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 families with Roberts syndrome are discussed.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Zimmer EZ,Taub E,Sova Y,Divon MY,Pery M,Peretz BAdoi
10.1007/BF00441792subject
Has Abstractpub_date
1985-11-01 00:00:00pages
412-4issue
4eissn
0340-6199issn
1432-1076journal_volume
144pub_type
杂志文章abstract:: ...
journal_title:European journal of pediatrics
pub_type: 评论,信件
doi:10.1007/s00431-018-3252-5
更新日期:2019-01-01 00:00:00
abstract::Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in ado...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03651-2
更新日期:2020-10-01 00:00:00
abstract::In pediatric diabetes, insulin pump therapy is associated with less acute complications but inpatient pump education may lead to more hospital days. We investigated the number of hospital days associated with pump vs. injection therapy between 2009 and 2018 in 48,756 patients with type 1 diabetes < 20 years of age fro...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03883-2
更新日期:2021-02-01 00:00:00
abstract:UNLABELLED:An isolated eosinophilic granuloma involving the posterior elements of a lumbar vertebra is reported in a 3-year-old boy presenting with progressive limp. Radiological investigations revealed osteolysis of the L5 right pedicle. MRI showed a well-defined homogeneous mass with nonspecific signal intensity. An ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051097
更新日期:1999-05-01 00:00:00
abstract::We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441586
更新日期:1980-03-01 00:00:00
abstract::An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441580
更新日期:1980-03-01 00:00:00
abstract:UNLABELLED:We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00008368
更新日期:2000-12-01 00:00:00
abstract::The correlation between the appearance of functionally-atypical factor VII and perinatal complications was investigated in 66 newborn infants. The presence of an abnormal clotting factor was assumed if the ratio between clotting activity and antigen-related factor VII material exceeded the normal range for adult plasm...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00493570
更新日期:1977-08-12 00:00:00
abstract::This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of beta zero-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive inc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02093721
更新日期:1991-04-01 00:00:00
abstract:UNLABELLED:Group A streptococcal (GAS) infection is the most common cause of bacterial pharyngitis and has an important role in the pathogenesis of post-infective phenomena including rheumatic fever and glomerulonephritis. Mortality from GAS is uncommon, particularly in the paediatric population. Toxic shock syndrome r...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1032-7
更新日期:2002-09-01 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::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:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1668-1
更新日期:2005-07-01 00:00:00
abstract::Local control of the primary tumour is a fundamental requirement for clinical cure. Towards this aim, the primary tumour must be diagnosed early and identified histologically. The size, extension, and spread within the patient must be defined precisely. In planning effective local therapy, additional questions must be...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00451896
更新日期:1985-07-01 00:00:00
abstract::Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957752
更新日期:1992-07-01 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::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 f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1012-y
更新日期:2002-10-01 00:00:00
abstract::In a prospective study elastase alpha 1-proteinase inhibitor (E alpha 1PI), polymorphonuclear (PMN) count, the immature to total neutrophil count ratio (I/T ratio), and C-reactive protein (CRP) were analysed in 74 patients (76 cases) with neonatal septicaemia at the time of initial clinical symptoms. At that early sta...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02113257
更新日期:1992-05-01 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:The true burden of influenza in children is difficult to assess and is probably underestimated as clinical signs are usually nonspecific, and formal viral identification is rarely searched. In this study, we compare the clinical features of infections related to the new H1N1/09 influenza virus with infection...
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
abstract::DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01956742
更新日期:1993-04-01 00:00:00
abstract::West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant durat...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-012-1813-6
更新日期:2012-11-01 00:00:00
abstract:UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050810
更新日期:1998-04-01 00:00:00
abstract::Factor VIII procoagulant activity and factor VIII related antigen were examined in 20 full-term and preterm newborn infants during the first days of life. The control group involved 15 adults volunteers. Factor VIII activity was estimated by a one-stage test and factor VIII related antigen was determined by immunelect...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445613
更新日期:1978-07-19 00:00:00
abstract::Two patients developed clinical features of intracranial bleeding--which were confirmed by computerized axial tomograms--during their induction therapy for acute lymphocytic leukemia. Coagulation studies showed clotting abnormalities including severe hypofibrinogenemia. These findings most probably were related to the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443266
更新日期:1981-11-01 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::Since traction-associated hypertension seems to be a relatively unknown phenomenon, a survey was done of its incidence in children treated with skeletal traction for fractures and orthopaedic diseases. The correlation with hypercalcaemia, a possible aetiological factor, was also explored. Blood pressure was recorded t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957765
更新日期:1992-07-01 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::This randomized double-blind placebo-controlled trial evaluated the effects of early postnatal oral vitamin A supplementation (VAS) in 196 inborn very-low birth weight (VLBW) infants requiring respiratory support at 24 h of age. Eligible infants were randomized to receive aqueous syrup of vitamin A (10,000 IU of retin...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-019-03412-w
更新日期:2019-08-01 00:00:00
abstract::Growth hormone (GH) responses to GRF (1 microgram/kg BW i.v.) were investigated. Comparison between GRF(1-40) and GRF(1-29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1-29)NH2. The maximal GH levels (max GH)...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02429048
更新日期:1986-12-01 00:00:00