Abstract：
:Six patients are described with a combination of early onset of neurological symptoms, gross cerebral changes and elevated concentrations of pyruvate and lactate in cerebrospinal fluid. Although at least five of the six patients appear to have a generalised defect in pyruvate metabolism, reflected in deficient pyruvate dehydrogenase activity in cultured fibroblasts, systemic acidosis was not a problem clinically and blood pyruvate and lactate concentrations were only slightly raised. The localisation of significant clinical and biochemical problems to the central nervous system, coupled with the difficulties in making the diagnosis if analysis of cerebrospinal fluid (CSF) is not performed, lead us to term this condition "cerebral" lactic acidosis.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Brown GK,Haan EA,Kirby DM,Scholem RD,Wraith JE,Rogers JG,Danks DMdoi
10.1007/BF00442603subject
Has Abstractpub_date
1988-01-01 00:00:00pages
10-4issue
1eissn
0340-6199issn
1432-1076journal_volume
147pub_type
杂志文章abstract：UNLABELLED:Suppurative parotitis is uncommon in newborns. During a 9-year study period, five cases of neonatal suppurative parotitis were detected in 3,624 hospital admissions. The relative risk of developing neonatal suppurative parotitis in admitted infants was 5.52 (0.62-49.35). Staphylococcus aureus was the causati...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051079
更新日期：1999-04-01 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：:When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease. ...
journal_title：European journal of pediatrics
pub_type： 信件
doi：10.1007/s00431-001-0890-8
更新日期：2002-03-01 00:00:00
abstract：:Cardiac imaging has had significant influence on the science and practice of pediatric cardiology. Especially the development and improvements made in non-invasive imaging techniques, like echocardiography and cardiac magnetic resonance imaging (MRI), have been extremely important. Technical advancements in the field ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-007-0544-6
更新日期：2008-01-01 00:00:00
abstract：:Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02073374
更新日期：1993-10-01 00:00:00
abstract：:Coeliac disease and type 1 diabetes mellitus can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of coeliac disease among Hungarian diabetic children and to study the effect of gluten-free diet on glycaemic control. A total of 205 diabetic...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1103-9
更新日期：2003-01-01 00:00:00
abstract：:It is the pediatrician's role to promote the child's well-being and to help parents raise healthy, well-adjusted children. Today's pediatricians are confronted with a patient population in which there is a high prevalence of child abuse in its different presentations (physical, sexual, and psychological abuse and/or n...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-011-1616-1
更新日期：2012-01-01 00:00:00
abstract：:Using a randomized double blind study design, the bronchodilating effect of 200 micrograms inhaled oxitropium bromide (OB) was compared with 200 micrograms inhaled fenoterol (F) after an interval of 20 min, in 20 asthmatic children aged 12.7 years (range: 4.9-15.1 years), suffering from mild bronchoconstriction (mean ...
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/BF02190670
更新日期：1994-08-01 00:00:00
abstract：:This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-009-1017-x
更新日期：2009-11-01 00:00:00
abstract：:Early identification of infants being at high risk to become obese at their later childhood or adolescence can be of vital importance in any obesity prevention initiative. The aim of the present study was to examine the utility and applicability of the "Childhood Obesity Risk Evaluation (CORE)" index as a screening to...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-016-2799-2
更新日期：2016-12-01 00:00:00
abstract：:Two children with congenital cytomegalovirus infection and intracerebral echogenicities were investigated by computer sonography and colour Doppler imaging (CDI). By simultaneous imaging of brain tissue and CDI, blood flow within the stripe-like echogenicities of the basal ganglia was demonstrated. Using CDI the echog...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959476
更新日期：1990-11-01 00:00:00
abstract：:We present a case of Pott's disease, where the patient presented with neurological impairment due to vertebral granulomatous necrosis, needing immediate decompression and later stabilizing and reconstructive orthopaedic surgery, in order to create awareness for TB in general, especially this forgotten form of spinal t...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0347-1
更新日期：2007-10-01 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：:This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of beta zero-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive inc...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02093721
更新日期：1991-04-01 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：:The calorie intake and weight gain of 24 low birth weight (LBW) infants, less than 33 weeks gestation and less than 1500 g birth weight, was studied prospectively. Fourteen infants were fed on a commercially available LBW formula milk and ten were fed on their own mother's fresh unpasteurised expressed breast milk (EB...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442748
更新日期：1984-11-01 00:00:00
abstract：:The purpose of this communication is to report the occurrence of early-onset Pseudomonas aeruginosa sepsis and Yersinia enterocolitica neonatal infection. This case serves as a reminder of the changing spectrum of neonatal septicaemia. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02343233
更新日期：1987-03-01 00:00:00
abstract：:We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) with suspected hypogonadism. All subjects received a single injection of hCG (5000 U/1.7 m2) and 1 month later,...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/BF01957499
更新日期：1995-11-01 00:00:00
abstract：:Recombinant human erythropoietin was given to eight children and adolescents with stable chronic renal failure in the predialysis state. The hormone was administered subcutaneously, twice weekly for 12 weeks, at a starting dose of 50 U/kg per week. The dosage was adapted every 4th week. Target haemoglobin was 10.5-11....
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959224
更新日期：1994-02-01 00:00:00
abstract：:To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442474
更新日期：1988-08-01 00:00:00
abstract：UNLABELLED:Dynamic processes are of great interest in the study of lipid and fatty acid metabolism. Their in vivo investigation is now possible with the use of stable isotope tracers and the available sensitive analytical technology. We present some examples demonstrating the assessment of lipid oxidation as well as mo...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014276
更新日期：1997-08-01 00:00:00
abstract：UNLABELLED:The severity and duration of immunosuppression caused by corticosteroids (CSs) usage have not been extensively studied. We aimed to investigate the effects of CSs on the various compartments of immune system in relation to timing of initiation and persistence of therapy. Pediatric patients with idiopathic ne...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/s00431-016-2694-x
更新日期：2016-05-01 00:00:00
abstract：:Allergic diseases are on the increase and can affect the child's well-being. The aim of this survey was to assess regional schools' preparedness in dealing with anaphylaxis following the publication of national and international guidelines for schools in 2014. The survey was developed in 2015 and distributed to school...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03645-0
更新日期：2020-10-01 00:00:00
abstract：:The performance of two triggering systems was compared during patient triggered ventilation (PTV) of infants ventilator-dependent beyond 10 days of age. Ten infants were studied who had a median gestational age of 26.5 weeks and a postnatal age of 15.5 days. PTV was administered via the SLE ventilator and the two trig...
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/BF01957937
更新日期：1992-11-01 00:00:00
abstract：UNLABELLED:Primary spontaneous pneumothorax (PSP) is not uncommon, and its recurrence is often a challenging clinical problem. Surgical management and predisposing factors for the recurrence of PSP, however, have not yet been well elucidated in adolescent patients. The major aim of this study was to investigate factors...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2352-0
更新日期：2014-11-01 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：:A 16-year-old girl is described with abetalipoproteinaemia who underwent liver transplantation for hepatic cirrhosis. After this procedure her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant microsomal triglyceride-transfer protein, rem...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050882
更新日期：1998-07-01 00:00:00
abstract：:An autosomal dominant hereditary bone dysplasia was observed in three members of a Sardinian family living in Germany--the father and two sons. The guiding clinical symptom is thickening of the wrist proximal to the styloid process of the ulna. The radiologically recognizable changes--non-calcified cartilaginous islan...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441850
更新日期：1986-04-01 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：UNLABELLED:We describe a rare case of acute acalculous cholecystitis (AC) due to Salmonella group D infection in a previously healthy child who developed gall bladder empyema and bacteraemia. Salmonella group D was recovered from blood culture, as well as cultures of stool, bile and gall bladder wall samples. The patie...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1051-4
更新日期：2002-11-01 00:00:00
