Abstract:
:Two siblings became very ill after BCG inoculation in the newborn period. A generalized BCG infection was assumed from the clinical symptomatology and the histological findings. Later on the boy suffered from enteric salmonellosis and osteomyelitis caused by the same organism, and as a todler he had intestinal pseudotuberculosis. Prompt recovery took place under selective antibiotic therapy. No known immunodeficiency disease could be correlated with this familial syndrome of increased susceptibility to intracellular vital microbes. A defective function of the patients macrophage system is suspected.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Heyne Kdoi
10.1007/BF00445481keywords:
subject
Has Abstractpub_date
1976-02-04 00:00:00pages
179-89issue
3eissn
0340-6199issn
1432-1076journal_volume
121pub_type
杂志文章abstract::Diagnosis of immunoglobulin deficiency with increased IgM (hyper-IgM syndrome) was made in three siblings (two girls and a boy) on the basis of history, physical findings, and laboratory data. The prominent clinical findings were recurrent viral and bacterial infections of the respiratory tract. The most severe infect...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441406
更新日期:1988-12-01 00:00:00
abstract::The light- and electron-microscopic structure of articular and costal cartilage in a case of achondrogenesis type I has been described. The most characteristic ultrastructural change in the chondrocytes was conspicuous dilatation of the rough endoplasmatic reticulum (RER) which contained amorphous electronopaque mater...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442406
更新日期:1980-06-01 00:00:00
abstract::Adolescents have specific healthcare needs distinct from adults or younger children secondary to anatomical, physiological and socio-behavioural differences. Healthcare providers have been slow to address this, leading the UK Department of Health (2011) to publish 'You're Welcome' quality criteria for services for you...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-016-2815-6
更新日期:2017-02-01 00:00:00
abstract::In 166 full term, small-for-gestational-age (FT-SGA), 53 preterm, appropriate-for-gestational-age (PT-AGA), 27 PT-SGA and 206 FT-AGA infants a neurological examination at the age of 6 years was carried out. Data were collected on behaviour and school achievement. Major and minor neurological abnormalities were more fr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441967
更新日期:1988-06-01 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::Urinary recovery and serum determination of Paba were carried out in 48 control children (C) and 53 paediatric patients with cystic fibrosis (CF) divided into three classes by age. Ninety and 120 min after the ingestion of 15 mg/kg of BT-Paba and of a standard meal, serum Paba was determined. In the same subjects the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445804
更新日期:1984-12-01 00:00:00
abstract:UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five pa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050010
更新日期:2000-01-01 00:00:00
abstract::Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442300
更新日期:1985-03-01 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::A 4-month-old male infant was seen because of an asymptomatic undescended left testis and a right sided abdominal mass. CT revealed a calcified retroperitoneal tumour. Histological examination of surgical specimens showed a mature primary teratoma of the contralateral undescended testis. While this is very rare, infan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957524
更新日期:1993-11-01 00:00:00
abstract::Four months after termination of successful chemotherapy for epipharyngeal B-non-Hodgkin lymphoma, an enlarging anterior mediastinal mass was discovered in a 15-year-old boy. There was no other suspicion of tumour recurrence. A simple thymic rebound was likely and a conservative management was chosen. Follow up for mo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958950
更新日期:1992-02-01 00:00:00
abstract::Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02143799
更新日期:1995-01-01 00:00:00
abstract::The main goal for the neonatologist is to facilitate the adaptation to extra-uterine life during initial transition, while minimizing lung injury opening and protecting the premature lung from the first breath onwards. An appropriate management from birth should lead to the achievement of an early functional residual ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-2984-y
更新日期:2017-10-01 00:00:00
abstract:UNLABELLED:The pattern and distribution of subcutaneous fat in term and preterm newborns has been assessed by skinfold thicknesses (ST), describing gender and gestational age variations. Weight, length and ST (triceps, biceps, subscapular and suprailiac) were measured in 4634 neonates (2445 males and 2189 females) aged...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1468-z
更新日期:2004-08-01 00:00:00
abstract::The objective of this study was to determine the outcomes of Croatian children with biliary atresia. Health records of infants born in Croatia between January 1, 1992 and December 31, 2006 who were diagnosed with biliary atresia and treated at a single university center were reviewed. Survival rates were calculated wi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1266-8
更新日期:2010-12-01 00:00:00
abstract::Two siblings were found to be affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one of which died suddenly and unexpectedly on the 3rd day of life suffering from extreme hypoketotic hypoglycaemia. The younger sibling started to have feeding problems, lowered consciousness, and liver dysfunction at the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01963564
更新日期:1991-01-01 00:00:00
abstract::We report what we believe to be the first case of simultaneous infection by Toxoplasma gondii and cytomegalovirus in a newborn. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496426
更新日期:1988-05-01 00:00:00
abstract::Two patients with chronic granulomatous disease who had previously been intolerant to trimethoprim-sulfamethoxazole because of various adverse reactions completed a desensitisation protocol with a favourable clinical outcome. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-0944-6
更新日期:2002-06-01 00:00:00
abstract::Two patients developed clinical features of intracranial bleeding--which were confirmed by computerized axial tomograms--during their induction therapy for acute lymphocytic leukemia. Coagulation studies showed clotting abnormalities including severe hypofibrinogenemia. These findings most probably were related to the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443266
更新日期:1981-11-01 00:00:00
abstract::This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a "new" probably monogenic syndrome. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00647293
更新日期:1987-01-01 00:00:00
abstract:UNLABELLED:In this study, 144 consecutive percutaneous liver biopsies performed with a 1.6 mm Menghini needle, during a 2-year period were reviewed. All the children were aged under 15 years, 57 patients less than 1 year and 87 more than 1 year. All biopsies were adequate and the mean number of portal tracts examined w...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02079063
更新日期:1995-08-01 00:00:00
abstract:UNLABELLED:Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder commonly prevalent in children worldwide including Thailand. However, there are very few studies thus far addressing risk factors for ASD in Thai children. This case-control study aims to investigate whether various risk factors es...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-015-2544-2
更新日期:2015-10-01 00:00:00
abstract::A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical r...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02138772
更新日期:1994-01-01 00:00:00
abstract::Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset ad...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0779-x
更新日期:2009-03-01 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::The aim of this retrospective study was to describe the epidemiology and spectrum of infections of admitted pediatric refugees and asylum seekers in a tertiary referral hospital in a high-income country in Europe. We identified recent refugees and asylum seekers < 18 years of age admitted to the University Children's ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3014-9
更新日期:2017-12-01 00:00:00
abstract::A developmental approach to the management of sleep disturbances was successful in 85% (44/52) of the children (aged 2-36 months) within 2-6 weeks. No drugs were used. The approach was based on the following two principles: taking into account the characteristics of sleep behavior in infants and young children by sett...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442443
更新日期:1984-08-01 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::We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions ch...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0447-6
更新日期:2008-02-01 00:00:00
abstract::We report on a youngster followed by his paediatrician from birth until 14 years of age for premature beats, most likely of ventricular origin. The sudden death of his sister provoked a re-assessment of his electrocardiograms (ECG), resulting in the diagnosis of Brugada syndrome and the subsequent implantation of a ca...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-006-0150-z
更新日期:2006-08-01 00:00:00