A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

abstract：UNLABELLED:Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%-75% of affected adults, according to the population studied, and from those report...

journal_title：European journal of pediatrics

authors： Lee PJ

更新日期：2002-10-01 00:00:00

abstract：:Two patients developed clinical features of intracranial bleeding--which were confirmed by computerized axial tomograms--during their induction therapy for acute lymphocytic leukemia. Coagulation studies showed clotting abnormalities including severe hypofibrinogenemia. These findings most probably were related to the...

journal_title：European journal of pediatrics

authors： Urban C,Sager WD

更新日期：1981-11-01 00:00:00

abstract：UNLABELLED:Over the past decade, concerns about bullying and its effects on school health have grown. However, few studies in Turkey have examined the prevalence of bullying in childhood and adolescence and its association with health problems. The current study aimed to examine the prevalence and manifestation of bull...

journal_title：European journal of pediatrics

authors： Arslan S,Hallett V,Akkas E,Akkas OA

更新日期：2012-10-01 00:00:00

abstract：:Despite advancement in medical care, Rh alloimmunisation remains a major cause of neonatal hyperbilirubinaemia, neuro-morbidity, and late-onset anaemia. Delayed cord clamping (DCC), a standard care now-a-days, is yet not performed in Rh-alloimmunised infants due to paucity of evidence. Hence, we randomised these infan...

journal_title：European journal of pediatrics

authors： Sahoo T,Thukral A,Sankar MJ,Gupta SK,Agarwal R,Deorari AK,Paul VK

更新日期：2020-06-01 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：:Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...

journal_title：European journal of pediatrics

authors： Hennekam RC,Barth PG,Van Lookeren Campagne W,De Visser M,Dingemans KP

更新日期：1991-07-01 00:00:00

abstract：:Staphylococcus saprophyticus commonly causes urinary tract infection (UTI) in young women; in males it is found mainly in the elderly. In this study S. saprophyticus UTI occurred in 59 children (45 girls and 14 boys) below 16 years of age, of whom 20 were less than 13 years of age. The common presentation was dysuria ...

journal_title：European journal of pediatrics

authors： Abrahamsson K,Hansson S,Jodal U,Lincoln K

更新日期：1993-01-01 00:00:00

abstract：UNLABELLED:The aim of this study was to assess the physical performance in long-term survivors of acute leukaemia in childhood and to evaluate the effects of anthracycline therapy. Electrocardiography, echocardiography and spiroergometry were carried out on 56 patients aged 9-28 years, of whom 44 patients had been trea...

journal_title：European journal of pediatrics

authors： Black P,Gutjahr P,Stopfkuchen H

更新日期：1998-06-01 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：:We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficien...

journal_title：European journal of pediatrics

authors： Ozbay Hosnut F,Ozcay F,Selda Bayrakci U,Avci Z,Ozbek N

更新日期：2008-12-01 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：: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：UNLABELLED:We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated ...

journal_title：European journal of pediatrics

authors： Doi T,Abo W,Tateno M,Hayashi K,Hori T,Nakada T,Fukao T,Takahashi Y,Terada N

更新日期：2000-12-01 00:00:00

abstract：:Term born infants are predisposed to human rhinovirus (HRV) lower respiratory tract infections (LRTI) by reduced neonatal lung function and genetic susceptibility. Our aim was to investigate whether prematurely born infants were similarly predisposed to HRV LRTIs or any other viral LRTIs. Infants born less than 36 wee...

journal_title：European journal of pediatrics

authors： Drysdale SB,Alcazar M,Wilson T,Smith M,Zuckerman M,Hodemaekers HM,Janssen R,Bont L,Johnston SL,Greenough A

更新日期：2016-12-01 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：:As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and gamma-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young ...

journal_title：European journal of pediatrics

authors： Tazawa Y,Yamada M,Nakagawa M,Tada K,Konno T,Ohi R,Kasai M

更新日期：1986-04-01 00:00:00

abstract：:A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical r...

journal_title：European journal of pediatrics

authors： Hommes FA

更新日期：1994-01-01 00:00:00

abstract：UNLABELLED:Cystic fibrosis is a life shortening hereditary disease, primarily leading to progressive pulmonary infection and exocrine pancreatic dysfunction. Several gastrointestinal complications other than malabsorption can arise during the disease course and with the progressively increasing life span of patients wi...

journal_title：European journal of pediatrics

authors： Demeyer S,De Boeck K,Witters P,Cosaert K

更新日期：2016-07-01 00:00:00

abstract：UNLABELLED:We investigated the histological and molecular characteristics of pulmonary alveolar proteinosis (PAP) in two siblings (a brother and sister) who did not exhibit respiratory distress at birth but who each developed symptoms during infancy. Histological analysis of lung specimens showed positive staining for ...

journal_title：European journal of pediatrics

authors： Sakai Y,Abo W,Yoshimura H,Sano H,Kuroki Y,Satoh M,Kaimori M

更新日期：1999-05-01 00:00:00

abstract：:Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance--the major distressing factor in...

journal_title：European journal of pediatrics

authors： Rocha R,Vitor AB,Trindade E,Lima R,Tavares M,Lopes J,Dias JA

更新日期：2011-11-01 00:00:00

abstract：UNLABELLED:The severity and duration of immunosuppression caused by corticosteroids (CSs) usage have not been extensively studied. We aimed to investigate the effects of CSs on the various compartments of immune system in relation to timing of initiation and persistence of therapy. Pediatric patients with idiopathic ne...

journal_title：European journal of pediatrics

authors： Baris HE,Baris S,Karakoc-Aydiner E,Gokce I,Yildiz N,Cicekkoku D,Ogulur I,Ozen A,Alpay H,Barlan I

更新日期：2016-05-01 00:00:00

abstract：:There is evidence pointing to a decrease of the glomerular filtration rate (GFR) in a subgroup of nephrotic children, likely secondary to hypovolemia. The aim of this study is to validate the use of urinary potassium to the sum of potassium plus sodium ratio (UK/UK+UNa) as an indicator of hypovolemia in nephrotic synd...

journal_title：European journal of pediatrics

authors： Keenswijk W,Ilias MI,Raes A,Donckerwolcke R,Walle JV

更新日期：2018-01-01 00:00:00

abstract：:Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retr...

journal_title：European journal of pediatrics

authors： Vallet C,Escudier E,Roudot-Thoraval F,Blanchon S,Fauroux B,Beydon N,Boulé M,Vojtek AM,Amselem S,Clément A,Tamalet A

更新日期：2013-08-01 00:00:00

abstract：:To find out whether cytomegalovirus (CMV) infection during the first months of life influences child development, developmental assessment at the age of 2 years was performed on 116 Finnish children chosen at random in a maternity hospital and followed from birth for the occurrence of CMV infection. Two of the childre...

journal_title：European journal of pediatrics

authors： Granström ML

更新日期：1979-01-01 00:00:00

abstract：:Severe complications due to Shigatoxin-associated hemolytic uremic syndrome (STEC-HUS) currently present a serious challenge since no specific treatment for this condition is available. Eculizumab, a terminal complement inhibitor, has been used especially in STEC-HUS patients with severe neurological involvement, but ...

journal_title：European journal of pediatrics

authors： Keenswijk W,Raes A,Vande Walle J

更新日期：2018-03-01 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：:The etiology of asthma includes lifestyle factors. Breastfeeding and introduction of complementary foods have been suggested to affect asthma risk, but the scientific foundation is not solid. Children from the birth cohort All Babies In Southeast Sweden study were included (n = 9727). Breastfeeding duration and timing...

journal_title：European journal of pediatrics

authors： Klingberg S,Brekke HK,Ludvigsson J

更新日期：2019-03-01 00:00:00

abstract：:We have previously shown that breast-fed infants have a considerably larger thymus at 4 months than formula-fed infants. The aim of the present study was to investigate whether breast-feeding also influences the thymic size in late infancy. In a cohort of 50 infants, all being partially breast-fed when recruited at 8 ...

journal_title：European journal of pediatrics

authors： Hasselbalch H,Engelmann MD,Ersboll AK,Jeppesen DL,Fleischer-Michaelsen K

更新日期：1999-12-01 00:00:00

abstract：:A 4-month-old infant was admitted to the Pediatric Intensive Care Unit with Pneumococcal meningitis. A few hours after admission he developed intractable convulsions that could not be stopped with phenytoin, phenobarbitone and a continuous drip of diazepam. Thiopentone sodium anaesthesia was induced for 24 h terminati...

journal_title：European journal of pediatrics

authors： Goitein KJ,Mussaffi H,Melamed E

更新日期：1983-04-01 00:00:00

abstract：:This systematic review and meta-analysis assessed the effects of early fortification (EF) versus late fortification (LF) of breast milk (BM) on growth of preterm infants. Randomized and quasi-randomized controlled trials (RCTs) dealing with the effects of EF versus LF on growth parameters, incidence of adverse events,...

journal_title：European journal of pediatrics

authors： Basu S,Upadhyay J,Singh P,Kumar M

更新日期：2020-07-01 00:00:00