Growth hormone treatment in a child with Williams-Beuren syndrome: a case report.

abstract：UNLABELLED:About 50% of intersex cases are due to male pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference ...

journal_title：European journal of pediatrics

authors： de Andrade Machado Neto F,Moreno Morcillo A,Trevas Maciel-Guerra A,Guerra-Junior G

更新日期：2005-05-01 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 phenylketonuria, compliance and diet is a difficult issue; it is hard to quantify and is under-researched. It is influenced by many factors. Failure to consume prescribed quantity of protein substitute has been commonly reported and is probably affected by their acceptability, format and timing of adminis...

journal_title：European journal of pediatrics

authors： MacDonald A

更新日期：2000-10-01 00:00:00

abstract：:Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a ha...

journal_title：European journal of pediatrics

authors： Spranger J,Cantz M,Gehler J,Liebaers I,Theiss W

更新日期：1978-08-17 00:00:00

abstract：:Chest radiographs from children with community-acquired pneumonia (CAP) were categorized into three distinct presentations and each presentation was correlated to clinical and laboratory findings. Children < 59 months with CAP presenting to pediatric emergency rooms during two years were enrolled prospectively in eigh...

journal_title：European journal of pediatrics

authors： Falup-Pecurariu OG,Diez-Domingo J,Esposito S,Finn A,Rodrigues F,Spoulou V,Syrogiannopoulos GA,Usonis V,Greenberg D,CAP-PRI.

更新日期：2018-07-01 00:00:00

abstract：:Positional plagiocephaly (PP) denotes flattening of the skull that occurs frequently in healthy infants. Aim of this study was to estimate the prevalence of positional plagiocephaly and to identify the risk factors in a cohort of healthy infants in order to help prevention of PP. In a prospective design, all healthy f...

journal_title：European journal of pediatrics

authors： Ballardini E,Sisti M,Basaglia N,Benedetto M,Baldan A,Borgna-Pignatti C,Garani G

更新日期：2018-10-01 00:00:00

abstract：:Twelve preterm infants, median gestational age 31.5 weeks, were entered into a randomised, placebo-controlled trial of bronchodilator therapy. Their postnatal age was a median of 17.5 months and all suffered from recurrent respiratory symptoms. The infants received either inhaled placebo or 40 micrograms of ipratropiu...

journal_title：European journal of pediatrics

authors： Yuksel B,Greenough A

更新日期：1991-10-01 00:00:00

abstract：:The risk factors for recurrent apparent life-threatening event (ALTE) are unclear although the risk of recurrent ALTE is an important consideration for the management of ALTE patients. This study aimed to identify the risk factors for recurrent ALTE. We conducted a secondary analysis of the data from a single center r...

journal_title：European journal of pediatrics

authors： Ueda R,Nomura O,Maekawa T,Sakai H,Nakagawa S,Ishiguro A

更新日期：2017-04-01 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：:CD3+4-8- double negative cells in peripheral blood lymphocytes were examined in 21 severely handicapped children divided into two groups according to serum IgG level. All children were bedridden and were taking multiple anticonvulsants and there were no apparent clinical differences between these two groups. Serum lev...

journal_title：European journal of pediatrics

authors： Kawano Y,Noma T,Yoshizawa I,Maruki K,Yata J

更新日期：1994-12-01 00:00:00

abstract：:We report a 28-day-old female infant with pertussis presenting as severe acute bronchiolitis with cyanosis. On admission, the patient's symptoms were similar to those of acute bronchiolitis. However, occasional apneic episodes with cyanosis and peripheral lymphocytosis suggested neonatal pertussis and prompted us to e...

journal_title：European journal of pediatrics

authors： Nakamura A,Sakano T,Nakayama T,Shimoda H,Okada Y,Hanayama R,Nomoto K,Suto T,Kinoshita Y,Furue T,Ono H,Ohta T

更新日期：2009-03-01 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：UNLABELLED:Neuroleptic malignant syndrome (NMS) is a rare but serious disorder caused by antipsychotic medication including phenothiazines. For sedative purposes, increasing doses of alimemazine were administered to a 4-year-old multiple handicapped girl, with cerebral damage of the basal ganglia. She developed extra-p...

journal_title：European journal of pediatrics

authors： van Maldegem BT,Smit LM,Touw DJ,Gemke RJ

更新日期：2002-05-01 00:00:00

abstract：:To determine the relationship between total serum bilirubin (TSB) during the first 2 days of life and subsequent neonatal morbidity in very low birth weight (VLBW, less than 1500 g) infants. We performed a prospective study of 582 VLBW infants born between July 1, 2005 and December 31, 2009. TSB was measured in umbili...

journal_title：European journal of pediatrics

authors： Zhu J,Xu Y,Zhang G,Bao Y,Wu M,Du L

更新日期：2012-04-01 00:00:00

abstract：UNLABELLED:The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium channelopathies...

journal_title：European journal of pediatrics

authors： Surtees R

更新日期：2000-12-01 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：:When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed b...

journal_title：European journal of pediatrics

authors： Traupe H,Happle R

更新日期：1983-03-01 00:00:00

abstract：UNLABELLED:Atypical hemolytic uremic syndrome (HUS) refers to the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury in the absence of Shiga toxin-producing Escherichia coli exposure or Streptococcus pneumoniae infection. Currently, approximately 50 % of the atypical cases have demons...

journal_title：European journal of pediatrics

authors： Ruebner RL,Kaplan BS,Copelovitch L

更新日期：2012-10-01 00:00:00

abstract：:We describe a patient with leucocyte adhesion deficiency (LAD). Clinically, the patient had delayed umbilical cord detachment, omphalitis, impaired wound healing and persistent leucocytosis. The patient had the severe form of LAD, with a total absence of leucocyte cell adhesion molecules (LeuCAMs) and undetectable mRN...

journal_title：European journal of pediatrics

authors： Weening RS,Bredius RG,Vomberg PP,van der Schoot CE,Hoogerwerf M,Roos D

更新日期：1992-02-01 00:00:00

abstract：UNLABELLED:We present a 9-month-old boy with megaloblastic anaemia, neutropenia and hypogammaglobulinaemia due to vitamin B12 deficiency. The deficiency was secondary to prolonged exclusive breastfeeding with inadequate nutritional amounts of vitamin B12 from the mother. There were no clinical or biological signs of ma...

journal_title：European journal of pediatrics

authors： Quentin C,Huybrechts S,Rozen L,De Laet C,Demulder A,Ferster A

更新日期：2012-01-01 00:00:00

abstract：UNLABELLED:A postal survey of 31 European centres was conducted to document current practices regarding screening and management of hepatitis C virus (HCV)-infected pregnant women and their children. Antenatal HCV prevalence was low. Universal antenatal screening programmes were in place in ten centres, selective scree...

journal_title：European journal of pediatrics

authors： Pembrey L,Newell ML,Tovo PA

更新日期：1999-10-01 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：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...

journal_title：European journal of pediatrics

authors： Doose H

更新日期：1994-05-01 00:00:00

abstract：:A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical r...

journal_title：European journal of pediatrics

authors： Hommes FA

更新日期：1994-01-01 00:00:00

abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...

journal_title：European journal of pediatrics

authors： Tazawa Y,Yamada M,Nakagawa M,Konno T,Tada K

更新日期：1985-05-01 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：:Diarrhea-associated hemolytic uremic syndrome (D+HUS) is a common thrombotic microangiopathy during childhood and early identification of parameters predicting poor outcome could enable timely intervention. This study aims to establish the accuracy of BUN-to-serum creatinine ratio at admission, in addition to other pa...

journal_title：European journal of pediatrics

authors： Keenswijk W,Vanmassenhove J,Raes A,Dhont E,Vande Walle J

更新日期：2017-03-01 00:00:00

abstract：:Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We p...

journal_title：European journal of pediatrics

authors： Vargiami EG,Farmaki E,Tasiopoulou D,Zafeiriou DI,Badouraki M,Anastasiou A,Karkos C,Gombakis N,Athanasiou-Metaxa M

更新日期：2010-04-01 00:00:00

abstract：:The correlation between a releasable pituitary growth hormone (GH) pool and degree of growth failure was examined in 30 children with GH deficiency (group I) and 19 children with normal short stature (group II). Based on the responsiveness of GH to GH-releasing hormone (GHRH), group I, with low GH responses (below 7 n...

journal_title：European journal of pediatrics

authors： Kajiwara S,Igarashi N,Imura E,Sato T

更新日期：1988-08-01 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