gutjahr P,Stopfkuchen H

更新日期：1998-06-01 00:00:00

abstract：:Local control of the primary tumour is a fundamental requirement for clinical cure. Towards this aim, the primary tumour must be diagnosed early and identified histologically. The size, extension, and spread within the patient must be defined precisely. In planning effective local therapy, additional questions must be...

journal_title：European journal of pediatrics

authors： Prindull G,Willert HG,Notter G

更新日期：1985-07-01 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

authors： Haberfellner H,Richter M

更新日期：1980-12-01 00:00:00

abstract：:We report on a 3-year-old boy presenting with left-sided eyelid myocloni due to an intracranial abscess harboring Haemophilus paraphrophilus. This is the first description of an intracranial infection with this pathogen in a child. ...

journal_title：European journal of pediatrics

authors： Hoefele J,Kroener C,Berweck S,Peraud A,Grabein B,Wintergerst U,Liese J

更新日期：2008-06-01 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：:In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especial...

journal_title：European journal of pediatrics

authors： Hendrickx G,Hoefsloot F,Kramer P,Van Haelst U

更新日期：1983-06-01 00:00:00

abstract：:The peak flow velocities in the middle cerebral artery were continuously recorded by transcranial Doppler sonography in 29 children. Arterial blood pressure and heart rates were measured every minute. The values observed during orthostasis and physical exercise were compared to baseline values obtained in the supine p...

journal_title：European journal of pediatrics

authors： Bode H

更新日期：1991-08-01 00:00:00

abstract：:Since traction-associated hypertension seems to be a relatively unknown phenomenon, a survey was done of its incidence in children treated with skeletal traction for fractures and orthopaedic diseases. The correlation with hypercalcaemia, a possible aetiological factor, was also explored. Blood pressure was recorded t...

journal_title：European journal of pediatrics

authors： Heij HA,Ekkelkamp S,Vos A

更新日期：1992-07-01 00:00:00

abstract：:A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical r...

journal_title：European journal of pediatrics

authors： Hommes FA

更新日期：1994-01-01 00:00:00

abstract：:The objective of this study was to determine the outcomes of Croatian children with biliary atresia. Health records of infants born in Croatia between January 1, 1992 and December 31, 2006 who were diagnosed with biliary atresia and treated at a single university center were reviewed. Survival rates were calculated wi...

journal_title：European journal of pediatrics

authors： Grizelj R,Vuković J,Novak M,Batinica S

更新日期：2010-12-01 00:00:00

abstract：:The effects of intravenous injections of the opiate antagonist naloxone (0.005-0.4 mg/kg body weight) on respiratory pattern, apnoea duration and frequency were investigated in six infants with severe sleep apnoea syndrome. Since several authors found elevated plasma- and CSF-levels of endogenous opioids (endorphines)...

journal_title：European journal of pediatrics

authors： Haidmayer R,Kerbl R,Meyer U,Kerschhaggl P,Kurz R,Kenner T

更新日期：1986-10-01 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

authors： Lala R,Matarazzo P,Chiabotto P,de Sanctis C,Canavese F,Hadziselimovic F

更新日期：1993-01-01 00:00:00

abstract：UNLABELLED:Although Shiga toxin-producing Escherichia coli (STEC) has been isolated in Brazil, severe manifestations of the infection, such as haemorrhagic colitis and haemolytic-uraemic syndrome, are extremely rare in our population. Enteropathogenic Escherichia coli (EPEC) is the main aetiological agent of acute infa...

journal_title：European journal of pediatrics

authors： Palmeira P,Carbonare SB,Amaral JA,Tino-De-Franco M,Carneiro-Sampaio MM

更新日期：2005-01-01 00:00:00

abstract：:Education is necessary to improve child physical abuse detection and management. A few studies have described national child abuse training programs, but none has measured changes in knowledge among participants. A collaboration of child abuse experts from the USA, an academic pediatric department, and a non-governmen...

journal_title：European journal of pediatrics

authors： Soldatou A,Stathi A,Panos A,Paouri B,Koutsoukou E,Krepis P,Tsolia M,Oral R,Leventhal JM

更新日期：2020-09-01 00:00:00

abstract：UNLABELLED:To investigate the toxic effect of tobacco smoke on the fetus, we measured in cord blood the concentrations of alpha-fetoprotein (AFP), the principal serum protein in early ontogenic development, and erythropoietin (EPO), as an index of chronic fetal hypoxia. A total of 103 consecutively enrolled term newbor...

journal_title：European journal of pediatrics

authors： Beratis NG,Varvarigou A,Christophidou M,Vassilakos P,Tsapanos V,Kourounis G

更新日期：1999-07-01 00:00:00

abstract：:An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in f...

journal_title：European journal of pediatrics

authors： Zimmer EZ,Taub E,Sova Y,Divon MY,Pery M,Peretz BA

更新日期：1985-11-01 00:00:00

abstract：:A South African family with autosomal dominant split hand, split foot (SHSF) malformation has been studied. The pedigree was unusual in that three unaffected siblings with normal parents had each produced affected offspring. New mutation, germinal mosaicism and autosomal recessive inheritance are unlikely. Possible ex...

journal_title：European journal of pediatrics

authors： Spranger M,Schapera J

更新日期：1988-02-01 00:00:00