Abstract:
:Three infants with severe combined immunodeficiency and adenosine deaminase (ADA) deficiency were treated by T-cell depleted bone marrow transplantation (BMT), using human leukocyte antigen (HLA)-haploidentical parents as donors. In the first patient, two initial transplants failed to engraft and no change of the immunodeficiency was observed. In order to overcome this graft resistance, cytoreductive conditioning was used prior to a third transplant. In the other two patients, similar conditioning was used prior to initial transplants. In all three patients, complete and permanent immunological reconstitution was observed and they survive from 3.5 to 5 years after transplantation. In biopsies obtained from iliac bones prior to BMT, osteochondral abnormalities characteristic of ADA-deficiency were noted in all three patients. After successful transplantation, these abnormalities had completely resolved. Our results demonstrate that cytoreductive conditioning prior to HLA-haploidentical BMT is useful in order to obtain stable engraftment and reversal of abnormalities associated with ADA deficiency.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Bluetters-Sawatzki R,Friedrich W,Ebell W,Vetter U,Stoess H,Goldmann SF,Kleihauer Edoi
10.1007/BF01995857subject
Has Abstractpub_date
1989-11-01 00:00:00pages
104-9issue
2eissn
0340-6199issn
1432-1076journal_volume
149pub_type
杂志文章abstract::GB virus C (GBV-C) is a blood-borne flavivirus. The prevalence of GBV-C viremia among healthy adults is 0.5% to 4% and, to date, no disease has been definitely associated with GBV-C infection. We conducted a cross-sectional study to evaluate GBV-C viremia prevalence in a group of 327 healthy children with normal alani...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0624-7
更新日期:2008-09-01 00:00:00
abstract::We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00538945
更新日期:1979-06-28 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::The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02190682
更新日期:1994-09-01 00:00:00
abstract::The time of cord clamping in intrauterine growth-restricted (IUGR) neonates remains an area of uncertainty. This assessor-blinded randomized controlled trial compared the effects of delayed cord clamping (DCC) with early cord clamping (ECC) on the systemic blood flow (SBF) and cerebral hemodynamics in IUGR neonates of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-021-03959-7
更新日期:2021-01-21 00:00:00
abstract:UNLABELLED:Extremely immature newborns develop a self-limiting normal anion gap metabolic acidosis in early life. This study examined the natural history of this acidosis in a population of infants of gestation less than 26 weeks in the first 14 days of life. The acidosis was maximal on day 4 with a mean base deficit o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2364-9
更新日期:2015-01-01 00:00:00
abstract::Exchange transfusion using a peripheral artery and vein was carried out 18 times in 17 newborn infants. The arteries use to withdraw blood were the radial [13], the ulnar [3] an the posterior tibial [2]. Infusion of blood was carried out simultaneously through a peripheral vein. There was no mortality or morbidity dir...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443258
更新日期:1981-11-01 00:00:00
abstract::Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-mont...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-016-2793-8
更新日期:2016-12-01 00:00:00
abstract::Iodine deficiency is well documented in Belgium in adults including pregnant women, adolescents, schoolchildren, and neonates, but no data are available in the age group 6 months-3 years. We investigated the status of iodine nutrition in 111 healthy subjects in this age group in an attempt to evaluate the risk of brai...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000707
更新日期:2001-04-01 00:00:00
abstract::It is not clear if children with high fever are at increased risk for serious bacterial infection (SBI). Our aim was to systematically review if children suffering from high fever are at high risk for SBI. Our data sources were Embase, Medline, and Pubmed; from their inception until the last week of March 2017. The st...
journal_title:European journal of pediatrics
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00431-018-3098-x
更新日期:2018-03-01 00:00:00
abstract::The four-principles approach of Beauchamp and Childress has had a huge influence in many areas of medicine, including Pediatrics. There is a risk that such universalist principles fail to take into account cultural differences. This is an important point but there is a need to see the more nuanced aspects of the appro...
journal_title:European journal of pediatrics
pub_type: 评论,社论
doi:10.1007/s00431-009-0971-7
更新日期:2009-11-01 00:00:00
abstract:UNLABELLED:The fatty acid composition of human breast milk was determined longitudinally after term and preterm delivery by high resolution gas liquid chromatography. Milk samples were obtained at days 5, 10, 20 and 30 after term (n = 38) or preterm (n = 19) delivery. The saturated fatty acids C10:0 and C12:0 and the p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050573
更新日期:1997-02-01 00:00:00
abstract::Proper nutrition throughout childhood and adolescence is crucial for normal bone development. We investigated whether adherence to Christian Orthodox Church fasting is characterized by periodic avoidance of animal foods (including dairy products), since childhood affects stature or bone health in young adults. This cr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-019-03542-1
更新日期:2020-04-01 00:00:00
abstract:UNLABELLED:Methanol poisoning is not frequently observed in children; however, without treatment, serious intoxication can be complicated by visual impairment, coma, metabolic acidosis, respiratory and circulatory insufficiency and death. Treatment in a paediatric intensive care is therefore compulsory. Methanol is met...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-004-1588-5
更新日期:2005-03-01 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::We studied the effects of an alginate compound (Gaviscon) on the frequency and the duration of gastroesophageal reflux (GOR) episodes in children. Twenty infants and children with characteristic symptoms of GOR were divided at random into two groups which were given either Gaviscon (ten patients, mean age: 21 months) ...
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/BF02343223
更新日期:1987-03-01 00:00:00
abstract::Effective management of pain remains an important indicator of the quality of care provided to neonates. Since the review of McIntosh in this journal over a decade ago, an extensive number of papers on assessment, prevention, and treatment of pain have been reported. In addition, preclinical insights into neurodevelop...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-009-0932-1
更新日期:2009-07-01 00:00:00
abstract::A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensat...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442334
更新日期:1982-02-01 00:00:00
abstract:UNLABELLED:The need to reappraise sedation policy is dictated by newer noninvasive imaging modalities. In this study we evaluate the safety and efficacy of rectally-administered thiopental in children undergoing MRI. Eighty-three consecutive patients with congenital heart disease (mean age 2.9 years, SD 2.5) undergoing...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::We report a 28-day-old female infant with pertussis presenting as severe acute bronchiolitis with cyanosis. On admission, the patient's symptoms were similar to those of acute bronchiolitis. However, occasional apneic episodes with cyanosis and peripheral lymphocytosis suggested neonatal pertussis and prompted us to e...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0744-8
更新日期:2009-03-01 00:00:00
abstract::Two matched groups of term newborn infants with idiopathic jaundice were subjected to intensive double direction green or blue light phototherapy (PT). The efficacy of treatment was expressed as rate of decline of serum bilirubin concentration after 6, 12 and 24 h of light exposure. More rapid response was obtained us...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF01955530
更新日期:1991-02-01 00:00:00
abstract:: ...
journal_title:European journal of pediatrics
pub_type: 信件
doi:10.1007/s00431-018-3217-8
更新日期:2018-11-01 00:00:00
abstract::To elucidate the basis for the recurrent infections in patients with glycogen storage disease (GSD) Ib we tested polymorphonuclear leukocyte (PMN) function in one patient. Bactericidal capacity and phagocytosis-induced O2 consumption were reduced. Also, phorbol myristate acetate-stimulated superoxide production and gl...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442674
更新日期:1983-09-01 00:00:00
abstract::Twenty-eight children whose parents reported sleep apnoea were investigated. In 15 infants apnoeic periods during sleep could be confirmed during clinical observation. Ventilatory responses to CO2 were measured in all infants, in 23 during sleep in 5 only when awake. A very wide range of CO2 sensitivities was found. I...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496030
更新日期:1986-04-01 00:00:00
abstract::Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with Poland syndrome, a common malformation characterized by unilateral hand anomaly and ipsilateral aplasia of the inferior head of the pectoralis major muscle. A marked decrease of the velocity of the systolic in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496922
更新日期:1978-05-22 00:00:00
abstract:UNLABELLED:Adolescents are becoming more independently responsible for their medication regimen; therefore, adolescence is a crucial period to address medication beliefs, as many of the beliefs may persist into adulthood and can impair adherence and willingness to continue a prescribed therapy. Within this study, we ai...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2211-4
更新日期:2014-04-01 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::Tinea of the nails is not an exclusively adult pathology. The pediatrician should include this entity in the differential diagnosis. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0332-8
更新日期:2007-09-01 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:UNLABELLED:In phenylketonuria, compliance and diet is a difficult issue; it is hard to quantify and is under-researched. It is influenced by many factors. Failure to consume prescribed quantity of protein substitute has been commonly reported and is probably affected by their acceptability, format and timing of adminis...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014375
更新日期:2000-10-01 00:00:00