Brugada syndrome in childhood: a potential fatal arrhythmia not always recognised by paediatricians. A case report and review of the literature.

abstract：UNLABELLED:Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) ...

journal_title：European journal of pediatrics

authors： Kay DM,Maloney B,Hamel R,Pearce M,DeMartino L,McMahon R,McGrath E,Krein L,Vogel B,Saavedra-Matiz CA,Caggana M,Tavakoli NP

更新日期：2016-02-01 00:00:00

abstract：UNLABELLED:Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth w...

journal_title：European journal of pediatrics

authors： Baumgartner MR,Rabier D,Nassogne MC,Dufier JL,Padovani JP,Kamoun P,Valle D,Saudubray JM

更新日期：2005-01-01 00:00:00

abstract：:Screening for coeliac disease (CD) with serum antigliadin antibodies (AGA) was performed in 1032 diabetic children and adolescents. In 8 children CD had been diagnosed before study entry. Of the remaining 1024 children, 33 had an elevated AGA titre in the first serum sample. On follow-up an elevated AGA titre was conf...

journal_title：European journal of pediatrics

authors： Koletzko S,Bürgin-Wolff A,Koletzko B,Knapp M,Burger W,Grüneklee D,Herz G,Ruch W,Thon A,Wendel U

更新日期：1988-11-01 00:00:00

abstract：:The fatty acid status of an unselected group of 84 Congolese children was determined by estimating the fatty acid composition of the plasma phospholipid (PL) and cholesterolester (CE) fractions using capillary gas chromatography. In comparison with North American and European children a wide range of values and low me...

journal_title：European journal of pediatrics

authors： Leichsenring M,Doehring-Schwerdtfeger E,Laryea MD,Diamouangana J,Bremer HJ

更新日期：1988-11-01 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：:Despite rapidly evolving knowledge about COVID 19 infection, routes of perinatal COVID 19 transmission and viral load in mother neonate dyad remain uncertain. Data were analysed to describe the clinicodemographic profile and viral load in neonates born to COVID 19 positive mothers. Of 2947 deliveries, 69 mothers were ...

journal_title：European journal of pediatrics

authors： Anand P,Yadav A,Debata P,Bachani S,Gupta N,Gera R

更新日期：2021-02-01 00:00:00

abstract：:The objective of this study was to investigate the clinical applicability of pulse oximetry to measure haemoglobin oxygen saturation and heart rate in the first 20 min of life and to analyse the effect of pre- or post-ductal (hand, respectively, foot) fixation of sensors on oxygen saturation. Measurements were carried...

journal_title：European journal of pediatrics

authors： Meier-Stauss P,Bucher HU,Hürlimann R,König V,Huch R

更新日期：1990-09-01 00:00:00

abstract：UNLABELLED:Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant lat...

journal_title：European journal of pediatrics

authors： de Bruyn G,Casaer A,Devolder K,Van Acker G,Logghe H,Devriendt K,Cornette L

更新日期：2012-03-01 00:00:00

abstract：:A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days ...

journal_title：European journal of pediatrics

authors： Ohtake A,Takayanagi M,Ogura N,Nakajima H

更新日期：1983-10-01 00:00:00

abstract：:Histochemical and immunohistochemical studies performed in only a few cases of sinus histiocytosis with massive lymphoadenopathy (SHML) indicated that SHML cells belong to the macrophage--histiocyte system, though their exact origin is still uncertain. We analyzed the morphological, antigenic and enzymatic characteris...

journal_title：European journal of pediatrics

authors： Paulli M,Locatelli F,Kindl S,Boveri E,Facchetti F,Porta F,Rosso R,Nespoli L,Magrini U

更新日期：1992-09-01 00:00:00

abstract：:Six patients are described with a combination of early onset of neurological symptoms, gross cerebral changes and elevated concentrations of pyruvate and lactate in cerebrospinal fluid. Although at least five of the six patients appear to have a generalised defect in pyruvate metabolism, reflected in deficient pyruvat...

journal_title：European journal of pediatrics

authors： Brown GK,Haan EA,Kirby DM,Scholem RD,Wraith JE,Rogers JG,Danks DM

更新日期：1988-01-01 00:00:00

abstract：INTRODUCTION:Randomly estimated fasting hyperglycaemia in an asymptomatic individual may represent the first sign of pancreatic beta-cell dysfunction. OBJECTIVE:We aimed at specifying the genetic aetiology of asymptomatic hyperglycaemia in a cohort of children and adolescents. SUBJECTS AND METHODS:We analysed the aet...

journal_title：European journal of pediatrics

authors： Feigerlová E,Pruhová S,Dittertová L,Lebl J,Pinterová D,Kolostová K,Cerná M,Pedersen O,Hansen T

更新日期：2006-07-01 00:00:00

abstract：:The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. We report on 7 patients with very late diagnosed severe hypopituitarism...

journal_title：European journal of pediatrics

authors： Boros E,Casimir M,Heinrichs C,Brachet C

更新日期：2020-01-01 00:00:00

abstract：:In 166 full term, small-for-gestational-age (FT-SGA), 53 preterm, appropriate-for-gestational-age (PT-AGA), 27 PT-SGA and 206 FT-AGA infants a neurological examination at the age of 6 years was carried out. Data were collected on behaviour and school achievement. Major and minor neurological abnormalities were more fr...

journal_title：European journal of pediatrics

authors： Hadders-Algra M,Huisjes HJ,Touwen BC

更新日期：1988-06-01 00:00:00

abstract：UNLABELLED:Coagulase-negative staphylococci are the most common cause of late-onset sepsis in premature neonates. The optimal approach in persistent coagulase-negative staphylococcal bacteremia, despite adequate treatment with glycopeptides, is not well established. A retrospective study was conducted on preterm neonat...

journal_title：European journal of pediatrics

authors： Rodriguez-Guerineau L,Salvia-Roigés MD,León-Lozano M,Rodríguez-Miguélez JM,Figueras-Aloy J

更新日期：2013-05-01 00:00:00

abstract：UNLABELLED:Neutrophils are an essential component of the human host defence system against infection. Recombinant human granulocyte colony-stimulating factor induces neutrophilia and enhances effector functions of mature neutrophils. Since the biological effects of granulocyte colony-stimulating factor (G-CSF) are medi...

journal_title：European journal of pediatrics

authors： Gessler P,Neu S,Nebe T,Speer CP

更新日期：1999-06-01 00:00:00

abstract：:Forty newborns with severe shock and disseminated intravascular coagulation were randomized for treatment with heparin or placebo. Mortality was equal in both groups. The heparin group required significantly shorter periods of artificial ventilation. The coagulation system improved faster, and the coagulation pattern ...

journal_title：European journal of pediatrics

authors： Göbel U,von Voss H,Jürgens H,Petrich C,Pothmann R,Sprock I,Lemburg P

更新日期：1980-01-01 00:00:00

abstract：:Understanding which children are at increased risk for poor outcome with COVID-19 is critical. In this study, we link pediatric population-based data from the US Center for Disease Control and Prevention to COVID-19 hospitalization and in-hospital death. In 27,045 US children with confirmed COVID-19, we demonstrate th...

journal_title：European journal of pediatrics

authors： Moreira A,Chorath K,Rajasekaran K,Burmeister F,Ahmed M,Moreira A

更新日期：2021-01-20 00:00:00

abstract：:The laryngo-tracheo-oesophageal cleft is marked by a missing anatomical separation of the oesophagus and the larynx. The cleft can be restricted to the dorsal part of the larynx (type I), extend to the upper area of the trachea (type II) or involve the whole of the trachea (type III). In reviewing our three cases and ...

journal_title：European journal of pediatrics

authors： Roth B,Rose KG,Benz-Bohm G,Günther H

更新日期：1983-03-01 00:00:00

abstract：:The case history of a 10-year-old boy with chronic granulomatous disease (CGD) and gastric obstruction is presented. First abdominal symptoms occurred at 4 years of age when antral narrowing was detected. Due to unresponsiveness to antibiotic and steroid treatment, salazosulfapyridine therapy was initiated. Objective ...

journal_title：European journal of pediatrics

authors： Stopyrowa J,Fyderek K,Sikorska B,Kowalczyk D,Zembala M

更新日期：1989-10-01 00:00:00

abstract：:Infantile hepatic hemangioma is the most common benign liver tumor during infancy. Prompt diagnosis and timely institution of therapy are of utmost importance. Magnetic resonance imaging (MRI) plays a key role in the correct diagnosis and monitoring of treatment. We report on a 15-week-old girl with multifocal infanti...

journal_title：European journal of pediatrics

authors： Bosemani T,Puttgen KB,Huisman TA,Tekes A

更新日期：2012-07-01 00:00:00

abstract：:The internet is an integral tool for information, communication, and entertainment among adolescents. As adolescents devote increasing amounts of time to utilizing the internet, the risk for adopting excessive and pathological internet use is inherent. The study objectives include assessing the characteristics and pre...

journal_title：European journal of pediatrics

authors： Tsitsika A,Critselis E,Kormas G,Filippopoulou A,Tounissidou D,Freskou A,Spiliopoulou T,Louizou A,Konstantoulaki E,Kafetzis D

更新日期：2009-06-01 00:00:00

abstract：:Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised. ...

journal_title：European journal of pediatrics

authors： Hansen LK,Wulff K,Dorche C,Christensen E

更新日期：1993-08-01 00:00:00

abstract：UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...

journal_title：European journal of pediatrics

authors： Cohen Engler A,Hadash A,Shehadeh N,Pillar G

更新日期：2012-04-01 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：:Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any f...

journal_title：European journal of pediatrics

authors： Humbert M,Labrune P,Simonneau G

更新日期：2002-10-01 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:Fibronectin (a glycoprotein which modulates inflammation) may decrease mortality in systemic infection. Children with meningococcal disease (MCD) may have low fibronectin levels. We aimed to compare plasma fibronectin levels in children with MCD and controls, correlate fibronectin levels with interleukin-6 (...

journal_title：European journal of pediatrics

authors： Riordan FA,Bestwick K,Thomson AP,Sills JA,Hart CA

更新日期：1997-06-01 00:00:00

abstract：:High food quality, together with adequate macro- and micronutrient intake in pregnancy, is crucial for the health status of the mother and child. Recent findings suggest that it could also be beneficial or harmful in the context of the well-being of the whole future population. According to the developmental origins o...

journal_title：European journal of pediatrics

authors： Danielewicz H,Myszczyszyn G,Dębińska A,Myszkal A,Boznański A,Hirnle L

更新日期：2017-12-01 00:00:00

abstract：UNLABELLED:Disseminated atypical mycobacterium infection is essentially reported in cellular immunodeficient children. Cell-mediated immunity including cytokines like tumour necrosis factor alpha (TNF) and gamma interferon (IFN) is the most important factor allowing control of the dissemination of Mycobacterium. We rep...

journal_title：European journal of pediatrics

authors： Tuerlinckx D,Vermylen C,Brichard B,Ninane J,Cornu G

更新日期：1997-03-01 00:00:00