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 girls (group 2). In group 1, five patients had a medical history: cerebellar ataxia due to congenital disorder of glycosylation (CDG) 1 in three cases, mitochondrial disease in one case, and autoimmune deficiencies in one case. The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease. In group 2, associated diseases were arthrogryposis malformative, gut, and bladder malformations and kidney failure or parieto-occipital tumor. The genes tested (NR5A1, BMP15, GDF9, and NOBOX) showed no mutation. CONCLUSIONS:The frequency of defined etiologies (47%) is high. This is probably because of the recruitment of the cases at the pediatric center, where other somatic anomalies can lead to the accurate determination of the etiology.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Brauner R,Pierrepont S,Bignon-Topalovic J,McElreavey K,Bashamboo Adoi
10.1007/s00431-014-2457-5subject
Has Abstractpub_date
2015-06-01 00:00:00pages
767-73issue
6eissn
0340-6199issn
1432-1076journal_volume
174pub_type
杂志文章abstract:UNLABELLED:Although Shiga toxin-producing Escherichia coli (STEC) has been isolated in Brazil, severe manifestations of the infection, such as haemorrhagic colitis and haemolytic-uraemic syndrome, are extremely rare in our population. Enteropathogenic Escherichia coli (EPEC) is the main aetiological agent of acute infa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1561-3
更新日期:2005-01-01 00:00:00
abstract:UNLABELLED:Cystic fibrosis is a life shortening hereditary disease, primarily leading to progressive pulmonary infection and exocrine pancreatic dysfunction. Several gastrointestinal complications other than malabsorption can arise during the disease course and with the progressively increasing life span of patients wi...
journal_title:European journal of pediatrics
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abstract:UNLABELLED:The importance of ultrasonography after the first febrile urinary tract infection has been recently challenged. The aim of this study was to evaluate the role of ultrasonography in detection of significant non-reflux abnormalities in the kidneys and the urinary tract, and to determine whether these findings ...
journal_title:European journal of pediatrics
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更新日期:2006-08-01 00:00:00
abstract::Despite the sudden and often alarming clinical manifestations of ITP, few patients in the pediatric age group develop serious complications or long-term sequellae. Conservative therapy, without use of pharmacologic or surgical intervention, is the most convenient, safe, and cost-effective approach in the vast majority...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02343213
更新日期:1987-03-01 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
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更新日期:1983-03-01 00:00:00
abstract:UNLABELLED:We investigated the histological and molecular characteristics of pulmonary alveolar proteinosis (PAP) in two siblings (a brother and sister) who did not exhibit respiratory distress at birth but who each developed symptoms during infancy. Histological analysis of lung specimens showed positive staining for ...
journal_title:European journal of pediatrics
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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
pub_type: 杂志文章
doi:10.1007/BF01954738
更新日期:1994-12-01 00:00:00
abstract::The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02190682
更新日期:1994-09-01 00:00:00
abstract::Blood volume was estimated using 51chromium labelled red cells and 125iodinated human serum albumin in 5 children with sepsis, in 6 burned children and 7 children with acute lymphoblastic leukaemia. Studies of the equilibration pattern demonstrated that the mixing time of labelled red cells was prolonged to 40 minutes...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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更新日期:1977-06-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2601-x
更新日期:2016-01-01 00:00:00
abstract::This systematic review and meta-analysis assessed the effects of early fortification (EF) versus late fortification (LF) of breast milk (BM) on growth of preterm infants. Randomized and quasi-randomized controlled trials (RCTs) dealing with the effects of EF versus LF on growth parameters, incidence of adverse events,...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
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更新日期:2020-07-01 00:00:00
abstract:UNLABELLED:A 15-year-old healthy girl ingested 38.25 g (0.55 g/kg body weight) of metformin in a suicide attempt. Subsequently she developed lactic acidosis and moderate renal failure. An initial session of haemodialysis was able to treat the acidosis and reduce the toxic level of metformin. Nevertheless, a further inc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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更新日期:2005-06-01 00:00:00
abstract:UNLABELLED:In patients with Henoch-Schönlein purpura (HSP) presenting with severe gastro-intestinal (GI) symptoms, IgA deposition was studied in endoscopically obtained mucosal biopsies. A total number of 11 patients (male, 7; female, 4) were enrolled in this study; 7 patients underwent upper GI endoscopy and biopsy 1 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02075757
更新日期:1996-02-01 00:00:00
abstract::Anthropometric indices (AI) have been known to be associated with age at menarche (AAM). The aim of this longitudinal study was to evaluate the changes in AI and its association with AAM in a community-based population in Iran. From among 10,192 women, we included 6818, aged ≥ 10 years, who were post-menarche at the t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03575-x
更新日期:2020-09-01 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
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02072056
更新日期:1990-12-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2374-7
更新日期:2014-12-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1513-7
更新日期:2012-01-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
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abstract:UNLABELLED:The aim of this study was to assess whether the severity of congenital heart defects (CHD) affects disease-specific health-related quality of life (HRQOL) in children after open heart surgery. One hundred and fourteen children with CHD and one of their parents participated in the study. HRQOL was evaluated b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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journal_title:European journal of pediatrics
pub_type: 杂志文章
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03777-3
更新日期:2021-01-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051233
更新日期:1999-11-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051285
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abstract::Forty newborns with severe shock and disseminated intravascular coagulation were randomized for treatment with heparin or placebo. Mortality was equal in both groups. The heparin group required significantly shorter periods of artificial ventilation. The coagulation system improved faster, and the coagulation pattern ...
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/BF00444754
更新日期:1980-01-01 00:00:00
abstract:BACKGROUND:The treatment of complicated urinary tract infection in children is still a matter of debate. In our hospital, antimicrobial treatment is initiated intravenously, and the duration of this treatment is adapted according to the results of a Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy. AIM:This study wa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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更新日期:2013-09-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
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更新日期:1993-01-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
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更新日期:2012-06-01 00:00:00
abstract::Chronic lung disease of prematurity (CLD) remains a common cause of morbidity and mortality in preterm infants. Oxygen toxicity remains a major risk factor for the development of CLD and as a consequence the antioxidant status of CLD babies is a major focus of interest. In the present study, we determined whether asco...
journal_title:European journal of pediatrics
pub_type: 杂志文章
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