Abstract：
:We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Tosson H,Rose SR,Gartner LAdoi
10.1007/s00431-011-1600-9subject
Has Abstractpub_date
2012-03-01 00:00:00pages
521-9issue
3eissn
0340-6199issn
1432-1076journal_volume
171pub_type
杂志文章abstract：BACKGROUND:Calcaneal apophysitis, or Sever's disease, is a traction apophysitis. It is a frequent cause of heel pain in children. Knowledge about the exact incidence of calcaneal apophysitis in the general population, however, is lacking. DESIGN:Cross-sectional study. METHODS:From 34 general practices, records of pat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2219-9
更新日期：2014-05-01 00:00:00
abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00491922
更新日期：1985-05-01 00:00:00
abstract：UNLABELLED:We describe the case of a 6-year-old girl brought to the emergency department for the sudden onset of anticholinergic syndrome after the ingestion of a few home-made partially debittered lupine beans. She complained of blurry vision, headache, photophobia and nausea. No specific treatment was needed, and the...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2088-2
更新日期：2014-12-01 00:00:00
abstract：:A mother carrying a fetus affected with 21-hydroxylase deficiency received prenatal treatment with dexamethasone (0.5 mg, tid, p.o.) started from the very beginning of the 8th week of gestation. Prenatal diagnosis had to rely on amniocentesis with karyotyping and steroid hormone determination, because HLA and DNA data...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02190657
更新日期：1994-08-01 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
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：:A bulging fontanelle due to benign increased intracranial pressure is not generally recognized as a manifestation of nutritional rickets but should be considered in the appropriate clinical setting. Two children who we saw presented with bulging anterior fontanelles were found to have pseudotumor cerebri in associatio...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442144
更新日期：1985-01-01 00:00:00
abstract：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01956423
更新日期：1994-05-01 00:00:00
abstract：:It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-009-1126-6
更新日期：2010-07-01 00:00:00
abstract：UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310100840
更新日期：2001-11-01 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：:Two children with congenital cytomegalovirus infection and intracerebral echogenicities were investigated by computer sonography and colour Doppler imaging (CDI). By simultaneous imaging of brain tissue and CDI, blood flow within the stripe-like echogenicities of the basal ganglia was demonstrated. Using CDI the echog...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959476
更新日期：1990-11-01 00:00:00
abstract：:Acute pharyngitis is one of the most frequent causes of primary care physician visits; however, there is no agreement about which is the best strategy to diagnose and manage acute pharyngitis in children. The aim of the current study was to evaluate the cost-effectiveness of the recommended strategies to diagnose and ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1410-0
更新日期：2011-08-01 00:00:00
abstract：:Serum lysozyme activity was measured in samples from children with acute leukemia, malignant tumours, and in normal children. All children with acute lymphatic leukemia (ALL) had significantly reduced levels of lysozyme at diagnosis, and none of the children fell within the normal range. Children with ALL in complete ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00493542
更新日期：1978-04-20 00:00:00
abstract：UNLABELLED:A regional surveillance study was carried out in children with recurrent acute otitis media (AOM) to determine the antimicrobial susceptibility of three common AOM pathogens. Susceptibility to relevant antimicrobial agents was determined on 149 Streptococcus pneumoniae, 246 Haemophilus influenzae and 119 Mor...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-004-1475-0
更新日期：2004-09-01 00:00:00
abstract：:The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the surgery and post-operative follow-up on behalf of the intraoperative findings. A retrospective revi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3258-z
更新日期：2018-12-01 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：:An adapted cow's milk formula with or without supplemental taurine (480 mumol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine conc...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/BF00442699
更新日期：1988-04-01 00:00:00
abstract：UNLABELLED:Chronic lung disease (CLD) is an inflammatory disorder; in patients with other inflammatory disorders exhaled nitric oxide (NO) levels are elevated. The aim of this study was to test the hypothesis that prematurely born infants with CLD would have elevated exhaled NO levels compared to those without CLD and ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-004-1480-3
更新日期：2004-09-01 00:00:00
abstract：UNLABELLED:To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcepha...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2368-5
更新日期：2014-09-01 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：: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：:This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00431-019-03457-x
更新日期：2019-10-01 00:00:00
abstract：:By November 1994, 39 pregnancies had been completed in phenylketonuric mothers. Dietary control was post-conception in 6 and 2 of these offspring died of congenital heart disease and 1 other needed surgery for coarctation. There were no heart defects in the 34 offspring of the 33 pregnancies following preconception di...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014242
更新日期：1996-07-01 00:00:00
abstract：UNLABELLED:Click-evoked oto-acoustic emissions (CEOAE) are acoustic responses produced by the inner ear, reflecting functional auditory integrity. We studied both the success rate of the CEOAE method and the CEOAE presence in preterm infants during their stay at the Neonatal Intensive Care Unit (NICU), by analysis of t...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050986
更新日期：1998-12-01 00:00:00
abstract：:We have evaluated 46 patients with Turner syndrome by clinical examination, M-mode and two-dimensional echocardiography, dynamic exercise testing and 24 h Holter monitoring. Twelve patients (26.1%) had mitral valve prolapse and 7 patients (15.2%) had isolated non stenotic bicuspid aortic valve. Aortic root dilation wa...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441551
更新日期：1989-04-01 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：:Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We p...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-009-1134-6
更新日期：2010-04-01 00:00:00
abstract：UNLABELLED:To evaluate the indications, underlying cardiac disorders, efficacy and complications involved with implantable cardioverter-defibrillators (ICDs) in paediatric patients in The Netherlands, the records of all patients aged 18 years or younger who underwent ICD placement were reviewed retrospectively. Between...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-005-1668-1
更新日期：2005-07-01 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
