Abstract:
:Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinuous pattern in most fibers. In both patients dystrophin was undetectable by immunoblotting. DNA analysis of the dystrophin gene was not informative in one patient; in the other it revealed an in-frame deletion comprising exons 3-6. These observations suggest that the two patients are affected with an unusual phenotype of Becker muscular dystrophy. Dystrophin analysis should be included in the evaluation of patients with childhood-onset of recurrent myoglobinuria.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Minetti C,Tanji K,Chang HW,Medori R,Cordone G,DiMauro S,Bonilla Edoi
10.1007/BF02073385subject
Has Abstractpub_date
1993-10-01 00:00:00pages
848-51issue
10eissn
0340-6199issn
1432-1076journal_volume
152pub_type
杂志文章abstract:UNLABELLED:The aim of this paper was to systematically review the published evidence on the relationship between the type of childcare and risk of childhood overweight or obesity. The databases PubMed, MEDLINE, Cochrane Library and EMBASE were searched using combinations of the various search terms to identify eligible...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-016-2768-9
更新日期:2016-10-01 00:00:00
abstract:UNLABELLED:The aim of this study was to assess the physical performance in long-term survivors of acute leukaemia in childhood and to evaluate the effects of anthracycline therapy. Electrocardiography, echocardiography and spiroergometry were carried out on 56 patients aged 9-28 years, of whom 44 patients had been trea...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050854
更新日期:1998-06-01 00:00:00
abstract::Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operati...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02276713
更新日期:1995-09-01 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::Blood pressure (BP) is variable in children and this could affect BP assessment, but the magnitude of within-visit BP variability (BPV) over consecutive measurements has never been investigated. This study aimed to determine the direction and magnitude of, and factors affecting, within-visit BPV in children and adoles...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3049-y
更新日期:2018-02-01 00:00:00
abstract::The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014253
更新日期:1996-07-01 00:00:00
abstract:UNLABELLED:The objective of this analysis was to determine the relationship between wheezing at different age groups in children and the prevalence of bronchial hyperreactivity at the age of 10. A population-based cross-sectional study was conducted in Leipzig and the region around Halle in Germany. Of 3105 10-year-old...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02190692
更新日期:1994-09-01 00:00:00
abstract::Severe hand, foot, and mouth disease (HFMD) is likely to develop critical complications such as brainstem encephalitis, acute pulmonary edema, and circulatory failure, which cause child mortality during outbreaks. This study aims to investigate factors that predict the severity of HFMD. One hundred sixteen in-patient ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1939-1
更新日期:2013-05-01 00:00:00
abstract::Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441894
更新日期:1979-01-18 00:00:00
abstract::The traditional recommendation that Swiss children receive vitamin D during the first year of life was recently extended to the second and third year of life and during winter for older children. The aim of the study was to identify how Swiss pediatricians prescribe vitamin D. Between December 2016 and March 2017, 795...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03400-0
更新日期:2019-07-01 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::CD3+4-8- double negative cells in peripheral blood lymphocytes were examined in 21 severely handicapped children divided into two groups according to serum IgG level. All children were bedridden and were taking multiple anticonvulsants and there were no apparent clinical differences between these two groups. Serum lev...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01954738
更新日期:1994-12-01 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:UNLABELLED:The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a het...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1262-3
更新日期:2003-09-01 00:00:00
abstract::Through a systematic review and meta-analyses, we aimed to determine predictors for place of death among children. We searched online databases for studies published between 2008 and 2019 comprising original quantitative data on predictors for place of death among children. Data regarding study design, population char...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03689-2
更新日期:2020-08-01 00:00:00
abstract::Male pseudohermaphroditism (MPH) is defined as incomplete masculinization in patients with normal male karyotype (XY) and testicular histology. MPH encompasses a spectrum of female to male phenotypes and presents both diagnostic and technical challenges to the surgeon. Once gender is assigned, based on phenotype, adeq...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02125449
更新日期:1993-01-01 00:00:00
abstract:UNLABELLED:Desmopressin (DDAVP) is frequently used in the treatment of primary isolated enuresis nocturna if other approaches have failed. We report a further case of hyponatraemia and cerebral convulsion due to water intoxication after intranasal DDAVP application by a 6 year-old boy with enuresis. CONCLUSION:Althoug...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02115626
更新日期:1996-01-01 00:00:00
abstract::Newborns are exposed to mechanical and oxidative stress during labor and to relative hyperoxia thereafter during the course of adaptation to the extrauterine conditions. Part of the adaptation mechanism is the rapid degradation of fetal hemoglobin and the oxidation of its heme moiety by heme oxygenases (HOs). Heme oxy...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0375-x
更新日期:2007-10-01 00:00:00
abstract::We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444644
更新日期:1976-11-03 00:00:00
abstract:INTRODUCTION:Population modelling using mixed-effects models provides a means to study variability in drug responses among individuals representative of those for whom the drug will be used clinically. DISCUSSION:The advantages of these models in paediatric studies are that they can be used to analyse sparse data, sam...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-006-0188-y
更新日期:2006-11-01 00:00:00
abstract:UNLABELLED:A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recov...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310051033
更新日期:1999-02-01 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::Early diagnosis and treatment of phenylketonuria (PKU) in Poland was started in 1965, initially on a voluntary and then on a obligatory basis. Guthrie tests have been used for newborn screening. For confirmation of diagnosis changing with time methods of blood phenylalanine (Phe) and tyrosine estimation were used. In ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00014250
更新日期:1996-07-01 00:00:00
abstract::Maternal morbidity is associated with cesarean deliveries. However, new evidence suggests that short- and long-term neonatal morbidity is also associated. This includes respiratory morbidity with conflicting results. To determine whether mode of delivery has an impact on the long-term risk for respiratory morbidity in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3225-8
更新日期:2018-11-01 00:00:00
abstract::A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1715-7
更新日期:2012-08-01 00:00:00
abstract::We describe a patient with leucocyte adhesion deficiency (LAD). Clinically, the patient had delayed umbilical cord detachment, omphalitis, impaired wound healing and persistent leucocytosis. The patient had the severe form of LAD, with a total absence of leucocyte cell adhesion molecules (LeuCAMs) and undetectable mRN...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958952
更新日期:1992-02-01 00:00:00
abstract:UNLABELLED:Group A streptococcal (GAS) infection is the most common cause of bacterial pharyngitis and has an important role in the pathogenesis of post-infective phenomena including rheumatic fever and glomerulonephritis. Mortality from GAS is uncommon, particularly in the paediatric population. Toxic shock syndrome r...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-002-1032-7
更新日期:2002-09-01 00:00:00
abstract::The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autonomic and peripheral neuropathies has more commonly been reported in older individuals. We describe four children (two siblings) with this disorder, aged between 3 and 6 years at di...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01972967
更新日期:1995-01-01 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::Phenylketonuria's (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of this study was to evaluate the reliability of ADMA as a biomarker of adequate metabolic control and possible nutritional risk in a long-term PKU patient popula...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-019-03365-0
更新日期:2019-06-01 00:00:00