Abstract:
UNLABELLED:Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular genetic testing. Their age at the time of diagnosis in mild SLOS (n = 4, clinical score <20) was 0.5-18 years, cholesterol was 2.37 ± 0.8 mmol/L, and 7DHC was 0.38 ± 0.14 mmol/L. In the group of typical SLOS (n = 7, score 20-50), the diagnosis was set up earlier (age of 0.1-7 years); t-cholesterol was 1.47 ± 0.7 mmol/L, and 7DHC was 0.53 ± 0.20 mmol/L. Patients with severe SLOS (n = 4, clinical score > 50) died as newborns and had the lowest t-cholesterol (0.66 ± 0.27 mmol/L), and 7DHC was 0.47 ± 0.14 mmol/L. Correlation coefficient with clinical severity was 0.74 for initial t-cholesterol and 0.669 for Cho/7DHC. Statistically significant difference was between the initial t-cholesterol of mild and severe SLOS (p = 0.01), and between the Cho/7DHC ratios of groups (p = 0.004). In severe SLOS, the percentage of α-lipoprotein was significantly lower than in typical (p = 0.003) and mild SLOS (p = 0.004). Although serum albumin, total bilirubin, and hemostasis parameters remained in the reference range during cholesterol supplementation (n = 10) combined with statin therapy (n = 9), increase of aspartate aminotransferase and alanine aminotransferase in 50 % of the patients probably refers to a reversible alteration of liver function; therefore, statin therapy was suspended. CONCLUSION:life expectancy is fundamentally determined by the initial t-cholesterol, but dehydrocholesterol and α-lipoprotein have prognostic value. Accumulation of hepatotoxic DHC may inhibit the synthesis of α-lipoproteins, decreasing the reverse cholesterol transport. During statin therapy, we suggest monitoring of lipid parameters and liver function.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Oláh AV,Szabó GP,Varga J,Balogh L,Csábi G,Csákváry V,Erwa W,Balogh Idoi
10.1007/s00431-012-1925-zsubject
Has Abstractpub_date
2013-05-01 00:00:00pages
623-30issue
5eissn
0340-6199issn
1432-1076journal_volume
172pub_type
杂志文章abstract:INTRODUCTION:IgE-dependent activation of mast cells and basophils through the high-affinity IgE receptor (Fc(epsilon)R1) is involved in the pathogenesis of allergen-induced immune responsiveness in atopic disease including bronchial asthma. MATERIALS AND METHODS:We genotyped 650 children for allelic determinants at tw...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-0960-x
更新日期:2009-12-01 00:00:00
abstract::In recent years, a more stable AVP surrogate, called copeptin, has been used as an adjuvant diagnostic tool for dysnatremia in adults and appears to be promising even in the pediatric age. The aim of this study is to present the distribution of plasma copeptin in a large pediatric cohort and to observe the influence o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03777-3
更新日期:2021-01-01 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::A case of painful bilateral hip effusions resolving spontaneously in the diuretic phase of steroid responsive nephrotic syndrome in a 6-year-old girl is reported. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02072499
更新日期:1993-02-01 00:00:00
abstract:UNLABELLED:Varicella-related neurological complications usually appear after the rash. Pre-eruptive neurological complications of primary varicella zoster virus infections have been rarely described. We report on a 5.5-year-old boy who developed encephalitis 4 days before the onset of a mild vesicular skin rash and 5 d...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050942
更新日期:1998-10-01 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:UNLABELLED:Sublingual immunotherapy (SLIT) is the only therapeutic option for allergic rhinitis (AR) that modifies the immunological process to an allergen, rather than treating symptoms simply. However, its regulatory mechanisms are largely unknown. B-cell-activating factor of the TNF family (BAFF) plays very importan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2287-5
更新日期:2014-08-01 00:00:00
abstract::Although they account for a small proportion of burns in paediatrics, injuries from chemicals can be just as devastating as other mechanisms of burn injury. At least 25,000 chemicals exist which can cause burns: in children, they are often caused by household chemicals via accidental exposure. The mechanism by which c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03905-z
更新日期:2021-01-06 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
abstract::The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03348-1
更新日期:2019-05-01 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:UNLABELLED:Periventricular leucomalacia is a condition that causes lifelong disability and considerable economic burden. It occurs in premature infants of less than 32 weeks gestation due to their unique anatomical features. The white matter of these infants is poorly vascularised and contains oligodendrocyte progenito...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-004-1477-y
更新日期:2004-08-01 00:00:00
abstract::We evaluated, both in toilet-trained and not-toilet-trained children, the impact of cleaning the genital area with plain water on the false positive rate at urine dipstick, and evaluated which factors could be associated to falsely positive findings. We prospectively enrolled 612 patients consecutively attending our n...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3215-x
更新日期:2018-10-01 00:00:00
abstract:UNLABELLED:The aim of this study was to obtain comprehensive data on clinical presentation, microbiology, computed tomography, surgical findings and histology in acute, sub-acute and chronic mastoiditis. We performed a prospective, observational study in children under 16 years of age presenting to our institution duri...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0549-1
更新日期:2008-05-01 00:00:00
abstract:UNLABELLED:Disseminated atypical mycobacterium infection is essentially reported in cellular immunodeficient children. Cell-mediated immunity including cytokines like tumour necrosis factor alpha (TNF) and gamma interferon (IFN) is the most important factor allowing control of the dissemination of Mycobacterium. We rep...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050583
更新日期:1997-03-01 00:00:00
abstract:UNLABELLED:Lymphocytic hypophysitis is a rare disorder predominantly affecting females during the antepartum or postpartum period. It is characterized by destruction and lymphocytic infiltration of the pituitary gland, probably by an autoimmune process, leading to a pituitary mass lesion and/or various degrees of hypop...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310050690
更新日期:1997-09-01 00:00:00
abstract::A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445607
更新日期:1978-07-19 00:00:00
abstract:OVERVIEW:In newborns with symptomatic congenital cytomegalovirus (CMV) infection, neuroimaging is the best available predictor of neurodevelopmental outcome. Cerebrospinal fluid (CSF) findings in congenital CMV infection have seldom been described. Neonates with central nervous system infections present high CSF Beta(2...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0160-x
更新日期:2006-09-01 00:00:00
abstract:UNLABELLED:Increased plasma tumour necrosis factor alpha (TNF) concentration correlates with mortality in sepsis. We suggested that pentoxifylline (PTXF), which is known to inhibit TNF production, may improve survival and attenuate clinical symptoms of sepsis in neonates. Plasma TNF levels were evaluated in 29 newborn ...
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/BF01955273
更新日期:1996-05-01 00:00:00
abstract:UNLABELLED:Reports on schistosomiasis in children growing up in Europe are rare despite increased travel activity. We report on eight male and three female German children aged 50 months to 15 years with schistosomiasis. Six children were asymptomatic, whereas two presented with typical signs of Katayama fever. Persist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051326
更新日期:2000-07-01 00:00:00
abstract:UNLABELLED:Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02532526
更新日期:1996-12-01 00:00:00
abstract:UNLABELLED:A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1135-1
更新日期:2003-04-01 00:00:00
abstract::The effects of laryngoscopy and tracheal intubation on cerebral and systemic haemodynamics were studied in 30 children. The objective was to identify conditions in which the alterations of cerebral and systemic haemodynamics were minimal. The children were intubated after muscular relaxation and following 10 min of me...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957527
更新日期:1993-11-01 00:00:00
abstract::The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0464-5
更新日期:2008-02-01 00:00:00
abstract::The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was fo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442688
更新日期:1988-04-01 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: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::Continuous negative extrathoracic pressure (CNEP) has been recently reintroduced as therapy for respiratory failure. To determine its effects on cardiac output a pilot study was performed in ten patients aged 2 months-3 years (median 4 months). All had chronic respiratory failure (seven with bronchopulmonary dysplasia...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01954088
更新日期:1993-07-01 00:00:00
abstract:UNLABELLED:Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and m...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1771-z
更新日期:2013-04-01 00:00:00
abstract::The aim of this study was to evaluate the feasibility of clinical application of infrared thermography (IRT) in the pediatric population and to identify pathological states that can be diagnosed as well as followed up using this non-invasive technique. In real time computer-assisted IRT, 483 examinations were performe...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0583-z
更新日期:2008-07-01 00:00:00