Errors of morphogenesis and inborn errors of immunity 20 years after the discovery of DiGeorge anomaly.

abstract：:In recent years, a more stable AVP surrogate, called copeptin, has been used as an adjuvant diagnostic tool for dysnatremia in adults and appears to be promising even in the pediatric age. The aim of this study is to present the distribution of plasma copeptin in a large pediatric cohort and to observe the influence o...

journal_title：European journal of pediatrics

authors： Tuli G,Munarin J,Tessaris D,Einaudi S,Matarazzo P,de Sanctis L

更新日期：2021-01-01 00:00:00

abstract：:Sedentary behavior contributes to increased atherosclerotic risk in adults. Whether or not this can be extended to pediatric populations is unclear. This systematic review assessed associations of sedentary behavior with large artery structure and function in pediatric populations. MEDLINE, EMBASE, CENTRAL, and Web of...

journal_title：European journal of pediatrics

authors： Königstein K,Klenk C,Appenzeller-Herzog C,Hinrichs T,Schmidt-Trucksäss A

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:The severity of childhood gastroenteritis is generally believed to be age-related rather than aetiology-related. Rotavirus-induced gastroenteritis is more severe than gastroenteritis caused by other enteric pathogens and is also age-related. We thus addressed the question of whether the increased severity of...

journal_title：European journal of pediatrics

authors： Albano F,Bruzzese E,Bella A,Cascio A,Titone L,Arista S,Izzi G,Virdis R,Pecco P,Principi N,Fontana M,Guarino A

更新日期：2007-03-01 00:00:00

abstract：:Our prior studies of the molecular epidemiology of group A streptococcus (GAS) pharyngitis indicated that the most common emm types associated with pediatric pharyngitis in North America were 12, 1, 28, and 4. We previously reported that the proportions of pediatric pharyngitis due to emm types 12 and 4 decreased with...

journal_title：European journal of pediatrics

authors： Jaggi P,Dale JB,Chiang E,Beniwal P,Kabat W,Shulman ST

更新日期：2009-06-01 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：:We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD. ...

journal_title：European journal of pediatrics

authors： Hetzel PG,Glanzmann R,Günthard J,Bruder E,Godi E,Bührer C

更新日期：2007-06-01 00:00:00

abstract：:Serial ultrasound examinations were performed through the anterior fontanelle to detect and follow subependymal pseudocysts (SP) in 19 neonates without severe malformations. A high-resolution real-time sector scanner was employed. In 8 cases the SP involved both lateral ventricles, in 11 cases they were unilateral and...

journal_title：European journal of pediatrics

authors： Zorzi C,Angonese I

更新日期：1989-02-01 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：UNLABELLED:Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessi...

journal_title：European journal of pediatrics

authors： Ozen S

更新日期：2003-07-01 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：UNLABELLED:Concentrations of galactose (Gal) in plasma and galactose metabolites in red blood cells (RBC) were determined in 18 normal neonates and 249 others with hypergalactosaemia according to the Paigen method. Normal neonatal values for plasma Gal, RBC galactose-1-phosphate (Gal-1-P), RBC uridine diphosphate gluco...

journal_title：European journal of pediatrics

authors： Mizoguchi N,Ono H,Eguchi T,Sakura N

更新日期：2000-11-01 00:00:00

abstract：:Effective management of pain remains an important indicator of the quality of care provided to neonates. Since the review of McIntosh in this journal over a decade ago, an extensive number of papers on assessment, prevention, and treatment of pain have been reported. In addition, preclinical insights into neurodevelop...

journal_title：European journal of pediatrics

authors： Allegaert K,Veyckemans F,Tibboel D

更新日期：2009-07-01 00:00:00

abstract：PURPOSE:The study investigated the television watching habits of children in hospital compared with those at home and the factors which influence them. METHODS:A random sample of 546 school aged children hospitalized in paediatric hospitals (2) in Athens (Greece) was studied. RESULTS:Children's television watching ti...

journal_title：European journal of pediatrics

authors： Matziou V,Zachos I,Kletsiou H,Triantafyllidou A,Tsoumakas C

更新日期：2006-11-01 00:00:00

abstract：:This article summarizes some research on the development of motion perception in early infancy. The sensitivity for slow and rapid motion was studied with 1-month-old and 3-month-old babies. The findings suggest that there are different developmental courses for the detection of slow and rapid motion. The ability to d...

journal_title：European journal of pediatrics

authors： Kaufmann F

更新日期：1995-01-01 00:00:00

abstract：:Mucocutaneous bleeding is common in childhood and may be the result of primary hemostatic disorders such as vascular abnormalities, von Willebrand disease, thrombocytopenia, and platelet dysfunction. A detailed bleeding history and physical examination are essential to distinguish between normal and abnormal bleeding ...

journal_title：European journal of pediatrics

authors： van Ommen CH,Peters M

更新日期：2012-01-01 00:00:00

abstract：:This was a retrospective study documenting all pacemaker implantations (PMIs) secondary to postoperative atrioventricular block. A total of 26 patients were included between 2011 and 2020. The incidence rate was 1.8%, with a median follow-up time of 4.5 years. At the time of the initial PMI, the median weight was 5 kg...

journal_title：European journal of pediatrics

authors： Ebrahim MA,Ashkanani HK,Alramzi RS,Malhas ZI,Al-Bahrani M,Sadek AA,Elsayed MA,Lyubomudrov VG

更新日期：2020-12-01 00:00:00

abstract：UNLABELLED:Acid reflux and/or oesophagitis may be responsible for inconsolable crying in infants. We evaluated prospectively the presence of acid reflux disease, oesophagitis and the accuracy of pH monitoring in the prediction of oesophagitis in a population of irritable infants. A 24-h oesophageal pH monitoring with a...

journal_title：European journal of pediatrics

authors： Vandenplas Y,Badriul H,Verghote M,Hauser B,Kaufman L

更新日期：2004-06-01 00:00:00

abstract：:Obese individuals are prone to vitamin D deficiency because of sequestration of vitamin D in their body fat. We planned to evaluate the rise in serum 25(OH)D levels in vitamin D-deficient obese vs normal body mass index(BMI) children, after administration of identical single dose of vitamin D. Twenty-two obese and 22 ...

journal_title：European journal of pediatrics

authors： Tayde A,Mittal M,Khadgawat R,Sharma S,Sreenivas V,Rai A

更新日期：2020-10-12 00:00:00

abstract：:A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardi...

journal_title：European journal of pediatrics

authors： Filtenborg JA

更新日期：1982-07-01 00:00:00

abstract：UNLABELLED:Dynamic processes are of great interest in the study of lipid and fatty acid metabolism. Their in vivo investigation is now possible with the use of stable isotope tracers and the available sensitive analytical technology. We present some examples demonstrating the assessment of lipid oxidation as well as mo...

journal_title：European journal of pediatrics

authors： Demmelmair H,Sauerwald T,Koletzko B,Richter T

更新日期：1997-08-01 00:00:00

abstract：UNLABELLED:The aim of this study was to provide growth and sexual maturation reference data for Turkish children living in The Netherlands. We also compared these references with the reference data of children of Dutch origin and with Turkish reference data collected in Turkey and elsewhere in Europe. Cross-sectional g...

journal_title：European journal of pediatrics

authors： Fredriks AM,van Buuren S,Jeurissen SE,Dekker FW,Verloove-Vanhorick SP,Wit JM

更新日期：2003-11-01 00:00:00

abstract：:IgG subclass levels were determined in 448 normal children from 6 months to 18 years of age and in 141 healthy adults by radial immunodiffusion using monoclonal antibodies. Age-normal percentile values were calculated for each year of age up to 18 years for IgG1, IgG2, IgG3 and in adults for all four subclasses. The b...

journal_title：European journal of pediatrics

authors： Plebani A,Ugazio AG,Avanzini MA,Massimi P,Zonta L,Monafo V,Burgio GR

更新日期：1989-12-01 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:The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characterist...

journal_title：European journal of pediatrics

authors： Adachi M,Tachibana K,Masuno M,Makita Y,Maesaka H,Okada T,Hizukuri K,Imaizumi K,Kuroki Y,Kurahashi H,Suwa S

更新日期：1998-01-01 00:00:00

abstract：INTRODUCTION:IgE-dependent activation of mast cells and basophils through the high-affinity IgE receptor (Fc(epsilon)R1) is involved in the pathogenesis of allergen-induced immune responsiveness in atopic disease including bronchial asthma. MATERIALS AND METHODS:We genotyped 650 children for allelic determinants at tw...

journal_title：European journal of pediatrics

authors： Kim ES,Kim SH,Kim KW,Park HS,Shin ES,Lee JE,Sohn MH,Kim KE

更新日期：2009-12-01 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：: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：:Recent studies revealed that fluid overload is associated with higher mortality in critically ill children and adults. This study aimed to evaluate the association between fluid overload in the first 3 days of life and mortality in extremely low birth weight infants. This single-center retrospective cohort study inclu...

journal_title：European journal of pediatrics

authors： Matsushita FY,Krebs VLJ,Ferraro AA,de Carvalho WB

更新日期：2020-11-01 00:00:00

abstract：:Proper nutrition throughout childhood and adolescence is crucial for normal bone development. We investigated whether adherence to Christian Orthodox Church fasting is characterized by periodic avoidance of animal foods (including dairy products), since childhood affects stature or bone health in young adults. This cr...

journal_title：European journal of pediatrics

authors： Rodopaios NE,Mougios V,Koulouri AA,Vasara E,Papadopoulou SK,Skepastianos P,Dermitzakis E,Hassapidou M,Kafatos AG

更新日期：2020-04-01 00:00:00

abstract：:A case of neonatal suppurative parotitis due to Klebsiella pneumoniae is described. This is the first case reported in the last 20 years. Infection with unusual microorganisms should be taken into account when planning antibiotic treatment, especially in hospital acquired infections of the salivary glands in the newbo...

journal_title：European journal of pediatrics

authors： Coban A,Ince Z,Uçsel R,Ozgeneci A,Can G

更新日期：1993-12-01 00:00:00