Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?

abstract：:Severe hand, foot, and mouth disease (HFMD) is likely to develop critical complications such as brainstem encephalitis, acute pulmonary edema, and circulatory failure, which cause child mortality during outbreaks. This study aims to investigate factors that predict the severity of HFMD. One hundred sixteen in-patient ...

journal_title：European journal of pediatrics

authors： Li Y,Dang S,Deng H,Wang W,Jia X,Gao N,Li M,Wang J

更新日期：2013-05-01 00:00:00

abstract：:This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...

journal_title：European journal of pediatrics

authors： Coknaz D,Mirzeoglu AD,Atasoy HI,Alkoy S,Coknaz H,Goral K

更新日期：2019-10-01 00:00:00

abstract：:Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-mont...

journal_title：European journal of pediatrics

authors： McGovern M,Reyani Z,O'Connor P,White M,Miletin J

更新日期：2016-12-01 00:00:00

abstract：:Forty-five children (25 girls; 20 boys) with meningomyelocele (MMC) were assessed for growth, skeletal maturation and pubertal development. The spinal defects were operated on shortly after birth and all children required cerebral drainage for hydrocephalus. Standard deviation scores for height, sitting height, sub-is...

journal_title：European journal of pediatrics

authors： Greene SA,Frank M,Zachmann M,Prader A

更新日期：1985-07-01 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：:Chest radiographs from children with community-acquired pneumonia (CAP) were categorized into three distinct presentations and each presentation was correlated to clinical and laboratory findings. Children < 59 months with CAP presenting to pediatric emergency rooms during two years were enrolled prospectively in eigh...

journal_title：European journal of pediatrics

authors： Falup-Pecurariu OG,Diez-Domingo J,Esposito S,Finn A,Rodrigues F,Spoulou V,Syrogiannopoulos GA,Usonis V,Greenberg D,CAP-PRI.

更新日期：2018-07-01 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：UNLABELLED:Patients diagnosed with intracranial teratoma are at risk for developing a recurrent malignant germ cell tumor. We describe a 14-year-old boy initially diagnosed with a mature teratoma in the pineal region that recurred as a metastatic beta-human chorionic gonadotropin (βHCG)-secreting germ cell tumor 3 year...

journal_title：European journal of pediatrics

authors： Cardellicchio S,Farina S,Buccoliero AM,Agresti B,Genitori L,de Martino M,Fangusaro J,Sardi I

更新日期：2014-08-01 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：: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：:The topography and morphology of the lacrimal ducts in newborn infants was demonstrated by means of post mortem dacryocystograms and microphotograms of histologic slides. Because of bends in the course of the lower tear duct, a percentage of probings will fail to effect satisfactory perforation of the Hasner membrane....

journal_title：European journal of pediatrics

authors： Müller KM,Busse H,Osmers F

更新日期：1978-09-08 00:00:00

abstract：:Haemodynamic assessment during the transitional period in preterm infants is challenging. We aimed to describe the relationships between cerebral regional tissue oxygen saturation (CrSO2), perfusion index (PI), echocardiographic, and clinical parameters in extremely preterm infants in their first 72 h of life. Twenty ...

journal_title：European journal of pediatrics

authors： Janaillac M,Beausoleil TP,Barrington KJ,Raboisson MJ,Karam O,Dehaes M,Lapointe A

更新日期：2018-04-01 00:00:00

abstract：UNLABELLED:Monitoring fat free mass (FFM), an indicator of nutritional status and a predictor of exercise performance in children, is particularly important in patients with cystic fibrosis (CF). We assessed validity of the skinfold method for measuring FFM, and its changes with exercise training, in children with CF. ...

journal_title：European journal of pediatrics

authors： de Meer K,Gulmans VA,Westerterp KR,Houwen RH,Berger R

更新日期：1999-10-01 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：UNLABELLED:The treatment of blunt splenic injuries (BSI) has undergone a significant shift away from an operative approach to a conservative treatment regimen in the last decades. Data concerning long-term follow-up of children sustaining BSI are largely confined to telephone surveys. Children treated with BSI over a 3...

journal_title：European journal of pediatrics

authors： Singer G,Rieder S,Eberl R,Wegmann H,Hoellwarth ME

更新日期：2013-09-01 00:00:00

abstract：:We report on a youngster followed by his paediatrician from birth until 14 years of age for premature beats, most likely of ventricular origin. The sudden death of his sister provoked a re-assessment of his electrocardiograms (ECG), resulting in the diagnosis of Brugada syndrome and the subsequent implantation of a ca...

journal_title：European journal of pediatrics

authors： Mivelaz Y,Di Bernardo S,Pruvot E,Meijboom EJ,Sekarski N

更新日期：2006-08-01 00:00:00

abstract：UNLABELLED:Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive r...

journal_title：European journal of pediatrics

authors： Wiesmann UN,Suormala T,Pfenninger J,Baumgartner ER

更新日期：1998-03-01 00:00:00

abstract：:Children's feet are complex structures and strategies for supporting good foot health throughout childhood can be challenging. Greater awareness of the contemporary factors influencing decisions, such as footwear purchases, is needed to inform health narratives which are more closely aligned to parents' attitude and b...

journal_title：European journal of pediatrics

authors： Hodgson L,Hodges M,Williams AE,Nester CJ,Morrison SC

更新日期：2021-01-15 00:00:00

abstract：:Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Mente...

journal_title：European journal of pediatrics

authors： Abe K,Okano M,Sasaki H

更新日期：1980-10-01 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：: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

abstract：:Neonatal acute respiratory distress syndrome (NARDS) reflects pulmonary surfactant dysfunction, and the usage of bovine surfactant (Calsurf) supplement may therefore be beneficial. To determine whether bovine surfactant given in NARDS can improve oxygenation and survival rate, we conducted a multicenter, randomized tr...

journal_title：European journal of pediatrics

authors： Rong Z,Mo L,Pan R,Zhu X,Cheng H,Li M,Yan L,Lang Y,Zhu X,Chen L,Xia S,Han J,Chang L

更新日期：2020-10-21 00:00:00

abstract：:Gradenigo's syndrome (GS) is a rare disease characterised by the triad otitis media, pain in the region innervated by the first and the second division of trigeminal nerve and abducens nerve palsy. Septic sinus thrombosis is one of the most frequent and relevant complication of GS; it is often due to persistent damage...

journal_title：European journal of pediatrics

authors： Scardapane A,Del Torto M,Nozzi M,Elio C,Breda L,Chiarelli F

更新日期：2010-04-01 00:00:00

abstract：:The aim of this retrospective study was to investigate the clinical characteristics and therapeutic outcomes of pulmonary arterial hypertension (PAH) secondary to congenital portosystemic shunts (CPSS). Thirty-three pediatric patients diagnosed in our institution with CPSS between 2012 and 2019 were enrolled in this s...

journal_title：European journal of pediatrics

authors： Wu J,Lu Y,Zhao W,Shen J,Li F,Zhang H,Chen Q,Fu L

更新日期：2020-10-03 00:00:00

abstract：:Congenital syphilis is now rare in Australia, particularly in suburban areas. The disease is both preventable and treatable, however, missed or late diagnosis can lead to catastrophic effects. We report an infant who developed congenital syphilis after multiple opportunities for preventing this condition were missed. ...

journal_title：European journal of pediatrics

authors： Hargrove A,Curtis N

更新日期：2006-05-01 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：: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：:Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...

journal_title：European journal of pediatrics

authors： Leung AK,Hoo JJ

更新日期：1986-02-01 00:00:00

abstract：:Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactat...

journal_title：European journal of pediatrics

authors： Aynsley-Green A,Weindling AM,Soltész G,Jenkins PA

更新日期：1983-12-01 00:00:00

abstract：:Mid-aortic syndrome is characterized by narrowing of the abdominal aorta, usually with the involvement of renal arteries and other visceral branches. The combination of the presence of an abdominal bruit, diminished or absent pulsations of the lower extremities, and a blood pressure discrepancy between upper and lower...

journal_title：European journal of pediatrics

authors： ten Dam K,van der Palen RL,Tanke RB,Schreuder MF,de Jong H

更新日期：2013-03-01 00:00:00