Abstract:
:A patient is reported who presented in the newborn period with an unusual combination of congenital lactic acidosis and bilateral calcifications in the adrenal medulla, visible on standard abdominal x-ray and ultrasound examination. At birth, the proband was hypotonic and dystrophic. She developed respiratory insufficiency, cardiomegaly, and hepatomegaly and died at the age of 38 d. Examination of postmortem heart muscle revealed multiple areas of myocardial infarction with dystrophic calcifications. In the medulla of the adrenal glands, foci of necrosis and calcifications, and in the liver, multiple zones of necrosis and iron deposition were detected. Biochemical analysis in heart muscle revealed a decreased activity of complex IV of the oxidative phosphorylation (OXPHOS) and in liver a combined deficiency involving the complexes I, III, IV, and V. The findings were suggestive of a defect in biosynthesis of the mitochondrially encoded subunits of the OXPHOS complexes. Extensive analysis of the proband's mitochondrial DNA revealed neither pathogenic deletions and point mutations nor copy number alterations. Relative amounts of mitochondrial transcripts for the ribosomal mitochondrial 12S rRNA (12S) and mitochondrial 16S rRNA (16S) were significantly increased suggesting a compensatory mechanism involving the transcription machinery to low levels of translation. The underlying molecular defect has not been identified yet.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Zecic A,Smet JE,De Praeter CM,Vanhaesebrouck P,Viscomi C,Van Den Broecke C,De Paepe B,Lohse P,Martin JJ,Jackson JG,Campbell CR,De Meirleir LJ,Zeviani M,Seneca SH,Lissens W,Van Coster RNdoi
10.1203/PDR.0b013e3181b40a80subject
Has Abstractpub_date
2009-09-01 00:00:00pages
317-22issue
3eissn
0031-3998issn
1530-0447journal_volume
66pub_type
杂志文章abstract::Previous studies suggest that the endotoxin lipopolysaccharide (LPS) may have dual effects on brain damage induced by hypoxia-ischemia (HI) in 7-d-old rats, depending on the exposure paradigm. Although a 4-h interval between LPS administration and HI results in sensitization to HI brain injury, tolerance is observed w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000191140.87314.ce
更新日期:2006-01-01 00:00:00
abstract::Hypoxic-ischemic injuries can evolve over several days, and recent studies suggest that further neuronal death may occur 6 to 72 h later. Because cerebral temperature is an important determinant of outcome during the primary injury, we investigated the effect of temperature, on outcome, during the later phases of inju...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199604000-00005
更新日期:1996-04-01 00:00:00
abstract::BackgroundThe mechanisms underlying aberrant activation of intestinal Toll-like receptor 4 (TLR4) signaling in necrotizing enterocolitis (NEC) remain unclear. In this study, we examined the role of single-immunoglobulin interleukin-1 receptor-related molecule (SIGIRR), an inhibitor of TLR signaling, in modulating expe...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.211
更新日期:2018-01-01 00:00:00
abstract::This study was aimed at describing abdominal and laryngeal muscle responses to upper airway occlusion (UAO) in early life and the effect of sleep states on these responses. Twelve nonsedated, 9-26-d-old lambs were studied. We simultaneously recorded 1) airflow (pneumotachograph + face mask); 2) sleep states (electroco...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199706000-00011
更新日期:1997-06-01 00:00:00
abstract::Mother's milk represents a foundational step in the proper development of newborn immunity. This is achieved, in part, through the action of numerous regulatory proteins such as soluble cluster of differentiation 14 (sCD14) found in significant quantities in human milk (~25-50 μg/mL). In adults, CD14 stimulates cytoki...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181f70f21
更新日期:2010-12-01 00:00:00
abstract::There are substantial alterations in fuel homeostasis immediately after birth. Leptin is a putative regulator of energy metabolism. Consequently, the aim of this study was to examine whether there are changes in circulating leptin concentrations during the early postnatal period. Umbilical cord mixed blood samples wer...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199902000-00007
更新日期:1999-02-01 00:00:00
abstract::To examine uridine diphosphate hexose (UDPhexose) content of cells that have more complete metabolic patterns than erythrocytes, which have been commonly used in the study of galactosemia, the concentrations of uridine diphosphate galactose (UDPgalactose) and uridine diphosphate glucose (UDPglucose) were determined in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199411000-00014
更新日期:1994-11-01 00:00:00
abstract::This report deals with quantitative and qualitative investigations of alkaline phosphatase in two unrelated infants with the severe infantile form of hypophosphatasia. Both affected infants had no detectable leukocyte alkaline phosphatase activities and both sets of parents and one sibling tended to have low but varia...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197607000-00004
更新日期:1976-07-01 00:00:00
abstract::We have developed a method for measuring oxygen consumption (Vo2) in preterm infants in their normal incubator environment over prolonged periods. The results of measurements made over 24 h in 18 infants are presented. In normally grown infants, the mean Vo2 was 9.66 +/- 1.25 liters/kg X 24 h (SD) (6.71 +/- 0.87 ml/kg...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198410000-00003
更新日期:1984-10-01 00:00:00
abstract::Reduced expression of bone morphogenetic protein receptors (BMPR) has been implicated in the pathogenesis of pulmonary hypertension (PH), but changes in the intracellular signaling pathway of BMPR have not been fully understood. We hypothesized that BMPR signaling in pulmonary endothelial cells is altered during the d...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e3180332cba
更新日期:2007-04-01 00:00:00
abstract:INTRODUCTION:Dietary fish oil (FO) was reported to lower fecal fat excretion in a weanling rat model of short bowel syndrome (SBS) after ileocecal resection (ICR), and to induce changes in secretion and synthesis of bile acid (BA) in adults. We hypothesized that dietary FO, as compared with corn oil (CO), increases int...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.41
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:A lack of consensus exists as to the timing of kidney biopsy in children with steroid-dependent nephrotic syndrome (SDNS) where minimal change disease (MCD) predominates. This study aimed at examining the applicability of a biomarker-assisted risk score model to select SDNS patients at high risk of focal seg...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0277-z
更新日期:2019-03-01 00:00:00
abstract::The role of microbial colonization is indispensable for keeping a balanced immune response in life. However, the events that regulate the establishment of the microbiota, their timing, and the way in which they interact with the host are not yet fully understood. Factors such as gestational age, mode of delivery, envi...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2015.54
更新日期:2015-06-01 00:00:00
abstract::To investigate the functional maturity of the lungs of infants with pulmonary hypoplasia, we measured the expression of surfactant apoprotein-A (SP-A) in the autopsied lungs. Autopsied lungs were taken from 16 infants who died at birth or soon after. A lung-to-body weight ratio of less than 1.2% was defined as pulmona...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200011000-00020
更新日期:2000-11-01 00:00:00
abstract::We have previously shown that milk sensitization aggravates intestinal dysfunction in the malnourished guinea pigs, suggesting that it may also impair the recovery from malnutrition. To test this hypothesis, the growing guinea pigs were malnourished by feeding only maize for 7 d and then were refed for 21 d with a bal...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199812000-00018
更新日期:1998-12-01 00:00:00
abstract:BACKGROUND:For the second aim of the Kellogg Foundation grant, this double-blind RCT investigated the impact of plasma vitamin D metabolite 25-hydroxyvitamin D (25(OH)D) on plasma immune-mediators during pregnancy. We hypothesized that higher 25(OH)D concentrations would associate with reduced pro-inflammatory and incr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0885-7
更新日期:2020-04-20 00:00:00
abstract::Heart rate variability (HRV) is reported increasingly in pediatric research, but different strategies used to identify and manage potential outlier beats impact HRV parameter values in adults and animals. Do they in pediatrics? To compare the impact of different strategies to identifying and managing outliers, we used...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318123fbcc
更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:Neonatal mortality and morbidity are increasingly recognized as important globally, but detailed estimates of neonatal morbidity from conditions and long-term consequences are yet to be published. METHODS:We describe the general methods for systematic reviews, meta-analyses, and modeling used in this supple...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章
doi:10.1038/pr.2013.203
更新日期:2013-12-01 00:00:00
abstract::Studies were designed to develop an animal model for the syndrome of hypochloremic, hypokalemic metabolic alkalosis (HMA), and failure to thrive in infants due to intake of chloride-deficient formula. Littermate canine puppies, 2 wk old, were fed soy formula containing normal chloride, 20 mEq/liter (NC, n = 5), or low...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198705000-00015
更新日期:1987-05-01 00:00:00
abstract::Up to 20% of pregnant women smoke and there is indirect evidence that certain tobacco-specific metabolites can cross the placental barrier and are genotoxic to the fetus. The presence of micronuclei results from chromosome damage and reflects the degree of underlying genetic instability. Fetal blood was obtained from ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000228327.63820.41
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND:Postnatal glucocorticoid therapy in the treatment of chronic lung disease benefits lung function, however it adversely affects brain development. We hypothesized that combined postnatal glucocorticoid and statin therapy diminishes adverse effects of glucocorticoids on the developing brain. METHODS:On postna...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.152
更新日期:2013-12-01 00:00:00
abstract::BackgroundPoor aerobic fitness is associated with worsening of asthma symptoms, and fitness training may improve asthma control. The mechanism linking fitness with asthma is not known. We hypothesized that repeated bouts of exercise would lead to a downregulation of glucocorticoid receptor (GR) expression on circulati...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.66
更新日期:2017-08-01 00:00:00
abstract::To determine the developmental changes in the myocardial current during fetal life, and to evaluate the clinical usefulness of magnetocardiography for prenatal diagnosis of cardiac hypertrophy or enlargement, we approximated the magnitude of the one-current dipole of the fetal heart using fetal magnetocardiography (fM...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200108000-00013
更新日期:2001-08-01 00:00:00
abstract::In studies in the newborn infant, it is often assumed that there are similarities in airflow in successive breaths, and, therefore, it is only necessary to measure parameters in a small number of breaths. However, other studies have shown considerable variability in breathing patterns in successive breaths. It was, th...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200007000-00011
更新日期:2000-07-01 00:00:00
abstract::High speed cinemicrographs reveal that the ciliary configuration and beat pattern of rabbit tracheal cilia differ significantly from classid descriptions, although the basic forward and return pattern is still observed. The tracheal cilia are short and stout (about 6 mum in length) and are of a slightly bent original ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197602000-00014
更新日期:1976-02-01 00:00:00
abstract::Antigenic analysis of neuroblastoma cells was performed by autologous typing and indirect immunofluorescent test combined with absorption tests. Serum of a patient with neuroblastoma before treatment showed weak reactivity with cultured autologous neuroblastoma cells, while serum obtained from the same patient 3 month...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00001
更新日期:1986-10-01 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::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::Delivery of M. nemestrina at 80% of normal gestation provides a population of neonates at high risk for hyaline membrane disease (HMD). The diagnosis of HMD was made by the presence of reticulogranular densities and air bronchograms on chest radiographs. Patchy atelectasis was seen in the lungs of animals assigned by ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197905000-00017
更新日期:1979-05-01 00:00:00
abstract::Conversion of adenosine to inosine is decreased in adenosine deaminase (ADA)-deficient fibroblasts at all concentrations of adenosine tested. Adenosine is not differentially toxic to ADA-deficient fibroblasts except at very high (5 X 10(-4) -1 X 10(-3) M) adenosine levels. Conversion of [14C] adenosine to GTP is not d...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197607000-00002
更新日期:1976-07-01 00:00:00