Abstract:
UNLABELLED:Osteogenesis imperfecta (OI), a dominantly inherited connective tissue disorder, is usually caused by defects in collagen I. There is growing evidence for parental mosaicism that results in affected children born to unaffected parents. This situation poses a difficult task for the geneticist because a mosaic parent may appear clinically healthy while carrying the mutation in a fraction of her or his gonadal cells. To illustrate this problem, we report a Swiss couple whose first child was affected with severe OI. The unexpected recurrence of the disorder in the second child raised the suspicion of a recessive trait or, rather, of parental mosaicism. We identified the responsible collagen mutation in the COL1A2 gene (Gly688Ser in the alpha 2(I)-chain) in both children and demonstrated the father to be a somatic mosaic for this mutation and to have subtle clinical signs such as soft skin and short stature that may be a result of his mosaic state. CONCLUSION:After the birth of a child affected with OI the possibility of parental mosaicism should be considered and options for prenatal diagnosis discussed.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Raghunath M,Mackay K,Dalgleish R,Steinmann Bdoi
10.1007/BF01991915subject
Has Abstractpub_date
1995-02-01 00:00:00pages
123-9issue
2eissn
0340-6199issn
1432-1076journal_volume
154pub_type
杂志文章abstract:UNLABELLED:Compliance by residents in pediatrics to pediatric resuscitation guidelines is low. In many French faculties, a 1-h traditional lecture is still used to educate medical students about pediatric cardiopulmonary arrest (CPA). We developed an innovative pedagogic course combining a 23-min video and 3-h simulati...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-016-2702-1
更新日期:2016-06-01 00:00:00
abstract::Clinical pharmacists provide beneficial services to adult patients, though their benefits for paediatric hospital patients are less defined. Five databases were searched using the MeSH terms 'clinical pharmacist', 'paediatric/paediatric', 'hospital', and 'intervention' for studies with paediatric patients conducted in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3187-x
更新日期:2018-08-01 00:00:00
abstract:UNLABELLED:To assess the role of dexamethasone treatment as a cause of systemic hypertension and associated complications, blood pressure was registered prospectively before, during and after a 4-week dexamethasone course in 22 neonates with chronic lung disease. In all patients systolic blood pressure rose significant...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF01957907
更新日期:1996-07-01 00:00:00
abstract::Despite being one of the most common congenital defects in boys, the etiology of hypospadias remains largely unknown. In this case-referent study, we evaluated a wide spectrum of potential risk factors for hypospadias. Cases were identified from the hospital information system, and referents were recruited through the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0304-z
更新日期:2007-07-01 00:00:00
abstract:INTRODUCTION:This randomised, observer-blind clinical trial conducted in Turkey evaluated the immunogenicity, safety and interchangeability of three paediatric inactivated hepatitis A vaccines in 424 seronegative children between 1 and 15 years of age. METHODS:Potential subjects were screened for anti-hepatitis A viru...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-007-0432-0
更新日期:2007-06-01 00:00:00
abstract::A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findi...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF01959398
更新日期:1990-04-01 00:00:00
abstract::Severe complications due to Shigatoxin-associated hemolytic uremic syndrome (STEC-HUS) currently present a serious challenge since no specific treatment for this condition is available. Eculizumab, a terminal complement inhibitor, has been used especially in STEC-HUS patients with severe neurological involvement, but ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-3077-7
更新日期:2018-03-01 00:00:00
abstract:UNLABELLED:Neurological complications of immunizations are rare. We report the case of relapsing acute encephalitis in a boy after two subsequent diphtheria-tetanus-poliomyelitis vaccinations. First the clinical signs were those of acute disseminated encephalitis. During the second episode, the boy experienced optic ne...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02075768
更新日期:1996-02-01 00:00:00
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:INTRODUCTION:Newborns with intrauterine growth retardation (IUGR) have multiple risk factors for developing hypoglycaemia. Hyperinsulinism, both transient and prolonged, is one of the major risk factors responsible for the hypoglycaemia observed in some newborns with IUGR. Once the child has progressed beyond the infan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0371-1
更新日期:2007-10-01 00:00:00
abstract::In five L-thyroxine-substituted hypothyroid children with partial epilepsy serum total thyroxine (T4) and free T4 (FT4) significantly (P less than 0.01) decreased following 2 months of carbamazepine (CBZ) administration (20 mg/kg per BW per day) from mean (+/- SD) values of 12.7 +/- 1.1 micrograms/dl and 15.5 +/- 1.8 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441860
更新日期:1986-04-01 00:00:00
abstract:UNLABELLED:Fibronectin (a glycoprotein which modulates inflammation) may decrease mortality in systemic infection. Children with meningococcal disease (MCD) may have low fibronectin levels. We aimed to compare plasma fibronectin levels in children with MCD and controls, correlate fibronectin levels with interleukin-6 (...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s004310050636
更新日期:1997-06-01 00:00:00
abstract::Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in ado...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03651-2
更新日期:2020-10-01 00:00:00
abstract::Strategies for the treatment of cystathionine beta-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing the load on the affected pathway with a low methionine diet and supplementing the diet with cysteine; and (3...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00014308
更新日期:1998-04-01 00:00:00
abstract::Most reviews on weight status have focused on obesity, and little information on underweight children is available. This review aimed to examine the prevalence and trends of underweight status among Asian children and adolescent populations in the last two decades. A systematic review of publications between the years...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1685-9
更新日期:2012-05-01 00:00:00
abstract::The results of 24 h oesophageal pH monitoring, performed in 129 infants aged 6-10 weeks, were compared to those in the same patients after shorter periods (3, 6, 9 and 12 h). In the investigated population there was no significant difference between the reflux index (percentage of time with a pH < 4.0) after 12 or 24 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959212
更新日期:1994-02-01 00:00:00
abstract::There is evidence pointing to a decrease of the glomerular filtration rate (GFR) in a subgroup of nephrotic children, likely secondary to hypovolemia. The aim of this study is to validate the use of urinary potassium to the sum of potassium plus sodium ratio (UK/UK+UNa) as an indicator of hypovolemia in nephrotic synd...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3029-2
更新日期:2018-01-01 00:00:00
abstract::We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficien...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0694-1
更新日期:2008-12-01 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
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: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::A large number of ventilation strategies are now available for the neonate. This review has focused on new information, that is, studies published since 2000 and the implication of their results for current clinical practice. Meta-analysis of randomised trials has demonstrated that assist control and synchronous inter...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-007-0513-0
更新日期:2007-10-01 00:00:00
abstract::The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann ty...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443119
更新日期:1977-08-23 00:00:00
abstract::A girl developed acute agranulocytosis (45/mm3), 37 days after the onset of infectious mononucleosis. The bone marrow showed myeloid hyperplasia with maturation arrest and erythroid hypoplasia. A normal amount of colony forming units of granulocytes and macrophages (CFU-GM) colonies with a relative high number of clus...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959523
更新日期:1990-07-01 00:00:00
abstract::The incidence of intussusception in infants varies around the world. The epidemiology of intussusception in France has never been prospectively studied. We performed a prospective observational study with systematic inclusion of all infants aged <1 year with suspected intussusception admitted to the emergency departme...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-016-2838-z
更新日期:2017-03-01 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:UNLABELLED:We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tac...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-0015-x
更新日期:2006-02-01 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:UNLABELLED:In patients with Henoch-Schönlein purpura (HSP) presenting with severe gastro-intestinal (GI) symptoms, IgA deposition was studied in endoscopically obtained mucosal biopsies. A total number of 11 patients (male, 7; female, 4) were enrolled in this study; 7 patients underwent upper GI endoscopy and biopsy 1 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02075757
更新日期:1996-02-01 00:00:00
abstract:UNLABELLED:Atypical hemolytic uremic syndrome (HUS) refers to the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury in the absence of Shiga toxin-producing Escherichia coli exposure or Streptococcus pneumoniae infection. Currently, approximately 50 % of the atypical cases have demons...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1763-z
更新日期:2012-10-01 00:00:00