Abstract:
:Human autoimmune lymphoproliferative syndrome (ALPS) is caused by defective CD95-mediated apoptosis of lymphocytes. In most patients, heterozygous mutations within the CD95 gene are found. Mutated proteins interfere with CD95-signaling in a dominant-negative way. However, the penetrance of clinical disease is variable. We describe 13 patients out of nine families with the clinical presentation of ALPS. Eight different mutations were detected. Sensitivity to CD95-induced cell-death, assembly of the CD95-death-inducing signaling complex (DISC), and activity of initiator caspases-8 and -10 were compared in EBV-transformed B-lymphoblastoid cells of these patients. All CD95-mutations led to a reduced DISC formation and diminished initiator caspase activity upon CD95-stimulation, whereas a marked heterogeneity in sensitivity to CD95-induced killing was found. Residual apoptosis sensitivity to almost normal levels could be achieved upon cross-linking by addition of protein A. Thus, no correlation between residual CD95 sensitivity and clinical phenotype or genotype of ALPS was found. This observation is only partially explained by the variable effects of the CD95-mutations themselves. It also points to a pronounced influence of additional factors, such as modifier pathways or exogenous effects apart from the CD95 pathway in the pathogenesis of ALPS.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Fuchs H,Posovszky C,Lahr G,van der Werff ten Bosch J,Boehler T,Debatin KMdoi
10.1203/PDR.0b013e318191f7e4subject
Has Abstractpub_date
2009-02-01 00:00:00pages
163-8issue
2eissn
0031-3998issn
1530-0447journal_volume
65pub_type
杂志文章abstract::Diabetes mellitus is characterized by microangiopathy and increased angiogenic response in various organs. Basic fibroblast growth factor (bFGF) as well as vascular endothelial growth factor (VEGF) are both angiogenic and are involved in vascular endothelial cell growth. The purpose of this study was to determine seru...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199812000-00008
更新日期:1998-12-01 00:00:00
abstract::Insulin administration is the primary therapy for type 1 diabetes mellitus (T1DM). Current available insulin therapies do not successfully enable children with T1DM to reach glycemic goals without side effects such as hypoglycemia and weight gain. Pramlintide is a synthetic analog of human amylin that acts in conjunct...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e3181975ee4
更新日期:2009-04-01 00:00:00
abstract::GH insensitivity may be an inherited condition or may arise as a consequence of disease of malnutrition. Laron syndrome is the most severe form of GH insensitivity, arising from an absent or defective GH receptor. Less severe forms of GH insensitivity, however, may exist, resulting in short stature but in few other fe...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199605000-00018
更新日期:1996-05-01 00:00:00
abstract::Immunosuppressive effects of carrageenan, a high-molecular-weight polysaccharide, on antibody and T cell responses have been previously demonstrated. However, its effect on anaphylaxis is unknown. Our objectives were to test carrageenan-mediated oral tolerance induction in young mice subsequently sensitized to a commo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200103000-00018
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:Insulin-like growth factor (IGF)-I and -II play an important role in prenatal growth. During the first 2 months from birth, body fat doubles, and rapid weight gain during this time increases future risk of cardiometabolic disease. The aim of this study was to determine whether IGF measurements at birth assoc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0331-x
更新日期:2019-04-01 00:00:00
abstract::Contributions from multidisciplinary investigations have focused attention on the potential of tissue engineering to yield novel therapeutics. Congenital malformations, including cleft palate, craniosynostosis, and craniofacial skeletal hypoplasias represent excellent targets for the implementation of tissue engineeri...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e31816a743e
更新日期:2008-05-01 00:00:00
abstract::We used an in vitro assay to study and compare the growth-promotional activity of protein and nonprotein components in human milk (HM) and cow milk (CM) samples for infant strains of Bifidobacterium species. HM samples varied considerably in growth-promotion activity for Bifidobacterium bifidum var pennsylvanicus, Bif...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199102000-00021
更新日期:1991-02-01 00:00:00
abstract::The etiology of biliary atresia (BA) is not yet understood, but recent studies have shown inflammation with an up-regulated interferon (IFN) activity in the intra- and extrahepatic bile ducts of patients with BA. These findings support an inflammatory/infectious cause of BA as mimicked in our infective murine model. T...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000219860.96732.09
更新日期:2006-06-01 00:00:00
abstract::Premature birth causes significant health risks of the neonate and increases the cost for neonatal care. Urogenital infection, often caused by Gram-negative bacteria, is a known risk factor. Toll-like receptor-4 (TLR4) is the major endotoxin-signaling receptor and as such is crucial for the initiation of the innate im...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200209000-00011
更新日期:2002-09-01 00:00:00
abstract::Cerebral blood flow (CBF) was measured by means of Celabeled microspheres in infant (20-day-old) and adult (3-month-old) rats, anesthetised with Na-5-ethyl-5-(1-methylpropyl)2-thiobarbituric acid. Cerebral arteriovenous differences of acetoacetate, D-beta-hydroxybutyrate, glucose, lactate, and oxygen and brain DNA con...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197611000-00002
更新日期:1976-11-01 00:00:00
abstract::We studied choline uptake by slices of adult and 10-day-old rat intestine which were exposed on their mucosal surface to radiolabeled choline. Both neonatal and adult intestine transported choline. Choline uptake was observed in duodenum, jejunum, ileum, and colon of the adult rat. In the small intestine, choline upta...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198608000-00014
更新日期:1986-08-01 00:00:00
abstract::The odds risk of vertical transmission of human immunodeficiency virus (HIV) to preterm infants is almost four times that of term infants and may relate to maternal and neonatal factors. We characterized the competence of early nonspecific cellular immunity, namely natural killer cytotoxicity (NKC) and antibody-depend...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199609000-00021
更新日期:1996-09-01 00:00:00
abstract::The microbiome, of which the bacterial component alone (microbiota), is estimated to include 10 times more cells than human cells of the body, blooms immediately after birth and evolves in composition and complexity throughout childhood. The gut microbiome has a profound impact on gastrointestinal tract development, m...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.162
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Intranasal corticosteroids are the most efficacious anti-inflammatory medications for allergic rhinitis (AR). However, the efficacy and safety of intranasal corticosteroids in children have not yet been subject to specific research in China. The aim of this study was to investigate the efficacy and safety of...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01180-0
更新日期:2020-10-02 00:00:00
abstract::Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had ve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198203000-00019
更新日期:1982-03-01 00:00:00
abstract::Keratinocyte growth factor (KGF, or fibroblast growth factor 7) was previously reported to enhance the synthesis of surfactant in alveolar type II cells. We investigated the possible interactions between KGF and a glucocorticoid, dexamethasone (Dex), on surfactant protein (SP) gene expression. In cultured fetal rat ty...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000047840.77635.AE
更新日期:2003-02-01 00:00:00
abstract::We assessed auditory event-related potentials in small-for-gestational-age (SGA; 850 +/- 258 g, 28.9 +/- 3.3 gestational wk; n = 15) and appropriate for gestational age (AGA; 1014 +/- 231 g, 26.9 +/- 1.9 gestational wk; n = 20) preterm infants and healthy term infants (n = 22). An oddball paradigm was used with a harm...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000132750.97066.B9
更新日期:2004-08-01 00:00:00
abstract::The effect of Cis-platin on the glomerular filtration rate and effective renal plasma flow was determined using a radioisotope clearance technique in young (3 wk old) and adult (more than 12 wk old) rats. Cis-platin was administered intravenously in dosages ranging from 2.5 to 10 mg/kg body weight, either as a single ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198601000-00003
更新日期:1986-01-01 00:00:00
abstract::Spring steel coils have been used to occlude abnormal vessels in patients with a congenital heart malformation. However, long-term adverse effects of steel spring coils remain uncertain, although some long-term results appear to be good. The purpose of this study was to evaluate the angiographic and histologic results...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199804000-00016
更新日期:1998-04-01 00:00:00
abstract::Fetal growth and development is dependent on the transfer of amino acids from maternal to fetal blood across the microvillous plasma membrane (MVM) and basal plasma membrane of placental syncytiotrophoblast. The aim of this study was to determine the relationship of system A amino acid transporter (SysA) activity in M...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199906000-00005
更新日期:1999-06-01 00:00:00
abstract::Thrombocytopenia in the first days of life, in association with evidence of reduced megakaryocytopoiesis and platelet production at birth, is common in sick preterm babies. Thrombopoietin (Tpo) is the major regulator of platelet production in adults. However, these babies have low Tpo levels at birth, suggesting that ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199907000-00005
更新日期:1999-07-01 00:00:00
abstract::We have previously demonstrated that enterally administered heparin-binding EGF-like growth factor (HB-EGF) produced in Escherichia coli decreases the incidence and severity of intestinal injury in a neonatal rat model of necrotizing enterocolitis (NEC). In preparation for upcoming human clinical trials, large-scale p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181994fa0
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:Hurricane Maria struck Puerto Rico on 20 September 2017 causing catastrophic devastation. Prolonged shortage of food had been a substantial challenge to the residents after Maria. Experiencing food insecurity in utero has been associated with negative health outcomes later in life. We aim to examine whether ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0839-0
更新日期:2020-12-01 00:00:00
abstract::It seems quite likely that the normal process of fetal lung biochemical maturation is delayed by maternal diabetes and that abnormalities in the pulmonary surfactant system are involved. The appearance of PG in amniotic fluid and possibly in fetal lung is impaired or at least delayed. The same is possibly true for DSP...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-198503000-00001
更新日期:1985-03-01 00:00:00
abstract::11-Beta hydroxysteroid dehydrogenase type 2 (HSD2) oxidizes the biologically active glucocorticoid (GC), cortisol, to inactive cortisone. We characterized HSD2 gene expression and activity in human adult and fetal lung tissues and in cultured fetal lung explants, and examined the potential regulation of HSD2 in the fe...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180676cf3
更新日期:2007-07-01 00:00:00
abstract:INTRODUCTION:Cerebral white-matter (WM) abnormalities on magnetic resonance imaging (MRI) correlate with neurodevelopmental disability in infants born prematurely. RESULTS:Quantitative histological measures of WM and ventricular volumes correlated with qualitative MRI scores of WM volume loss and ventriculomegaly. Dif...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.33
更新日期:2012-02-01 00:00:00
abstract::WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 (+2) in b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200109000-00008
更新日期:2001-09-01 00:00:00
abstract::To assess the National Institutes of Health extramural activity in the area of pediatric nephrology research, the rate of submission of grant applications to the National Institutes of Health and available indicators of the quality of these applications were analyzed. This was accomplished by utilizing the grant appli...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198511000-00001
更新日期:1985-11-01 00:00:00
abstract::Several studies analyzing the immune responses in patients with cow's milk allergy (CMA) have used T-cell lines or T-cell clones that require prolonged in vitro cell culturing and may result in a switched cell phenotype and function. We investigated immune responses to beta-lactoglobulin (b-LG) in peripheral blood mon...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318232739c
更新日期:2011-12-01 00:00:00
abstract::Defective arousal mechanisms are viewed as contributory to sleep hypopnea disorders and sudden infant death syndrome. Sighs (i.e. augmented breaths) as well as startles have not traditionally been viewed as arousal-related phenomena in infants. We hypothesized that, if sighs and startles are the initial event in a seq...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199811000-00021
更新日期:1998-11-01 00:00:00