Abstract:
:A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable in extent, a basic pattern of neuropathological lesions is discernible. Case 1 shows gross cerebral atrophy, cases 2 and 3 milder lesions in the basal nuclei but also multiple cerebellar heterotopias and delayed myelination. We suggest that the findings may provide evidence that OCT deficiency can have a teratogenic effect in utero and suggest that there is a need to monitor the pregnancies of carriers of this disorder.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Harding BN,Leonard JV,Erdohazi Mdoi
10.1007/BF00572763subject
Has Abstractpub_date
1984-02-01 00:00:00pages
215-20issue
4eissn
0340-6199issn
1432-1076journal_volume
141pub_type
杂志文章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::West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant durat...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-012-1813-6
更新日期:2012-11-01 00:00:00
abstract::A case of subacute meningitis caused by Brucella mellitensis is described. The meningitis was refractory to an antibiotic regime. Diagnosis was established by raised antibody titres to Brucella in serum and cerebrospinal fluid (CSF) and positive bone marrow and blood cultures. While treatment with tetracycline trimeth...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445917
更新日期:1988-11-01 00:00:00
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::Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear po...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3068-8
更新日期:2018-03-01 00:00:00
abstract::Paediatric patients are more vulnerable to drug administration errors due to a lack of appropriate drug dosages and strengths for use in this group of patients. Therefore, the aim of the present study was to determine the extent and types of drug administration errors in two paediatric wards and to identify measures t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1084-z
更新日期:2010-05-01 00:00:00
abstract:UNLABELLED:The first live-attenuated Oka strain varicella vaccines needed to be stored at -20 degrees C. Reformulation of this vaccine by SmithKline Beecham Biologicals has provided a vaccine shelf life of up to 2 years when stored at +4 degrees C to +8 degrees C. In this study the immunogenicity and reactogenicity of ...
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/BF01957158
更新日期:1996-08-01 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::Physiotherapists, occupational therapists, and speech therapists play a key role in the treatment of children with epilepsy. We performed a survey of therapists' knowledge of and attitudes towards epilepsy in two regions of Germany, the city of Leipzig and the rural district of Zwickau. Therapists of 29/68 (43%) outpa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03437-1
更新日期:2019-10-01 00:00:00
abstract::We discuss the unusual presentation of acquired toxoplasmosis in a girl with severe and transient hemidystonia as a unique symptom. Serum titres of anti-toxoplasma antibodies increased whereas no specific antibody response in the CSF was observed. While symptomatic drugs were inefficacious, specific anti-toxoplasmosis...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01954489
更新日期:1994-10-01 00:00:00
abstract::Children affected with acute myocarditis may progress rapidly into profound ventricular dysfunction and ventricular arrhythmias. The objective of this study is to assess the impact of ventricular arrhythmias on in-hospital mortality and the use of mechanical circulatory support in patients with myocarditis. Pediatric ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03687-4
更新日期:2020-11-01 00:00:00
abstract::We compared epinephrine and dopamine as a first-line vasoactive drug in 40 neonates (enrolled in two gestational age strata ≤ 306/7 and ≥ 310/7 weeks) with fluid-refractory septic shock. Epinephrine or dopamine was initiated at 0.2 or 10 μg/kg/min, respectively. If shock persisted after 15 min, epinephrine or dopamine...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-018-3195-x
更新日期:2018-09-01 00:00:00
abstract:UNLABELLED:The effect of different feeding regimens, notably the use of hydrolysed cow's milk formulas, on the development of allergic reactions and the development of cow's milk protein-IgG antibodies is still disputed. We prospectively compared the development of allergic manifestations and cow's milk protein-IgG ant...
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/BF02002723
更新日期:1996-04-01 00:00:00
abstract::Iodine deficiency is well documented in Belgium in adults including pregnant women, adolescents, schoolchildren, and neonates, but no data are available in the age group 6 months-3 years. We investigated the status of iodine nutrition in 111 healthy subjects in this age group in an attempt to evaluate the risk of brai...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000707
更新日期:2001-04-01 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:UNLABELLED:Lemierre syndrome used to be a complication of severe oropharyngeal infection with regional thrombophlebitis, septicaemia and septic metastatic infections caused by Fusobacterium necrophorum in the pre-antibiotic era. A case of septic arthritis of the hip caused by F. necrophorum as a complication of tonsill...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050730
更新日期:1997-11-01 00:00:00
abstract::An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441580
更新日期:1980-03-01 00:00:00
abstract::Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been critically unwell. In this systematic review, we aimed to identify and describe which underlying comorbidities may be associated with severe SARS-CoV-2 disease and de...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03801-6
更新日期:2020-09-10 00:00:00
abstract::Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family,...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1007-z
更新日期:2010-02-01 00:00:00
abstract:UNLABELLED:A 9-year-old boy lost almost all his small bowel after an acute volvulus due to a congenital, but previously unsuspected malrotation. Survival using total parenteral nutrition is possible in these cases, but the medical burden is heavy. Small intestinal transplantation was performed for the first time in the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1294-8
更新日期:2003-11-01 00:00:00
abstract::In pediatric diabetes, insulin pump therapy is associated with less acute complications but inpatient pump education may lead to more hospital days. We investigated the number of hospital days associated with pump vs. injection therapy between 2009 and 2018 in 48,756 patients with type 1 diabetes < 20 years of age fro...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03883-2
更新日期:2021-02-01 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:The objective of this study was to describe the characteristics of children who required mechanical ventilation (MV) or extracorporeal membrane oxygenation (ECMO) support for respiratory syncytial virus (RSV) bronchiolitis, and to identify risk factors associated with disease severity assessed by duration of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1580-0
更新日期:2005-02-01 00:00:00
abstract::A 7-year-old boy developed acute, severe hypercalcaemia following the partial excision of a cerebellar medulloblastoma. The serum calcium level was extremely high (19.8 mg/100 ml), but a skeletal survey revealed no apparent bone metastatic lesions; such lesions were only detected by X-ray 3 weeks after the onset of hy...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444958
更新日期:1987-07-01 00:00:00
abstract::We updated our 2010 systematic review on the efficacy of probiotics in the treatment of constipation in children. The MEDLINE, EMBASE, and Cochrane Library databases; clinical trial registries; and reference lists of included studies were searched to February 2017 for randomized controlled trials (RCTs) performed in c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-2972-2
更新日期:2017-09-01 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: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:UNLABELLED:To investigate the toxic effect of tobacco smoke on the fetus, we measured in cord blood the concentrations of alpha-fetoprotein (AFP), the principal serum protein in early ontogenic development, and erythropoietin (EPO), as an index of chronic fetal hypoxia. A total of 103 consecutively enrolled term newbor...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/s004310051152
更新日期:1999-07-01 00:00:00
abstract:UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050810
更新日期:1998-04-01 00:00:00
abstract::Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associated with SDS. A retrospective study was conducted to describe mutation...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1908-0
更新日期:2013-05-01 00:00:00