Abstract:
:The mitochondrial DNA (mtDNA) point mutation T8993G has been associated with maternally inherited Leigh syndrome (MILS) when very abundant (> 95%). MILS patients are usually severely affected and die in early infancy. In 1993, a novel T8993C point mutation was described in a juvenile form of Leigh syndrome (LS) characterized by a less aggressive clinical course. We describe four unrelated T8993C patients who had diverse, relatively mild, clinical manifestations. Polymerase chain reaction-restriction fragment length polymphorphism analysis showed that the heteroplasmic T8993C point mutation was very abundant in several tissues from all four patients (94.2 +/- 1.5%) but was less copious in blood from 20 maternal relatives. ATP production in mitochondria isolated from skin fibroblasts in three patients was normal, whereas in one patient it was decreased to 20-35% of controls. These findings suggest that the T8993C mutation is less severe than the more common T8993G mutation.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Santorelli FM,Mak SC,Vazquez-Memije ME,Shanske S,Kranz-Eble P,Jain KD,Bluestone DL,De Vivo DC,DiMauro Sdoi
10.1203/00006450-199605000-00028subject
Has Abstractpub_date
1996-05-01 00:00:00pages
914-7issue
5eissn
0031-3998issn
1530-0447journal_volume
39pub_type
杂志文章abstract::Hydrocephalus may result in loss of tissue associated with neuronal degeneration, axonal damage, and reactive gliosis. The soluble form of the anti-apoptotic regulator Fas (sFas) and the pro-apoptotic factors soluble FasL (sFasL) and activated caspase 3 were studied in the cerebrospinal fluid of infants with hydroceph...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000084114.83724.65
更新日期:2003-11-01 00:00:00
abstract::Sleep organization of infants may be influenced by differences in nutrient intakes from human milk and formula. Because sleep/awake and sleep stage patterns affect energy expenditure, we hypothesized that differences in sleep organization between breast-fed and formula-fed infants might account in part for differences...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199211000-00003
更新日期:1992-11-01 00:00:00
abstract::The transport of phosphate into jejunal brush border membrane vesicles isolated from 14- to 42-day-old rats was investigated using a rapid filtration technique. The presence of a sodium gradient enhanced phosphate uptake at all ages. Both sodium-dependent phosphate uptake and passive phosphate uptake declined with inc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198512000-00021
更新日期:1985-12-01 00:00:00
abstract::Plasma, amniotic fluid, and tissue concentrations of IGF-I were examined in nutritionally deprived, growth-retarded fetal rats to determine whether IGF-I concentration serves as a marker for nutritional status. Growth retardation was induced by 72 h of maternal fasting. Twenty-three control and 17 growth-retarded fetu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199108000-00006
更新日期:1991-08-01 00:00:00
abstract::A recently introduced test measures the concentration of transferrin receptor (TfR) in serum, which increases shortly after the onset of iron deficiency. In adults this increase reflects the degree to which tissue iron availability is impaired. We developed a fluoroimmunoassay to quantify TfR. The purpose of this stud...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199309000-00011
更新日期:1993-09-01 00:00:00
abstract::Nitric oxide plays a major role in vascular tone control. Increased blood levels of bradykinin (BK), which stimulates nitric oxide biosynthesis, occur at birth. BK effects on ductus arteriosus (DA) tone were investigated in fetal rabbit under fetal (2.5% O2 "low PO2") and neonatal (30% O2 "high PO2") conditions using ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199904010-00017
更新日期:1999-04-01 00:00:00
abstract::An association between chorioamnionitis and periventricular leukomalacia has been reported in human preterm infants. However, whether this link is causal has not been convincingly established, and the underlying molecular mechanisms remain unclear. The objective of this study was to establish a reproducible model of c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200006000-00009
更新日期:2000-06-01 00:00:00
abstract:BACKGROUND:We examined the extent of fetal lung hypoplasia and lung maturation using the amniotic lamellar body count (LBC) in congenital diaphragmatic hernia (CDH). METHODS:We obtained 30 amniotic fluid samples from human CDH cases during cesarean section. We assessed LBC, magnetic resonance imaging (MRI), and ultras...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.187
更新日期:2013-03-01 00:00:00
abstract::In the human fetus, liver macrophages appear to be the primary source of erythropoietin (Epo). Epo production shifts from the liver to peritubular cells in the kidney sometime during the 3rd trimester. Some preterm infants experience a hyporegenerative anemia that appears to be caused by inadequate Epo production. It ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199402000-00008
更新日期:1994-02-01 00:00:00
abstract::Intrauterine growth restriction (IUGR) is a recognized risk factor for neurologic deficits later in life. Abnormal fetal blood flow in the presence of fetal growth retardation helps to distinguish true fetal growth impairment from small but normally grown infants. The present study aimed to investigate the influence o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000129660.32875.09
更新日期:2004-07-01 00:00:00
abstract::Our goal for this study was to determine whether the maturation of fat absorption in neonatal life is functionally related to an increased ability to hydrolyze dietary fat, to absorb long-chain fatty acids, or to do both. In 16 preterm and in eight term neonates, the intestinal ability to hydrolyze triacylglycerols an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200201000-00011
更新日期:2002-01-01 00:00:00
abstract::The secreted protein sonic hedgehog (Shh) is essential for normal development of many organs. Targeted disruption of Shh in mouse leads to near complete absence of craniofacial skeletal elements at birth, and mutation of SHH in human causes holoprosencephaly (HPE), frequently associated with defects of derivatives of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000199911.17287.3e
更新日期:2006-03-01 00:00:00
abstract::The renal effects of endothelin-1 were investigated in 16 anesthetized and mechanically ventilated newborn rabbits. Renal blood flow and glomerular filtration rate were determined by the clearance of para-aminohippuric acid and inulin, respectively. Each animal acted as its own control. In eight newborn rabbits, a bol...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199308000-00002
更新日期:1993-08-01 00:00:00
abstract::A rabbit model of group B Streptococcal (GBS) shock was used to determine if myocardial dysfunction contributes to GBS shock and, if so, to ascertain if prostaglandins modulate this dysfunction. The infusion of heat-killed GBS (group I) produced a dramatic decrease in the first derivative of left ventricular pressure ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198506000-00001
更新日期:1985-06-01 00:00:00
abstract:BACKGROUND:There is a strong need for continuous cerebral circulation monitoring in neonatal care, since suboptimal cerebral blood flow may lead to brain injuries in preterm infants and other critically ill neonates. NeoDoppler is a novel ultrasound system, which can be gently fixed to the anterior fontanel and measure...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0535-0
更新日期:2020-01-01 00:00:00
abstract::Alterations in the pancreatic secretion of fluid and of enzymes in response to either pilocarpine (15 mg/kg) or an octapeptide of cholecystokinin (0.1 microgram/kg) have been found in rats that received daily injections of reserpine (0.5 mg/kg) for 7 days. During a 3-hr secretory period, significant reductions in the ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198109000-00015
更新日期:1981-09-01 00:00:00
abstract::BackgroundPost-hemorrhagic ventricular dilatation (PHVD) is predictive of mortality and morbidity among very-low-birth-weight preterm infants. Impaired cerebral blood flow (CBF) due to elevated intracranial pressure (ICP) is believed to be a contributing factor.MethodsA hyperspectral near-infrared spectroscopy (NIRS) ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.131
更新日期:2017-10-01 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::Functional disturbances in microcirculation in juvenile type 1 diabetes (T1D) are believed to underlie, in part, the later occurrence of cardiovascular complications. Some epidemiologic studies suggested greater risk of microvascular complications in those with T1D-risk genotypes of human leukocyte antigen (HLA). We i...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318165bfd4
更新日期:2008-04-01 00:00:00
abstract::Interrelationships of high-density lipoprotein cholesterol (C-HDL) with total plasma cholesterol (TC), triglyceride, and low-density lipoprotein cholesterol, as well as longitudinal maintenance of C-HDL rank order (tracking) from birth to age 2 years were assessed in 76 hypercholesterolemic neonates (cord blood, TC gr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198101000-00016
更新日期:1981-01-01 00:00:00
abstract::Many attempts have been made to obtain safe and effective analgesia in newborns. Oral glucose-water has been found to have analgesic properties in neonates. We investigated whether other sensory stimulation added to oral glucose provided more effective analgesia than oral glucose alone. In a randomized prospective dou...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-200204000-00010
更新日期:2002-04-01 00:00:00
abstract::Vascular dopamine (DA1) receptors may modulate circulatory hemodynamics in lambs. We evaluated resting dopaminergic tone in lambs by pharmacologically manipulating peripheral DA1 receptors with i.v. SCH 23390, (a highly selective, competitive DA1 receptor antagonist) and i.v. fenoldopam, (a highly selective DA1 recept...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199302000-00018
更新日期:1993-02-01 00:00:00
abstract::This report describes a third mucopolysaccharidosis in animals: canine mucopolysaccharidosis VII. The affected dog was the offspring of a father-daughter mating. Weakness in the rear legs was evident at 8 weeks of age and became progressively worse. He had a large head, a shortened maxilla, and corneal granularities. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198410000-00014
更新日期:1984-10-01 00:00:00
abstract:BACKGROUND:Oral propranolol, a nonselective β-blocker, is able to reduce the progression of retinopathy of prematurity in newborns, but it appeared unsafe. This study aimed to find, in rabbits, a propranolol eye drop concentration able to induce lower plasma but higher retinal concentrations than those obtained after o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.108
更新日期:2014-10-01 00:00:00
abstract::Hyperprostaglandin E syndrome (HPS), the prenatal variant of Bartter's syndrome, is characterized by a marked and selective stimulation of prostaglandin E (PGE2) synthesis. In the study group HPS patients showed increased urinary levels of PGE2, an index of renal, and of 11 alpha-hydroxy-9,15-dioxo-2,3,4,5,20-pentanor...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199708000-00019
更新日期:1997-08-01 00:00:00
abstract::Fetal and maternal plasma noradrenaline responses to invasive procedures were determined in pregnancies of 18 to 37 wk gestation. Fetal umbilical venous blood sampling was performed either from the placental cord insertion, which is not innervated, or the intrahepatic vein, which is innervated, and thus may be more st...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199904010-00007
更新日期:1999-04-01 00:00:00
abstract::The possible role played by albumin in regulating brain metabolism during development has been studied. The effects of fatty acid-free BSA on lactate, glucose, 3-hydroxybutyrate, and glutamine oxidation and lipogenesis by rat neurons and astrocytes from primary culture were studied. The rate of lactate oxidation and l...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199312000-00002
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Biliary atresia (BA) is an infantile disorder characterized by progressive sclerosing cholangiopathy leading to biliary obstruction. First-line treatment of BA is hepatoportoenterostomy, the prognosis of which is related to age at surgery and to histological variables such as extent of fibrosis and ductular ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.177
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVES:(1) Examine associations of a branched-chain amino acid (BCAA) metabolite pattern with metabolic risk across adolescence; (2) use Least Absolute Shrinkage and Selection Operator (LASSO) to identify novel metabolites of metabolic risk. METHODS:We used linear regression to examine associations of a BCAA score...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0195-5
更新日期:2019-02-01 00:00:00
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