Hypercalcaemia in cerebellar medulloblastoma: pathogenesis of solid tumour-associated hypercalcaemia.

abstract：:The present study was done to evaluate the effect of short-term dietary therapy on 148 dyslipidaemic children (24 familial hypercholesterolaemia, 105 non-familial hypercholesterolaemia and 19 hypertriglyceridaemia), detected by mass screening in children at 18 months of age. In the model diet used for treatment, 15% o...

journal_title：European journal of pediatrics

authors： Ohta T,Nakamura R,Ikeda Y,Hattori S,Matsuda I

更新日期：1993-11-01 00:00:00

abstract：:A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. ...

journal_title：European journal of pediatrics

authors： Ishida H,Imai K,Honma K,Tamura S,Imamura T,Ito M,Nonoyama S

更新日期：2012-08-01 00:00:00

abstract：:Physiotherapists, occupational therapists, and speech therapists play a key role in the treatment of children with epilepsy. We performed a survey of therapists' knowledge of and attitudes towards epilepsy in two regions of Germany, the city of Leipzig and the rural district of Zwickau. Therapists of 29/68 (43%) outpa...

journal_title：European journal of pediatrics

authors： Hackel K,Neininger MP,Kiess W,Bertsche T,Bertsche A

更新日期：2019-10-01 00:00:00

abstract：:A developmental approach to the management of sleep disturbances was successful in 85% (44/52) of the children (aged 2-36 months) within 2-6 weeks. No drugs were used. The approach was based on the following two principles: taking into account the characteristics of sleep behavior in infants and young children by sett...

journal_title：European journal of pediatrics

authors： Largo RH,Hunziker UA

更新日期：1984-08-01 00:00:00

abstract：:Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We repo...

journal_title：European journal of pediatrics

authors： Papadopoulos I,Bountouvi E,Attilakos A,Gole E,Dinopoulos A,Peppa M,Nikolaidou P,Papadopoulou A

更新日期：2019-03-01 00:00:00

abstract：:Cough and wheezing are the predominant symptoms of acute bronchitis. Hitherto, the evaluation of respiratory symptoms was limited to subjective methods such as questionnaires. The main objective of this study was to objectively determine the time course of cough and wheezing in children with acute bronchitis. The impa...

journal_title：European journal of pediatrics

authors： Koehler U,Hildebrandt O,Fischer P,Gross V,Sohrabi K,Timmesfeld N,Peter S,Urban C,Steiß JO,Koelsch S,Kerzel S,Weissflog A

更新日期：2019-09-01 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：: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：:Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment...

journal_title：European journal of pediatrics

authors： Vanhaesebrouck P,De Coen K,Defoort P,Vermeersch H,Mortier G,Goossens L,Smets K,Zecic A,Vandaele S,De Baets F

更新日期：2006-10-01 00:00:00

abstract：:We present clinical and biochemical data on a further patient with hyperargininaemia and the results of neurophysiological tests both before and during dietary treatment with an essential amino acid mixture. With normalisation of plasma arginine concentrations, neurological functions improved and brain stem auditory e...

journal_title：European journal of pediatrics

authors： Brockstedt M,Smit LM,de Grauw AJ,van der Klei-van Moorsel JM,Jakobs C

更新日期：1990-02-01 00:00:00

abstract：:Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operati...

journal_title：European journal of pediatrics

authors： Kuhnle U,Bullinger M,Schwarz HP

更新日期：1995-09-01 00:00:00

abstract：:Male pseudohermaphroditism (MPH) is defined as incomplete masculinization in patients with normal male karyotype (XY) and testicular histology. MPH encompasses a spectrum of female to male phenotypes and presents both diagnostic and technical challenges to the surgeon. Once gender is assigned, based on phenotype, adeq...

journal_title：European journal of pediatrics

authors： Packer MG

更新日期：1993-01-01 00:00:00

abstract：:Although tobacco use has decreased in the general population in recent years, smoking remains high among subpopulations. This study examined whether sexual identity is associated with cigarette smoking and e-cigarette use among high school students. Data were drawn from the US Youth Risk Behavior Surveillance System (...

journal_title：European journal of pediatrics

authors： Azagba S,Latham K,Shan L

更新日期：2019-09-01 00:00:00

abstract：:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...

journal_title：European journal of pediatrics

authors： Danks DM

更新日期：1991-01-01 00:00:00

abstract：UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

journal_title：European journal of pediatrics

authors： Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

更新日期：2001-11-01 00:00:00

abstract：:An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...

journal_title：European journal of pediatrics

authors： Fuhrmann W,Fuhrmann-Rieger A,de Sousa F

更新日期：1980-03-01 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：: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：:Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis w...

journal_title：European journal of pediatrics

authors： Janka GE

更新日期：1983-06-01 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：:Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient wa...

journal_title：European journal of pediatrics

authors： Dalgic B,Egritas O

更新日期：2011-10-01 00:00:00

abstract：:An adolescent girl with severe thrombotic thrombocytopenic purpura (TTP) remained in a critical condition after 3 weeks of combined treatment with antiplatelet drugs, plasma infusions and plasma exchange. The introduction of vincristine resulted in gradual improvement and eventual complete remission which lasted for 2...

journal_title：European journal of pediatrics

authors： Van Gool S,Brock P,Van Laer P,Van Damme-Lombaerts R,Proesmans W,Casteels-Van Daele M

更新日期：1994-07-01 00:00:00

abstract：:The performance of two triggering systems was compared during patient triggered ventilation (PTV) of infants ventilator-dependent beyond 10 days of age. Ten infants were studied who had a median gestational age of 26.5 weeks and a postnatal age of 15.5 days. PTV was administered via the SLE ventilator and the two trig...

journal_title：European journal of pediatrics

authors： Chan V,Greenough A

更新日期：1992-11-01 00:00:00

abstract：:We have investigated four patients from three unrelated families with typical clinical and biochemical features of "late-onset" multiple carboxylase deficiency. All patients suffered from biotinidase deficiency (plasma biotinidase activities 1.4%-3% of normal). Intestinal absorption of biotin, measured in three of the...

journal_title：European journal of pediatrics

authors： Suormala T,Wick H,Bonjour JP,Baumgartner ER

更新日期：1985-05-01 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：:Retrospective analysis was performed at an affiliated university children's hospital with consecutive patients receiving a venoarterial extracorporeal membrane oxygenation (VA-ECMO) for refractory cardiogenic shock from July 2007 to May 2018. Fifty-six patients underwent VA-ECMO for refractory cardiogenic shock with t...

journal_title：European journal of pediatrics

authors： Yang L,Ye L,Fan Y,He W,Zong Q,Zhao W,Lin R

更新日期：2019-06-01 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：:A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-fil...

journal_title：European journal of pediatrics

authors： Fois A,Balestri P,Calvieri S,Zampetti M,Giustini S,Stefanini M,Lagomarsini P

更新日期：1988-05-01 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：:A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase...

journal_title：European journal of pediatrics

authors： García-Consuegra J,Padrón M,Jaureguizar E,Carrascosa C,Ramos J

更新日期：1990-04-01 00:00:00