Absence epilepsy of early childhood--genetic aspects.

abstract：:Chlorambucil (CHL) was used in combination with prednisolone in the treatment of nine children with frequently relapsing nephrotic syndrome. Serial electroencephalograms were obtained to evaluate CHL central nervous toxicity, before, during and after treatment with this agent. EEG abnormalities were observed in two of...

journal_title：European journal of pediatrics

authors： Ichida F,Konishi T,Asada R,Yamatani M,Konda M,Tani M,Tanizawa T,Suzuki Y,Okada T,Kyotani S

更新日期：1985-09-01 00:00:00

abstract：:A 4-month-old boy was admitted for having diffuse eruption in the perianal region, legs, trunk hands, and face with failure to thrive, edema, hypoalbuminemia, and anemia. The patient was thought to have acrodermatitis enteropathica-like eruption due to malabsorption. The eruption completely resolved with enzyme supple...

journal_title：European journal of pediatrics

authors： Pekcan S,Kose M,Dogru D,Sekerel B,Atakan N,Ozcelik U,Cobanoglu N,Yalcin E,Kiper N

更新日期：2009-01-01 00:00:00

abstract：:Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy. ...

journal_title：European journal of pediatrics

authors： Hasegawa T,Hasegawa Y,Koto S,Aso T,Tsuchiya Y,Hayashi A,Ishida H,Morikawa Y

更新日期：1993-10-01 00:00:00

abstract：:We examined the long-term outcome in 111 children who had convulsions during shigellosis and were followed for 3-18 years after the incident. No deaths or persistent motor deficits occurred as sequellae. Poor coordination of fine hand movements were noted in 3.3% of the 92 children who had no pre-existing neurological...

journal_title：European journal of pediatrics

authors： Zvulunov A,Lerman M,Ashkenazi S,Weitz R,Nitzan M,Dinari G

更新日期：1990-01-01 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：:CD3+4-8- double negative cells in peripheral blood lymphocytes were examined in 21 severely handicapped children divided into two groups according to serum IgG level. All children were bedridden and were taking multiple anticonvulsants and there were no apparent clinical differences between these two groups. Serum lev...

journal_title：European journal of pediatrics

authors： Kawano Y,Noma T,Yoshizawa I,Maruki K,Yata J

更新日期：1994-12-01 00:00:00

abstract：:Surfactant-associated protein (SP-A) was measured in tracheal aspirates of ventilated infants with (n = 51) and without (n = 21) respiratory distress syndrome (RDS). SP-A concentrations in samples collected after birth were significantly lower in RDS than in infants ventilated for other reasons than RDS (median 0.03 v...

journal_title：European journal of pediatrics

authors： Stevens PA,Schadow B,Bartholain S,Segerer H,Obladen M

更新日期：1992-08-01 00:00:00

abstract：:Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalizations in children aged < 2 years. The aim of this retrospective, single-centre study was to examine the characteristics of patients admitted to a paediatric intensive care unit (PICU) with RSV infection followin...

journal_title：European journal of pediatrics

authors： Butt ML,Symington A,Janes M,Elliott L,Steele S,Paes BA

更新日期：2011-07-01 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：: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：:In recent years, a more stable AVP surrogate, called copeptin, has been used as an adjuvant diagnostic tool for dysnatremia in adults and appears to be promising even in the pediatric age. The aim of this study is to present the distribution of plasma copeptin in a large pediatric cohort and to observe the influence o...

journal_title：European journal of pediatrics

authors： Tuli G,Munarin J,Tessaris D,Einaudi S,Matarazzo P,de Sanctis L

更新日期：2021-01-01 00:00:00

abstract：UNLABELLED:Portal vein thrombosis is a rare but potentially lethal complication in children requiring splenectomy. We report on a 15-year-old boy with a dehydrated hereditary stomatocytosis, who underwent splenectomy and presented a postoperative partial portal vein thrombosis. With prompt heparin therapy, neither prop...

journal_title：European journal of pediatrics

authors： Perel Y,Dhermy D,Carrere A,Chateil JF,Bondonny JM,Micheau M,Barbier R

更新日期：1999-08-01 00:00:00

abstract：:The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autonomic and peripheral neuropathies has more commonly been reported in older individuals. We describe four children (two siblings) with this disorder, aged between 3 and 6 years at di...

journal_title：European journal of pediatrics

authors： Gazarian M,Cowell CT,Bonney M,Grigor WG

更新日期：1995-01-01 00:00:00

abstract：:Obese individuals are prone to vitamin D deficiency because of sequestration of vitamin D in their body fat. We planned to evaluate the rise in serum 25(OH)D levels in vitamin D-deficient obese vs normal body mass index(BMI) children, after administration of identical single dose of vitamin D. Twenty-two obese and 22 ...

journal_title：European journal of pediatrics

authors： Tayde A,Mittal M,Khadgawat R,Sharma S,Sreenivas V,Rai A

更新日期：2020-10-12 00:00:00

abstract：:This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/...

journal_title：European journal of pediatrics

authors： Löwik MM,Groenen PJ,Levtchenko EN,Monnens LA,van den Heuvel LP

更新日期：2009-11-01 00:00:00

abstract：:Primary hyperparathyroidism is a rare endocrine disease in children and young adults. The early detection and treatment of primary hyperparathyroidism led to a marked decrease in classical bone and renal manifestations of the disease. Osteitis fibrosa cystica and brown tumors have become extremely rare clinical entiti...

journal_title：European journal of pediatrics

authors： Atabek ME,Pirgon O,Sert A,Esen HH

更新日期：2008-01-01 00:00:00

abstract：UNLABELLED:The need to reappraise sedation policy is dictated by newer noninvasive imaging modalities. In this study we evaluate the safety and efficacy of rectally-administered thiopental in children undergoing MRI. Eighty-three consecutive patients with congenital heart disease (mean age 2.9 years, SD 2.5) undergoing...

journal_title：European journal of pediatrics

authors： Beekman RP,Hoorntje TM,Beek FJ,Kuijten RH

更新日期：1996-09-01 00:00:00

abstract：BACKGROUND:The tuberculin skin test (TST) is the most useful method for the diagnosis of tuberculosis (TB). There is no evidence about the effect of bacillus Calmette-Guerin (BCG) vaccine on the interpretation of TST results. OBJECTIVE:The aim of this study was to evaluate TST results in a population of immigrants and...

journal_title：European journal of pediatrics

authors： Piñeiro R,Mellado MJ,Cilleruelo MJ,García-Ascaso M,Medina-Claros A,García-Hortelano M

更新日期：2012-11-01 00:00:00

abstract：:Serum immunoreactive erythropoietin (siEPO) was determined in cord serum from neonates (n = 97, gestational age 36-43 weeks), in healthy children from birth to adolescence (n = 260) and in children with haematological (n = 30), renal (n = 10) and congenital heart diseases (n = 70). In healthy children siEPO levels dec...

journal_title：European journal of pediatrics

authors： Eckardt KU,Hartmann W,Vetter U,Pohlandt F,Burghardt R,Kurtz A

更新日期：1990-04-01 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：:Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic...

journal_title：European journal of pediatrics

authors： Thompson GN,Walter JH,Bresson JL,Bonnefont JP,Saudubray JM,Leonard JV,Halliday D

更新日期：1990-03-01 00:00:00

abstract：:A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-c...

journal_title：European journal of pediatrics

authors： Corbeel L,Ceuppens JL,Van den Berghe G,Claeys H,Casteels-Van Daele M

更新日期：1984-11-01 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：:Blood pressure (BP) is variable in children and this could affect BP assessment, but the magnitude of within-visit BP variability (BPV) over consecutive measurements has never been investigated. This study aimed to determine the direction and magnitude of, and factors affecting, within-visit BPV in children and adoles...

journal_title：European journal of pediatrics

authors： Veloudi P,Blizzard CL,Srikanth VK,Schultz MG,Sharman JE

更新日期：2018-02-01 00:00:00

abstract：:Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this ret...

journal_title：European journal of pediatrics

authors： Heiwegen K,van Heijst AF,Daniels-Scharbatke H,van Peperstraten MC,de Blaauw I,Botden SM

更新日期：2020-06-01 00:00:00

abstract：:Total serum LDH activity and isoenzyme distribution were studied in children with neuroblastoma at the time of hospital admission. The total LDH was determined in 26 cases, and 20 (77%) of them showed elevation of its activity. On the other hand, in 9 of these 26 cases, the isoenzyme distribution was determined along ...

journal_title：European journal of pediatrics

authors： Kinumaki H,Takeuchi H,Ohmi K

更新日期：1976-09-01 00:00:00

abstract：:The clinical and biochemical response to 25-hydroxycholecalciferol (25-HCC) and vitamin D3, 150 microgram/day for 20 days has been compared in infants aged 3--18 months with nutritional rickets. The infants were allocated at random to Group I (11 infants) treated with 25HCC and Group II (9 infants) treated with vitami...

journal_title：European journal of pediatrics

authors： Moya M,Beltran J,Colomer J

更新日期：1977-12-30 00:00:00

abstract：:This study assessed the agreement between arterial and venous blood lactate and pH levels in children with sepsis. This retrospective, three-year study involved 60 PICU patients, with data collected from electronic or paper patient records. The inclusion criteria comprised of children (≤17 years old) with sepsis and t...

journal_title：European journal of pediatrics

authors： Samaraweera SA,Gibbons B,Gour A,Sedgwick P

更新日期：2017-08-01 00:00:00

abstract：:A 10-year-old boy with chyluria due to a congenital fistulous communication between the lymphatic system and the bladder is described. Chyluria can be parasitic or non-parasitic. Many causes of non-parasitic chyluria have been reported. Lymphography is the preoperative imaging procedure of choice since it demonstrates...

journal_title：European journal of pediatrics

authors： Stalens JP,Falk M,Howmann-Giles R,Roy LP

更新日期：1992-01-01 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