Flow cytometric immunophenotyping in the diagnosis and follow-up of immunodeficient children.

abstract：UNLABELLED:In a national prospective study of risk factors for mother-to-child transmission of human immunodeficiency virus (HIV), 316 children of HIV-positive mothers were followed up for at least 6 months. Infection status was determined in 254 of them and 46 were found to be infected giving a transmission rate of 18...

journal_title：European journal of pediatrics

authors： Kind C

更新日期：1995-07-01 00:00:00

abstract：UNLABELLED:We studied the clinical and biochemical factors associated with surfactant dysfunction and factors affecting the responsiveness to exogenous surfactant among 27 neonates with haemorrhagic pulmonary oedema (HPE). HPE was defined as the presence of a large amount of blood-stained lung effluent and respiratory ...

journal_title：European journal of pediatrics

authors： Amizuka T,Shimizu H,Niida Y,Ogawa Y

更新日期：2003-10-01 00:00:00

abstract：:Failure to thrive, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia were the most frequent clinical disease presentations in eight children with combined oxidative phosphorylation enzyme complex deficiencies carrying mutations in the polymerase gamma (POLG1) g...

journal_title：European journal of pediatrics

authors： de Vries MC,Rodenburg RJ,Morava E,van Kaauwen EP,ter Laak H,Mullaart RA,Snoeck IN,van Hasselt PM,Harding P,van den Heuvel LP,Smeitink JA

更新日期：2007-03-01 00:00:00

abstract：UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...

journal_title：European journal of pediatrics

authors： Ohta T,Nishiyama S,Nakamura T,Saku K,Maung KK,Matsuda I

更新日期：1998-04-01 00:00:00

abstract：:Four months after termination of successful chemotherapy for epipharyngeal B-non-Hodgkin lymphoma, an enlarging anterior mediastinal mass was discovered in a 15-year-old boy. There was no other suspicion of tumour recurrence. A simple thymic rebound was likely and a conservative management was chosen. Follow up for mo...

journal_title：European journal of pediatrics

authors： Leibundgut K,Willi U,Plüss HJ

更新日期：1992-02-01 00:00:00

abstract：UNLABELLED:Two years after an accident resulting in either a mild head injury or a fractured bone, two groups of 22 children each, aged 4-14 years, were examined for the existence of any neurobehavioural symptoms by means of a standardized questionnaire filled out by their caretakers. Selection of the children was base...

journal_title：European journal of pediatrics

authors： Overweg-Plandsoen WC,Kodde A,van Straaten M,van der Linden EA,Neyens LG,Aldenkamp AP,Vermeulen M

更新日期：1999-03-01 00:00:00

abstract：UNLABELLED:We correlated arachidonic acid (AA) and docosahexaenoic acid (DHA) status with anthropometric measures and growth rates in a group of low birth weight infants (< or = 2500 g; gestational ages 30-41 weeks; n = 143). AA and DHA status were measured in erythrocytes (RBC) and plasma cholesterol esters (CE) durin...

journal_title：European journal of pediatrics

authors： Woltil HA,van Beusekom CM,Schaafsma A,Muskiet FA,Okken A

更新日期：1998-02-01 00:00:00

abstract：:Three sibs with an inherited form of male pseudohermaphroditism are described. They were all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was made during childhood. First seen at the ages of 16, 14 and 10 years respectively, they were investigated in order to establish the pathog...

journal_title：European journal of pediatrics

authors： Ivarsson SA,Nielsen MD,Lindberg T

更新日期：1988-06-01 00:00:00

abstract：:The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...

journal_title：European journal of pediatrics

authors： Burström Å,Bratt EL,Frenckner B,Nisell M,Hanséus K,Rydberg A,Öjmyr-Joelsson M

更新日期：2017-07-01 00:00:00

abstract：:A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. ...

journal_title：European journal of pediatrics

authors： Ishida H,Imai K,Honma K,Tamura S,Imamura T,Ito M,Nonoyama S

更新日期：2012-08-01 00:00:00

abstract：UNLABELLED:We describe the case of a 6-year-old girl brought to the emergency department for the sudden onset of anticholinergic syndrome after the ingestion of a few home-made partially debittered lupine beans. She complained of blurry vision, headache, photophobia and nausea. No specific treatment was needed, and the...

journal_title：European journal of pediatrics

authors： Daverio M,Cavicchiolo ME,Grotto P,Lonati D,Cananzi M,Da Dalt L

更新日期：2014-12-01 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：UNLABELLED:A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonad...

journal_title：European journal of pediatrics

authors： Morel Y,Rey R,Teinturier C,Nicolino M,Michel-Calemard L,Mowszowicz I,Jaubert F,Fellous M,Chaussain JL,Chatelain P,David M,Nihoul-Fékété C,Forest MG,Josso N

更新日期：2002-01-01 00:00:00

abstract：:Using a randomized double blind study design, the bronchodilating effect of 200 micrograms inhaled oxitropium bromide (OB) was compared with 200 micrograms inhaled fenoterol (F) after an interval of 20 min, in 20 asthmatic children aged 12.7 years (range: 4.9-15.1 years), suffering from mild bronchoconstriction (mean ...

journal_title：European journal of pediatrics

authors： Van Bever HP,Desager KN,Pauwels JH,Vermeire PA

更新日期：1994-08-01 00:00:00

abstract：UNLABELLED:Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrom...

journal_title：European journal of pediatrics

authors： Okamoto T,Tajima T,Hirayama T,Sasaki S

更新日期：2012-02-01 00:00:00

abstract：INTRODUCTION:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. CASE REPORT:We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in M...

journal_title：European journal of pediatrics

authors： Busche A,Hennermann JB,Bürger F,Proquitté H,Dierks T,von Arnim-Baas A,Horn D

更新日期：2009-08-01 00:00:00

abstract：UNLABELLED:Sublingual immunotherapy (SLIT) is the only therapeutic option for allergic rhinitis (AR) that modifies the immunological process to an allergen, rather than treating symptoms simply. However, its regulatory mechanisms are largely unknown. B-cell-activating factor of the TNF family (BAFF) plays very importan...

journal_title：European journal of pediatrics

authors： Luo R,Liu W,Wang J,Chen Y,Sun C,Zhou L,Li Y,Deng L

更新日期：2014-08-01 00:00:00

abstract：:A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable in extent, a basic pattern of neuropathological lesions is discernible. Case 1 shows gross cerebral atrophy, cases 2 and 3 milder lesions in the basal nuclei but also multiple cerebellar het...

journal_title：European journal of pediatrics

authors： Harding BN,Leonard JV,Erdohazi M

更新日期：1984-02-01 00:00:00

abstract：:Exchange transfusion using a peripheral artery and vein was carried out 18 times in 17 newborn infants. The arteries use to withdraw blood were the radial [13], the ulnar [3] an the posterior tibial [2]. Infusion of blood was carried out simultaneously through a peripheral vein. There was no mortality or morbidity dir...

journal_title：European journal of pediatrics

authors： Sagi E,Eyal F,Armon Y,Arad I,Robinson M

更新日期：1981-11-01 00:00:00

abstract：UNLABELLED:The effect of different feeding regimens, notably the use of hydrolysed cow's milk formulas, on the development of allergic reactions and the development of cow's milk protein-IgG antibodies is still disputed. We prospectively compared the development of allergic manifestations and cow's milk protein-IgG ant...

journal_title：European journal of pediatrics

authors： Keller KM,Bürgin-Wolff A,Lippold R,Wirth S,Lentze MJ

更新日期：1996-04-01 00:00:00

abstract：:An autosomal dominant hereditary bone dysplasia was observed in three members of a Sardinian family living in Germany--the father and two sons. The guiding clinical symptom is thickening of the wrist proximal to the styloid process of the ulna. The radiologically recognizable changes--non-calcified cartilaginous islan...

journal_title：European journal of pediatrics

authors： Rosenberg E,Löhr H

更新日期：1986-04-01 00:00:00

abstract：UNLABELLED:To investigate the toxic effect of tobacco smoke on the fetus, we measured in cord blood the concentrations of alpha-fetoprotein (AFP), the principal serum protein in early ontogenic development, and erythropoietin (EPO), as an index of chronic fetal hypoxia. A total of 103 consecutively enrolled term newbor...

journal_title：European journal of pediatrics

authors： Beratis NG,Varvarigou A,Christophidou M,Vassilakos P,Tsapanos V,Kourounis G

更新日期：1999-07-01 00:00:00

abstract：UNLABELLED:Self-medication is a common event. To use drugs correctly, a basic knowledge about drugs is required. Poor data are available about adults' drug knowledge. Furthermore, adolescents' basic drug knowledge has not been investigated. This study was designed in order to explore adolescents' drug use and knowledge...

journal_title：European journal of pediatrics

authors： Stoelben S,Krappweis J,Rössler G,Kirch W

更新日期：2000-08-01 00:00:00

abstract：:So far, a recognizable pattern of clinical symptoms for child sexual abuse (CSA), especially in young male children, is lacking. To improve early recognition of CSA, we reviewed physical complaints, physical examination, and tests on sexually transmitted infections (STIs) in confirmed victims (predominantly preschool ...

journal_title：European journal of pediatrics

authors： Vrolijk-Bosschaart TF,Brilleslijper-Kater SN,Widdershoven GA,Teeuw ARH,Verlinden E,Voskes Y,van Duin EM,Verhoeff AP,Benninga MA,Lindauer RJL

更新日期：2017-10-01 00:00:00

abstract：:Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...

journal_title：European journal of pediatrics

authors： Hennekam RC,Barth PG,Van Lookeren Campagne W,De Visser M,Dingemans KP

更新日期：1991-07-01 00:00:00

abstract：:We aimed to demonstrate the value of monitoring infants with arteriovenous malformation (AVM) during endovascular embolization with integrated evaluation of hemodynamics (IEH) and guiding decisions according to the underlying pathophysiology. This is a retrospective analysis of the perioperative hemodynamics data for ...

journal_title：European journal of pediatrics

authors： Selim A,El Wahab AA,Salem H,Yahmadi MA,Al Aisary S,Malviya M,ALhabsi A,Elsayed Y

更新日期：2021-01-01 00:00:00

abstract：:Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient wa...

journal_title：European journal of pediatrics

authors： Dalgic B,Egritas O

更新日期：2011-10-01 00:00:00

abstract：:The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the surgery and post-operative follow-up on behalf of the intraoperative findings. A retrospective revi...

journal_title：European journal of pediatrics

authors： Akova F,Aydin E,Nur Eray Y,Toksoy N,Yalcin S,Altinay S,Tetikkurt US

更新日期：2018-12-01 00:00:00

abstract：UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...

journal_title：European journal of pediatrics

authors： Musebeck J,Mohnike K,Beye P,Tönnies H,Neitzel H,Schnabel D,Grüters A,Wieacker PF,Stumm M

更新日期：2001-09-01 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