Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.

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

Pediatrics

journal_title

Pediatrics

authors

Wiles JR,Leslie N,Knilans TK,Akinbi H

doi

10.1542/peds.2013-1105

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

e1781-6

issue

6

eissn

0031-4005

issn

1098-4275

pii

peds.2013-1105

journal_volume

133

pub_type

杂志文章,评审
  • Clinical-echocardiographic correlations in acute rheumatic fever.

    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:

    authors: Vardi P,Markiewicz W,Weiss Y,Levi J,Benderly A

    更新日期:1983-05-01 00:00:00

  • Long-term study of a quadrivalent human papillomavirus vaccine.

    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

    authors: Ferris D,Samakoses R,Block SL,Lazcano-Ponce E,Restrepo JA,Reisinger KS,Mehlsen J,Chatterjee A,Iversen OE,Sings HL,Shou Q,Sausser TA,Saah A

    更新日期:2014-09-01 00:00:00

  • Impact of very preterm birth on health care costs at five years of age.

    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

    authors: Korvenranta E,Lehtonen L,Rautava L,Häkkinen U,Andersson S,Gissler M,Hallman M,Leipälä J,Peltola M,Tammela O,Linna M,PERFECT Preterm Infant Study Group.

    更新日期:2010-05-01 00:00:00

  • Parents' Perspectives Regarding Age Restrictions for Tackling in Youth Football.

    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

    authors: Chrisman SPD,Whitlock KB,Kroshus E,Schwien C,Herring SA,Rivara FP

    更新日期:2019-05-01 00:00:00

  • Lactobacillus GG in the prevention of nosocomial gastrointestinal and respiratory tract infections.

    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

    authors: Hojsak I,Abdović S,Szajewska H,Milosević M,Krznarić Z,Kolacek S

    更新日期:2010-05-01 00:00:00

  • Munchausen's syndrome by proxy (child abuse) presenting as apparent autoerythrocyte sensitization syndrome: an unusual presentation of Polle syndrome.

    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:

    authors: Clark GD,Key JD,Rutherford P,Bithoney WG

    更新日期:1984-12-01 00:00:00

  • Safety, pharmacokinetics, and pharmacodynamics of drotrecogin alfa (activated) in children with severe sepsis.

    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

    authors: Barton P,Kalil AC,Nadel S,Goldstein B,Okhuysen-Cawley R,Brilli RJ,Takano JS,Martin LD,Quint P,Yeh TS,Dalton HJ,Gessouron MR,Brown KE,Betts H,Levin M,Macias WL,Small DS,Wyss VL,Bates BM,Utterback BG,Giroir BP

    更新日期:2004-01-01 00:00:00

  • Exploring emergency contraception knowledge, prescription practices, and barriers to prescription for adolescents in the emergency department.

    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

    authors: Goyal M,Zhao H,Mollen C

    更新日期:2009-03-01 00:00:00

  • Effects of waterbed flotation on premature infants: A pilot study.

    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:

    authors: Korner AF,Kraemer HC,Haffner ME,Cosper LM

    更新日期:1975-09-01 00:00:00

  • Preterm Birth and Poor Fetal Growth as Risk Factors of Attention-Deficit/ Hyperactivity Disorder.

    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

    authors: Sucksdorff M,Lehtonen L,Chudal R,Suominen A,Joelsson P,Gissler M,Sourander A

    更新日期:2015-09-01 00:00:00

  • Effects of acutely increasing systemic vascular resistance on oxygen tension in tetralogy of Fallot.

    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:

    authors: Nudel DB,Berman MA,Talner NS

    更新日期:1976-08-01 00:00:00

  • In situ hybridization detection of human herpesvirus 6 in brain tissue from fatal encephalitis.

    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

    authors: Ahtiluoto S,Mannonen L,Paetau A,Vaheri A,Koskiniemi M,Rautiainen P,Muttilainen M

    更新日期:2000-02-01 00:00:00

  • Computer-based documentation: effects on parent-provider communication during pediatric health maintenance encounters.

    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

    authors: Johnson KB,Serwint JR,Fagan LA,Thompson RE,Wilson ME,Roter D

    更新日期:2008-09-01 00:00:00

  • Use of telemedicine for children with special health care needs.

    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

    authors: Karp WB,Grigsby RK,McSwiggan-Hardin M,Pursley-Crotteau S,Adams LN,Bell W,Stachura ME,Kanto WP

    更新日期:2000-04-01 00:00:00

  • Effect of storage processes on the bacterial growth-inhibiting activity of human breast milk.

    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:

    authors: Hernandez J,Lemons P,Lemons J,Todd J

    更新日期:1979-04-01 00:00:00

  • Cerebral oxygenation in preterm infants.

    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

    authors: Fyfe KL,Yiallourou SR,Wong FY,Odoi A,Walker AM,Horne RS

    更新日期:2014-09-01 00:00:00

  • Child abuse or osteogenesis imperfecta: how can we tell?

    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:

    authors: Gahagan S,Rimsza ME

    更新日期:1991-11-01 00:00:00

  • Evaluation of a clinical dehydration scale in children requiring intravenous rehydration.

    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

    authors: Kinlin LM,Freedman SB

    更新日期:2012-05-01 00:00:00

  • Effect of botulinum toxin in the treatment of drooling: a controlled clinical trial.

    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

    authors: Jongerius PH,van den Hoogen FJ,van Limbeek J,Gabreëls FJ,van Hulst K,Rotteveel JJ

    更新日期:2004-09-01 00:00:00

  • Milk intolerance in children with persistent sleeplessness: a prospective double-blind crossover evaluation.

    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:

    authors: Kahn A,Mozin MJ,Rebuffat E,Sottiaux M,Muller MF

    更新日期:1989-10-01 00:00:00

  • Mental health screening in pediatric practice: factors related to positive screens and the contribution of parental/personal concern.

    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

    authors: Hacker KA,Myagmarjav E,Harris V,Suglia SF,Weidner D,Link D

    更新日期:2006-11-01 00:00:00

  • Accuracy of administrative billing codes to detect urinary tract infection hospitalizations.

    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

    authors: Tieder JS,Hall M,Auger KA,Hain PD,Jerardi KE,Myers AL,Rahman SS,Williams DJ,Shah SS

    更新日期:2011-08-01 00:00:00

  • Alternative vaccination schedule preferences among parents of young children.

    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

    authors: Dempsey AF,Schaffer S,Singer D,Butchart A,Davis M,Freed GL

    更新日期:2011-11-01 00:00:00

  • Factors that influence receipt of recommended preventive pediatric health and dental care.

    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

    authors: Yu SM,Bellamy HA,Kogan MD,Dunbar JL,Schwalberg RH,Schuster MA

    更新日期:2002-12-01 00:00:00

  • Informed Consent in Decision-Making in Pediatric Practice.

    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

    authors: Katz AL,Webb SA,COMMITTEE ON BIOETHICS.

    更新日期:2016-08-01 00:00:00

  • QTc interval prolongation and severe apneas associated with a change in infant positioning.

    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

    authors: Ellsworth MA,Ulrich TJ,Carey WA,Colby CE,Ackerman MJ

    更新日期:2013-12-01 00:00:00

  • Association of center volume with mortality and complications in pediatric heart surgery.

    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

    authors: Pasquali SK,Li JS,Burstein DS,Sheng S,O'Brien SM,Jacobs ML,Jaquiss RD,Peterson ED,Gaynor JW,Jacobs JP

    更新日期:2012-02-01 00:00:00

  • Otitis media-related antibiotic prescribing patterns, outcomes, and expenditures in a pediatric medicaid population.

    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

    authors: Berman S,Byrns PJ,Bondy J,Smith PJ,Lezotte D

    更新日期:1997-10-01 00:00:00

  • A longitudinal study of developmental outcome of infants with bronchopulmonary dysplasia and very low birth weight.

    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

    authors: Singer L,Yamashita T,Lilien L,Collin M,Baley J

    更新日期:1997-12-01 00:00:00

  • Health of children born as a result of in vitro fertilization.

    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

    authors: Klemetti R,Sevón T,Gissler M,Hemminki E

    更新日期:2006-11-01 00:00:00