Abstract:
:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy have emerged as their modes of action have been studied more carefully. Tetrathimolybdate may have a place in treatment, especially when rapid complexing of copper is important. Hepatic copper accumulation occurs in a number of cholestatic diseases and they play an important part in pathogenesis and can occasionally lead to neurologic toxic effects. Copper overload in the newborn period when biliary excretion of copper is inefficient may establish a vicious cycle of copper accumulation and liver damage in Indian childhood cirrhosis and less frequently in babies in other countries.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Danks DMdoi
10.1007/BF01963553subject
Has Abstractpub_date
1991-01-01 00:00:00pages
142-8issue
3eissn
0340-6199issn
1432-1076journal_volume
150pub_type
杂志文章,评审abstract::Infantile hepatic hemangioma is the most common benign liver tumor during infancy. Prompt diagnosis and timely institution of therapy are of utmost importance. Magnetic resonance imaging (MRI) plays a key role in the correct diagnosis and monitoring of treatment. We report on a 15-week-old girl with multifocal infanti...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1671-7
更新日期:2012-07-01 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::Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset ad...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0779-x
更新日期:2009-03-01 00:00:00
abstract:UNLABELLED:The treatment of blunt splenic injuries (BSI) has undergone a significant shift away from an operative approach to a conservative treatment regimen in the last decades. Data concerning long-term follow-up of children sustaining BSI are largely confined to telephone surveys. Children treated with BSI over a 3...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2022-7
更新日期:2013-09-01 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
pub_type: 杂志文章
doi:10.1007/BF02073385
更新日期:1993-10-01 00:00:00
abstract:UNLABELLED:A prospective study was conducted to determine the serotypes and antibiotic resistance patterns of pneumococcal isolates from children with invasive pneumococcal disease (IPD) and acute otitis media (AOM). From October 2001 to May 2002, 65 children with IPD (28 bacteraemic pneumonia, 24 bacteraemia without f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1447-4
更新日期:2004-07-01 00:00:00
abstract::Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal as long as no marked liver disease was present. Under these condition...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02073885
更新日期:1992-01-01 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
pub_type: 杂志文章
doi:10.1007/s00431-011-1447-0
更新日期:2011-10-01 00:00:00
abstract::Tinea of the nails is not an exclusively adult pathology. The pediatrician should include this entity in the differential diagnosis. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0332-8
更新日期:2007-09-01 00:00:00
abstract::The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was fo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442688
更新日期:1988-04-01 00:00:00
abstract:UNLABELLED:The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characterist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050762
更新日期:1998-01-01 00:00:00
abstract:UNLABELLED:Portal vein thrombosis is a rare but potentially lethal complication in children requiring splenectomy. We report on a 15-year-old boy with a dehydrated hereditary stomatocytosis, who underwent splenectomy and presented a postoperative partial portal vein thrombosis. With prompt heparin therapy, neither prop...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051165
更新日期:1999-08-01 00:00:00
abstract::This was the first study to characterize the total burden of rotavirus gastroenteritis (RVGE) at both hospital and general physician (GP) clinics in Denmark, and also the first to confirm rotavirus (RV) as the leading cause of acute gastroenteritis (GE) among children <5 years in GP clinics nationwide. Several aspects...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-011-1465-y
更新日期:2011-12-01 00:00:00
abstract:UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000652
更新日期:2001-02-01 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
pub_type: 杂志文章
doi:10.1007/s00431-017-2996-7
更新日期:2017-10-01 00:00:00
abstract::The number of infants born preterm including extremely premature babies is rising worldwide, particularly in low- and middle-income countries, which challenge neonatologists and milk banks for the provision of the most adequate nutrition for successful infant's growth and development. The benefits of mother's own milk...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03887-y
更新日期:2020-11-27 00:00:00
abstract:UNLABELLED:During the last decade, much concern has been expressed about online pro-eating disorder communities (e.g., pro-anorexia websites and blogs) which encourage their users to engage in disordered eating behavior. The aim of the current paper is to reemphasize the importance of pro-eating disorder communities in...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-015-2487-7
更新日期:2015-04-01 00:00:00
abstract:UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1740-x
更新日期:2005-12-01 00:00:00
abstract:UNLABELLED:Storage of human breast milk by freezing or refrigeration of milk with and without heating have been recommended. This can hardly be avoided because of the social circumstances of most mothers who are regularly separated from their infants because of work or schooling as well as the particular needs of some ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000577
更新日期:2000-11-01 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
pub_type: 杂志文章
doi:10.1007/s00431-020-03821-2
更新日期:2020-10-21 00:00:00
abstract::Adolescence is a period characterized by rapid physical maturation, involving bodily changes that often necessitate a reorganization of self-perception. The current study investigated the impact of menarche on the determinants of quality of life in healthy female adolescents. Data were collected from 361 healthy femal...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03594-8
更新日期:2020-06-01 00:00:00
abstract::The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014253
更新日期:1996-07-01 00:00:00
abstract::Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this ret...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03576-w
更新日期:2020-06-01 00:00:00
abstract::A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441934
更新日期:1977-03-18 00:00:00
abstract::This study assessed the agreement between arterial and venous blood lactate and pH levels in children with sepsis. This retrospective, three-year study involved 60 PICU patients, with data collected from electronic or paper patient records. The inclusion criteria comprised of children (≤17 years old) with sepsis and t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2925-9
更新日期:2017-08-01 00:00:00
abstract::Maternal morbidity is associated with cesarean deliveries. However, new evidence suggests that short- and long-term neonatal morbidity is also associated. This includes respiratory morbidity with conflicting results. To determine whether mode of delivery has an impact on the long-term risk for respiratory morbidity in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3225-8
更新日期:2018-11-01 00:00:00
abstract::Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been critically unwell. In this systematic review, we aimed to identify and describe which underlying comorbidities may be associated with severe SARS-CoV-2 disease and de...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03801-6
更新日期:2020-09-10 00:00:00
abstract::Serum creatinine, uric acid, and hypoxanthine and xanthine concentrations were determined in 17 mother-infant pairs at the time of delivery. Creatinine and uric acid levels were nearly similar, but hypoxanthine and xanthine were more than twice as high in the blood of the infants than in the blood of their mothers. In...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441585
更新日期:1980-03-01 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
pub_type: 杂志文章
doi:10.1007/s00431-010-1376-3
更新日期:2011-07-01 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
pub_type: 杂志文章
doi:10.1007/s00431-006-0234-9
更新日期:2007-03-01 00:00:00