Abstract:
UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill syndrome (dyschondrosteosis). The aim of this study was to determine the frequency of SHOX deletions in short stature children and to delineate indications for SHOX deletion screening. Out of 50 probands, 35 had idiopathic short stature, 12 cases showed additional anomalies of the forearms (in particular Madelung deformity) and three patients were affected by a congenital heart defect. Chromosomal investigations with fluoresence in situ hybridisation did not reveal a SHOX deletion in any patient with idiopathic short stature. In five of the 12 patients (41.7%) with anomalies of the forearms, a SHOX deletion on one sex chromosome could be detected. No deletion was observed in the three cases with additional heart defects. CONCLUSION:The frequency of short stature homeobox-containing gene deletions in patients with idiopathic short stature appears to be very low and does not require a fluorescence in situ hybridisation analysis. Short stature in association with anomalies of the forearms such as Madelung deformity makes a deletion more probable and therefore screening for such deletions is recommended in these cases.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Musebeck J,Mohnike K,Beye P,Tönnies H,Neitzel H,Schnabel D,Grüters A,Wieacker PF,Stumm Mdoi
10.1007/s004310100790keywords:
subject
Has Abstractpub_date
2001-09-01 00:00:00pages
561-5issue
9eissn
0340-6199issn
1432-1076journal_volume
160pub_type
杂志文章abstract:UNLABELLED:Breastfeeding provides perfect nutrition for infants and is a source of many health benefits for both mother and baby. To obtain the maximum beneficial effects of breast milk, it is necessary to prolong the breastfeeding duration. In this study, we investigated the factors influencing the duration of breastf...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2066-8
更新日期:2013-11-01 00:00:00
abstract:UNLABELLED:A suprasellar arachnoid cyst may cause disorders of growth, puberty and hypothalamic-pituitary function, due to the proximity of the cyst to the hypothalamic-pituitary area. A total of 30 patients (17 boys) with cyst diagnosed at 4.3 +/- 1 years were routinely evaluated at 5.4 +/- 1 years; 24 of them had one...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051285
更新日期:2000-05-01 00:00:00
abstract::Lung ultrasound (LUS) has been described as a useful tool in early prognosis of several respiratory diseases of the newborn, especially preterm infant newborns (PTNB) with respiratory distress syndrome (RDS), but still, it is not a standard of care in many neonatal units. We have conducted a descriptive, prospective s...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03470-0
更新日期:2020-01-01 00:00:00
abstract::This article summarizes some research on the development of motion perception in early infancy. The sensitivity for slow and rapid motion was studied with 1-month-old and 3-month-old babies. The findings suggest that there are different developmental courses for the detection of slow and rapid motion. The ability to d...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02191506
更新日期:1995-01-01 00:00:00
abstract::Chlorambucil (CHL) was used in combination with prednisolone in the treatment of nine children with frequently relapsing nephrotic syndrome. Serial electroencephalograms were obtained to evaluate CHL central nervous toxicity, before, during and after treatment with this agent. EEG abnormalities were observed in two of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00451963
更新日期:1985-09-01 00:00:00
abstract:INTRODUCTION:Impaired vitamin K status in cystic fibrosis (CF) has been considered as a newly emerged pathogenetic factor for reduced bone mineral density (BMD). OBJECTIVES:Our aim was to evaluate the effectiveness of vitamin K supplementation in managing bone formation abnormalities in children and adolescents with C...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0132-1
更新日期:2006-08-01 00:00:00
abstract:UNLABELLED:Recent evidence has demonstrated the prenatal initiation of childhood obesity as epidemiological studies and animal studies have illustrated the effect of the intrauterine milieu for subsequent development of childhood obesity. This study investigates the relationship between severe childhood obesity and the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1949-z
更新日期:2013-06-01 00:00:00
abstract::This study gives, for the first time, an estimate of the incidence and the cost of rotavirus infection in day care centers in Lyon, France. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-006-0187-z
更新日期:2006-12-01 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:In a prospective study, brain ultrasound scans were performed in 42 newborns (median birth weight 1700 g, range 1020-3720 g; gestational age 32 weeks, 26-36) to reveal peri-intraventricular haemorrhage (PIVH) (grades I-IV) as well as echodensities (ED) and/or periventricular leucomalacia (PVL). ECG and arter...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01972894
更新日期:1994-11-01 00:00:00
abstract::We report the case of 5-week-old male infant who presented as a 'near miss cot death'. He had the immunodeficient syndrome of defective neutrophil mobility and delayed umbilical cord separation. He was shown to have staphylococcal endocarditis with a large vegetation on the mitral valve, and acute obstruction of the m...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02429063
更新日期:1986-12-01 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::Plasma vitamin E levels were determined serially in preterm infants surviving respiratory distress syndrome (RDS) and in premature infants without RDS (control). Vitamin E intakes of the RDS and control infant group were not significantly different. The results of the study show that preterm infants surviving RDS have...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00446056
更新日期:1986-08-01 00:00:00
abstract::Despite the sudden and often alarming clinical manifestations of ITP, few patients in the pediatric age group develop serious complications or long-term sequellae. Conservative therapy, without use of pharmacologic or surgical intervention, is the most convenient, safe, and cost-effective approach in the vast majority...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02343213
更新日期:1987-03-01 00:00:00
abstract::Fourteen children aged 9 months-4 years with moderate to severe mental retardation and varying neurologic lesions were referred for severe and continuous nocturnal sleep disturbances and very abnormal day/night schedules. All children had previously been given hypnotic medications and behavioral treatments which had l...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01953995
更新日期:1993-09-01 00:00:00
abstract::One hundred and twenty two cases of severe hyaline membrane disease are reported. 68 of them survived (57%). Adverse clinical, radiological and laboratory factors, and their effects on the early mortality rate, are analysed with particular reference to the referring centers, delay in admission, transport and the criti...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442059
更新日期:1978-03-13 00:00:00
abstract::We evaluated chronic kidney disease (CKD) (proteinuria or estimated glomerular filtration rate < 60 mL/min/1.73 m2) or hypertension prevalence in 110 children with juvenile idiopathic arthritis (JIA). CKD and hypertension were clustered under the umbrella term of "renal injury". Median age at the last visit was 14 yea...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03792-4
更新日期:2021-02-01 00:00:00
abstract:UNLABELLED:Alleviation of suffering is considered to be one of the important goals of medical interventions. Understanding of what constitutes suffering in children admitted to a pediatric intensive care unit (PICU) is lacking. This study aims to assess perceptions by parents, doctors, and nurses of suffering in critic...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2440-1
更新日期:2015-05-01 00:00:00
abstract::Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442433
更新日期:1979-11-01 00:00:00
abstract:UNLABELLED:The importance of ultrasonography after the first febrile urinary tract infection has been recently challenged. The aim of this study was to evaluate the role of ultrasonography in detection of significant non-reflux abnormalities in the kidneys and the urinary tract, and to determine whether these findings ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0113-4
更新日期:2006-08-01 00:00:00
abstract:UNLABELLED:In a Swiss screening programme for detection of congenital adrenal hyperplasia (CAH), 27 of over 120,000 newborns examined from 1992 to 1994 were further studied because of persistingly high 17 alpha hydroxyprogesterone (17OHP). Out of 27, 11 were later confirmed to have CAH by specific gas chromatography of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02282880
更新日期:1996-11-01 00:00:00
abstract::Total serum LDH activity and isoenzyme distribution were studied in children with neuroblastoma at the time of hospital admission. The total LDH was determined in 26 cases, and 20 (77%) of them showed elevation of its activity. On the other hand, in 9 of these 26 cases, the isoenzyme distribution was determined along ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442638
更新日期:1976-09-01 00:00:00
abstract::Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/BF02072628
更新日期:1991-07-01 00:00:00
abstract:UNLABELLED:Intravenous immunoglobulin (IVIG) is currently the standard treatment for Kawasaki disease (KD). Although IVIG therapy is generally well tolerated, several minor adverse reactions have been reported. We report a patient with KD treated with IVIG, who developed a cutaneous reaction in the convalescent phase (...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1898-y
更新日期:2013-03-01 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::To clarify the relationship between hyperbilirubinaemia and abnormal results of biochemical liver function tests in infants with breast milk jaundice (BMJ), 58 breast-fed infants with indirect hyperbilirubinaemia were enrolled in this study. Sera obtained from the above infants were subjected to routine liver function...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955928
更新日期:1991-03-01 00:00:00
abstract:UNLABELLED:Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already be...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-012-1785-6
更新日期:2013-02-01 00:00:00
abstract::We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958427
更新日期:1991-05-01 00:00:00
abstract::To evaluate the ambulatory management of ileo-colic intussusception in infants and children, a retrospective study over 3 years of 113 children treated for ileo-colic intussusception in a paediatric emergency department was undertaken with the aim of shortening the length of stay. A total of 113 children aged 10 days ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051184
更新日期:1999-09-01 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