Abstract:
:A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase activity in serum and leucocytes. Other characteristic features of Fabry disease were not present. The condition was also diagnosed in his 14-year-old brother and suspected in his maternal grandfather who died at the age of 49 from renal failure of unknown aetiology.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
García-Consuegra J,Padrón M,Jaureguizar E,Carrascosa C,Ramos Jdoi
10.1007/BF01959404subject
Has Abstractpub_date
1990-04-01 00:00:00pages
500-1issue
7eissn
0340-6199issn
1432-1076journal_volume
149pub_type
杂志文章abstract:UNLABELLED:The study aims were to compare two models (The Pediatric Risk of Mortality III (PRISM III) and Pediatric Logistic Organ Dysfunction (PELOD-2)) for prediction of mortality in a pediatric intensive care unit (PICU) and recalibrate PELOD-2 in a Portuguese population. To achieve the previous goal, a prospective ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2533-5
更新日期:2015-10-01 00:00:00
abstract::We report two Chinese boys with Wiskott-Aldrich syndrome presenting with gastro-intestinal bleeding, eczema and recurrent infection. They had thrombocytopenia and the mean platelet volume was small. Serum IgG and IgA were elevated and lymphocyte proliferation in response to phytohaemagglutinin, concanavalin A and poke...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957573
更新日期:1992-09-01 00:00:00
abstract::Autoimmune hepatitis (AIH) is a member of autoimmune diseases family which can increase risk of cardiovascular morbidity and mortality. This study aimed to assess subclinical impact of AIH on global myocardial performance in affected children using Doppler tissue imaging (DTI) and to correlate it with total serum immu...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-013-2073-9
更新日期:2013-11-01 00:00:00
abstract::The purpose of this communication is to report the occurrence of early-onset Pseudomonas aeruginosa sepsis and Yersinia enterocolitica neonatal infection. This case serves as a reminder of the changing spectrum of neonatal septicaemia. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02343233
更新日期:1987-03-01 00:00:00
abstract::Current practice favors serotesting adolescents with a negative history of chickenpox rather than offering presumptive vaccination. Recent epidemiologic data from Greece indicate that a high proportion of adolescents (21.5%) are susceptible to chickenpox. We assessed the reliability of negative varicella history in re...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0701-6
更新日期:2009-01-01 00:00:00
abstract::Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Mente...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445896
更新日期:1980-10-01 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
pub_type: 杂志文章
doi:10.1007/pl00008352
更新日期:2000-11-01 00:00:00
abstract::A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442347
更新日期:1979-02-08 00:00:00
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
pub_type: 杂志文章
doi:10.1007/BF02074831
更新日期:1995-07-01 00:00:00
abstract:UNLABELLED:We describe two adolescent girls with a congenital portosystemic shunt who exhibited hyperandrogenism in addition to insulin resistant hyperinsulinaemia. Case 1 was referred to our clinic to undergo a routine clinical work-up prior to tonsillectomy at 14 years of age. Mild liver dysfunction was identified an...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000539
更新日期:2001-05-01 00:00:00
abstract::Children's feet are complex structures and strategies for supporting good foot health throughout childhood can be challenging. Greater awareness of the contemporary factors influencing decisions, such as footwear purchases, is needed to inform health narratives which are more closely aligned to parents' attitude and b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03920-0
更新日期:2021-01-15 00:00:00
abstract::To access outcome following hypoxic ischemic encephalopathy (HIE), survivors without cerebral palsy were invited for formal developmental assessment. Children aged ≥ 42 months were assessed using the NEPSY-2, Movement Assessment Battery for Children 2 (Movement ABC-2), Behavior Rating Inventory of Executive Function, ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3028-3
更新日期:2018-01-01 00:00:00
abstract::An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441792
更新日期:1985-11-01 00:00:00
abstract:UNLABELLED:The purpose of this study was to assess how much of the variance in intellectual outcome at 2 and 6 years of age could be attributed to treatment variables in children with congenital hypothyroidism, and which of the parameters used for monitoring treatment predicted later development. Forty-five children, e...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955261
更新日期:1996-05-01 00:00:00
abstract:UNLABELLED:Our aim was to study the frequency and clinical correlates of two radiographic patterns of bronchopulmonary dysplasia (BPD), the cystic BPD (cBPD) and the leaky lung syndrome (LLS). Radiographic findings of BPD from sixth day of life until term in a cohort of 82 very low birth weight (VLBW) infants were eval...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-011-1486-6
更新日期:2012-01-01 00:00:00
abstract::Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactat...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496802
更新日期:1983-12-01 00:00:00
abstract:UNLABELLED:Extremely immature newborns develop a self-limiting normal anion gap metabolic acidosis in early life. This study examined the natural history of this acidosis in a population of infants of gestation less than 26 weeks in the first 14 days of life. The acidosis was maximal on day 4 with a mean base deficit o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2364-9
更新日期:2015-01-01 00:00:00
abstract::Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442300
更新日期:1985-03-01 00:00:00
abstract::A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zell...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441774
更新日期:1985-11-01 00:00:00
abstract::The long-term consequences of transient neonatal hypoglycemia are sparsely studied. We performed a follow-up of a cohort of neonates with blood glucose recordings < 1.7 mmol/L (< 30 mg/dL), treated with > 2.5 mmol/L (> 45 mg/dL), compared with healthy siblings. Exclusion criteria were gestational age < 35 weeks, sever...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03729-x
更新日期:2020-12-01 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
pub_type: 杂志文章
doi:10.1007/s004310100790
更新日期:2001-09-01 00:00:00
abstract::To increase our knowledge of the clonal relationship of leukaemia relapse, the genotypes and phenotypes of ten children with acute lymphoblastic leukaemia (ALL) were examined at initial diagnosis and relapse. Seven patients were phenotyped as common ALL, two as mixed, and one as T-cell ALL (T-ALL). Comparative analyse...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441975
更新日期:1988-06-01 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
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01955008
更新日期:1991-10-01 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
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1616-1
更新日期:2012-01-01 00:00:00
abstract:UNLABELLED:The aim was to assess the incidence of complications related to skin-to-skin contact (SSC) in newborns with an umbilical venous catheter (UVC). We carried out a prospective follow-up study of all UVCs in a level 3 unit where SSC is systematic. A total of 333 babies were included (mean gestational age of 31.3...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2665-7
更新日期:2016-04-01 00:00:00
abstract:UNLABELLED:Scorpion envenomation is a health problem in children in tropical and subtropical regions. The aim of this study was to evaluate demographic and clinical characteristics as well as outcomes in referred children to Assiut University Children Hospital during the year 2012 with a history of scorpion sting. The ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2244-8
更新日期:2014-06-01 00:00:00
abstract::Relevant findings are reported in an 8-year-old boy with skin infection due to Staphylococcus aureus producing toxic shock syndrome toxin-1 without shock but with an increase in antibody titre against the toxin. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444123
更新日期:1989-01-01 00:00:00
abstract:UNLABELLED:The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine gi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2457-5
更新日期:2015-06-01 00:00:00
abstract::Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1869-3
更新日期:2013-02-01 00:00:00
abstract:UNLABELLED:Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partia...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1405-1
更新日期:2004-04-01 00:00:00