Abstract:
UNLABELLED:Biochemical and molecular genetic studies were performed on the enzyme variants of two patients compound heterozygous for glucose phosphate isomerase (GPI) deficiency, both suffering from severe haemolytic anaemia. The enzymes of case 1 (GPI 'Zwickau') and case 2 (GPI 'Nordhorn' [25]), revealed reduced GPI activity and remarkable thermolability. Glucose-6-phosphate (Gluc-6-P) concentration was elevated 2.3 times in case 1 and 3.8 times in case 2. Sequencing the patients' GPI genes showed four different point mutations, two of them involving highly conserved amino acids. The c1039 C-->T substitution, found in the gene of GPI 'Zwickau', has been described recently [30] and causes an Arg 347-->Cys substitution close to the putative catalytic site. The second mutation in this case is a novel c1538 G-->A substitution causing a Trp-->stop mutation at position 513 apparently resulting in premature RNA degradation thus resulting either in a complete lack of protein or a protein which does not show GPI activity. In the gene of GPI 'Nordhorn' a c1028 A-->G mutation was discovered, also previously described [1, 9] causing a Gln 343-->Trp substitution. The second mutation was a novel splice site mutation at the border of intron 15 to exon 16: IVS15-(-2) A-->C which leads to an aberrant splicing of exon 16, thus resulting either in a truncated and most likely inactive enzyme or in no protein at all. CONCLUSION:Biochemical and molecular genetic studies performed with the enzyme variants GPI 'Zwickau' and GPI 'Nordhorn' showed that in both cases the simultaneous occurrence of a single amino acid substitution affecting the active site, together with a nonsense mutation leading to the loss of major parts of the enzyme probably explains the severe clinical course of the disease.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Huppke P,Wünsch D,Pekrun A,Kind R,Winkler H,Schröter W,Lakomek Mdoi
10.1007/s004310050674subject
Has Abstractpub_date
1997-08-01 00:00:00pages
605-9issue
8eissn
0340-6199issn
1432-1076journal_volume
156pub_type
杂志文章abstract::Acid-base disturbances have been usually evaluated with the traditional Henderson-Hasselbach method and Stewart's physiochemical approach by quantifying anions of tissue acids (TA). It is hypothesized that an increase in tissue acids during metabolic acidosis would cause a compensatory decrease in the plasma chloride ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1666-4
更新日期:2012-06-01 00:00:00
abstract::Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalizations in children aged < 2 years. The aim of this retrospective, single-centre study was to examine the characteristics of patients admitted to a paediatric intensive care unit (PICU) with RSV infection followin...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1376-3
更新日期:2011-07-01 00:00:00
abstract::Effective management of pain remains an important indicator of the quality of care provided to neonates. Since the review of McIntosh in this journal over a decade ago, an extensive number of papers on assessment, prevention, and treatment of pain have been reported. In addition, preclinical insights into neurodevelop...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-009-0932-1
更新日期:2009-07-01 00:00:00
abstract::Growth hormone (GH) secretion was determined by evaluating ultradian GH profiles for 12 h and GH responses to insulin stimulated hypoglycaemia (ITT) in 28 stunted boys with beta-thalassaemia major aged 15.2-17.4 years, who presented with pubertal failure (FP). Healthy non thalassaemia prepubertal boys (n = 10) aged 7....
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01953984
更新日期:1993-09-01 00:00:00
abstract:UNLABELLED:During puberty fat-free mass (FFM) and fat mass (FM) change quickly and these changes are influenced by sex and obesity. Since it is not completely known how these changes affect resting metabolic rate (RMR), the aim of the present study was to investigate the effect of body composition, age, sex and puberta...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050618
更新日期:1997-05-01 00:00:00
abstract::Pediatricians' job performance, work engagement, and job satisfaction are essential for both the individual physician and quality of care for their little patients and parents. Therefore, it is important to maintain or possibly augment pediatricians' individual and professional competencies. In this study, we develope...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-016-2777-8
更新日期:2016-12-01 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:UNLABELLED:Blueberry muffin lesions are associated with prenatal infections, severe and chronic anemia and neoplastic infiltrative diseases. In the first two instances they represent postnatal re-expression of cutaneous haematopoiesis, in the latter they are cutaneous localizations of a neoplastic disease. Chronic pren...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050970
更新日期:1998-11-01 00:00:00
abstract::Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diag...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1029-6
更新日期:2010-03-01 00:00:00
abstract::Despite rapidly evolving knowledge about COVID 19 infection, routes of perinatal COVID 19 transmission and viral load in mother neonate dyad remain uncertain. Data were analysed to describe the clinicodemographic profile and viral load in neonates born to COVID 19 positive mothers. Of 2947 deliveries, 69 mothers were ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03800-7
更新日期:2021-02-01 00:00:00
abstract::We report the 9-year follow-up of a patient suffering from N-acetylglutamate synthetase deficiency, an urea cycle disorder leading to severe neonatal hyperammonaemia. Hitherto two patients from two families with this inborn error of metabolism had been observed. Our management consisted mainly of a protein-restricted ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955939
更新日期:1991-03-01 00:00:00
abstract:UNLABELLED:Repeated invasive procedures occur routinely in neonates who require intensive care, causing pain at a time when it is developmentally unexpected. Multiple lines of evidence suggest that repeated and prolonged pain exposure alters their subsequent pain processing, long-term development, and behaviour. Primar...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-011-1655-7
更新日期:2012-06-01 00:00:00
abstract:UNLABELLED:To assess the efficacy of a serotonin re-uptake inhibitor, sertraline hydrochloride, in preventing recurrent neurocardiogenic syncope, we studied 15 patients (10 female; mean age 12.9 +/- 2 years) with positive head-upright tilt test and resistant to standard pharmacotherapy, atenolol or disopyramide. The pa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050704
更新日期:1997-10-01 00:00:00
abstract:UNLABELLED:Monitoring of therapy-related late effects after acute lymphoblastic leukaemia (ALL) therapy in childhood has become an increasingly important field in posttherapeutic patient surveillance. The usefulness of neurophysiological investigations (e.g. EEG, evoked potentials (EP)) as part of these attempts is con...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050700
更新日期:1997-09-01 00:00:00
abstract:UNLABELLED:A formerly premature, exclusively breast-fed infant with severe zinc deficiency syndrome is presented. He showed the characteristic erosive skin changes, including alopecia, as seen in acrodermatitis enteropathica. In addition, he manifested a failure to thrive and irritability. The diagnosis was confirmed b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01972977
更新日期:1995-01-01 00:00:00
abstract:UNLABELLED:Congenital hydrocephalus is a serious condition that can arise from multiple causes. It comprises a diverse group of conditions which result in impaired circulation and absorption of cerebrospinal fluid. Congenital malformations of the central nervous system, infections, haemorrhage, trauma, teratogens and, ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310050830
更新日期:1998-05-01 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::Indomethacin treatment for 1 week monitored by drug level determinations was evaluated in 32 preterm infants with symptomatic patent ductus arteriosus (sPDA). Inter- and intra-individual indomethacin dispositions varied considerably with the need for marked dosage adjustments to maintain the drug level within the prop...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02343219
更新日期:1987-03-01 00:00:00
abstract:UNLABELLED:Papillomas of the genital region are rare benign tumours causing sanguineous vaginal discharge in prepubertal girls. We report on a papilloma of the cervix in a 2-year-old girl. We characterize the tumour immunohistochemically and give a brief review about the current literature. CONCLUSION:Genital tract pa...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310050609
更新日期:1997-04-01 00:00:00
abstract::The involvement of minors in clinical research is inevitable to catch up with the lack of drugs labeled for pediatric use. To encourage the responsible conduct of pediatric clinical trials in the EU, an extensive legal framework has been developed over the past decade in which the practical, ethical, legal, social, an...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0915-7
更新日期:2009-10-01 00:00:00
abstract:UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1659-3
更新日期:2012-04-01 00:00:00
abstract::The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the surgery and post-operative follow-up on behalf of the intraoperative findings. A retrospective revi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3258-z
更新日期:2018-12-01 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::The risk factors for recurrent apparent life-threatening event (ALTE) are unclear although the risk of recurrent ALTE is an important consideration for the management of ALTE patients. This study aimed to identify the risk factors for recurrent ALTE. We conducted a secondary analysis of the data from a single center r...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2855-6
更新日期:2017-04-01 00:00:00
abstract::Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female mo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1497-3
更新日期:2012-01-01 00:00:00
abstract:UNLABELLED:A 15-year-old healthy girl ingested 38.25 g (0.55 g/kg body weight) of metformin in a suicide attempt. Subsequently she developed lactic acidosis and moderate renal failure. An initial session of haemodialysis was able to treat the acidosis and reduce the toxic level of metformin. Nevertheless, a further inc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1634-y
更新日期:2005-06-01 00:00:00
abstract::Positional plagiocephaly (PP) denotes flattening of the skull that occurs frequently in healthy infants. Aim of this study was to estimate the prevalence of positional plagiocephaly and to identify the risk factors in a cohort of healthy infants in order to help prevention of PP. In a prospective design, all healthy f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3212-0
更新日期:2018-10-01 00:00:00
abstract::Screening for coeliac disease (CD) with serum antigliadin antibodies (AGA) was performed in 1032 diabetic children and adolescents. In 8 children CD had been diagnosed before study entry. Of the remaining 1024 children, 33 had an elevated AGA titre in the first serum sample. On follow-up an elevated AGA titre was conf...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/BF00445915
更新日期:1988-11-01 00:00:00
abstract:UNLABELLED:Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with promi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050714
更新日期:1997-10-01 00:00:00
abstract:UNLABELLED:Endocrine dysfunction and damage of the epiphysial growth plates have been reported as late effects of antileukaemic treatment during childhood. It is a common opinion that cranial irradiation (CI) is the most important factor for blunted growth. Accordingly, recent therapeutic strategies in acute lymphoblas...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050599
更新日期:1997-04-01 00:00:00