Abstract:
:A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 year-old male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Fryns JP,Pedersen JC,Duyck H,Fabry G,Van den Berghe Hdoi
10.1007/BF00441473subject
Has Abstractpub_date
1980-09-01 00:00:00pages
201-4issue
3eissn
0340-6199issn
1432-1076journal_volume
134pub_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::Mid-aortic syndrome is characterized by narrowing of the abdominal aorta, usually with the involvement of renal arteries and other visceral branches. The combination of the presence of an abdominal bruit, diminished or absent pulsations of the lower extremities, and a blood pressure discrepancy between upper and lower...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1800-y
更新日期:2013-03-01 00:00:00
abstract:UNLABELLED:Aim of our study was to evaluate Doppler renal blood flow velocity in asphyxiated neonates and to correlate renal function to Doppler findings. Doppler renal blood flow velocity was evaluated in 23 severely asphyxiated neonates born at a gestational age > 32 weeks and compared to our standard Doppler data ob...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050905
更新日期:1998-08-01 00:00:00
abstract::Neonatal diabetes, which may be transient or permanent, is rare. Most patients are full-term but small- for-date infants. Typical symptoms of diabetes mellitus occur within the first 4 weeks of life, requiring insulin therapy and very strict blood glucose monitoring. Subsequent growth and psychomotor development are u...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01958635
更新日期:1995-12-01 00:00:00
abstract::Perinatal transmission remains the main cause of HIV infection in the pediatric population. Treatment of HIV-infected children has become less of a problem in resource-rich countries with a remarkable decrease of perinatal infections, resulting in an effective prevention of mother-to-child transmission and antiretrovi...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-008-0914-8
更新日期:2009-04-01 00:00:00
abstract::Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In h...
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
abstract::Paediatric patients are more vulnerable to drug administration errors due to a lack of appropriate drug dosages and strengths for use in this group of patients. Therefore, the aim of the present study was to determine the extent and types of drug administration errors in two paediatric wards and to identify measures t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1084-z
更新日期:2010-05-01 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:UNLABELLED:Patients diagnosed with intracranial teratoma are at risk for developing a recurrent malignant germ cell tumor. We describe a 14-year-old boy initially diagnosed with a mature teratoma in the pineal region that recurred as a metastatic beta-human chorionic gonadotropin (βHCG)-secreting germ cell tumor 3 year...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2282-x
更新日期:2014-08-01 00:00:00
abstract::An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy. After 4 months, liver function had dramatically improved, and the parameters characterizing copper metabolism had also normalized. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441526
更新日期:1989-06-01 00:00:00
abstract:UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00008442
更新日期:2001-06-01 00:00:00
abstract::Protein C deficiency can lead to cerebrovascular occlusive disease. We describe a patient in whom heterozygous protein C deficiency (type 1) is suspected on the grounds of reduced protein C activity and who suffered from multiple thrombo-embolic events involving the brain and peripheral organs. The patient developed h...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959356
更新日期:1992-06-01 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
pub_type: 杂志文章
doi:10.1007/s004310051233
更新日期:1999-11-01 00:00:00
abstract::Twenty-eight children whose parents reported sleep apnoea were investigated. In 15 infants apnoeic periods during sleep could be confirmed during clinical observation. Ventilatory responses to CO2 were measured in all infants, in 23 during sleep in 5 only when awake. A very wide range of CO2 sensitivities was found. I...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496030
更新日期:1986-04-01 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
doi:10.1007/s00431-005-1634-y
更新日期:2005-06-01 00:00:00
abstract::A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findi...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01959398
更新日期:1990-04-01 00:00:00
abstract::Vitamin D is important for calcium homeostasis, muscle, and bone health. It has also immunomodulatory capacities in vivo and in vitro. Regulatory T cells (Treg) have been found to suppress a number of T cell-mediated immune disorders, including allergic responses and autoimmune diseases. This study aimed to investigat...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1688-6
更新日期:2012-08-01 00:00:00
abstract:UNLABELLED:Our aim was to determine whether the chest radiograph appearance at 7 days predicted chronic lung disease development (oxygen dependency at 36 weeks post-menstrual age) or death before discharge and if it was a better predictor than readily available clinical data. Two consecutive studies were performed. In ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1332-6
更新日期:2004-01-01 00:00:00
abstract::Paediatric ambulatory healthcare systems in Europe are, because of historical reasons, diverse and show strikingly different outcomes. All across Europe, the benchmarking of structures, processes and outcomes could reveal opportunities for improving Paediatric Primary Care (PPC). The aim of this study was to develop a...
journal_title:European journal of pediatrics
pub_type: 共识发展会议,杂志文章
doi:10.1007/s00431-018-3140-z
更新日期:2018-06-01 00:00:00
abstract::A case of subacute meningitis caused by Brucella mellitensis is described. The meningitis was refractory to an antibiotic regime. Diagnosis was established by raised antibody titres to Brucella in serum and cerebrospinal fluid (CSF) and positive bone marrow and blood cultures. While treatment with tetracycline trimeth...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445917
更新日期:1988-11-01 00:00:00
abstract::The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2172-7
更新日期:2014-05-01 00:00:00
abstract::Adolescence obesity and depression are increasingly prevalent and are associated with various health complications. The aim of this study was to examine the association between weight status (normal weight, overweight, and obese) and depressive symptoms in adolescents and to explore the probable mediators, including o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1753-1
更新日期:2012-08-01 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::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
pub_type: 杂志文章
doi:10.1007/s00431-017-2855-6
更新日期:2017-04-01 00:00:00
abstract::A case of neonatal suppurative parotitis due to Klebsiella pneumoniae is described. This is the first case reported in the last 20 years. Infection with unusual microorganisms should be taken into account when planning antibiotic treatment, especially in hospital acquired infections of the salivary glands in the newbo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957226
更新日期:1993-12-01 00:00:00
abstract:UNLABELLED:A 9-year-old boy lost almost all his small bowel after an acute volvulus due to a congenital, but previously unsuspected malrotation. Survival using total parenteral nutrition is possible in these cases, but the medical burden is heavy. Small intestinal transplantation was performed for the first time in the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1294-8
更新日期:2003-11-01 00:00:00
abstract:UNLABELLED:Infection is a well recognised cause of spontaneous early preterm labour. Preterm labour of infective aetiology is refractory to the use of tocolytic agents and affected women have a higher risk of subsequent chorio-amnionitis and neonatal infection. Antibiotics used prophylactically for the prevention of pr...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014313
更新日期:1999-12-01 00:00:00
abstract::The incidence of urolithiasis in children is increasing. Adequate knowledge of treatment modalities and surgical options is therefore essential for every pediatrician. Surgical approaches to urolithiasis in children continue to evolve with advancements in technology and sophistication of current equipment and techniqu...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-010-1373-6
更新日期:2011-06-01 00:00:00
abstract::A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-h...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958432
更新日期:1991-05-01 00:00:00
abstract::Serum immunoreactive erythropoietin (siEPO) was determined in cord serum from neonates (n = 97, gestational age 36-43 weeks), in healthy children from birth to adolescence (n = 260) and in children with haematological (n = 30), renal (n = 10) and congenital heart diseases (n = 70). In healthy children siEPO levels dec...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959395
更新日期:1990-04-01 00:00:00