Abstract:
UNLABELLED:Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CCD. We investigated a mother and daughter with features of CCD presenting with reduced plasma alkaline phosphatase activity, increased urinary phosphoethanolamine excretion and decreased bone density. The latter findings were suggestive of hypophophatasia but mutation analysis showed no mutation in the tissue-nonspecific alkaline phosphatase gene (TNSALP; MIM 171760). However, a heterozygous mutation (Arg169Pro caused by nucleotide change 506G > C) was detected in the RUNX2 gene. Metabolic alterations gradually improved in both mother and daughter but bone-specific alkaline phosphatase remained low (less than 30% of normal) and mild phosphoethanolaminuria persisted. Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone. CONCLUSION:we suggest that the observed metabolic alterations are secondary to the RUNX2 gene mutation affecting early bone maturation and turnover. This is the first description of biochemical findings of hypophosphatasia in patients with cleidocranial dysplasia.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Morava E,Kárteszi J,Weisenbach J,Caliebe A,Mundlos S,Méhes Kdoi
10.1007/s00431-002-0977-xkeywords:
subject
Has Abstractpub_date
2002-11-01 00:00:00pages
619-22issue
11eissn
0340-6199issn
1432-1076journal_volume
161pub_type
杂志文章abstract::We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958427
更新日期:1991-05-01 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 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::Serum immunoglobulin levels and naturally occurring antibody titres against Streptococcus pneumoniae were measured in seven children aged 1-1.9 years with recurrent pneumococcal acute otitis media (AOM). Three of them had low IgG2 levels. Mean antibody levels of anti-pneumococcal IgG1 and anti-pneumococcal IgG2 were s...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958979
更新日期:1994-03-01 00:00:00
abstract::Surfactant-associated protein (SP-A) was measured in tracheal aspirates of ventilated infants with (n = 51) and without (n = 21) respiratory distress syndrome (RDS). SP-A concentrations in samples collected after birth were significantly lower in RDS than in infants ventilated for other reasons than RDS (median 0.03 v...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957730
更新日期:1992-08-01 00:00:00
abstract::Early diagnosis and treatment of phenylketonuria (PKU) in Poland was started in 1965, initially on a voluntary and then on a obligatory basis. Guthrie tests have been used for newborn screening. For confirmation of diagnosis changing with time methods of blood phenylalanine (Phe) and tyrosine estimation were used. In ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00014250
更新日期:1996-07-01 00:00:00
abstract::Arterial hypertension in childhood is less frequent as compared to adulthood but is more likely to be secondary to an underlying disorder. After ruling out more obvious causes, some patients still present with strongly suspected secondary hypertension of yet unknown etiology. A number of these children have hypertensi...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1440-7
更新日期:2012-10-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01972894
更新日期:1994-11-01 00:00:00
abstract::A South African family with autosomal dominant split hand, split foot (SHSF) malformation has been studied. The pedigree was unusual in that three unaffected siblings with normal parents had each produced affected offspring. New mutation, germinal mosaicism and autosomal recessive inheritance are unlikely. Possible ex...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442225
更新日期:1988-02-01 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::The development of visual acuity and stereopsis was studied in 321 boys and 340 girls aged between 5 and 10 years. Visual acuity was assessed by the E test and a modified version of the STYCAR test, stereo acuity by the Lang-Stereo test [17]. Both vision tests showed an increase in the median visual acuity between the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02429046
更新日期:1986-12-01 00:00:00
abstract::We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) with suspected hypogonadism. All subjects received a single injection of hCG (5000 U/1.7 m2) and 1 month later,...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF01957499
更新日期:1995-11-01 00:00:00
abstract:UNLABELLED:We describe the case of a boy with steroid sensitive nephrotic syndrome and left pulmonary artery thrombo-embolism. clinical presentation initially suggested sepsis and respiratory signs were minor. Treatment with tissue plasminogen activator infused into the pulmonary artery was successful. CONCLUSION:Pulm...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050684
更新日期:1997-08-01 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:UNLABELLED:The severity and duration of immunosuppression caused by corticosteroids (CSs) usage have not been extensively studied. We aimed to investigate the effects of CSs on the various compartments of immune system in relation to timing of initiation and persistence of therapy. Pediatric patients with idiopathic ne...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-016-2694-x
更新日期:2016-05-01 00:00:00
abstract::We report two Chinese boys with Wiskott-Aldrich syndrome presenting with gastro-intestinal bleeding, eczema and recurrent infection. They had thrombocytopenia and the mean platelet volume was small. Serum IgG and IgA were elevated and lymphocyte proliferation in response to phytohaemagglutinin, concanavalin A and poke...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957573
更新日期:1992-09-01 00:00:00
abstract::The insulin-like growth factors (IGF-I and IGF-II) circulate bound to specific proteins. Two classes of binding proteins have been relatively well characterized differing in size, immunological activity, and physiological function. This review summarizes the more recent data on IGF-binding proteins, focusing on their ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01995850
更新日期:1989-11-01 00:00:00
abstract::The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1965-z
更新日期:2013-06-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-006-0220-2
更新日期:2007-03-01 00:00:00
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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
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3246-3
更新日期:2019-01-01 00:00:00
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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
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496996
更新日期:1978-06-20 00:00:00
abstract:UNLABELLED:We describe the case of a 6-year-old girl brought to the emergency department for the sudden onset of anticholinergic syndrome after the ingestion of a few home-made partially debittered lupine beans. She complained of blurry vision, headache, photophobia and nausea. No specific treatment was needed, and the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2088-2
更新日期:2014-12-01 00:00:00
abstract::The study material consisted of 251 newborn light-treated infants with rhesus haemolytic disease (RHD) caused by anti-D. 139 infants were treated with ordinary phototherapy (white single light) and 112 infants with intensive phototherapy (blue double light). An evaluation was made as to wheter the indications for earl...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444752
更新日期:1980-01-01 00:00:00
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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:UNLABELLED:Children with a painful hip present a diagnostic challenge since clinical differentiation between septic arthritis, transient synovitis and Perthes disease may be difficult. Septic arthritis, a potentially life-threatening and debilitating medical emergency, requires early recognition for successful treatmen...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051243
更新日期:1999-11-01 00:00:00
abstract::Urinary tract infection (UTI) is a common cause of sepsis in infants. Premature infants hospitalized at a neonatal intensive care unit often have risk factors for infection. In this group, the risk of UTI is not clearly known, and guidelines for urine analysis are not unanimous. We aimed to identify the risk of UTI in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3030-9
更新日期:2018-01-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0105-4
更新日期:2006-07-01 00:00:00
abstract::Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442300
更新日期:1985-03-01 00:00:00