Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).

abstract：:A series of information processing tasks was administered to 22 PKU children aged 8.5 years who had been under dietary treatment since birth as well as to 20 controls of the same age. This contribution presents the results of two tasks from this series: a continuous performance task and a calculation task. The continu...

journal_title：European journal of pediatrics

authors： de Sonneville LM,Schmidt E,Michel U,Batzler U

更新日期：1990-01-01 00:00:00

abstract：UNLABELLED:Paediatric care places great demands on interpersonal communication skills, especially as regards the handling of psychosocial issues. Recent shifts in paediatric morbidity and increases in patient empowerment furthermore emphasize the need for continuing paediatric education in communication skills. It is, ...

journal_title：European journal of pediatrics

authors： van Dulmen AM,Holl RA

更新日期：2000-07-01 00:00:00

abstract：:Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear po...

journal_title：European journal of pediatrics

authors： Kurnaz E,Duminuco P,Aycan Z,Savaş-Erdeve Ş,Muratoğlu Şahin N,Keskin M,Bayramoğlu E,Bonomi M,Çetinkaya S

更新日期：2018-03-01 00:00:00

abstract：:Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the...

journal_title：European journal of pediatrics

authors： Mindlina I

更新日期：2020-02-01 00:00:00

abstract：:Blunt cardiac injury may occur in patients after suffering nonpenetrating trauma of the chest. It encompasses a wide spectrum of cardiac injury with varied severity and clinical presentation. Electrocardiographic abnormalities are frequently encountered. This article presents a case of a child who presented with compl...

journal_title：European journal of pediatrics

authors： Udink ten Cate FE,van Heerde M,Rammeloo LA,Hruda J

更新日期：2008-11-01 00:00:00

abstract：:Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We p...

journal_title：European journal of pediatrics

authors： Vargiami EG,Farmaki E,Tasiopoulou D,Zafeiriou DI,Badouraki M,Anastasiou A,Karkos C,Gombakis N,Athanasiou-Metaxa M

更新日期：2010-04-01 00:00:00

abstract：UNLABELLED:Repeated invasive procedures occur routinely in neonates who require intensive care, causing pain at a time when it is developmentally unexpected. Multiple lines of evidence suggest that repeated and prolonged pain exposure alters their subsequent pain processing, long-term development, and behaviour. Primar...

journal_title：European journal of pediatrics

authors： Gitto E,Pellegrino S,Manfrida M,Aversa S,Trimarchi G,Barberi I,Reiter RJ

更新日期：2012-06-01 00:00:00

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：: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：:Serum IgE concentration was measured on the 5th day of life in 943 infants. All infants were included in a 3 month follow-up study. The frequency of cow's milk allergy was studied according to either family history, IgE level, or both. Feeding (mother's milk or formula feeding) was taken into account. Manifestations s...

journal_title：European journal of pediatrics

authors： Vandenplas Y,Sacre L

更新日期：1986-12-01 00:00:00

abstract：UNLABELLED:There are a number of respiratory diseases affecting infants in which there is surfactant dysfunction or deficiency. Surfactant is inactivated by cholesterol, free fatty acids and bilirubin in meconium aspiration syndrome, by haemoglobin and red blood cell lipids in pulmonary haemorrhage and plasma proteins ...

journal_title：European journal of pediatrics

authors： Greenough A

更新日期：2000-09-01 00:00:00

abstract：:Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...

journal_title：European journal of pediatrics

authors： Butenandt O

更新日期：1979-01-18 00:00:00

abstract：:L-asparaginase is an effective antileukaemic drug and a potent inhibitor of hepatic protein synthesis. Its effect on lipid metabolism was studied in two cohorts of children with ALL, one of whom received L-asparaginase concomitantly with three other drugs (protocol BFM 79). In the second protocol (BFM 83) administrati...

journal_title：European journal of pediatrics

authors： Cremer P,Lakomek M,Beck W,Prindull G

更新日期：1988-01-01 00:00:00

abstract：UNLABELLED:To study the developmental effects of prenatal exposure to opiates, a prospective follow up study of 34 drug-exposed (opiates and nicotine) and 42 reference infants (nicotine exposure only) was conducted from January 1992 to September 1995. At the time of delivery, 12 of 34 mothers used opiates without medic...

journal_title：European journal of pediatrics

authors： Bunikowski R,Grimmer I,Heiser A,Metze B,Schäfer A,Obladen M

更新日期：1998-09-01 00:00:00

abstract：UNLABELLED:Tracheal bronchus (TB) associated with VACTERL has not been reported previously. A 5-month-old girl with VACTERL association was ventilator-dependent following surgical closure of a patent ductus arteriosus (PDA). Chest radiographs showed persistent hyperinflation of the right upper lobe. Bronchoscopy showed...

journal_title：European journal of pediatrics

authors： Kairamkonda V,Thorburn K,Sarginson R

更新日期：2003-03-01 00:00:00

abstract：UNLABELLED:We describe the case of a 6-year-old girl brought to the emergency department for the sudden onset of anticholinergic syndrome after the ingestion of a few home-made partially debittered lupine beans. She complained of blurry vision, headache, photophobia and nausea. No specific treatment was needed, and the...

journal_title：European journal of pediatrics

authors： Daverio M,Cavicchiolo ME,Grotto P,Lonati D,Cananzi M,Da Dalt L

更新日期：2014-12-01 00:00:00

abstract：UNLABELLED:The effect of different feeding regimens, notably the use of hydrolysed cow's milk formulas, on the development of allergic reactions and the development of cow's milk protein-IgG antibodies is still disputed. We prospectively compared the development of allergic manifestations and cow's milk protein-IgG ant...

journal_title：European journal of pediatrics

authors： Keller KM,Bürgin-Wolff A,Lippold R,Wirth S,Lentze MJ

更新日期：1996-04-01 00:00:00

abstract：:The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...

journal_title：European journal of pediatrics

authors： Güttler F,Guldberg P

更新日期：1996-07-01 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

authors： Kochar IS,Hussain K

更新日期：2007-10-01 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：:Despite being one of the most common congenital defects in boys, the etiology of hypospadias remains largely unknown. In this case-referent study, we evaluated a wide spectrum of potential risk factors for hypospadias. Cases were identified from the hospital information system, and referents were recruited through the...

journal_title：European journal of pediatrics

authors： Brouwers MM,Feitz WF,Roelofs LA,Kiemeney LA,de Gier RP,Roeleveld N

更新日期：2007-07-01 00:00:00

abstract：:Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diag...

journal_title：European journal of pediatrics

authors： Aytekin C,Dogu F,Tanir G,Guloglu D,Santisteban I,Hershfield MS,Ikinciogullari A

更新日期：2010-03-01 00:00:00

abstract：:An 8-month-old boy and a 7-month-old girl presented with an acute, Coombs-positive auto-immune haemolytic anaemia and severe hepatitis. The clinical manifestations were pallor, jaundice and hepatomegaly. The liver histology revealed diffuse giant cell transformation and extensive necrosis with central-portal bridging....

journal_title：European journal of pediatrics

authors： Brichard B,Sokal E,Gosseye S,Buts JP,Gadisseux JF,Cornu G

更新日期：1991-03-01 00:00:00

abstract：:Scimitar syndrome is a rare congenital cardiopulmonary malformation characterized by hypoplasia of the right lung and drainage of the right pulmonary veins into the vena cava inferior. It may also be associated with cardiac dextroversion and anomalies of the tracheobronchial system, cardiovascular system, and diaphrag...

journal_title：European journal of pediatrics

authors： Demir E,Aşkin M,Midyat L,Gülen F,Ulger Z,Tanaç R,Bayraktaroğlu S

更新日期：2010-10-01 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

authors： Valentini AL,De Gaetano AM,Destito C,Marino V,Minordi LM,Marano P

更新日期：2002-07-01 00:00:00

abstract：:Although thyroid medications are frequently prescribed during pregnancy, paediatricians treating the respective neonates often have no information about the underlying maternal thyroid disease, and inconsistencies in postnatal diagnostics may result. We analysed a cohort of 1819 mothers admitted for delivery in 1 year...

journal_title：European journal of pediatrics

authors： Weissenfels PC,Woelfle J,Korsch E,Joergens M,Gohlke B

更新日期：2018-11-01 00:00:00

abstract：:A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of a...

journal_title：European journal of pediatrics

authors： Søvik O,Lie SO,Fluge G,Van Hoof F

更新日期：1980-12-01 00:00:00

abstract：:We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD. ...

journal_title：European journal of pediatrics

authors： Hetzel PG,Glanzmann R,Günthard J,Bruder E,Godi E,Bührer C

更新日期：2007-06-01 00:00:00

abstract：INTRODUCTION:Hypothermia at birth is strongly associated with mortality and morbidity in pre-term infants. BACKGROUND:A local audit showed limited effectiveness of occlusive wrapping in preventing admission hypothermia in very pre-term infants. Self-heating acetate gel mattresses were introduced as a result to prevent...

journal_title：European journal of pediatrics

authors： Ibrahim CP,Yoxall CW

更新日期：2010-07-01 00:00:00

abstract：:The daily excretion of C-peptide in the urine was measured in 105 healthy infants and children from birth to 14 years of age. For technical reasons no studies were performed from 1-3 years of age. The excretion of C-peptide showed a close positive correlation with age and weight. The relationship with weight was alrea...

journal_title：European journal of pediatrics

authors： Gács G,Jakabfi P,Zubovich L

更新日期：1985-01-01 00:00:00