Abstract:
INTRODUCTION:Randomly estimated fasting hyperglycaemia in an asymptomatic individual may represent the first sign of pancreatic beta-cell dysfunction. OBJECTIVE:We aimed at specifying the genetic aetiology of asymptomatic hyperglycaemia in a cohort of children and adolescents. SUBJECTS AND METHODS:We analysed the aetiological diagnosis in 82 non-obese paediatric subjects (38 males) aged 0.2-18.5 years (median: 13.1) who were referred for elucidation of a randomly found blood glucose level above 5.5 mmol/l. In addition to fasting glycaemia and circulating levels of insulin and C-peptide, the subjects were tested by an oral glucose tolerance test and an intravenous glucose tolerance test and screened for mutations in the genes encoding glucokinase (GCK), HNF-1alpha (TCF1), Kir6.2 (KCNJ11) (if aged <2 years) and HNF-4alpha (HNF4A) (those with a positive family history of diabetes). RESULTS AND DISCUSSION:We identified 35 carriers of GCK mutations causing MODY2, two carriers of TCF1 mutations causing MODY3, one carrier of a HNF4A mutation causing MODY1 and one carrier of a KCNJ11 mutation causing permanent neonatal diabetes mellitus. Of the remaining patients, 11 progressed to type 1 diabetes mellitus (T1DM) and 9 had impaired glucose tolerance or diabetes mellitus of unknown origin. In 23 subjects, an impairment of blood glucose levels was not confirmed. We conclude that 39 of 82 paediatric patients (48%) with randomly found fasting hyperglycaemia suffered from single gene defect conditions, MODY2 being the most prevalent. An additional 11 patients (13%) progressed to overt T1DM. The aetiological diagnosis in asymptomatic hyperglycaemic children and adolescents is a clue to introducing an early and effective therapy or, in MODY2, to preventing any future extensive re-investigations.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Feigerlová E,Pruhová S,Dittertová L,Lebl J,Pinterová D,Kolostová K,Cerná M,Pedersen O,Hansen Tdoi
10.1007/s00431-006-0106-3subject
Has Abstractpub_date
2006-07-01 00:00:00pages
446-52issue
7eissn
0340-6199issn
1432-1076journal_volume
165pub_type
杂志文章abstract::Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal as long as no marked liver disease was present. Under these condition...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02073885
更新日期:1992-01-01 00:00:00
abstract::Health-related quality of life (HRQOL) is an important indicator of the burden of illness in moderate-to-severe plaque psoriasis. This study evaluated self-reported generic HRQOL among pediatric patients with moderate-to-severe plaque psoriasis based on pooled baseline clinical trial data and compared them to four com...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1587-2
更新日期:2012-03-01 00:00:00
abstract:UNLABELLED:Over the last few years, the importance of paediatric stroke has become more and more evident; however, there is still little known about long-term neurological and especially neuropsychological outcome of these children. By retrospective chart review, questionnaire and clinical examination with structured i...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1357-x
更新日期:2004-04-01 00:00:00
abstract:UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000652
更新日期:2001-02-01 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::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
abstract::Histochemical and immunohistochemical studies performed in only a few cases of sinus histiocytosis with massive lymphoadenopathy (SHML) indicated that SHML cells belong to the macrophage--histiocyte system, though their exact origin is still uncertain. We analyzed the morphological, antigenic and enzymatic characteris...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957571
更新日期:1992-09-01 00:00:00
abstract::The time of cord clamping in intrauterine growth-restricted (IUGR) neonates remains an area of uncertainty. This assessor-blinded randomized controlled trial compared the effects of delayed cord clamping (DCC) with early cord clamping (ECC) on the systemic blood flow (SBF) and cerebral hemodynamics in IUGR neonates of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-021-03959-7
更新日期:2021-01-21 00:00:00
abstract::To compare the efficacy of low dose fentanyl infusion and 24% oral sucrose in providing optimal pain relief during laser for retinopathy of prematurity (ROP), we enrolled fifty-eight spontaneously breathing preterm infants undergoing laser. The preterm infants were randomized to either fentanyl infusion (1 mcg/kg/hr) ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-019-03514-5
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Human immunodeficiency virus type 1 (HIV-1) infected children treated with highly active antiretroviral therapy (HAART) may develop a significant reduction of plasma viremia associated with an increase in CD4+ T-cell counts. Functional capacity of this reconstituted immune system in response to recall antige...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0184-2
更新日期:2007-01-01 00:00:00
abstract::Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1869-3
更新日期:2013-02-01 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 main ethical imperative of all paediatric actions is the demand to do everything "in the best interests of children". Relevant guidelines can be derived from the UN Declaration on the Rights of Children, whereupon every child has the fundamental right to life and dignity, and is entitled to optimal medical care. P...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-0002-2
更新日期:2006-02-01 00:00:00
abstract::Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory cytokine-related disorder associated with overproduction of interleukin (IL)-6, IL-1β, and IL-18. Macrophage activation syndrome (MAS) is a critical and lethal complication of sJIA. Therefore, prompt induction of remission in the active phase of sJIA is ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2093-5
更新日期:2014-12-01 00:00:00
abstract::This was a retrospective study documenting all pacemaker implantations (PMIs) secondary to postoperative atrioventricular block. A total of 26 patients were included between 2011 and 2020. The incidence rate was 1.8%, with a median follow-up time of 4.5 years. At the time of the initial PMI, the median weight was 5 kg...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03739-9
更新日期:2020-12-01 00:00:00
abstract::Iron deficiency is frequently associated with anemia. Iron is a transition-metal ion, and it can induce free radical formation, which leads to formation of various lesions in DNA, proteins, and lipids. The aim of this study was to investigate baseline oxidative DNA damage and to clarify the role of the administration ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1147-1
更新日期:2010-08-01 00:00:00
abstract:UNLABELLED:Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%-75% of affected adults, according to the population studied, and from those report...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-002-1002-0
更新日期:2002-10-01 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:UNLABELLED:Improved surgical care during the last decades, together with advances in medical management, led to a remarkable increase in survival of patients with congenital heart disease (CHD). However, aging of the CHD population brings new challenges, and loss of follow-up of adolescents and adults with CHD is a maj...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-015-2557-x
更新日期:2015-07-01 00:00:00
abstract::Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with Poland syndrome, a common malformation characterized by unilateral hand anomaly and ipsilateral aplasia of the inferior head of the pectoralis major muscle. A marked decrease of the velocity of the systolic in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496922
更新日期:1978-05-22 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: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
abstract::To investigate the changes in the 1 alpha,25-dihydroxyvitamin D [1,25(OH)2D] level and the role of parathyroid hormone (PTH) and calcitonin (CT) during the early neonatal periods, we measured 1,25(OH)2D, 25-hydroxyvitamin D [25(OH)D], PTH specific for mid-regions (mPTH) and urinary cAMP (UcAMP) to evaluate the renal t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442212
更新日期:1988-02-01 00:00:00
abstract::The heuristic concept of "inborn errors of metabolism" was introduced more then 70 years ago and by analogy has prompted the more recent introduction of the term "inborn errors of immunity". It is now well recognized that many inborn errors of immunity can be considered inborn errors of metabolism. Typically, many for...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00491916
更新日期:1985-05-01 00:00:00
abstract::Chylothorax is defined as an effusion of lymph in the pleural cavity. In the neonate both congenital and traumatic (iatrogenic) forms exist. Birth asphyxia and respiratory insufficiency are major symptoms of congenital chylothorax, requiring resuscitation and artificial ventilation. Antenatal diagnosis by ultrasound a...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02072505
更新日期:1993-01-01 00:00:00
abstract::An adapted cow's milk formula with or without supplemental taurine (480 mumol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine conc...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF00442699
更新日期:1988-04-01 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::Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957752
更新日期:1992-07-01 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:UNLABELLED:An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revea...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957148
更新日期:1996-08-01 00:00:00