Abstract:
:A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. Sequencing of the GATA-2 cDNA revealed the heterozygous missense mutation 1187 G > A. This mutation resulted in the amino acid mutation Arg396Gln in the zinc fingers-2 domain, which is predicted to cause significant structural change and prevent a critical interaction with DNA. Functional analysis of the patient's GATA-2 mutation is required to understand the relationship between these distinctive syndromes.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Ishida H,Imai K,Honma K,Tamura S,Imamura T,Ito M,Nonoyama Sdoi
10.1007/s00431-012-1715-7subject
Has Abstractpub_date
2012-08-01 00:00:00pages
1273-6issue
8eissn
0340-6199issn
1432-1076journal_volume
171pub_type
杂志文章abstract:UNLABELLED:This study compared the foot morphology of Spanish schoolchildren based on their body mass index and age and analyzed whether body mass index affects the child's foot development at primary school. Cross-sectional study of 1,032 schoolchildren (497 boys and 535 girls), 6-12 years old. Height and weight were ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1944-4
更新日期:2013-05-01 00:00:00
abstract:UNLABELLED:Methanol poisoning is not frequently observed in children; however, without treatment, serious intoxication can be complicated by visual impairment, coma, metabolic acidosis, respiratory and circulatory insufficiency and death. Treatment in a paediatric intensive care is therefore compulsory. Methanol is met...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-004-1588-5
更新日期:2005-03-01 00:00:00
abstract:UNLABELLED:Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already be...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1785-6
更新日期:2013-02-01 00:00:00
abstract::Rhabdomyolysis induced acute renal failure (ARF) is relatively rare in children. We report an 8-year-old boy with McArdle disease and rhabdomyolysis induced ARF after heavy muscle work. Physical examination revealed generalized tenderness on his extremities. Laboratory examinations showed acute renal failure due to my...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0591-z
更新日期:2008-08-01 00:00:00
abstract::Monocytes play an essential role in cellular host defense as circulating phagocytes, as well as precursors of macrophages. We investigated the principal phagocytic activities in monocytes from cord blood of term infants by analysing adherence, random migration, chemotaxis, bactericidal activity, phagocytosis-associate...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00439252
更新日期:1986-10-01 00:00:00
abstract:UNLABELLED:The surgical approach to the inguinal canal in girls is identical to that in boys. The sliding hernia which contains the ovary with or without the fallopian tube occurs occasionally in female patients. In our clinical experience, we found that a hydrocele in the labium, also presenting with an asymptomatic p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1226-7
更新日期:2003-07-01 00:00:00
abstract::Eight patients with the syndrome of benign paroxysmal vertigo of childhood are presented. This symptom complex is characterized by attacks of vertigo in young children combined with nystagmus, ataxia and transiently decreased vestibular function, but without impaired consciousness. Diagnostic and follow-up studies rev...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01846035
更新日期:1980-08-01 00:00:00
abstract:UNLABELLED:Blood transfusion increases blood volume and blood viscosity of the neonate. Since both volume expansion and increase in blood viscosity may be associated with increased pulmonary artery pressure, we studied effects of transfusion (10 ml of red blood cells per kilogramme of body weight) on right ventricular ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050661
更新日期:1997-07-01 00:00:00
abstract::Two matched groups of term newborn infants with idiopathic jaundice were subjected to intensive double direction green or blue light phototherapy (PT). The efficacy of treatment was expressed as rate of decline of serum bilirubin concentration after 6, 12 and 24 h of light exposure. More rapid response was obtained us...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF01955530
更新日期:1991-02-01 00:00:00
abstract::High food quality, together with adequate macro- and micronutrient intake in pregnancy, is crucial for the health status of the mother and child. Recent findings suggest that it could also be beneficial or harmful in the context of the well-being of the whole future population. According to the developmental origins o...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-3026-5
更新日期:2017-12-01 00:00:00
abstract::We compared epinephrine and dopamine as a first-line vasoactive drug in 40 neonates (enrolled in two gestational age strata ≤ 306/7 and ≥ 310/7 weeks) with fluid-refractory septic shock. Epinephrine or dopamine was initiated at 0.2 or 10 μg/kg/min, respectively. If shock persisted after 15 min, epinephrine or dopamine...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-018-3195-x
更新日期:2018-09-01 00:00:00
abstract::Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We re...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1298-0
更新日期:2011-01-01 00:00:00
abstract::A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442347
更新日期:1979-02-08 00:00:00
abstract::Kawasaki disease (KD) is associated with coronary artery injury. Studies have shown that the endothelial progenitor cell (EPC) participates in the process of arterial repair. Data have been reported that the number of EPC increased significantly in the subacute phase of KD. However, until now, there are no data about ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1014-0
更新日期:2010-03-01 00:00:00
abstract:UNLABELLED:Self-medication is a common event. To use drugs correctly, a basic knowledge about drugs is required. Poor data are available about adults' drug knowledge. Furthermore, adolescents' basic drug knowledge has not been investigated. This study was designed in order to explore adolescents' drug use and knowledge...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000503
更新日期:2000-08-01 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::We addressed growth of biliary atresia (BA) patients living with native livers between ages 0-6 and effects of post-surgical corticosteroid treatment on growth. Growth charts of 28 BA patients born in Finland between 1987 and 2017 were retrospectively evaluated. Dosage and length of corticosteroid treatment and hydroc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3302-z
更新日期:2019-03-01 00:00:00
abstract:UNLABELLED:The first live-attenuated Oka strain varicella vaccines needed to be stored at -20 degrees C. Reformulation of this vaccine by SmithKline Beecham Biologicals has provided a vaccine shelf life of up to 2 years when stored at +4 degrees C to +8 degrees C. In this study the immunogenicity and reactogenicity of ...
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/BF01957158
更新日期:1996-08-01 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::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:Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00013814
更新日期:2000-01-01 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:UNLABELLED:A suprasellar arachnoid cyst may cause disorders of growth, puberty and hypothalamic-pituitary function, due to the proximity of the cyst to the hypothalamic-pituitary area. A total of 30 patients (17 boys) with cyst diagnosed at 4.3 +/- 1 years were routinely evaluated at 5.4 +/- 1 years; 24 of them had one...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051285
更新日期:2000-05-01 00:00:00
abstract::Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03572-0
更新日期:2020-08-01 00:00:00
abstract::This study assessed the agreement between arterial and venous blood lactate and pH levels in children with sepsis. This retrospective, three-year study involved 60 PICU patients, with data collected from electronic or paper patient records. The inclusion criteria comprised of children (≤17 years old) with sepsis and t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2925-9
更新日期:2017-08-01 00:00:00
abstract::A combination of humoral immunodeficiency and isolated growth hormone deficiency was observed in a girl with Mulibrey nanism. The humoral immunodeficiency consisted of subnormal concentration of serum IgG, in particular IgG2 and IgG4, and low concentration of serum IgM. Serum IgA and IgD were elevated, IgE was absent....
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955061
更新日期:1993-06-01 00:00:00
abstract::Acute pharyngitis is one of the most frequent causes of primary care physician visits; however, there is no agreement about which is the best strategy to diagnose and manage acute pharyngitis in children. The aim of the current study was to evaluate the cost-effectiveness of the recommended strategies to diagnose and ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1410-0
更新日期:2011-08-01 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
abstract::Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 19...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1222-7
更新日期:2010-11-01 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