Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot.

abstract：:Homeopathic globules are frequently used in children as a first-line treatment. Most of these globules are coated with sugar substitutes like xylitol; these substitutes are known for their laxative effect. Our patient shows that consumption of globules coated with xylitol does not have only laxative effects. It may ca...

journal_title：European journal of pediatrics

authors： Wille D,Hauri-Hohl M,Vonbach P,Tomaske M,Padden B,Bernet V

更新日期：2010-12-01 00:00:00

abstract：:A case of painful bilateral hip effusions resolving spontaneously in the diuretic phase of steroid responsive nephrotic syndrome in a 6-year-old girl is reported. ...

journal_title：European journal of pediatrics

authors： Gupta S,Nirmal JM,Lennox CM

更新日期：1993-02-01 00:00:00

abstract：:Rasmussen's syndrome (RS) is a rare acquired progressive inflammatory encephalopathy characterized by drug-resistant partial seizures and cognitive deterioration resulting from a gradual impairment and a subsequent atrophy of a single brain hemisphere. It was firstly described by Theodore Rasmussen in 1958. The origin...

journal_title：European journal of pediatrics

authors： Mastrangelo M,Mariani R,Menichella A

更新日期：2010-08-01 00:00:00

abstract：UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...

journal_title：European journal of pediatrics

authors： Ohta T,Nishiyama S,Nakamura T,Saku K,Maung KK,Matsuda I

更新日期：1998-04-01 00:00:00

abstract：:Septo-optic dysplasia (SOD) is a heterogeneous brain midline anomaly associated with ophthalmological, endocrinological, and/or neurodevelopmental symptoms. The clinical phenotype correlates with abnormal brain magnetic resonance imaging (MRI) findings. However, variations of the septum pellucidum (SP) appearance and ...

journal_title：European journal of pediatrics

authors： Riedl S,Vosahlo J,Battelino T,Stirn-Kranjc B,Brugger PC,Prayer D,Müllner-Eidenböck A,Kapelari K,Blümel P,Waldhör T,Krasny J,Lebl J,Frisch H

更新日期：2008-11-01 00:00:00

abstract：UNLABELLED:The objective of this study was to study the experiences of parents of preterm infants who use social networking sites and the potential of such sites for gathering information and facilitating personal exchange. An anonymous self-reporting questionnaire was administered to parents of infants below 1,500 g b...

journal_title：European journal of pediatrics

authors： Gabbert TI,Metze B,Bührer C,Garten L

更新日期：2013-12-01 00:00:00

abstract：:Retraction Note to: Eur J Pediatr (1994) 153:668-671 DOI 10.1007/BF02190689. This article, "Adenosine triphosphate treatment for supraventricular tachycardia in infants", published in the European Journal of Pediatrics (1994) 153/9: 668-671, Springer-Verlag 1994, has been retracted at the request of the Publisher as i...

journal_title：European journal of pediatrics

authors：

更新日期：2015-11-01 00:00:00

abstract：:Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...

journal_title：European journal of pediatrics

authors： Basatemur E,Hunter R,Horsfall L,Sutcliffe A,Rait G

更新日期：2017-10-01 00:00:00

abstract：:Relevant findings are reported in an 8-year-old boy with skin infection due to Staphylococcus aureus producing toxic shock syndrome toxin-1 without shock but with an increase in antibody titre against the toxin. ...

journal_title：European journal of pediatrics

authors： Nadal D,Hunziker UA,Bauersfeld U,Pfister H,Hitzig WH

更新日期：1989-01-01 00:00:00

abstract：:This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of beta zero-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive inc...

journal_title：European journal of pediatrics

authors： Galanello R,Lilliu F,Bertolino F,Cao A

更新日期：1991-04-01 00:00:00

abstract：:The description and analysis of the utilisation of medical services is of particular importance reflecting childhood morbidity. Therefore, our aim was to describe episode- and person-based rates of hospital admission in Germany, by focusing on the three most important clinically relevant categories, accident injuries,...

journal_title：European journal of pediatrics

authors： Schnabel E,Sausenthaler S,Liese J,Herbarth O,Borte M,Schaaf B,Krämer U,von Berg A,Wichmann HE,Heinrich J,LISA-Study-Group.

更新日期：2009-08-01 00:00:00

abstract：:As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and gamma-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young ...

journal_title：European journal of pediatrics

authors： Tazawa Y,Yamada M,Nakagawa M,Tada K,Konno T,Ohi R,Kasai M

更新日期：1986-04-01 00:00:00

abstract：:Positional plagiocephaly (PP) denotes flattening of the skull that occurs frequently in healthy infants. Aim of this study was to estimate the prevalence of positional plagiocephaly and to identify the risk factors in a cohort of healthy infants in order to help prevention of PP. In a prospective design, all healthy f...

journal_title：European journal of pediatrics

authors： Ballardini E,Sisti M,Basaglia N,Benedetto M,Baldan A,Borgna-Pignatti C,Garani G

更新日期：2018-10-01 00:00:00

abstract：:The etiology of asthma includes lifestyle factors. Breastfeeding and introduction of complementary foods have been suggested to affect asthma risk, but the scientific foundation is not solid. Children from the birth cohort All Babies In Southeast Sweden study were included (n = 9727). Breastfeeding duration and timing...

journal_title：European journal of pediatrics

authors： Klingberg S,Brekke HK,Ludvigsson J

更新日期：2019-03-01 00:00:00

abstract：:We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) with suspected hypogonadism. All subjects received a single injection of hCG (5000 U/1.7 m2) and 1 month later,...

journal_title：European journal of pediatrics

authors： Kauschansky A,Frydman M,Nussinovitch M,Varsano I

更新日期：1995-11-01 00:00:00

abstract：:Understanding which children are at increased risk for poor outcome with COVID-19 is critical. In this study, we link pediatric population-based data from the US Center for Disease Control and Prevention to COVID-19 hospitalization and in-hospital death. In 27,045 US children with confirmed COVID-19, we demonstrate th...

journal_title：European journal of pediatrics

authors： Moreira A,Chorath K,Rajasekaran K,Burmeister F,Ahmed M,Moreira A

更新日期：2021-01-20 00:00:00

abstract：INTRODUCTION:Prevention of obesity and overweight is an important target for health promotion. Early prevention requires an intervention during childhood and adolescence. At these stages, the game could be an appropriate means to teach nutrition knowledge and to influence dietary behaviour. To this end, the authors dev...

journal_title：European journal of pediatrics

authors： Amaro S,Viggiano A,Di Costanzo A,Madeo I,Viggiano A,Baccari ME,Marchitelli E,Raia M,Viggiano E,Deepak S,Monda M,De Luca B

更新日期：2006-09-01 00:00:00

abstract：:Growth hormone (GH) secretion was determined by evaluating ultradian GH profiles for 12 h and GH responses to insulin stimulated hypoglycaemia (ITT) in 28 stunted boys with beta-thalassaemia major aged 15.2-17.4 years, who presented with pubertal failure (FP). Healthy non thalassaemia prepubertal boys (n = 10) aged 7....

journal_title：European journal of pediatrics

authors： Chatterjee R,Katz M,Cox T,Bantock H

更新日期：1993-09-01 00:00:00

abstract：:Specialist paediatric services manage a variety of presentations of functional somatic symptoms. We aimed to describe the presentation and management of children and adolescents with somatic symptom and related disorders (SSRDs) requiring admission to a tertiary children's hospital with the objective of informing the ...

journal_title：European journal of pediatrics

authors： Wiggins A,Court A,Sawyer SM

更新日期：2020-11-13 00:00:00

abstract：UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...

journal_title：European journal of pediatrics

authors： Musebeck J,Mohnike K,Beye P,Tönnies H,Neitzel H,Schnabel D,Grüters A,Wieacker PF,Stumm M

更新日期：2001-09-01 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

authors： Mohnike K,Dörffel W,Timme J,Kluba U,Aumann V,Vorwerk P,Mittler U

更新日期：1997-04-01 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

authors： Küster W,Majewski F

更新日期：1986-04-01 00:00:00

abstract：:Newborns are exposed to mechanical and oxidative stress during labor and to relative hyperoxia thereafter during the course of adaptation to the extrauterine conditions. Part of the adaptation mechanism is the rapid degradation of fetal hemoglobin and the oxidation of its heme moiety by heme oxygenases (HOs). Heme oxy...

journal_title：European journal of pediatrics

authors： Maróti Z,Katona M,Orvos H,Németh I,Farkas I,Túri S

更新日期：2007-10-01 00:00:00

abstract：:An 18-month-old child with partial DiGeorge syndrome developed aplastic anaemia during an acute adenovirus infection. Assessment of the child's immune system revealed T-cell subset abnormalities consistent with DiGeorge syndrome. A possible link between the underlying immune deficiency and the observed complication is...

journal_title：European journal of pediatrics

authors： Tuvia J,Weisselberg B,Shif I,Keren G

更新日期：1988-08-01 00:00:00

abstract：UNLABELLED:The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine gi...

journal_title：European journal of pediatrics

authors： Brauner R,Pierrepont S,Bignon-Topalovic J,McElreavey K,Bashamboo A

更新日期：2015-06-01 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：:The incidence of urolithiasis in children is increasing. Adequate knowledge of treatment modalities and surgical options is therefore essential for every pediatrician. Surgical approaches to urolithiasis in children continue to evolve with advancements in technology and sophistication of current equipment and techniqu...

journal_title：European journal of pediatrics

authors： Hwang K,Mason MD,Peters CA

更新日期：2011-06-01 00:00:00

abstract：:Two children with congenital cytomegalovirus infection and intracerebral echogenicities were investigated by computer sonography and colour Doppler imaging (CDI). By simultaneous imaging of brain tissue and CDI, blood flow within the stripe-like echogenicities of the basal ganglia was demonstrated. Using CDI the echog...

journal_title：European journal of pediatrics

authors： Ries M,Deeg KH,Heininger U

更新日期：1990-11-01 00:00:00

abstract：UNLABELLED:The symptoms of urinary tract infections in infants are very non-specific and have historically included prolonged hyperbilirubinaemia. We studied the results of routine urine samples in 319 infants with prolonged jaundice. Convincing findings of UTI was not found in any of these children even if one of them...

journal_title：European journal of pediatrics

authors： Chowdhury T,Kisat H,Tullus K

更新日期：2015-07-01 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