A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.

abstract：:Resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 26 prepubertal children divided into three groups: (1) children with both parents obese (n = 8, group OB2); (2) children with no obese parents and without familial history of obesity (n = 8, OB0); and (3) normal body weight...

journal_title：European journal of pediatrics

authors： Maffeis C,Schutz Y,Zoccante L,Pinelli L

更新日期：1993-02-01 00:00:00

abstract：:Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family,...

journal_title：European journal of pediatrics

authors： Ostergaard E,Schwartz M,Batbayli M,Christensen E,Hjalmarson O,Kollberg G,Holme E

更新日期：2010-02-01 00:00:00

abstract：:Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance--the major distressing factor in...

journal_title：European journal of pediatrics

authors： Rocha R,Vitor AB,Trindade E,Lima R,Tavares M,Lopes J,Dias JA

更新日期：2011-11-01 00:00:00

abstract：:The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autonomic and peripheral neuropathies has more commonly been reported in older individuals. We describe four children (two siblings) with this disorder, aged between 3 and 6 years at di...

journal_title：European journal of pediatrics

authors： Gazarian M,Cowell CT,Bonney M,Grigor WG

更新日期：1995-01-01 00:00:00

abstract：UNLABELLED:Cystic adenomatoid malformation of the lung (CAML) is a rare pulmonary maldevelopment resulting from an abnormal growth of the terminal bronchial structures. This study proposes a possible management of prenatally diagnosed CAML. A group of nine cases of CAML diagnosed prenatally between January 1990 and Dec...

journal_title：European journal of pediatrics

authors： Bagolan P,Nahom A,Giorlandino C,Trucchi A,Bilancioni E,Inserra A,Gambuzza G,Spina V

更新日期：1999-11-01 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:Improved surgical care during the last decades, together with advances in medical management, led to a remarkable increase in survival of patients with congenital heart disease (CHD). However, aging of the CHD population brings new challenges, and loss of follow-up of adolescents and adults with CHD is a maj...

journal_title：European journal of pediatrics

authors： Moceri P,Goossens E,Hascoet S,Checler C,Bonello B,Ferrari E,Acar P,Fraisse A

更新日期：2015-07-01 00:00:00

abstract：:The aim of this study was to assess demographic data, clinical presentation, metabolic features, and treatment in 76 children with urolithiasis presented from 2002 to 2011. Urolithiasis is responsible for 2.5/1,000 pediatric hospitalizations, with new cases diagnosed in 1.1/1,000 admissions. From the observed period, ...

journal_title：European journal of pediatrics

authors： Milošević D,Batinić D,Turudić D,Batinić D,Topalović-Grković M,Gradiški IP

更新日期：2014-03-01 00:00:00

abstract：:Urinary recovery and serum determination of Paba were carried out in 48 control children (C) and 53 paediatric patients with cystic fibrosis (CF) divided into three classes by age. Ninety and 120 min after the ingestion of 15 mg/kg of BT-Paba and of a standard meal, serum Paba was determined. In the same subjects the ...

journal_title：European journal of pediatrics

authors： Bellentani S,Grisendi A,Rinaldi M,Bertolani P,Costa G,Agostini M,Mastella G,Balli F,Manenti F

更新日期：1984-12-01 00:00:00

abstract：:We aimed to determine whether precocious adrenarche (PA) has a different impact on screening tests for metabolic issues and pubertal timing in boys and girls born appropriate for gestational age (AGA). Puberty and initial metabolic screening results of 47 girls and 23 boys with PA born AGA followed up from our outpati...

journal_title：European journal of pediatrics

authors： Uçar A,Saka N,Baş F,Bundak R,Günöz H,Darendeliler F

更新日期：2012-11-01 00:00:00

abstract：UNLABELLED:The aim of the present study was to compare partial deletions of the complement C4 gene in victims of totally unexplained sudden infant death (SID) (n = 89) and borderline SID (n = 15) with and without slight infections prior to death, in cases of infectious death (n = 19), and in living infants with and wit...

journal_title：European journal of pediatrics

authors： Opdal SH,Vege A,Stave AK,Rognum TO

更新日期：1999-03-01 00:00:00

abstract：:A 10-year-old boy with chyluria due to a congenital fistulous communication between the lymphatic system and the bladder is described. Chyluria can be parasitic or non-parasitic. Many causes of non-parasitic chyluria have been reported. Lymphography is the preoperative imaging procedure of choice since it demonstrates...

journal_title：European journal of pediatrics

authors： Stalens JP,Falk M,Howmann-Giles R,Roy LP

更新日期：1992-01-01 00:00:00

abstract：:Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinuous pattern in most fibers. In both patients dyst...

journal_title：European journal of pediatrics

authors： Minetti C,Tanji K,Chang HW,Medori R,Cordone G,DiMauro S,Bonilla E

更新日期：1993-10-01 00:00:00

abstract：:This was an uncontrolled, open-label follow up study of a previous 12-month, randomized, double-blind, placebo-controlled trial performed to assess the long-term efficacy and safety of Recombinant Human Interferon Gamma (rIFN-gamma) in patients with chronic granulomatous disease (CGD). In two centres, 28 patients (24 ...

journal_title：European journal of pediatrics

authors： Weening RS,Leitz GJ,Seger RA

更新日期：1995-04-01 00:00:00

abstract：:Necrotizing enterocolitis (NEC) is usually considered to be a neonatal disease, and is rarely described beyond the newborn period. During the last 15 years, 19 infants from the Negev region, Israel, with NEC were beyond the neonatal age group (range = 34-616 days, median = 90 days). Of this group only 16% were born pr...

journal_title：European journal of pediatrics

authors： Dagan R,Ben-Yacov O,Mares AJ,Moses SW,Bar-Ziv J

更新日期：1984-04-01 00:00:00

abstract：:We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions ch...

journal_title：European journal of pediatrics

authors： Sznajer Y,Siitonen HA,Roversi G,Dangoisse C,Scaillon M,Ziereisen F,Tenoutasse S,Kestilä M,Larizza L

更新日期：2008-02-01 00:00:00

abstract：UNLABELLED:In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. [8]. Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the...

journal_title：European journal of pediatrics

authors： Lagae L

更新日期：2000-08-01 00:00:00

abstract：:Phenylketonuria's (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of this study was to evaluate the reliability of ADMA as a biomarker of adequate metabolic control and possible nutritional risk in a long-term PKU patient popula...

journal_title：European journal of pediatrics

authors： Andrade F,Villate O,Couce ML,Bueno MA,Alcalde C,de Las Heras J,Ceberio L,Núñez-Marcos S,Nambo PS,Aldámiz-Echevarría L

更新日期：2019-06-01 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：:Plasma prolactin (PRL) response to arginine was examined in 16 prepubertal and 18 pubertal children with constitutional short stature, 5 patients with hyperthyroidism and 4 patients with primary hypothyroidism. The mean basal concentration of plasma PRL was significantly higher (P less than 0.01) in primary hypothyroi...

journal_title：European journal of pediatrics

authors： Abe K,Matsuura N,Fujita H,Fujieda K,Kato T,Nohara Y,Mikami Y,Fukushima N

更新日期：1982-10-01 00:00:00

abstract：:Neurological manifestations and outcomes of children with the 2009 H1N1 virus infection have been reported in three American series and from smaller cohorts and case reports worldwide. Of the 83 children admitted between April 2009 and March 2010 with H1N1 virus infection to a tertiary children's hospital in a Europea...

journal_title：European journal of pediatrics

authors： Surana P,Tang S,McDougall M,Tong CY,Menson E,Lim M

更新日期：2011-08-01 00:00:00

abstract：INTRODUCTION:Prevention of obesity and overweight is an important target for health promotion. Early prevention requires an intervention during childhood and adolescence. At these stages, the game could be an appropriate means to teach nutrition knowledge and to influence dietary behaviour. To this end, the authors dev...

journal_title：European journal of pediatrics

authors： Amaro S,Viggiano A,Di Costanzo A,Madeo I,Viggiano A,Baccari ME,Marchitelli E,Raia M,Viggiano E,Deepak S,Monda M,De Luca B

更新日期：2006-09-01 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：:It is the pediatrician's role to promote the child's well-being and to help parents raise healthy, well-adjusted children. Today's pediatricians are confronted with a patient population in which there is a high prevalence of child abuse in its different presentations (physical, sexual, and psychological abuse and/or n...

journal_title：European journal of pediatrics

authors： Marchand J,Deneyer M,Vandenplas Y

更新日期：2012-01-01 00:00:00

abstract：:The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. We report on 7 patients with very late diagnosed severe hypopituitarism...

journal_title：European journal of pediatrics

authors： Boros E,Casimir M,Heinrichs C,Brachet C

更新日期：2020-01-01 00:00:00

abstract：:The unfavorable impact of prematurity on the developing cerebellum was recently recognized, but the outcome after impaired cerebellar development as a prematurity-related complication is hitherto not adequately documented. Therefore we compared 31 preterm patients with disrupted cerebellar development to a control gro...

journal_title：European journal of pediatrics

authors： Messerschmidt A,Fuiko R,Prayer D,Brugger PC,Boltshauser E,Zoder G,Sterniste W,Weber M,Birnbacher R

更新日期：2008-10-01 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：:Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...

journal_title：European journal of pediatrics

authors： Herting E,Kribs A,Härtel C,von der Wense A,Weller U,Hoehn T,Vochem M,Möller J,Wieg C,Roth B,Göpel W,German Neonatal Network (GNN).

更新日期：2020-08-01 00:00:00

abstract：UNLABELLED:Increased breastfeeding was suggested as a contributing factor to significant hyperbilirubinemia. The aim of this study was to identify the risk factors associated with jaundice in exclusively breastfed term neonates. We retrospectively reviewed all consecutively live-born neonates from August 2009 to July 2...

journal_title：European journal of pediatrics

authors： Chen YJ,Chen WC,Chen CM

更新日期：2012-01-01 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