Abstract:
:A number of neuromuscular diseases are associated with molecular defects in the mitochondrial DNA (mtDNA). These include: 1) a missense mutation at nucleotide 11778 in the mtDNA of Leber's hereditary optic neuropathy patients; 2) a heterogeneous array of deletions in the mtDNA of ocular myopathy patients; and 3) small deletions and point mutations in the mtDNA of myoclonic epilepsy and ragged red fiber disease patients. We can now diagnose these diseases at the molecular level from small patient samples by amplifying the affected mtDNA regions using the polymerase chain reaction. Leber's hereditary optic neuropathy is diagnosed through loss of an SfaNI restriction site. Ocular myopathy deletions are identified by differential amplification across deletion breakpoints. Familial diseases such as myoclonic epilepsy and ragged red fiber disease might be diagnosed by identifying small deletions through amplification and electrophoretic analysis of the entire mtDNA genome or by identifying point mutations through differential oligonucleotide hybridization. As additional mtDNA molecular defects are identified, molecular analysis will likely become a primary tool for the diagnosis of these diseases.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Wallace DC,Lott MT,Lezza AM,Seibel P,Voljavec AS,Shoffner JMdoi
10.1203/00006450-199011000-00023subject
Has Abstractpub_date
1990-11-01 00:00:00pages
525-8issue
5eissn
0031-3998issn
1530-0447journal_volume
28pub_type
杂志文章abstract::The ability of synthetic metalloporphyrins to suppress heme oxygenase activity and bilirubin formation has recently become of considerable clinical and experimental interest for suppression of jaundice in humans, including neonatal hyperbilirubinemia. The present investigation compares the biochemical effects of Sn- a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199209000-00016
更新日期:1992-09-01 00:00:00
abstract::Prenatal maternal therapy with glucocorticoid reduces the incidence of respiratory distress syndrome (RDS) in premature infants. To investigate the effects of this treatment on the fetal endocrine system, we determined serum concentrations of betamethasone, cortisol, dehydroepiandrosterone sulfate, growth hormone, and...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198002000-00011
更新日期:1980-02-01 00:00:00
abstract::Early nutrition in animals affects both behavior and brain structure. In humans, randomized trials show that early nutrition affects later cognition, notably in males. We hypothesized that early nutrition also influences brain structure, measurable using magnetic resonance imaging. Prior research suggested that the ca...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318163a271
更新日期:2008-03-01 00:00:00
abstract::Increased fetal lung expansion profoundly inhibits surfactant protein gene expression and stimulates cellular proliferation in the fetal lung. Our aim was to determine whether increased expansion of the lung after birth, by the application of a continuous positive airway pressure (CPAP) for 12 h, inhibits surfactant p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200112000-00015
更新日期:2001-12-01 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:BACKGROUND:In infants admitted to an ICU with respiratory failure, there is an association between the ratio of CD8+ to CD4+ T cells within the upper respiratory tract and disease severity. Whether this ratio is associated with respiratory disease severity within children presenting to a pediatric emergency department ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-021-01364-2
更新日期:2021-01-27 00:00:00
abstract::Insulin treatment of prepubertal children with insulin-dependent diabetes improves body protein balance by decreasing the rate of protein degradation without stimulating protein synthesis. However, insulin also causes hypoaminoacidemia, so the inability of insulin to stimulate protein synthesis may have been limited b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000169976.20029.64
更新日期:2005-08-01 00:00:00
abstract::The use of auditory brainstem response (ABR) for assessment of hearing in the neonate has not been without challenge. Although numerous articles have appeared, agreement regarding the utility of neonatal ABR testing does not exist. In review of the current studies and commentaries, a clear majority are favorable to ne...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198408000-00024
更新日期:1984-08-01 00:00:00
abstract::An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a rapidly deteriorating cl...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198603000-00016
更新日期:1986-03-01 00:00:00
abstract::Bronchopulmonary dysplasia (BPD) is a common pulmonary complication in preterm infants that leads to fibrosis of the bronchoalveolar walls and often to severe clinical consequences. Type III collagen is deposited early in progressive fibrosis. Because the N-terminal propeptide of type III collagen (PIIINP), a by-produ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199204000-00007
更新日期:1992-04-01 00:00:00
abstract::There is increasing evidence that cortisol contributes to cardiovascular risk. It is unclear whether physiological concentrations of serum cortisol are related to vascular risk markers in children. The cross-sectional associations between morning serum cortisol and cardiovascular risk markers: blood pressure (BP) and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181efc310
更新日期:2010-11-01 00:00:00
abstract::Alpha-mannosidosis is a lysosomal storage disorder resulting from deficient activity of lysosomal alpha-mannosidase. It has been described previously in humans, cattle, and cats, and is characterized in all of these species principally by neuronal storage leading to progressive mental deterioration. Two guinea pigs wi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199911000-00003
更新日期:1999-11-01 00:00:00
abstract::Studies have shown that human neonates who develop group B streptococcal sepsis usually lack opsonic antibody (Ab) to their infecting strain and that these neonates may also have impaired polymorphonuclear leukocyte (PMN) function. The present study was designed to determine the efficacy of administration of PMNs or o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198012000-00031
更新日期:1980-12-01 00:00:00
abstract::Children with cystic fibrosis excreted elevated urinary levels of all three polyamines--putrescine, spermidine, and spermine. Heterozygote parents excreted intermediate concentrations of the polyamines, but not levels significantly different from levels in normal controls. Patients with cystic fibrosis who were admini...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197910000-00011
更新日期:1979-10-01 00:00:00
abstract::The interactions between CD40 and CD40L (CD154) are critical for effective humoral immune response. CD40 signaling facilitates T lymphocyte dependent B cell proliferation and immunoglobulin isotype switch. The objective of our study was to investigate the CD40 and CD40L expression on peripheral blood mononuclear cells...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000219298.96471.18
更新日期:2006-06-01 00:00:00
abstract::Carlo Agostoni, MD, and Kwang Sik Kim, MD, are the Guest Editors for this annual review issue on Nutrition and the Microbiome. Dr Agostoni is a Professor of Pediatrics at the Department of Clinical Sciences and Community Health, University of Milan, within the Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, ...
journal_title:Pediatric research
pub_type: 历史文章
doi:10.1038/pr.2014.195
更新日期:2015-01-01 00:00:00
abstract::Apoptosis of CD4+ and CD8+ T cells has been shown in peripheral blood mononuclear cells (PBMCs) from HIV-infected adults analyzed after overnight culture. Because cell death may be an artifact of in vitro culture, and because there is little information on apoptosis in pediatric HIV disease, we undertook a cross-secti...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199711000-00018
更新日期:1997-11-01 00:00:00
abstract::We analyzed by means of immunoblot technique the patterns of antibodies binding to polypeptides of Borrelia burgdorferi B31 in the sera of 21 children with different stages of Lyme disease. All sera but one recognized the flagellar protein 41 kD and all but two the 83-kD protein. The number of proteins recognized rose...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198910000-00019
更新日期:1989-10-01 00:00:00
abstract::The purpose of this investigation was to determine whether maximal oxygen consumption (VO2max) differed between clinically obese black and white children and if a difference existed to determine whether it was related to hematological profiles and/or physical activity/inactivity levels. Twenty-three black and 21 white...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000176909.66057.a3
更新日期:2005-09-01 00:00:00
abstract::The nutritional status, prenatally and early postnatally, plays a critical role in postnatal growth and development. Early malnutrition may change the original programming of organs, especially those in developmental phases, which can result in long-term changes in metabolism. The association between a low birth weigh...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200012000-00017
更新日期:2000-12-01 00:00:00
abstract::Allergies are increasing, and despite deeper insights into the immunologic basis of these diseases, preventive measures are not yet efficient. As the induction of allergic diseases is often triggered in early childhood, perinatal or prenatal preventive strategies would be beneficial. We investigated the transfer of in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200009000-00024
更新日期:2000-09-01 00:00:00
abstract::We banded the trachea of 4-wk-old male rats and studied lung growth, lung morphometry, and static pulmonary mechanics 4 wk later. We compared the experimental animals to sham-operated male littermates of the same age, 8-wk-old normal male littermates, and weight-matched rats of a younger age. Tracheal banded animals w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198103000-00014
更新日期:1981-03-01 00:00:00
abstract::In the fetal rat, nitrofen induces congenital diaphragmatic hernia (CDH) and pulmonary vascular remodeling similar to what is observed in the human condition. Airway hyperactivity is common in infants with CDH and attributed to the ventilator-induced airway damage. The purpose of this study was to test the hypothesis ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000057986.74037.7B
更新日期:2003-05-01 00:00:00
abstract::Twenty-four samples of breast milk from nine mothers of infants suffering from breast milk jaundice were studied. Eight samples of milk from mothers of nonjaundiced infants, along with five formula milks enriched with polyunsaturated fatty acids, served as controls. Milks from mothers with jaundiced infants had no inh...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197606000-00007
更新日期:1976-06-01 00:00:00
abstract::Magnesium-deficient fetuses exhibited malformations (44%), anemia, and edema. Maternal plasma magnesium levels at day 21 of pregnancy reflected the level of dietary magnesium (2.43 +/- 0.09 mg Mg/100 ml, control; 0.74 +/- 0.02 mg Mg/100 ml, deficient). Plasma magnesium levels of deficient fetuses showed similar decrea...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197706000-00013
更新日期:1977-06-01 00:00:00
abstract::Matrix metalloproteinases (MMP) are likely effectors of normal lung development, especially branching morphogenesis, angiogenesis, and extracellular matrix degradation. Because hyperoxia exposure (>95% O(2)) from d 4 to 14 in newborn rat pups leads to arrest of alveolarization and mimics newborn chronic lung disease, ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000130658.45564.1F
更新日期:2004-07-01 00:00:00
abstract:BACKGROUND:Though prenatal antidepressant exposure has been associated with adverse developmental outcomes, the extent to which the effects are due to prenatal drug exposure or underlying maternal mood disturbances is unclear. METHODS:This was a population-based retrospective cohort study using administrative data fro...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01269-6
更新日期:2020-12-09 00:00:00
abstract::The effects of early protein-deficiency on lung development were studied in the rat. Newborn male rats were nursed in groups of eight. Control dams and pups received a 15% protein diet during the whole experiment. Test mothers only received 12 and 8% proteins from the 7th and the 14th day of lactation. Test rats fed a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198707000-00012
更新日期:1987-07-01 00:00:00
abstract::Spleens from 1-20-wk-old guinea pigs infected in utero with Treponema pallidum and age-matched controls, born to normal and heat-killed (56 degrees C, 2 h.) T. pallidum-injected mothers, were examined for their in vitro lymphoproliferative response to phytohemagglutinin, concanavalin A, and lipopolysaccharide. Additio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199712000-00013
更新日期:1997-12-01 00:00:00
abstract::Zidovudine (azidothymidine, AZT) is used in pregnancy to reduce mother to infant transmission of HIV. Understanding the disposition of AZT in the fetus is necessary to optimize therapeutic regimens directed toward the fetus. Recent studies in primates found similar steady-state levels of the glucuronide metabolite of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199807000-00008
更新日期:1998-07-01 00:00:00