Abstract:
:Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic measures as predictors of clinical severity in seven children with MMA and six with PA. Propionate oxidation was measured using a continuous infusion of [1-13C]propionate and was expressed as the rate of appearance of 13CO2 as a percentage of the propionate infusion rate. Children with MMA (mean oxidation 51.2%, range 17.5-91.6, P less than 0.05) and with PA (mean oxidation 36.3%, range 3.0-91.1, P = NS) oxidised substantially less propionate than controls (mean oxidation 81.9%, range 69.4-101.0, n = 5). Percentage oxidation was a better predictor of the clinical severity score (r = 0.75, P less than 0.01) than was in vitro enzyme activity, plasma propionate or methylmalonate concentration or urinary metabolite excretion. Studies were repeated after an interval of 1-3 weeks in six of the subjects; the percentage oxidation in each subject was virtually unchanged between studies (coefficient of variation 8.6%). These results suggest that in vivo oxidation measurements using [13C]propionate are both reproducible and prognostically useful in disorders of propionate metabolism.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Thompson GN,Walter JH,Bresson JL,Bonnefont JP,Saudubray JM,Leonard JV,Halliday Ddoi
10.1007/BF02009661subject
Has Abstractpub_date
1990-03-01 00:00:00pages
408-11issue
6eissn
0340-6199issn
1432-1076journal_volume
149pub_type
杂志文章abstract:UNLABELLED:Cystic adenomatoid malformation of the lung (CAML) is a rare pulmonary maldevelopment resulting from an abnormal growth of the terminal bronchial structures. This study proposes a possible management of prenatally diagnosed CAML. A group of nine cases of CAML diagnosed prenatally between January 1990 and Dec...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051233
更新日期:1999-11-01 00:00:00
abstract::Mitochondrial disorders are a clinically and biochemically diverse group of disorders which may involve multiple organ systems. General anaesthesia (GA) poses a potential risk of decompensation in children with mitochondrial disorders, and there is little guidance for anaesthetists and other clinicians regarding the o...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-016-2813-8
更新日期:2017-01-01 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::Despite advancement in medical care, Rh alloimmunisation remains a major cause of neonatal hyperbilirubinaemia, neuro-morbidity, and late-onset anaemia. Delayed cord clamping (DCC), a standard care now-a-days, is yet not performed in Rh-alloimmunised infants due to paucity of evidence. Hence, we randomised these infan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03578-8
更新日期:2020-06-01 00:00:00
abstract:UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02002905
更新日期:1996-09-01 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:UNLABELLED:Human parechoviruses (HPeV) have been recently recognized as important viral agents in paediatric infections. The aims of this study were to investigate the HPeV infection prevalence in infants <1 month in Spain and, secondly, to analyse the clinical and epidemiological characteristics of the infected patien...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
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更新日期:2015-11-01 00:00:00
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::The updated Dutch guidelines on Neonatal Resuscitation assimilate the latest evidence in neonatal resuscitation. Important changes with regard to the 2004 guidelines and controversial issues concerning neonatal resuscitation are reviewed, and recommendations for daily practice are provided and argued in the context of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1091-0
更新日期:2010-05-01 00:00:00
abstract::Specialist paediatric services manage a variety of presentations of functional somatic symptoms. We aimed to describe the presentation and management of children and adolescents with somatic symptom and related disorders (SSRDs) requiring admission to a tertiary children's hospital with the objective of informing the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03867-2
更新日期:2020-11-13 00:00:00
abstract::The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome. Literature search documented at least 413 cases with 558 sibs. An aff...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00595907
更新日期:1989-02-01 00:00:00
abstract::The role of the type-2 T helper (Th2) cell-mediated immune response in the immunopathogenesis of atopic dermatitis (AD) is well documented. Whether polarized immunoresponse is confined to antigen-specific T cells or is distributed among all T cell subsets is still controversial. We investigated frequencies of interleu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0319-5
更新日期:2007-08-01 00:00:00
abstract:UNLABELLED:Sjögren syndrome (SS) is a common disorder in adults and involves both glandular and extraglandular systems. We report here four cases of childhood SS complicated by chronic thyroiditis, interstitial nephritis or sweat gland inflammation. Additionally, in one of these cases, the central nervous system was in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02282840
更新日期:1996-10-01 00:00:00
abstract::The insulin-like growth factors (IGF-I and IGF-II) circulate bound to specific proteins. Two classes of binding proteins have been relatively well characterized differing in size, immunological activity, and physiological function. This review summarizes the more recent data on IGF-binding proteins, focusing on their ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01995850
更新日期:1989-11-01 00:00:00
abstract:UNLABELLED:An isolated eosinophilic granuloma involving the posterior elements of a lumbar vertebra is reported in a 3-year-old boy presenting with progressive limp. Radiological investigations revealed osteolysis of the L5 right pedicle. MRI showed a well-defined homogeneous mass with nonspecific signal intensity. An ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051097
更新日期:1999-05-01 00:00:00
abstract::Three sibs with an inherited form of male pseudohermaphroditism are described. They were all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was made during childhood. First seen at the ages of 16, 14 and 10 years respectively, they were investigated in order to establish the pathog...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441984
更新日期:1988-06-01 00:00:00
abstract::We have investigated four patients from three unrelated families with typical clinical and biochemical features of "late-onset" multiple carboxylase deficiency. All patients suffered from biotinidase deficiency (plasma biotinidase activities 1.4%-3% of normal). Intestinal absorption of biotin, measured in three of the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00491919
更新日期:1985-05-01 00:00:00
abstract::Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1459-9
更新日期:2011-09-01 00:00:00
abstract::A series of information processing tasks was administered to 22 PKU children aged 8.5 years who had been under dietary treatment since birth as well as to 20 controls of the same age. This contribution presents the results of two tasks from this series: a continuous performance task and a calculation task. The continu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02126298
更新日期:1990-01-01 00:00:00
abstract:UNLABELLED:This study assessed health-related quality of life (HRQoL) reported by overweight adolescents and compared to their parent-proxy perception of HRQoL, according to adolescent gender, adolescent age, and parent gender. Patients and a total of 179 adolescents aged 10 to 18 years with excess weight were evaluate...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2050-3
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abstract::We report four cases of acute idiopathic scrotal oedema, an underreported cause of acute painless or moderately painfull swelling and erythema of the scrotum in young boys. It is a self-limiting disease and to prevent unnecessary surgical exploration or antibiotic therapy, it is very important to distinguish acute idi...
journal_title:European journal of pediatrics
pub_type: 信件
doi:10.1007/s004310100771
更新日期:2001-07-01 00:00:00
abstract:LARYNGOSCOPE BURNS IN NEONATAL INTUBATION:Following burns during neonatal intubation, we mounted an in vitro study of laryngoscopes to determine the temperatures reached during clinical use. The temperature of 10 different bulb laryngoscopes heads and two fibre optic heads were measured with a thermocouple, once opened...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03381-0
更新日期:2019-07-01 00:00:00
abstract::A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02190657
更新日期:1994-08-01 00:00:00
abstract::Sera from 33 newborn infants with gestational ages ranging from 27 to 41 weeks were tested by radioimmunoassay for IgG antibodies to surface antigens of group B streptococci (GBS) types Ia, Ib, II and III. Antibody levels to GBS antigens were positively correlated to gestational age and birthweight. However, only the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445584
更新日期:1984-06-01 00:00:00
abstract::We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 109/L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urge...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2899-7
更新日期:2017-08-01 00:00:00
abstract::Inflammatory bowel disease (IBD) is a cause of chronic intestinal inflammation in children. In a subset of patients affected by IBD, arthropathy may be the leading presenting sign. In the past years, remarkable advances in gastrointestinal endoscopy techniques have been achieved; recently, the development of capsule e...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1505-7
更新日期:2011-10-01 00:00:00
abstract:UNLABELLED:Our aim was to evaluate effectiveness of pandemic influenza A/H1N1 vaccine in preventing acute otitis media (AOM) and/or otitis media with effusion (OME), in a randomized, prospective and single-blind study conducted in the children aged of 6-60 months. This study was done between December 1, 2009 and April ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-012-1797-2
更新日期:2012-11-01 00:00:00
abstract::Neonatal stroke is a diverse clinical entity. Terminology and aetiology described in the literature are very varied. While numerous risk factors are cited, only few case-control studies have investigated them in a systematic fashion. This equipoise extends to the investigational and management profile of perinatal str...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1509-3
更新日期:2012-02-01 00:00:00
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journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1578-3
更新日期:2012-02-01 00:00:00
abstract::Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL) are among the most common malignancies of childhood. (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) can be employed for accurate staging, treatment planning, and response assessment in pediatric patients with lymphomas, taking advantage of the inc...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-013-1993-8
更新日期:2013-06-01 00:00:00