Abstract:
:Hemophagocytic lymphohistiocytosis (HLH) and Langerhans cell histiocytosis (LCH) are members of a group of rare heterogenous disorders, the histiocytoses, characterized by uncontrolled accumulation of pleomorphic infiltrates of leukocytes. The etiology of these diseases is mainly unknown. CD45 is a hemopoietic cell specific tyrosine phosphatase essential for antigen receptor mediated signaling in lymphocytes and different patterns of CD45 splicing are associated with distinct functions. Recently a polymorphism (C77G) in exon 4 of CD45 causing abnormal CD45 splicing and a point mutation affecting CD45 dimerization were implicated in multiple sclerosis in humans and lymphoproliferation and autoimmunity in mice respectively. Here we show that two patients with HLH exhibited abnormal CD45 splicing caused by the C77G variant allele, while a further 21 HLH patients have normal CD45. We have also examined 62 LCH patients and found three to have the C77G mutation. Peripheral blood thymus-derived (T) CD8(+) cells from normal individuals carrying the C77G mutation show a significant decrease in the proportion of cells expressing L-selectin and increased frequency of cells with LFA-1(hi) expression. It remains to be established whether C77G is a contributing factor in these histiocytic disorders.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Boxall S,McCormick J,Beverley P,Strobel S,De Filippi P,Dawes R,Klersy C,Clementi R,De Juli E,Ferster A,Wallace D,Aricò M,Danesino C,Tchilian Edoi
10.1203/01.PDR.0000106803.15344.72subject
Has Abstractpub_date
2004-03-01 00:00:00pages
478-84issue
3eissn
0031-3998issn
1530-0447pii
01.PDR.0000106803.15344.72journal_volume
55pub_type
杂志文章abstract::Previous studies have shown that early life stress in the form of intermittent maternal separation (MS) predisposes adult rats to develop stress-induced intestinal mucosal dysfunction and visceral hypersensitivity. However, the mechanism involved in the functional abnormalities is unclear. Our aim was to study immatur...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000190577.62426.45
更新日期:2006-01-01 00:00:00
abstract::To examine the mechanisms of autoregulatory impairment in meningitis, we studied the effects of Haemophilus influenzae type b (Hib) on pial vessels during hemorrhagic hypotension in rats, using a cranial window technique. We prepared cranial windows in barbiturate-anesthetized, mechanically ventilated rats. Artificial...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199301000-00010
更新日期:1993-01-01 00:00:00
abstract::A 2-month-old white girl had severe liver disease (but without signs of hepatic necrosis, infection or cirrhosis), urinary cytomegalovirus, transient reduction of alpha 1-antitrypsin concentration and transient abnormal alpha 1-antitrypsin phenotype that were not present in her parents. Five serum specimens that were ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198203000-00006
更新日期:1982-03-01 00:00:00
abstract::Serum insulin, growth hormone (GH), insulin-like growth factors (IGFs) I and II, cortisol, and albumin concentrations were measured in 15 children with kwashiorkor, 15 with marasmic-kwashiorkor, and 21 with marasmus, before and in the survivors, after nutritional rehabilitation, as well as in 10 underweight and eight ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198611000-00012
更新日期:1986-11-01 00:00:00
abstract::Diarrheal disease is a worldwide problem that still causes significant morbidity and mortality among children. Currently, oral rehydration solution (ORS) is the standard of care for acute diarrhea in pediatric patients. Although effective in reducing mortality, ORS does not alleviate diarrheal symptoms, thus reducing ...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.295
更新日期:2018-03-01 00:00:00
abstract::Continuous EEG monitoring has not been used widely in neonatal intensive care, especially in the care of extremely premature infants, probably in part because of a lack of a reliable quantitative method. The purpose of this study was to quantify the EEG of the very premature infants just after birth by using spectral ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000153868.77623.43
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:In Celiac disease (CD), cytoskeletal integrity of intestinal cells is disrupted by gliadin exposure. This study investigates the role of heat shock protein (Hsp)70 during cytoskeletal recovery in CD by assessing its induction and effects on junctional proteins. METHODS:Using an in-vitro model of CD, cytoske...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2015.112
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Histomorphometry of endomyocardial biopsies is one component of arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnosis, although there is a need for stricter diagnostic criteria for this disease in pediatrics. The clinical utility of biopsy analysis as a component of ARVC diagnosis was evaluated in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0093-x
更新日期:2018-10-01 00:00:00
abstract::The purpose of this investigation was to determine whether maximal oxygen consumption (VO2max) differed between two selected groups of black and white children and whether a difference existed to determine whether it was related to hematologic profiles, body composition, and/or physical activity/inactivity level. Fort...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000141521.77229.8D
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:Toll-like receptor (TLR)-mediated inflammation may contribute to neonatal sepsis, for which pentoxifylline (PTX), a phosphodiesterase inhibitor that raises intracellular cAMP, is a candidate adjunctive therapy. We characterized the anti-inflammatory effects of PTX toward TLR-mediated production of inflammato...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.6
更新日期:2017-05-01 00:00:00
abstract::The aim of the present study was to determine the proportion of gamma/delta T-lymphocytes and CD16/CD56 (CD3- and CD3+) cells in the peripheral blood of children and adolescents with Graves' disease (GD; n = 27; mean age, 15.5 +/- 5.1 y) and nontoxic nodular goiter (NTNG; n = 25; mean age, 15.2 +/- 5.7 y), in comparis...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000076663.94850.44
更新日期:2003-09-01 00:00:00
abstract:BACKGROUND:Earlier identification of children with prenatal alcohol exposure (PAE) remains a challenge. The objective of this study was to identify neurobehavioral (NB) outcomes associated with PAE in infants. METHODS:This manuscript evaluates NB outcomes at 6.33±1.12 months of age in 93 infants (39 PAE and 54 No-PAE)...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2018.26
更新日期:2018-09-01 00:00:00
abstract::In eight newborn lambs, the adaption of blood to acidosis was studied by sequential measurements of P50 in vitro (pH 7.4; 37 degrees C) and P50 in vivo (animal's pH and temperature, 39 degrees C) during the course of HCl-induced metabolic acidosis. The benefit of the change in both P50 on tissue oxygen tension was stu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1981-05-01 00:00:00
abstract::Studies using stable isotopically labeled glucose and palmitate as precursors of pulmonary surfactant synthesis have demonstrated slow surfactant turnover in premature infants with respiratory distress syndrome (RDS). However, only limited data about surfactant turnover are available for term infants. Because acetate ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000075084.56255.E0
更新日期:2003-08-01 00:00:00
abstract::Deficient quantity of amniotic fluid causes fetal guinea pig lung hypoplasia. Oligohydramnios that lasts only 5 days in early gestation is sufficient to reduce fetal lung growth significantly. We quantitated lung structural alterations at 50 days gestation (term is 67 days) of fetal guinea pigs whose amniotic fluid wa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00013
更新日期:1986-10-01 00:00:00
abstract::Exposure of neonatal rats to > or = 95% O2 for 2 wk, a widely used model of oxidant/antioxidant interactions in neonatal lung injury, results in arrested lung growth without the dysplastic lesions observed in chronic human neonatal lung injury. To determine whether dysplastic lung cell growth would be seen at lesser O...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199606000-00001
更新日期:1996-06-01 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::Respiratory distress syndrome (RDS) due to surfactant deficiency is the most common cause of respiratory failure in preterm infants. Tremendous progress has been made since the original description that surfactant deficiency is the major cause of RDS. Surfactant therapy has been extensively studied in preterm infants ...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
doi:10.1038/pr.2016.203
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Volatile organic compounds (VOCs) are hydrocarbons that originate within different healthy and diseased tissues. VOCs can be secreted into the circulation and then excreted in the urine and faeces. In the lungs, VOCs are locally produced and can be detected in exhaled breath. VOCs can be identified using non...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-020-0828-3
更新日期:2020-03-02 00:00:00
abstract::A dietary-related deficiency of docosahexaenoic acid [C22:6(n-3)] in infant cerebral cortex has been identified. Absence or very low rates of hepatic synthesis from the essential fatty acid precursor, alpha-linolenic acid [C18:3(n-3)], in early life may have been a contributory factor. We have analyzed liver total lip...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199509000-00015
更新日期:1995-09-01 00:00:00
abstract::The fetal inflammatory response has been suggested as causal in neonatal morbidity. Serial levels of circulating cytokines were evaluated in 74 infants with a mean gestational age (GA) of 27.1 wk. Pro-inflammatory [tumor necrosis factor-alpha (TNF-alpha), interferon-gamma (IFN-gamma), IL-1 beta, IL-2, IL-6, IL-8, IL-1...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000182592.76702.E8
更新日期:2005-11-01 00:00:00
abstract::In mice, secondary alveolar septal formation primarily occurs during a brief postnatal period and is accompanied by transient expansion of the interstitial lung fibroblast (LF) population. PDGF-A, which solely signals through PDGF-receptor-alpha (PDGF-Rα), is required for expansion, but the receptor's relevant downstr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821cfb5a
更新日期:2011-07-01 00:00:00
abstract::Genetic variants of surfactant protein B (SP-B) have been associated with respiratory distress syndrome (RDS) in the prematurely born infant. We wished to determine linkage between RDS and SP-B single nucleotide polymorphisms (SNPs) [-18 (A/C), 1013 (A/C), 1580 (C/T), and 9306 (A/G)] or SP-B-linked microsatellite [(D2...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000203145.48585.2c
更新日期:2006-04-01 00:00:00
abstract::Mutations of genes involved in the innate immune system have been reported to be associated with an increased sepsis rate in adults. We determined the -159T mutation of the CD14 gene, the 896G mutation of the toll-like receptor 4 gene, the 3020insC mutation of the NOD2 gene (NOD2-3020insC), the IL-6 174G/C promoter po...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000112100.61253.85
更新日期:2004-04-01 00:00:00
abstract::Gaucher disease, the most common of the sphingolipidoses, results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45). Although type 2 (acute neuronopathic) Gaucher disease is associated with rapidly progressive and fatal neurologic deterioration, the pathophysiologic mechanisms leading to the...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200008000-00018
更新日期:2000-08-01 00:00:00
abstract::Fetal growth restriction (FGR) remains a cause of perinatal brain injury, sometimes leading to neurological and intellectual impairment. Although the mechanisms and pathophysiology of CNS injuries have not been elucidated completely, it is possible carbohydrate and energy metabolism may have an important role in the F...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821b9d7c
更新日期:2011-07-01 00:00:00
abstract::Preterm infants are exposed to frequent painful procedures and agitating stimuli over the many weeks of their hospitalization in the neonatal intensive care unit (NICU). The adverse neurobiological impact of pain and stress in the preterm infant has been well documented, including neuroimaging and neurobehavioral outc...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-019-0744-6
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is the most common systemic vasculitis syndrome primarily affecting medium-sized arteries, particularly the coronary arteries. Though KD may be associated with immunological problems, the involvement of microRNAs (miRs) has not been fully described. METHODS:We enrolled 23 KD patients a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.93
更新日期:2016-09-01 00:00:00
abstract::Premature infants are at risk for bilirubin-associated brain damage. In cell cultures bilirubin causes neuronal apoptosis and necrosis. Ibuprofen is used to close the ductus arteriosus, and is often given when hyperbilirubinemia is at its maximum. Ibuprofen is known to interfere with bilirubin-albumin binding. We hypo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181991511
更新日期:2009-04-01 00:00:00
abstract::The results of prior studies suggest that abnormalities of development and function of the fetal adrenal occur in pregnancies complicated by intrauterine fetal growth retardation (IUGR). In the present investigation, we sought to extend such studies by matching IUGR infants with normally grown infants of women in whom...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199406000-00003
更新日期:1994-06-01 00:00:00