Abstract:
:Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any factor or condition suspected to play a causal or facilitating role in the process, pulmonary hypertension is "unexplained" (primary pulmonary hypertension, PPH). PPH is a rare condition, with an estimated incidence of 2 per million people. Recent genetic studies have identified mutations in the bone morphogenetic protein receptor-II (BMPR-II) gene, a receptor member of the transforming growth factor-beta family, in a majority of familial cases of PPH. Interestingly, 25% of patients displaying sporadic PPH may also have mutations in the BMPR-II gene, emphasising the relevance of genetic susceptibility for this severe condition. Other molecular and biochemical processes behind the complex vascular changes associated with pulmonary arterial hypertension are currently investigated. Type 1a glycogen storage disease caused by a deficiency of glucose-6-phosphatase has an estimated incidence of 1 per 100000 with a few reported cases of unexplained severe pulmonary hypertension. The occurrence of pulmonary arterial hypertension in type 1a glycogen storage disease could be due to vasoconstrictive amines such as serotonin, a pulmonary vasoconstrictor and growth factor for vascular smooth muscle cells stored in platelets.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Humbert M,Labrune P,Simonneau Gdoi
10.1007/s00431-002-1012-ykeywords:
subject
Has Abstractpub_date
2002-10-01 00:00:00pages
S93-6eissn
0340-6199issn
1432-1076journal_volume
161 Suppl 1pub_type
杂志文章abstract:UNLABELLED:This study assessed health-related quality of life (HRQoL) reported by overweight adolescents and compared to their parent-proxy perception of HRQoL, according to adolescent gender, adolescent age, and parent gender. Patients and a total of 179 adolescents aged 10 to 18 years with excess weight were evaluate...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2050-3
更新日期:2013-10-01 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
pub_type: 杂志文章
doi:10.1007/BF00451900
更新日期:1985-07-01 00:00:00
abstract::Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the scree...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00451907
更新日期:1985-07-01 00:00:00
abstract::Twin-to-twin transfusion (TTT) is a complication of monochorionic twins that may result in high mortality and morbidity. To better understand pathophysiology in TTT and the consequences for affected fetuses and neonates, we describe the clinical features of 19 consecutive pregnancies complicated by TTT over 5 years. T...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1107-5
更新日期:2003-02-01 00:00:00
abstract::Phenobarbital has been shown to offer effective prophylaxis against childhood febrile convulsions. However, a high percentage of children do not tolerate phenobarbital, mainly due to behavioral changes. Valproate, due to its low toxicity, appears to be an attractive alternative to phenobarbital treatment. Ninety child...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441308
更新日期:1981-10-01 00:00:00
abstract::Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2986-9
更新日期:2017-10-01 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
pub_type: 杂志文章,评审
doi:10.1007/pl00014375
更新日期:2000-10-01 00:00:00
abstract:UNLABELLED:In order to determine the response to high-frequency oscillatory ventilation (HFOV), used as an "early rescue" therapy, in a cohort of paediatric patients with acute respiratory distress syndrome (ARDS), a prospective clinical study was performed in a tertiary care paediatric intensive care unit. Ten consecu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1544-4
更新日期:2005-01-01 00:00:00
abstract:UNLABELLED:Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multice...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/pl00014336
更新日期:1999-12-01 00:00:00
abstract::Through a systematic review and meta-analyses, we aimed to determine predictors for place of death among children. We searched online databases for studies published between 2008 and 2019 comprising original quantitative data on predictors for place of death among children. Data regarding study design, population char...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03689-2
更新日期:2020-08-01 00:00:00
abstract::A 4-month-old infant was admitted to the Pediatric Intensive Care Unit with Pneumococcal meningitis. A few hours after admission he developed intractable convulsions that could not be stopped with phenytoin, phenobarbitone and a continuous drip of diazepam. Thiopentone sodium anaesthesia was induced for 24 h terminati...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441663
更新日期:1983-04-01 00:00:00
abstract::Lung ultrasound (LUS) has been described as a useful tool in early prognosis of several respiratory diseases of the newborn, especially preterm infant newborns (PTNB) with respiratory distress syndrome (RDS), but still, it is not a standard of care in many neonatal units. We have conducted a descriptive, prospective s...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03470-0
更新日期:2020-01-01 00:00:00
abstract::The incidence of intussusception in infants varies around the world. The epidemiology of intussusception in France has never been prospectively studied. We performed a prospective observational study with systematic inclusion of all infants aged <1 year with suspected intussusception admitted to the emergency departme...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-016-2838-z
更新日期:2017-03-01 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::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
pub_type: 杂志文章
doi:10.1007/BF00491922
更新日期:1985-05-01 00:00:00
abstract:UNLABELLED:The objective of this open study was to monitor the long-term effectiveness of the Lederle-Takeda diphtheria and tetanus toxoids and acellular pertussis antigen(s) (DTaP) vaccine and the Wyeth-Lederle diphtheria and tetanus toxoids and pertussis whole cell (DTP) vaccine in children who had received four dose...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-001-0893-5
更新日期:2002-03-01 00:00:00
abstract::This study is a retrospective analysis of seven patients with hypoechogenic lesions in the liver and/or spleen due to Bartonella henselae, who were followed from 1998 through to 2005 by the Department of Pediatrics, Turin University. In addition to showing constitutional symptoms, four children had skin lesions sugges...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0500-5
更新日期:2008-04-01 00:00:00
abstract:UNLABELLED:Primary spontaneous pneumothorax (PSP) is not uncommon, and its recurrence is often a challenging clinical problem. Surgical management and predisposing factors for the recurrence of PSP, however, have not yet been well elucidated in adolescent patients. The major aim of this study was to investigate factors...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2352-0
更新日期:2014-11-01 00:00:00
abstract::An 18-month-old child with partial DiGeorge syndrome developed aplastic anaemia during an acute adenovirus infection. Assessment of the child's immune system revealed T-cell subset abnormalities consistent with DiGeorge syndrome. A possible link between the underlying immune deficiency and the observed complication is...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442482
更新日期:1988-08-01 00:00:00
abstract:UNLABELLED:To study the developmental effects of prenatal exposure to opiates, a prospective follow up study of 34 drug-exposed (opiates and nicotine) and 42 reference infants (nicotine exposure only) was conducted from January 1992 to September 1995. At the time of delivery, 12 of 34 mothers used opiates without medic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050923
更新日期:1998-09-01 00:00:00
abstract:UNLABELLED:This study aimed to determine the population pharmacokinetics of doxapram in low-birth-weight (LBW) infants. A total of 92 serum concentration measurements that were obtained from 34 Japanese neonates were analyzed using nonlinear mixed-effect modeling (NONMEM). Estimates generated by NONMEM indicated that c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00431-014-2416-1
更新日期:2015-04-01 00:00:00
abstract::This paper describes the design of a study to follow the development of boys and girls in secondary schools from the age of 12 through 17 on an annual basis, in order to acquire more information concerning the growth and development of teenagers. In this study, both physical and psychological characteristics are measu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442158
更新日期:1978-10-12 00:00:00
abstract:UNLABELLED:Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and m...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1771-z
更新日期:2013-04-01 00:00:00
abstract::Shock is a state of circulatory dysfunction and its diagnosis is complex in neonates. Hemodynamic assessment using echocardiography has potential to guide better management regimes in neonates with shock. Objective of this study is to analyze changes in the echocardiographic parameters in preterm neonates with shock a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03775-5
更新日期:2020-12-01 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
pub_type: 杂志文章
doi:10.1007/BF00441493
更新日期:1982-10-01 00:00:00
abstract::Cough and wheezing are the predominant symptoms of acute bronchitis. Hitherto, the evaluation of respiratory symptoms was limited to subjective methods such as questionnaires. The main objective of this study was to objectively determine the time course of cough and wheezing in children with acute bronchitis. The impa...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00431-019-03426-4
更新日期:2019-09-01 00:00:00
abstract:UNLABELLED:We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tac...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-0015-x
更新日期:2006-02-01 00:00:00
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::Serum lysozyme activity was measured in samples from children with acute leukemia, malignant tumours, and in normal children. All children with acute lymphatic leukemia (ALL) had significantly reduced levels of lysozyme at diagnosis, and none of the children fell within the normal range. Children with ALL in complete ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00493542
更新日期:1978-04-20 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