New insights into lipid and fatty acid metabolism via stable isotopes.

abstract：:A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data...

journal_title：European journal of pediatrics

authors： Wudy SA,Homoki J,Teller WM

更新日期：1994-08-01 00:00:00

abstract：:Premature newborns are particularly vulnerable to iatrogenic hypothyroidism due to iodine exposure, usually through skin absorption of iodine-containing disinfectants or intravenous administration of iodinated contrast agents. We report here a case of severe iatrogenic hypothyroidism with goiter and cholestasis, disco...

journal_title：European journal of pediatrics

authors： Lombard F,Dalla-Vale F,Veyrac C,Plan O,Cambonie G,Picaud JC

更新日期：2009-04-01 00:00:00

abstract：:Serum lysozyme activity was measured in samples from children with acute leukemia, malignant tumours, and in normal children. All children with acute lymphatic leukemia (ALL) had significantly reduced levels of lysozyme at diagnosis, and none of the children fell within the normal range. Children with ALL in complete ...

journal_title：European journal of pediatrics

authors： Bratlid D,Moe PJ

更新日期：1978-04-20 00:00:00

abstract：:Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalizations in children aged < 2 years. The aim of this retrospective, single-centre study was to examine the characteristics of patients admitted to a paediatric intensive care unit (PICU) with RSV infection followin...

journal_title：European journal of pediatrics

authors： Butt ML,Symington A,Janes M,Elliott L,Steele S,Paes BA

更新日期：2011-07-01 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：:Protein C deficiency can lead to cerebrovascular occlusive disease. We describe a patient in whom heterozygous protein C deficiency (type 1) is suspected on the grounds of reduced protein C activity and who suffered from multiple thrombo-embolic events involving the brain and peripheral organs. The patient developed h...

journal_title：European journal of pediatrics

authors： Schmitt S,Auberger K,Fendel T,Kiess W

更新日期：1992-06-01 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：:Despite the sudden and often alarming clinical manifestations of ITP, few patients in the pediatric age group develop serious complications or long-term sequellae. Conservative therapy, without use of pharmacologic or surgical intervention, is the most convenient, safe, and cost-effective approach in the vast majority...

journal_title：European journal of pediatrics

authors： Buchanan GR

更新日期：1987-03-01 00:00:00

abstract：UNLABELLED:Sepsis is the major cause of morbidity and mortality in children, especially in immunocompromised patients, and a rapid identification of causative pathogen is strongly related with a better outcome. This prospective study analyzes the role of a multiplex real-time polymerase chain reaction in sepsis' etiolo...

journal_title：European journal of pediatrics

authors： Denina M,Scolfaro C,Colombo S,Calitri C,Garazzino S,Barbui Anna A,Brossa S,Regina Margherita Children’s Hospital Bloodstream Infections Study Group participants.,Tovo PA

更新日期：2016-08-01 00:00:00

abstract：:A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years. ...

journal_title：European journal of pediatrics

authors： Beekman RP,Hofstee N,Smeitink JA,Poll-The BT,Duran M

更新日期：1994-04-01 00:00:00

abstract：:WHO-Europe's goal is to eliminate measles and rubella by 2010 which will require a coverage rate of 95% for both MMR-vaccine doses. Belgian recommendations include a first MMR vaccine at 12 months and a second at 10-12 years of age. To survey MMR vaccination coverage, EPI two-stage random cluster samples of 1,500 todd...

journal_title：European journal of pediatrics

authors： Vandermeulen C,Roelants M,Theeten H,Van Damme P,Hoppenbrouwers K

更新日期：2008-10-01 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：:Two patients with chronic granulomatous disease who had previously been intolerant to trimethoprim-sulfamethoxazole because of various adverse reactions completed a desensitisation protocol with a favourable clinical outcome. ...

journal_title：European journal of pediatrics

authors： Hasui M,Kotera F,Tsuji S,Yamamoto A,Taniuchi S,Fujikawa Y,Nakajima M,Yoshioka A,Kobayashi Y

更新日期：2002-06-01 00:00:00

abstract：:Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arg...

journal_title：European journal of pediatrics

authors： Superti-Furga A,Eich G,Bucher HU,Wisser J,Giedion A,Gitzelmann R,Steinmann B

更新日期：1995-03-01 00:00:00

abstract：:Since traction-associated hypertension seems to be a relatively unknown phenomenon, a survey was done of its incidence in children treated with skeletal traction for fractures and orthopaedic diseases. The correlation with hypercalcaemia, a possible aetiological factor, was also explored. Blood pressure was recorded t...

journal_title：European journal of pediatrics

authors： Heij HA,Ekkelkamp S,Vos A

更新日期：1992-07-01 00:00:00

abstract：:A technetium-99m pertechnetate Meckel scan is the standard diagnostic test to diagnose Meckel diverticulum. Although a negative scan does not exclude Meckel diverticulum, it should be kept in mind that the diagnosis can be missed on the basis of a single negative scan. Another important point is the typical position o...

journal_title：European journal of pediatrics

authors： El-Matary W,Roseman D,Lees G,Maguire C

更新日期：2009-12-01 00:00:00

abstract：:Inflammatory bowel disease (IBD) is a cause of chronic intestinal inflammation in children. In a subset of patients affected by IBD, arthropathy may be the leading presenting sign. In the past years, remarkable advances in gastrointestinal endoscopy techniques have been achieved; recently, the development of capsule e...

journal_title：European journal of pediatrics

authors： Taddio A,Simonini G,Lionetti P,Lepore L,Martelossi S,Ventura A,Cimaz R

更新日期：2011-10-01 00:00:00

abstract：:Cardiac imaging has had significant influence on the science and practice of pediatric cardiology. Especially the development and improvements made in non-invasive imaging techniques, like echocardiography and cardiac magnetic resonance imaging (MRI), have been extremely important. Technical advancements in the field ...

journal_title：European journal of pediatrics

authors： Mertens L,Ganame J,Eyskens B

更新日期：2008-01-01 00:00:00

abstract：UNLABELLED:Aminoglycoside prescriptions were rarely evaluated in children care facilities. Because of risk of toxicity, these narrow spectrum antibiotics are commonly misused. In this study, we evaluate aminoglycoside prescription and assess the impact of an information campaign on modalities of prescription and monito...

journal_title：European journal of pediatrics

authors： Houot M,Pilmis B,Thepot-Seegers V,Suard C,Potier C,Postaire M,Zahar JR

更新日期：2016-05-01 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：:Septo-optic dysplasia (SOD) is a heterogeneous brain midline anomaly associated with ophthalmological, endocrinological, and/or neurodevelopmental symptoms. The clinical phenotype correlates with abnormal brain magnetic resonance imaging (MRI) findings. However, variations of the septum pellucidum (SP) appearance and ...

journal_title：European journal of pediatrics

authors： Riedl S,Vosahlo J,Battelino T,Stirn-Kranjc B,Brugger PC,Prayer D,Müllner-Eidenböck A,Kapelari K,Blümel P,Waldhör T,Krasny J,Lebl J,Frisch H

更新日期：2008-11-01 00:00:00

abstract：:Children affected with acute myocarditis may progress rapidly into profound ventricular dysfunction and ventricular arrhythmias. The objective of this study is to assess the impact of ventricular arrhythmias on in-hospital mortality and the use of mechanical circulatory support in patients with myocarditis. Pediatric ...

journal_title：European journal of pediatrics

authors： Othman HF,Byrnes J,Elsamny E,Hamzah M

更新日期：2020-11-01 00:00:00

abstract：UNLABELLED:The true burden of influenza in children is difficult to assess and is probably underestimated as clinical signs are usually nonspecific, and formal viral identification is rarely searched. In this study, we compare the clinical features of infections related to the new H1N1/09 influenza virus with infection...

journal_title：European journal of pediatrics

authors： Crisinel PA,Barazzone C,Kaiser L,L'Huillier AG,Taguebue J,Wagner N,Delcò C,Siegrist CA,Posfay-Barbe KM,H1N1 Pediatric Epidemiology Study Group.

更新日期：2012-01-01 00:00:00

abstract：UNLABELLED:This study was conducted to determine if clinical features can predict the risk of intracranial injury (ICI) in pediatric closed head trauma. We enrolled 3,806 children under 16 years consecutively referred for acute closed head trauma to the paediatric emergency room of five Italian children's hospitals. Re...

journal_title：European journal of pediatrics

authors： Da Dalt L,Marchi AG,Laudizi L,Crichiutti G,Messi G,Pavanello L,Valent F,Barbone F

更新日期：2006-03-01 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：: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

abstract：UNLABELLED:In acute-phase Kawasaki disease, neutrophils cause injury to the coronary arterial endothelium through the production of elastase. Previous research has demonstrated the modulation of neutrophil function and kinetics, such as development and maturation, by granulocyte colony-stimulating factor (G-CSF). To ex...

journal_title：European journal of pediatrics

authors： Samada K,Igarashi H,Shiraishi H,Hatake K,Momoi MY

更新日期：2002-10-01 00:00:00

abstract：UNLABELLED:Breast milk samples from three groups of Brazilian women were evaluated for their inhibitory effect on enteropathogenic Escherichia coli (EPEC) adhesion to HEp-2 cells: G1, mothers delivering preterm babies of appropriate birth weight (n = 12); G2, mothers delivering term babies of low birth weight (n = 11);...

journal_title：European journal of pediatrics

authors： Delneri MT,Carbonare SB,Silva ML,Palmeira P,Carneiro-Sampaio MM

更新日期：1997-06-01 00:00:00

abstract：UNLABELLED:In very low birth weight (VLBW) infants, colloid infusion is associated with impaired perinatal lung function and increased oxygen dependency duration. The aim of this study was to determine whether perinatal colloid infusion was associated with abnormal neurodevelopmental outcome. All perinatal fluid input ...

journal_title：European journal of pediatrics

authors： Greenough A,Cheeseman P,Kavvadia V,Dimitriou G,Morton M

更新日期：2002-06-01 00:00:00

abstract：:Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear po...

journal_title：European journal of pediatrics

authors： Kurnaz E,Duminuco P,Aycan Z,Savaş-Erdeve Ş,Muratoğlu Şahin N,Keskin M,Bayramoğlu E,Bonomi M,Çetinkaya S

更新日期：2018-03-01 00:00:00