Abstract:
:This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped. Three infants out of 242 may have had unrecognized CAH due to CYP21 (steroid 21-hydroxylase) gene defect. Their newborn 17-OHP levels and CYP21 genotypes were 706 nmol/l and del/conv//del/conv, 53 nmol/l and I2//I2, and 811 nmol/l and I2//Gln318stop, respectively. CAH due to CYP21 defect can lead to sudden unexpected death without prior symptoms typical for the condition. Hence, newborn screening would have prevented these deaths had it been available. In addition, we have shown that the I2 point mutation that is expected to lead to simple virilizing form may lead to a fatal outcome.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Strnadová KA,Votava F,Lebl J,Mühl A,Item C,Bodamer OA,Torresani T,Bouska I,Waldhauser F,Sperl Wdoi
10.1007/s00431-006-0154-8subject
Has Abstractpub_date
2007-01-01 00:00:00pages
1-4issue
1eissn
0340-6199issn
1432-1076journal_volume
166pub_type
杂志文章abstract::Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear po...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3068-8
更新日期:2018-03-01 00:00:00
abstract::Chronic hepatitis B virus infection is among the most common causes of chronic liver disease in children. The aim of this study was to document prospectively our experiences related to lamivudine and high-dose interferon-alpha2a combination in naïve, e antigen positive, chronic hepatitis B virus infection treatment in...
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
abstract:UNLABELLED:Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2616-3
更新日期:2016-02-01 00:00:00
abstract::A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-c...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442747
更新日期:1984-11-01 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:UNLABELLED:The aim of this paper was to systematically review the published evidence on the relationship between the type of childcare and risk of childhood overweight or obesity. The databases PubMed, MEDLINE, Cochrane Library and EMBASE were searched using combinations of the various search terms to identify eligible...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-016-2768-9
更新日期:2016-10-01 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::This was an uncontrolled, open-label follow up study of a previous 12-month, randomized, double-blind, placebo-controlled trial performed to assess the long-term efficacy and safety of Recombinant Human Interferon Gamma (rIFN-gamma) in patients with chronic granulomatous disease (CGD). In two centres, 28 patients (24 ...
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/BF01957365
更新日期:1995-04-01 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::We report four cases of acute idiopathic scrotal oedema, an underreported cause of acute painless or moderately painfull swelling and erythema of the scrotum in young boys. It is a self-limiting disease and to prevent unnecessary surgical exploration or antibiotic therapy, it is very important to distinguish acute idi...
journal_title:European journal of pediatrics
pub_type: 信件
doi:10.1007/s004310100771
更新日期:2001-07-01 00:00:00
abstract::The burden of community-acquired pneumonia (CAP) in high-income countries is still significant. The introduction of pneumococcal conjugate vaccines (PCV) has reduced the overall need for hospitalization for CAP. However, it is not clear whether children with underlying disease also have benefitted from the PCV immuniz...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-016-2843-2
更新日期:2017-03-01 00:00:00
abstract::Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associated with SDS. A retrospective study was conducted to describe mutation...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1908-0
更新日期:2013-05-01 00:00:00
abstract:UNLABELLED:Early recognition by newborn screening and oral biotin supplementation may prevent clinical and neurological deficits in profound biotinidase deficiency (residual plasma biotinidase activity <10%). In order to evaluate possible correlations of molecular characteristics, onset and continuation of treatment an...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1351-3
更新日期:2003-12-01 00:00:00
abstract::Exchange transfusion using a peripheral artery and vein was carried out 18 times in 17 newborn infants. The arteries use to withdraw blood were the radial [13], the ulnar [3] an the posterior tibial [2]. Infusion of blood was carried out simultaneously through a peripheral vein. There was no mortality or morbidity dir...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443258
更新日期:1981-11-01 00:00:00
abstract:BACKGROUND:The severity of childhood gastroenteritis is generally believed to be age-related rather than aetiology-related. Rotavirus-induced gastroenteritis is more severe than gastroenteritis caused by other enteric pathogens and is also age-related. We thus addressed the question of whether the increased severity of...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-006-0237-6
更新日期:2007-03-01 00:00:00
abstract::A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zell...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441774
更新日期:1985-11-01 00:00:00
abstract::Congenital syphilis is now rare in Australia, particularly in suburban areas. The disease is both preventable and treatable, however, missed or late diagnosis can lead to catastrophic effects. We report an infant who developed congenital syphilis after multiple opportunities for preventing this condition were missed. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-0050-7
更新日期:2006-05-01 00:00:00
abstract::We studied the clinical features, laboratory and thyroid functions and thyrotropin (TSH)-receptor and thyroid-stimulation antibodies in 21 patients with atrophic auto-immune thyroiditis (AAT) and 48 patients with goitrous auto-immune thyroiditis (GAT) of childhood onset. The clinical features of patient with AAT were ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957685
更新日期:1990-05-01 00:00:00
abstract::A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441934
更新日期:1977-03-18 00:00:00
abstract::We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optim...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1600-9
更新日期:2012-03-01 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
abstract:UNLABELLED:Severe head injuries in children (under 15 years of age) have many features that differentiate them from head injuries in adults. In such cases, non-surgical treatment cannot always prevent fatal herniation. We report on seven cases of children with severe head injury, presenting with decorticate posturing a...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-001-0864-x
更新日期:2002-02-01 00:00:00
abstract:UNLABELLED:Monitoring fat free mass (FFM), an indicator of nutritional status and a predictor of exercise performance in children, is particularly important in patients with cystic fibrosis (CF). We assessed validity of the skinfold method for measuring FFM, and its changes with exercise training, in children with CF. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051209
更新日期:1999-10-01 00:00:00
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::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::In 41 preterm neonates with a gestational age (GA) varying from 27 to 36 weeks, glomerular filtration rate (GFR) was measured by means of the continuous inulin infusion technique. The reliability of the technique was confirmed. During postnatal development GFR was found to increase in two ways: firstly, an increase wi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441807
更新日期:1988-10-01 00:00:00
abstract::Nineteen (12 male, 7 female) children, who have received craniospinal irradiation for the treatment of a brain tumour distant from the hypothalamic-pituitary axis, resulting in growth hormone (GH) deficiency (CS-PRGHD), have been treated with GH. Eight have completed growth. Comparison has been made with the growth of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442471
更新日期:1988-08-01 00:00:00
abstract::Chest radiographs from children with community-acquired pneumonia (CAP) were categorized into three distinct presentations and each presentation was correlated to clinical and laboratory findings. Children < 59 months with CAP presenting to pediatric emergency rooms during two years were enrolled prospectively in eigh...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00431-018-3165-3
更新日期:2018-07-01 00:00:00
abstract::The effect of intranasal LH-RH on cryptorchidism was investigated in 45 prepubertal boys with 68 undescended testes. A daily dose of 1.2 mg LH-RH was given for 4 weeks. A total of 16 testes (24%) descended. Follow-up examination 5 years later showed that relapse had occurred in two cases. Fifty-two testes did not desc...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF00452869
更新日期:1987-01-01 00:00:00
abstract::A 17-year-old patient suffering from Crohn disease (CD) and liver cirrhosis is presented. At an advanced stage of the disease, he died of a concomitant urosepsis. Autopsy showed that the liver cirrhosis was caused by sclerosing cholangitis. This very rare complication of CD in adolescence is discussed. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02072206
更新日期:1991-06-01 00:00:00