Congenital self-healing non-Langerhans cell histiocytosis.

abstract：:The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnat...

journal_title：European journal of pediatrics

authors： Schrander-Stumpel C,Meinecke P,Wilson G,Gillessen-Kaesbach G,Tinschert S,König R,Philip N,Rizzo R,Schrander J,Pfeiffer L

更新日期：1994-06-01 00:00:00

abstract：:To investigate the changes in the 1 alpha,25-dihydroxyvitamin D [1,25(OH)2D] level and the role of parathyroid hormone (PTH) and calcitonin (CT) during the early neonatal periods, we measured 1,25(OH)2D, 25-hydroxyvitamin D [25(OH)D], PTH specific for mid-regions (mPTH) and urinary cAMP (UcAMP) to evaluate the renal t...

journal_title：European journal of pediatrics

authors： Nishioka T,Yasuda T,Niimi H,Nakajima H

更新日期：1988-02-01 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：:Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978. ...

journal_title：European journal of pediatrics

authors： Evers-Kiebooms G,Vlietinck R,van den Berghe H

更新日期：1985-03-01 00:00:00

abstract：:The effects of laryngoscopy and tracheal intubation on cerebral and systemic haemodynamics were studied in 30 children. The objective was to identify conditions in which the alterations of cerebral and systemic haemodynamics were minimal. The children were intubated after muscular relaxation and following 10 min of me...

journal_title：European journal of pediatrics

authors： Bode H,Ummenhofer W,Frei F

更新日期：1993-11-01 00:00:00

abstract：:Through a systematic review and meta-analyses, we aimed to determine predictors for place of death among children. We searched online databases for studies published between 2008 and 2019 comprising original quantitative data on predictors for place of death among children. Data regarding study design, population char...

journal_title：European journal of pediatrics

authors： Wolff SL,Christiansen CF,Nielsen MK,Johnsen SP,Schroeder H,Neergaard MA

更新日期：2020-08-01 00:00:00

abstract：:DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, b...

journal_title：European journal of pediatrics

authors： Hasegawa T,Hasegawa Y,Yokoyama T,Koto S,Asamura S,Tsuchiya Y

更新日期：1993-04-01 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：: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：: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：:To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...

journal_title：European journal of pediatrics

authors： Beck D,Maritaz O,Gross N,Favrot M,Vultier N,Bailly C,Villa I,Gentilhomme O,Philip T

更新日期：1988-08-01 00:00:00

abstract：:Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female mo...

journal_title：European journal of pediatrics

authors： Fencl F,Malina M,Stará V,Zieg J,Mixová D,Seeman T,Bláhová K

更新日期：2012-01-01 00:00:00

abstract：:Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-mont...

journal_title：European journal of pediatrics

authors： McGovern M,Reyani Z,O'Connor P,White M,Miletin J

更新日期：2016-12-01 00:00:00

abstract：UNLABELLED:Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multice...

journal_title：European journal of pediatrics

authors： Sträter R,Vielhaber H,Kassenböhmer R,von Kries R,Göbel U,Nowak-Göttl U

更新日期：1999-12-01 00:00:00

abstract：UNLABELLED:Essential fatty acid deficiency is well known in cystic fibrosis patients, but its pathogenesis remains unclear. It might be related to protein-energy malnutrition which is a common feature of cystic fibrosis or to some specific defects in fatty acid metabolism. To avoid the deleterious effects of protein-en...

journal_title：European journal of pediatrics

authors： Roulet M,Frascarolo P,Rappaz I,Pilet M

更新日期：1997-12-01 00:00:00

abstract：:We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...

journal_title：European journal of pediatrics

authors： Gasparoni A,Chirico G,De Amici D,Marconi M,Belloni C,Mingrat G,Rondini G

更新日期：1991-05-01 00:00:00

abstract：:Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactat...

journal_title：European journal of pediatrics

authors： Aynsley-Green A,Weindling AM,Soltész G,Jenkins PA

更新日期：1983-12-01 00:00:00

abstract：:Prolonged emergency department (ED) length of stay (LOS) is used as a proxy for ED overcrowding and is associated with adverse outcomes of patients requiring therapy and reduced patient satisfaction. Our aim was to identify and quantify variables which affect ED-LOS. Patients admitted to the pediatric ED of a large re...

journal_title：European journal of pediatrics

authors： Hofer KD,Saurenmann RK

更新日期：2017-05-01 00:00:00

abstract：UNLABELLED:This prospective clinical case-control study describes the effect of an inpatient multicomponent treatment programme for obese children and adolescents on their weight and psychological well being. We studied 38 patients and 38 controls on the waiting list, matched for age and gender, referred because of obe...

journal_title：European journal of pediatrics

authors： Braet C,Tanghe A,Bode PD,Franckx H,Winckel MV

更新日期：2003-06-01 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：:A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one p...

journal_title：European journal of pediatrics

authors： Versmold HT,Bremer HJ,Herzog V,Siegel G,Bassewitz DB,Irle U,Voss H,Lombeck I,Brauser B

更新日期：1977-03-18 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：:Twin-to-twin transfusion (TTT) is a complication of monochorionic twins that may result in high mortality and morbidity. To better understand pathophysiology in TTT and the consequences for affected fetuses and neonates, we describe the clinical features of 19 consecutive pregnancies complicated by TTT over 5 years. T...

journal_title：European journal of pediatrics

authors： Chiang MC,Lien R,Chao AS,Chou YH,En Chen YJ

更新日期：2003-02-01 00:00:00

abstract：:Children affected with acute myocarditis may progress rapidly into profound ventricular dysfunction and ventricular arrhythmias. The objective of this study is to assess the impact of ventricular arrhythmias on in-hospital mortality and the use of mechanical circulatory support in patients with myocarditis. Pediatric ...

journal_title：European journal of pediatrics

authors： Othman HF,Byrnes J,Elsamny E,Hamzah M

更新日期：2020-11-01 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：:Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arg...

journal_title：European journal of pediatrics

authors： Superti-Furga A,Eich G,Bucher HU,Wisser J,Giedion A,Gitzelmann R,Steinmann B

更新日期：1995-03-01 00:00:00

abstract：:Spontaneous pneumomediastinum is uncommon in paediatric practice. We describe two cases of spontaneous pneumomediastinum in a child and an adolescent with anorexia nervosa. Thorough investigation failed to reveal any underlying cause for secondary pneumomediastinum. Pneumomediastinum in anorexia nervosa can be caused ...

journal_title：European journal of pediatrics

authors： van Veelen I,Hogeman PH,van Elburg A,Nielsen-Abbring FW,Heggelman BG,Mahieu HF

更新日期：2008-02-01 00:00:00

abstract：UNLABELLED:Nemaline myopathy, one of the most benign myopathies in older children and adults, may be rarely associated with early death in the neonate. The authors report two cases, describing the ante- and postnatal clinical courses. Family history may help in establishing the diagnosis, but this was not the case in t...

journal_title：European journal of pediatrics

authors： Vendittelli F,Manciet-Labarchède C,Gilbert-Dussardier B

更新日期：1996-06-01 00:00:00

abstract：:Breath tests (BT) using stable isotopically labelled substrates seem to fulfill all the demands and desires for a non-invasive investigation. There are no radiation hazards, substrates are given in tracer amounts perorally, breath and urine samples can be collected easily, and tests can be done repeatedly, thus easily...

journal_title：European journal of pediatrics

authors： Rating D,Langhans CD

更新日期：1997-08-01 00:00:00

abstract：UNLABELLED:Aim of our study was to evaluate Doppler renal blood flow velocity in asphyxiated neonates and to correlate renal function to Doppler findings. Doppler renal blood flow velocity was evaluated in 23 severely asphyxiated neonates born at a gestational age > 32 weeks and compared to our standard Doppler data ob...

journal_title：European journal of pediatrics

authors： Luciano R,Gallini F,Romagnoli C,Papacci P,Tortorolo G

更新日期：1998-08-01 00:00:00