Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.

abstract：UNLABELLED:The aim was to assess the incidence of complications related to skin-to-skin contact (SSC) in newborns with an umbilical venous catheter (UVC). We carried out a prospective follow-up study of all UVCs in a level 3 unit where SSC is systematic. A total of 333 babies were included (mean gestational age of 31.3...

journal_title：European journal of pediatrics

authors： Catherine ZG,Béatrice P,Fabrice L,Claire H,Alain D

更新日期：2016-04-01 00:00:00

abstract：:Palivizumab utilization, compliance, and outcomes were examined in infants with preexisting medical diseases within the Canadian Registry Database (CARESS) to aid in developing guidelines for potential "at-risk" infants in the future. Infants who received ≥1 dose of palivizumab during the 2006-2010 respiratory syncyti...

journal_title：European journal of pediatrics

authors： Paes B,Mitchell I,Li A,Lanctôt KL

更新日期：2012-05-01 00:00:00

abstract：UNLABELLED:This study assessed health-related quality of life (HRQoL) reported by overweight adolescents and compared to their parent-proxy perception of HRQoL, according to adolescent gender, adolescent age, and parent gender. Patients and a total of 179 adolescents aged 10 to 18 years with excess weight were evaluate...

journal_title：European journal of pediatrics

authors： Bianchini JA,da Silva DF,Nardo CC,Carolino ID,Hernandes F,Nardo N Jr

更新日期：2013-10-01 00:00:00

abstract：:Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diag...

journal_title：European journal of pediatrics

authors： Aytekin C,Dogu F,Tanir G,Guloglu D,Santisteban I,Hershfield MS,Ikinciogullari A

更新日期：2010-03-01 00:00:00

abstract：:Tonsillectomy is one of the commonest ENT paediatric procedures. Recovery is best achieved at home, and cost-effectiveness of the day case pathway is significant in tonsillectomy. This project scrutinised the local practice regarding the effectiveness of day case pathway in paediatric tonsillectomy in a large regional...

journal_title：European journal of pediatrics

authors： Atfeh MS,Richardson-May J,Rainsbury J

更新日期：2018-11-01 00:00:00

abstract：:The conclusions of this mini-workshop are not substantially different from those previously published based on the USA experience [9]. This does not necessarily mean that there are no important differences between Europe and the USA, rather it reflects the paucity of data, especially in Europe. Moreover, European data...

journal_title：European journal of pediatrics

authors： Jebb SA,Lambert J

更新日期：2000-09-01 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：UNLABELLED:Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CC...

journal_title：European journal of pediatrics

authors： Morava E,Kárteszi J,Weisenbach J,Caliebe A,Mundlos S,Méhes K

更新日期：2002-11-01 00:00:00

abstract：:Co-trimoxazole is an effective antibacterial agent for the prophylaxis of urinary tract infection. Because experimental evidence raises the possibility that high-dose cotrimoxazole might interfere with normal somatic growth, the longitudinal growth and growth velocities were analysed in 114 girls receiving long-term, ...

journal_title：European journal of pediatrics

authors： Smellie JM,Preece MA,Paton AM

更新日期：1983-09-01 00:00:00

abstract：:Serum immunoglobulin levels and naturally occurring antibody titres against Streptococcus pneumoniae were measured in seven children aged 1-1.9 years with recurrent pneumococcal acute otitis media (AOM). Three of them had low IgG2 levels. Mean antibody levels of anti-pneumococcal IgG1 and anti-pneumococcal IgG2 were s...

journal_title：European journal of pediatrics

authors： Ishizaka A,Sakiyama Y,Otsu M,Ozutsumi K,Matsumoto S

更新日期：1994-03-01 00:00:00

abstract：:We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...

journal_title：European journal of pediatrics

authors： Royce PM,Steinmann B,Vogel A,Steinhorst U,Kohlschuetter A

更新日期：1990-04-01 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：:Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the scree...

journal_title：European journal of pediatrics

authors： Mathias D,Bickel H

更新日期：1985-07-01 00:00:00

abstract：:No previous studies have focused on postoperative fat malabsorption in children with choledochal cyst (CC) who undergo cyst excision and Roux-en-Y (RY) hepatico-jejunostomy (HJ), a combination of procedures that can lead to the non-physiological mixture of food and bile juice. To examine the effect of RYHJ with cholec...

journal_title：European journal of pediatrics

authors： Suzuki M,Tanaka K,Ohtani K,Kitamura K,Kudo T,Shoji H,Suzuki R,Shimizu T

更新日期：2009-01-01 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：: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：:Infiltration of the stomach wall by air, first described by Fraenkel in 1889 [3], is a very rare condition. We describe the first reported case of gastric pneumatosis occurring in a child with complex congenital heart disease after cardiac surgery. ...

journal_title：European journal of pediatrics

authors： Taylor DR,Tung JY,Baffa JM,Shaffer SE,Blecker U

更新日期：2000-07-01 00:00:00

abstract：:Vitamin D is important for calcium homeostasis, muscle, and bone health. It has also immunomodulatory capacities in vivo and in vitro. Regulatory T cells (Treg) have been found to suppress a number of T cell-mediated immune disorders, including allergic responses and autoimmune diseases. This study aimed to investigat...

journal_title：European journal of pediatrics

authors： Güven A,Ecevit A,Sözer O,Tarcan A,Tarcan A,Ozbek N

更新日期：2012-08-01 00:00:00

abstract：UNLABELLED:To study the developmental effects of prenatal exposure to opiates, a prospective follow up study of 34 drug-exposed (opiates and nicotine) and 42 reference infants (nicotine exposure only) was conducted from January 1992 to September 1995. At the time of delivery, 12 of 34 mothers used opiates without medic...

journal_title：European journal of pediatrics

authors： Bunikowski R,Grimmer I,Heiser A,Metze B,Schäfer A,Obladen M

更新日期：1998-09-01 00:00:00

abstract：UNLABELLED:The pathogenesis of sporadic hemiplegic migraine remains unclear, and perfusion-weighted magnetic resonance imaging (PWI) has been used for characterization of hemodynamic changes in migraine aura. We report a case of sporadic hemiplegic migraine in which magnetic resonance perfusion imaging showed left cere...

journal_title：European journal of pediatrics

authors： Kim S,Kang M,Choi S

更新日期：2016-02-01 00:00:00

abstract：UNLABELLED:The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a het...

journal_title：European journal of pediatrics

authors： Papagrigorakis MJ,Synodinos PN,Daliouris CP,Metaxotou C

更新日期：2003-09-01 00:00:00

abstract：:Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealin...

journal_title：European journal of pediatrics

authors： Moreira-Silva H,Maio I,Bandeira A,Gomes-Martins E,Santos-Silva E

更新日期：2019-04-01 00:00:00

abstract：UNLABELLED:Early recognition by newborn screening and oral biotin supplementation may prevent clinical and neurological deficits in profound biotinidase deficiency (residual plasma biotinidase activity <10%). In order to evaluate possible correlations of molecular characteristics, onset and continuation of treatment an...

journal_title：European journal of pediatrics

authors： Möslinger D,Mühl A,Suormala T,Baumgartner R,Stöckler-Ipsiroglu S

更新日期：2003-12-01 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：:All 270 patients presenting with Henoch-Schönlein Purpura over a 13-year period from a total childhood population of 155,000 were studied. This is an incidence of 13.5/100,000 children per year. Fifty-five (20%) were found to have initial evidence of renal involvement, and were re-examined at a mean of 8.3 years later...

journal_title：European journal of pediatrics

authors： Stewart M,Savage JM,Bell B,McCord B

更新日期：1988-02-01 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：UNLABELLED:High-flow nasal cannula (HFNC) is a widely used ventilatory support in children with bronchiolitis in the intensive care setting. No data is available on HFNC use in the general pediatric ward. The aim of this study was to evaluate the feasibility of HFNC oxygen therapy in infants hospitalized in a pediatric...

journal_title：European journal of pediatrics

authors： Bressan S,Balzani M,Krauss B,Pettenazzo A,Zanconato S,Baraldi E

更新日期：2013-12-01 00:00:00

abstract：UNLABELLED:Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxand...

journal_title：European journal of pediatrics

authors： Schmitt K,Häusler G,Blümel P,Plöchl E,Waldhör T,Frisch H

更新日期：1997-02-01 00:00:00

abstract：:Cardiac function is impaired in adults or children with hypothyroidism and it can be reversed by levothyroxine (L-T(4)) substitution therapy. However, only a few studies are available on left and right ventricular function in neonates with congenital hypothyroidism (CH), most of which were performed with standard echo...

journal_title：European journal of pediatrics

authors： Mao S,Wang Y,Jiang G,Zhao Z

更新日期：2007-12-01 00:00:00

abstract：:The New Vaccinations of Infants in Practice online survey in seven countries evaluated vaccination-related attitudes and concerns of parents of infants and health care providers (HCPs) who provide pediatric medical care. The survey showed that HCPs and parents were open to adding new vaccines to the immunization sched...

journal_title：European journal of pediatrics

authors： Bakhache P,Rodrigo C,Davie S,Ahuja A,Sudovar B,Crudup T,Rose M

更新日期：2013-04-01 00:00:00