Inherited ion channel disorders.

abstract：UNLABELLED:The aim of this study was to develop an index that estimates late childhood obesity risk based on certain perinatal and family sociodemographic characteristics. The study was cross-sectional with retrospectively collected data from a representative sample of 2,294 primary schoolchildren, aged 9-13 years, in ...

journal_title：European journal of pediatrics

authors： Manios Y,Birbilis M,Moschonis G,Birbilis G,Mougios V,Lionis C,Chrousos GP,“Healthy Growth Study” group.

更新日期：2013-04-01 00:00:00

abstract：:This was an uncontrolled, open-label follow up study of a previous 12-month, randomized, double-blind, placebo-controlled trial performed to assess the long-term efficacy and safety of Recombinant Human Interferon Gamma (rIFN-gamma) in patients with chronic granulomatous disease (CGD). In two centres, 28 patients (24 ...

journal_title：European journal of pediatrics

authors： Weening RS,Leitz GJ,Seger RA

更新日期：1995-04-01 00:00:00

abstract：:The development of visual acuity and stereopsis was studied in 321 boys and 340 girls aged between 5 and 10 years. Visual acuity was assessed by the E test and a modified version of the STYCAR test, stereo acuity by the Lang-Stereo test [17]. Both vision tests showed an increase in the median visual acuity between the...

journal_title：European journal of pediatrics

authors： Schmid M,Largo RH

更新日期：1986-12-01 00:00:00

abstract：:The aim of this study was to determine whether macrosomia related to maternal diabetes alters lipoprotein metabolism and whether these abnormalities still persist or regress after 1 month of life. Serum lipoprotein compositions and concentrations as well as serum lipid fatty acid compositions were investigated in macr...

journal_title：European journal of pediatrics

authors： Merzouk H,Madani S,Prost J,Loukidi B,Meghelli-Bouchenak M,Belleville J

更新日期：1999-09-01 00:00:00

abstract：:Urinary tract infection (UTI) is a common cause of sepsis in infants. Premature infants hospitalized at a neonatal intensive care unit often have risk factors for infection. In this group, the risk of UTI is not clearly known, and guidelines for urine analysis are not unanimous. We aimed to identify the risk of UTI in...

journal_title：European journal of pediatrics

authors： Mohseny AB,van Velze V,Steggerda SJ,Smits-Wintjens VEHJ,Bekker V,Lopriore E

更新日期：2018-01-01 00:00:00

abstract：:Rhabdomyolysis induced acute renal failure (ARF) is relatively rare in children. We report an 8-year-old boy with McArdle disease and rhabdomyolysis induced ARF after heavy muscle work. Physical examination revealed generalized tenderness on his extremities. Laboratory examinations showed acute renal failure due to my...

journal_title：European journal of pediatrics

authors： Delibaş A,Bek K,Ezgü FS,Demircin G,Oksal A,Oner A

更新日期：2008-08-01 00:00:00

abstract：:The concentration of mRNA of insulin-like growth factor-II is (IGF-II) much elevated in some embryonic tumours such as Wilms tumour (nephroblastoma). In order to prove whether or not IGF-II is produced by the tumour tissue, IGF-II was extracted from freshly frozen tissue of Wilms tumour and hepatoblastoma. Normal adja...

journal_title：European journal of pediatrics

authors： Ren-Qiu Q,Ruelicke T,Hassam S,Haselbacher GK,Schoenle EJ

更新日期：1993-02-01 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：:Local control of the primary tumour is a fundamental requirement for clinical cure. Towards this aim, the primary tumour must be diagnosed early and identified histologically. The size, extension, and spread within the patient must be defined precisely. In planning effective local therapy, additional questions must be...

journal_title：European journal of pediatrics

authors： Prindull G,Willert HG,Notter G

更新日期：1985-07-01 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：UNLABELLED:Overweight and obesity are major public health issues. Childhood obesity often persists throughout adulthood. Recently a higher prevalence of obesity in adults whose mothers smoked during pregnancy was reported. The aim of this study was to assess whether this association is also detectable in pre-school chi...

journal_title：European journal of pediatrics

authors： Toschke AM,Koletzko B,Slikker W Jr,Hermann M,von Kries R

更新日期：2002-08-01 00:00:00

abstract：UNLABELLED:The aim of this paper was to systematically review the published evidence on the relationship between the type of childcare and risk of childhood overweight or obesity. The databases PubMed, MEDLINE, Cochrane Library and EMBASE were searched using combinations of the various search terms to identify eligible...

journal_title：European journal of pediatrics

authors： Alberdi G,McNamara AE,Lindsay KL,Scully HA,Horan MH,Gibney ER,McAuliffe FM

更新日期：2016-10-01 00:00:00

abstract：:The use of supra-physiological, exogenous corticosteroids in pregnancy may lead to neonatal adrenal suppression. We report on a single-center, case series study carried out between 2006 and 2014, which included all newborns (n = 16) of mothers using prednisolone ≥10 mg/day during pregnancy. Newborns were routinely ass...

journal_title：European journal of pediatrics

authors： de Vetten L,van Stuijvenberg M,Kema IP,Bocca G

更新日期：2017-08-01 00:00:00

abstract：:Blood volume was estimated using 51chromium labelled red cells and 125iodinated human serum albumin in 5 children with sepsis, in 6 burned children and 7 children with acute lymphoblastic leukaemia. Studies of the equilibration pattern demonstrated that the mixing time of labelled red cells was prolonged to 40 minutes...

journal_title：European journal of pediatrics

authors： Linderkamp O,Holthausen H,Seifert J,Butenandt I,Riegel KP

更新日期：1977-06-01 00:00:00

abstract：:Most drugs that are currently prescribed in pediatrics have not been tested in children. Pediatric drug studies are stimulated in the USA by the pediatric exclusivity provision under the Food and Drug Administration Modernization Act (FDAMA) that grants patent extensions when pediatric labeling is provided. We investi...

journal_title：European journal of pediatrics

authors： Boots I,Sukhai RN,Klein RH,Holl RA,Wit JM,Cohen AF,Burggraaf J

更新日期：2007-08-01 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：:Allergic diseases are on the increase and can affect the child's well-being. The aim of this survey was to assess regional schools' preparedness in dealing with anaphylaxis following the publication of national and international guidelines for schools in 2014. The survey was developed in 2015 and distributed to school...

journal_title：European journal of pediatrics

authors： Raptis G,Perez-Botella M,Totterdell R,Gerasimidis K,Michaelis LJ

更新日期：2020-10-01 00:00:00

abstract：UNLABELLED:Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the ...

journal_title：European journal of pediatrics

authors： Bennett LC,Kraemer R,Liechti-Gallati S

更新日期：2000-01-01 00:00:00

abstract：:Lower respiratory tract infections (LRTI) caused by adenovirus can be severe with resultant chronic pulmonary sequelae. More than 50 serotypes have been recognized; however, the exact association of serotype with clinical phenotype is still unclear. There have been no reports on the adenovirus serotype pattern in Hong...

journal_title：European journal of pediatrics

authors： Chau SK,Lee SL,Peiris MJ,Chan KH,Chan E,Wong W,Chiu SS

更新日期：2014-03-01 00:00:00

abstract：LARYNGOSCOPE BURNS IN NEONATAL INTUBATION:Following burns during neonatal intubation, we mounted an in vitro study of laryngoscopes to determine the temperatures reached during clinical use. The temperature of 10 different bulb laryngoscopes heads and two fibre optic heads were measured with a thermocouple, once opened...

journal_title：European journal of pediatrics

authors： Ryan E,O Neill P,Brabazon D,Murphy JFA

更新日期：2019-07-01 00:00:00

abstract：:The number of infants born preterm including extremely premature babies is rising worldwide, particularly in low- and middle-income countries, which challenge neonatologists and milk banks for the provision of the most adequate nutrition for successful infant's growth and development. The benefits of mother's own milk...

journal_title：European journal of pediatrics

authors： Sánchez Luna M,Martin SC,Gómez-de-Orgaz CS

更新日期：2020-11-27 00:00:00

abstract：:Coeliac disease and type 1 diabetes mellitus can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of coeliac disease among Hungarian diabetic children and to study the effect of gluten-free diet on glycaemic control. A total of 205 diabetic...

journal_title：European journal of pediatrics

authors： Arató A,Körner A,Veres G,Dezsöfi A,Ujpál I,Madácsy L

更新日期：2003-01-01 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：:Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...

journal_title：European journal of pediatrics

authors： Oulego-Erroz I,Gautreaux-Minaya S,Martinez-Sáenz de Jubera J,Naranjo-Vivas D,Fernéndez-Hernández S,Muñíz-Fontán M

更新日期：2011-09-01 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：: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：:This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants w...

journal_title：European journal of pediatrics

authors： Strnadová KA,Votava F,Lebl J,Mühl A,Item C,Bodamer OA,Torresani T,Bouska I,Waldhauser F,Sperl W

更新日期：2007-01-01 00:00:00

abstract：:Diarrhea-associated hemolytic uremic syndrome (D+HUS) is a common thrombotic microangiopathy during childhood and early identification of parameters predicting poor outcome could enable timely intervention. This study aims to establish the accuracy of BUN-to-serum creatinine ratio at admission, in addition to other pa...

journal_title：European journal of pediatrics

authors： Keenswijk W,Vanmassenhove J,Raes A,Dhont E,Vande Walle J

更新日期：2017-03-01 00:00:00

abstract：:We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymat...

journal_title：European journal of pediatrics

authors： Saudubray JM,Touati G,Delonlay P,Jouvet P,Narcy C,Laurent J,Rabier D,Kamoun P,Jan D,Revillon Y

更新日期：1999-12-01 00:00:00

abstract：:Two regimens of steroid treatment for the initial attack of idiopathic nephrotic syndrome (NS) in children were compared in a controlled prospective multi-centre study. Long prednisone therapy consisted of 60 mg/m2 per 24 h for 6 weeks, followed by alternate day 40 mg/m2 per 48 h for 6 weeks. The standard prednisone t...

journal_title：European journal of pediatrics

authors： Ehrich JH,Brodehl J

更新日期：1993-04-01 00:00:00