Abstract:
:Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal premature atrial contractions and premature ventricular contractions. Prolongation of the QTc interval resolved after correction of metabolic derangements. The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. This is the first report of acquired prolonged QTc in a neonate with MCAD deficiency, and it suggests that MCAD deficiency should be considered in the differential diagnoses of acute neonatal illnesses associated with electrocardiographic abnormality. We review the clinical presentation and diagnosis of MCAD deficiency in neonates.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Wiles JR,Leslie N,Knilans TK,Akinbi Hdoi
10.1542/peds.2013-1105subject
Has Abstractpub_date
2014-06-01 00:00:00pages
e1781-6issue
6eissn
0031-4005issn
1098-4275pii
peds.2013-1105journal_volume
133pub_type
杂志文章,评审相关文献
PEDIATRICS文献大全abstract::Thirty-three children with acute rheumatic fever were studied using echocardiography to characterize heart involvement in this disease. Among 26 subjects with a first episode of acute rheumatic fever, 18 had a clinical diagnosis of carditis and six had heart failure. Heart failure usually resulted from valvular incomp...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1983-05-01 00:00:00
abstract:BACKGROUND:We present a long-term safety, immunogenicity, and effectiveness study of a quadrivalent human papillomavirus (HPV4) vaccine. METHODS:Sexually naive boys and girls aged 9 to 15 years (N = 1781) were assigned (2:1) to receive HPV4 vaccine or saline placebo at day 1 and months 2 and 6. At month 30, the placeb...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1542/peds.2013-4144
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:We assessed the effects of very preterm birth (gestational age <32 weeks or birth weight <1501 g) and prematurity-related morbidities on health care costs during the fifth year of life. METHODS:The study population consisted of 588 very preterm children and 176 term control subjects born in 2001-2002. Costs ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2009-2882
更新日期:2010-05-01 00:00:00
abstract:BACKGROUND:In ice hockey and soccer, age restrictions exist for body checking and heading because of injury risk. There are currently no age restrictions for tackling in youth football. METHODS:We surveyed a nationally representative sample of US parents regarding their support for age restrictions on tackling in foot...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2018-2402
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVE:The incidence of nosocomial infections, predominantly gastrointestinal and respiratory, in children in developed countries is high, ranging from 5% to 44%. There is no effective strategy for preventing these infections. The objective of our study was to investigate the role of Lactobacillus GG (LGG) in preven...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2009-2568
更新日期:2010-05-01 00:00:00
abstract::Munchausen's syndrome was initially described in 1951. It has become increasingly recognized since that time. Recently, Munchausen's syndrome by proxy or Polle syndrome has been described. In this disease entity, a parent causes a factitious disease in a child. The disease may require extensive medical testing and the...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1984-12-01 00:00:00
abstract:OBJECTIVE:In a phase 3 trial, recombinant human activated protein C (drotrecogin alfa [activated]) significantly reduced mortality in adult patients with severe sepsis. We have now performed a preliminary analysis of the safety, pharmacokinetics, and pharmacodynamics of drotrecogin alfa (activated) in pediatric patient...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1542/peds.113.1.7
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to assess the proportion of emergency medicine physicians who had prescribed emergency contraception pills to adolescents, to identify potential barriers to emergency contraception pill prescription for adolescents, and to assess physician knowledge of emergency contraception p...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2008-0193
更新日期:2009-03-01 00:00:00
abstract::Two types of waterbeds were developed to impart compensatory vestibular-proprioceptive stimulation to premature infants. Twenty-one infants ranging in gestational age from 27 to 34 weeks and birthweights from 1,050 to 1,920 gm were included in this pilot study. Assignment to experimental and control groups was made by...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1975-09-01 00:00:00
abstract:BACKGROUND:Previous studies have shown an association between prematurity and attention- abstract deficit/hyperactivity disorder (ADHD). Results concerning late preterm infants are controversial, and studies examining fetal growth represented by weight for gestational age are scarce. Our objective was to examine the as...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2015-1043
更新日期:2015-09-01 00:00:00
abstract::Effects of phenylephrine hydrochloride on the degree of hypoxia were studied in six cyanotic patients with tetralogy of Fallot. Baseline aortic and right atrial oxygen saturations, blood gas tensions, pH, and indicator-dilution curves were obtained under stable conditions. Phenylephrine was infused while systemic arte...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1976-08-01 00:00:00
abstract::A 23-month-old girl died after 2 days' illness with rash, fever, and convulsions. Neuropathologic findings were consistent with viral hemorrhagic encephalitis in pontine tegmentum and medial thalamic areas. Human herpesvirus 6 (HHV-6) DNA was detected in pontine nuclei by in situ hybridization. In addition, polymerase...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.105.2.431
更新日期:2000-02-01 00:00:00
abstract:OBJECTIVE:The goal was to investigate the impact of a computer-based documentation tool on parent-health care provider communication during a pediatric health maintenance encounter. METHODS:We used a quasiexperimental study design to compare communication dynamics between clinicians and parents/children in health main...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2007-3005
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:In 1995, the Children's Medical Services (CMS) of the State of Georgia contracted with the Department of Pediatrics of the Medical College of Georgia (MCG) and the MCG Telemedicine Center to develop telemedicine programs to provide subspecialty care for children with special health care needs. This article pr...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.105.4.843
更新日期:2000-04-01 00:00:00
abstract::Human breast milk samples were collected from lactating mothers, and aliquots were maintained at room temperature, frozen, and pasteurized. Samples were inoculated with 10 to 50 colony-forming units per milliliter (cfu/ml) of Escherichia coli or group B streptococcus, and incubated at 37 C. Quantitative growth was mea...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1979-04-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Prone sleeping is a major risk factor for sudden infant death syndrome (SIDS) and preterm infants are at significantly increased risk. In term infants, prone sleeping is associated with reduced mean arterial pressure (MAP) and cerebral tissue oxygenation index (TOI). However, little is known ab...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2014-0773
更新日期:2014-09-01 00:00:00
abstract::Osteogenesis imperfecta may be difficult to differentiate from nonaccidental trauma. Social history may prejudice the physician in favor of or against considering the diagnosis of child abuse. Three cases of osteogenesis imperfecta that were initially diagnosed as nonaccidental trauma are presented. The availability o...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1991-11-01 00:00:00
abstract:OBJECTIVES:To evaluate the reliability and validity of a previously derived clinical dehydration scale (CDS) in a cohort of children with gastroenteritis and evidence of dehydration. METHODS:Participants were 226 children older than 3 months who presented to a tertiary care emergency department and required intravenou...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2011-2985
更新日期:2012-05-01 00:00:00
abstract:OBJECTIVE:To investigate the clinical effectiveness of botulinum neurotoxin type A (BoNT) to reduce drooling in children with cerebral palsy (CP). METHODS:A controlled clinical trial was performed in which the results of single-dose BoNT injections in the submandibular glands were compared with treatment with scopolam...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章
doi:10.1542/peds.2003-1104-L
更新日期:2004-09-01 00:00:00
abstract::From July 1986 to July 1988, 146 children less than 5 years of age were referred by their physicians to our university sleep clinic for continual waking and crying during sleep hours. For 85 children (58.2%), the sleeplessness was attributed to inappropriate sleep habits. For 17 children (11.6%), no explanation was fo...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1989-10-01 00:00:00
abstract:OBJECTIVES:The goals were to examine factors related to positive Pediatric Symptom Checklist scores in an urban practice and to examine the relative contribution of parental/personal concern about emotional and behavioral problems to mental health problem identification. METHODS:Annual screening using the Pediatric Sy...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2006-0026
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:Hospital billing data are frequently used for quality measures and research, but the accuracy of the use of discharge codes to identify urinary tract infections (UTIs) is unknown. OBJECTIVE:To determine the accuracy of International Classification of Diseases, 9th revision (ICD-9) discharge codes to identif...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1542/peds.2010-2064
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVE:Increasing numbers of parents use alternative vaccination schedules that differ from the recommended childhood vaccination schedule for their children. We sought to describe national patterns of alternative vaccination schedule use and the potential "malleability" of parents' current vaccination schedule choi...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2011-0400
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVE:This study examined the factors that affect children's receipt of recommended well-child and dental visits using nationally representative data. METHODS:We analyzed the Child Public Use File of the 1999 National Survey of America's Families, including 35 938 children who were younger than 18 years. Bivariate...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.110.6.e73
更新日期:2002-12-01 00:00:00
abstract::Informed consent should be seen as an essential part of health care practice; parental permission and childhood assent is an active process that engages patients, both adults and children, in their health care. Pediatric practice is unique in that developmental maturation allows, over time, for increasing inclusion of...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2016-1485
更新日期:2016-08-01 00:00:00
abstract::For more than a decade there has been considerable interest in the role of QT interval prolongation in the pathogenesis of sudden infant death syndrome. It has been proposed that the QT interval is a surrogate marker for autonomic instability and can be used to identify infants at risk for significant morbidity and mo...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2012-4005
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:Previous analyses have suggested center volume is associated with outcome in children undergoing heart surgery. However, data are limited regarding potential mediating factors, including the relationship of center volume with postoperative complications and mortality in those who suffer a complication. We exa...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1542/peds.2011-1188
更新日期:2012-02-01 00:00:00
abstract:BACKGROUND:Treatment of otitis media is the most frequent reason for administering antibiotics to children in the United States. However, only limited data are available on medical effectiveness of antibiotic prescribing patterns for otitis media and their associated expenditures or the factors that influence antibioti...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.100.4.585
更新日期:1997-10-01 00:00:00
abstract:OBJECTIVE:Bronchopulmonary dysplasia (BPD) is now the leading cause of lung disease in US infants. In a large regional cohort, we tested the hypothesis that despite innovations in neonatal care, very low birth weight (VLBW) infants (<1500 g) with BPD had poorer developmental outcomes than nonaffected infants during the...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.100.6.987
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to use nationwide registries to examine the health of children up to 4 years of age who were born as a result of in vitro fertilization. METHODS:Children born after in vitro fertilization (N = 4559) from 1996 to 1999 were monitored until 2003. Two control groups were selected fr...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2006-0735
更新日期:2006-11-01 00:00:00