Abstract:
:This patient presented on the first day of life with pronounced lactic acidosis with an elevated lactate/pyruvate ratio. Urine organic acids showed Krebs cycle metabolites and mildly elevated methylmalonate and methylcitrate. The acylcarnitine profile showed elevated propionylcarnitine and succinylcarnitine. Amino acids showed elevated glutamic acid, glutamine, proline, and alanine. From the age 2 of mo on, she had elevated transaminases and intermittent episodes of liver failure. Liver biopsy showed steatosis and a decrease of mitochondrial DNA to 50% of control. She had bilateral sensorineural hearing loss. Over the course of the first 2 y of life, she developed a progressively severe myopathy with pronounced muscle weakness eventually leading to respiratory failure, Leigh disease, and recurrent hepatic failure. The hepatic symptoms and the metabolic parameters temporarily improved on treatment with aspartate, but neither muscle symptoms nor brain lesions improved. Laboratory testing revealed a deficiency of succinyl-CoA ligase enzyme activity and protein in fibroblasts because of a novel homozygous mutation in the SUCLG1 gene: c.40A>T (p.M14L). Functional analysis suggests that this methionine is more likely to function as the translation initiator methionine, explaining the pathogenic nature of the mutation. Succinyl-CoA ligase deficiency due to an SUCLG1 mutation is a new cause for mitochondrial hepatoencephalomyopathy.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Van Hove JL,Saenz MS,Thomas JA,Gallagher RC,Lovell MA,Fenton LZ,Shanske S,Myers SM,Wanders RJ,Ruiter J,Turkenburg M,Waterham HRdoi
10.1203/PDR.0b013e3181e5c3a4subject
Has Abstractpub_date
2010-08-01 00:00:00pages
159-64issue
2eissn
0031-3998issn
1530-0447journal_volume
68pub_type
杂志文章abstract:BACKGROUND:Regular physical activity provides children with health and developmental benefits. This study investigated if active play and walking with the family dog was associated with better social-emotional development in young children. METHODS:We surveyed 1646 parents to ascertain if families with pre-schoolers o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-1007-2
更新日期:2020-07-06 00:00:00
abstract::We studied the mechanisms by which C16:0 lysophosphatidylcholine (LPC) and albumin inhibit the surface activity of calf lung surfactant extract (CLSE) by using a pulsating bubble apparatus with a specialized hypophase exchange system, plus adsorption and Wilhelmy balance measurements. In the absence of inhibitors, CLS...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199907000-00015
更新日期:1999-07-01 00:00:00
abstract::We measured the changes in tidal volume, duration of the various phases of the respiratory cycle, and peak nasal pressure during elastic and resistive loading in preterm infants. Values were calculated during the first loaded breath, when chemical drive was unchanged. Tidal volume decreased by equivalent percentages w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197704000-00002
更新日期:1977-04-01 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::Few data exist regarding resuscitation of hypovolemic shock in infants, and alternative strategies such as vasopressor therapy merit further evaluation. However, the effects of norepinephrine on cerebral perfusion and oxygenation during hemorrhagic shock in the pediatric population are still unclear. Eight anesthetize...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181425858
更新日期:2007-10-01 00:00:00
abstract:BACKGROUND:After birth, breastfeeding is the exclusive source of hormonal signaling between mother and infant. Hospitalized infants often receive donor milk when their own mother's milk is unavailable. METHODS:The presence of insulin, leptin, cortisol, progesterone, and testosterone was examined in samples from milk b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0789-6
更新日期:2020-10-01 00:00:00
abstract::We investigated, using a human placental choriocarcinoma cell line as a model, the effects of the immunosuppressive drug cyclosporin A on several placental transport systems mediating the transfer of glucose and amino acids from mother to fetus. The results of the investigation show that the transport system responsib...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199207000-00024
更新日期:1992-07-01 00:00:00
abstract::Necrotizing enterocolitis (NEC) is a devastating intestinal disease of premature infants. Maternal milk has been suggested to be partially protective against NEC; however, the mechanisms of this protection are not defined. The aim of this study was to examine the effect(s) of artificial feeding of rat milk (RM)-versus...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000050657.56817.E0
更新日期:2003-03-01 00:00:00
abstract::BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.106
更新日期:2017-07-01 00:00:00
abstract::The metabolic demands of the newborn heart are met primarily by glucose and lactate. Mitochondria are impermeable to the NADH produced by these cytosolic reactions. The malate/aspartate and alpha-glycerophosphate (alpha-GP) shuttles provide two pathways to transport reducing equivalents into mitochondria. The goals of...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199508000-00015
更新日期:1995-08-01 00:00:00
abstract::Placental steroid sulfatase deficiency is a genetic disorder only recently reported in the medical literature. Most documented cases of placental sulfatase deficiency have been marked by delay in onset of labor, lack of cervical dilatation, and relative refractoriness of oxytocic agents and amniotomy. We have studied ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197708000-00008
更新日期:1977-08-01 00:00:00
abstract:BACKGROUND:Continuous and intermittent bolus orogastric feedings are strategies used in infants unable to tolerate normal feeds. METHODS:To determine the effects of feeding modality on protein synthesis in different tissues, neonatal pigs received a balanced formula by orogastric tube as an intermittent bolus feed eve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.89
更新日期:2013-08-01 00:00:00
abstract::To determine the effects of age, feeding regimen, and antenatal glucocorticoids on intestinal permeability, preterm infants (n = 132) were stratified by gestational age and by diet (mothers' own milk versus preterm formula), and assigned randomly to one of four feeding regimens: early-continuous, early-bolus, standard...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199810000-00009
更新日期:1998-10-01 00:00:00
abstract::Based on the serum phenylalanine levels under free diet patients with hyperphenylalaninemia are classified as "classical" (>1200 micromol/L), "mild" (600-1200 micromol/L), or "non-phenylketonuria (PKU)-hyperphenylalaninemia" (<600 micromol/L). Recent studies revealed intellectual, neurologic, and neuropsychologic defi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199709000-00020
更新日期:1997-09-01 00:00:00
abstract::We studied the effects of exogenously administered adrenomedullin on fetal pulmonary arterial blood flow in near-term fetal sheep. The hemodynamic effects of a single injection of adrenomedullin into the left pulmonary artery were compared with those of acetylcholine; the effects of repeated injections of adrenomedull...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199704000-00007
更新日期:1997-04-01 00:00:00
abstract::Altered transfer of nutrients from mother to conceptus may be involved in the pathogenesis of the developmental disturbances in offspring of diabetic mothers. In our study, the embryonic uptake of a saturated (palmitic acid) and a nonsaturated (arachidonic acid) fatty acid was evaluated in a normal and a diabetes-like...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199108000-00005
更新日期:1991-08-01 00:00:00
abstract::Topical emollient therapy may reduce the incidence of serious infections and mortality of preterm infants in developing countries. We tested whether emollient therapy reduced the burden of pathogens on skin and/or prevented bacterial translocation. Neonates <33 wk gestational age were randomized to treatment with sunf...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/pdr.0b013e3180459f75
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:To examine differences in comorbidities and surgical management based on socioeconomics in hospitalized children with Crohn's disease (CD). METHODS:Using the Kids' Inpatient Database for 2006-2012, we identified patients (<21 years) with a CD diagnosis. Cases were analyzed and stratified by median parental ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0830-9
更新日期:2020-12-01 00:00:00
abstract::Intracellular levels of cysteine (CSH) and reduced glutathione (GSH) in the kidney and liver of rats from the newborn to the adult period have been determined using a sensitive high performance liquid chromatography method. In the kidney, the intracellular level of free CSH increased 4-fold from 1 to 4 nmol/mg protein...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198711000-00025
更新日期:1987-11-01 00:00:00
abstract::Blood mononuclear cells from newborns and from adults, immune or nonimmune to herpes simplex virus, were cultured with IL 2 and herpes simplex virus and the amount of gamma-interferon in the supernatant measured after 3 days. The newborn and nonimmune adult cells made equivalent trace amounts of gamma-interferon in cu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198605000-00004
更新日期:1986-05-01 00:00:00
abstract::The purpose of the study was to investigate the effect of low doses of dopamine in children. Fourteen cases were studied after open heart surgery. Cardiac output and renal parameters were determined under baseline conditions and under continuous infusion of dopamine 2.5 and 5 micrograms/kg/min. During the control peri...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198909000-00009
更新日期:1989-09-01 00:00:00
abstract::Previous studies have demonstrated that myocardial function changes during mammalian perinatal development. The purpose of this study was to evaluate the subcellular basis underlying the slower relaxation in the developing heart by examining perinatal changes in sarcoplasmic reticulum (SR) function, and in SR Ca2+ pum...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199205000-00012
更新日期:1992-05-01 00:00:00
abstract::Sodium deficiency is associated with decreased muscle growth and protein synthesis. We investigated the influence of diet-induced sodium deficiency on the rate and extent of compensatory growth of the right lung after left pneumonectomy in young rats of 83 +/- 1 g body weight. Starting 1 wk before surgery, all rats we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199011000-00007
更新日期:1990-11-01 00:00:00
abstract:BACKGROUND:Therapeutic hypothermia (TH) has become standard treatment for severe and moderate hypoxic-ischemic neonatal encephalopathy (HIE). Our group has developed an optically based, noninvasive concept of assessing the capacity for oxygen delivery from the microcirculation to the cells of a tissue under investigati...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.16
更新日期:2016-06-01 00:00:00
abstract::Neonatal hypoxic-ischemic encephalopathy (HIE) is a clinically defined neurological condition after lack of oxygen and often associated with cardiac dysfunction in term infants. Therapeutic hypothermia (HT) after birth is neuroprotective in infants with HIE. However, it is not known whether HT is also cardioprotective...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31822941ee
更新日期:2011-10-01 00:00:00
abstract::This review article examines the National Institutes of Health's (NIH) overall budget and its pediatric research funding across three time periods: predoubling [fiscal year (FY) 1992-1997]; doubling (FY 1998-2003); and postdoubling (FY 2004-2009). The average annual NIH appropriations increased by 5.4%, 13.4%, and 1.3...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31818912fd
更新日期:2008-11-01 00:00:00
abstract::The influence of maternal stress during pregnancy on the postpartum iron status and immune maturation of infants was investigated in a nonhuman primate model. Forty infant rhesus monkeys were generated from two types of disturbed pregnancies, early or late gestation stress, and compared with 24 undisturbed controls. P...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318045be53
更新日期:2007-05-01 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::Nitric Oxide (NO) can be cytotoxic or cytoprotective depending on amount and location of its generation. eNOS is important in modulating blood flow and is allosterically regulated. Inducible NOS (iNOS) tends to produce large quantities of NO leading to cell injury. We studied the role and regulation of NOS in carbon t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31816d9146
更新日期:2008-06-01 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