Acute profound dystonia in infants with glutaric acidemia.

Abstract:

:Acute profound dystonia developed in three previously well infants who were found to have glutaryl-CoA dehydrogenase deficiency in cultured skin fibroblasts. Two patients had excessive urinary excretion of glutaric acid, but one did not. Neuroradiologic studies performed in all three patients at the onset of their illnesses revealed large CSF-containing spaces both within the sylvian fissures and anterior to the temporal lobes. Pathologic examination of the brain of one patient demonstrated cerebral and cerebellar atrophy, shrinkage of the putamen, and white matter vacuolation. Glutaric acidemia may be a common cause of acquired persistent dystonia or choreoathetosis in infancy.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Bergman I,Finegold D,Gartner JC Jr,Zitelli BJ,Claassen D,Scarano J,Roe CR,Stanley C,Goodman SI

subject

Has Abstract

pub_date

1989-02-01 00:00:00

pages

228-34

issue

2

eissn

0031-4005

issn

1098-4275

journal_volume

83

pub_type

杂志文章,评审
  • Fluoride ingestion in children: a review of 87 cases.

    abstract::All cases of fluoride ingestion in children younger than 12 years old reported to the Rocky Mountain Poison Center between January 1 and December 31, 1986, were retrospectively reviewed. Eighty-seven cases were identified. Eighty-four cases involved accidental ingestion of dental fluoride products in the home (tablets...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Augenstein WL,Spoerke DG,Kulig KW,Hall AH,Hall PK,Riggs BS,el Saadi M,Rumack BH

    更新日期:1991-11-01 00:00:00

  • Effectiveness of a regional poison center in reducing excess emergency room visits for children's poisonings.

    abstract::A study was done to assess the necessity of hospital care for poisoning episodes in children less than 5 years old and to evaluate the impact of a regional poison center on the use of emergency rooms for pediatric poisonings. Of the pediatric patients seen in emergency rooms for acute poisonings, 63% did not require t...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Chafee-Bahamon C,Lovejoy FH Jr

    更新日期:1983-08-01 00:00:00

  • Acquired immunodeficiency syndrome transmission: changes in knowledge and behaviors among teenagers, Massachusetts statewide surveys, 1986 to 1988.

    abstract::Despite substantial progress, adolescents remain at high risk for human immunodeficiency virus (HIV) infection. Two independent random digit dial statewide Massachusetts surveys of 16- to 19-year-old persons conducted August through September 1986 and 1988 revealed that the proportion of teenagers who had discussed ac...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Hingson R,Strunin L,Berlin B

    更新日期:1990-01-01 00:00:00

  • Educational principles of community-based education.

    abstract::Much of medical education remains teacher centered, as exemplified by the continued emphasis on lectures. Increasingly, however, the importance of the learner is being recognized and acknowledged in medical school curricula. The distinction between teaching and learning is also an issue for graduate medical education;...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Roberts KB

    更新日期:1996-12-01 00:00:00

  • Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

    abstract::A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the oxidation of medium-chain fatty acids. One of the children suddenly died at the age of 16 months following an episode of a rapidly deteriorating Reye syndrome-like illness with hypoketotic hypog...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Duran M,Hofkamp M,Rhead WJ,Saudubray JM,Wadman SK

    更新日期:1986-12-01 00:00:00

  • Romantic Relationships in Transgender Adolescents: A Qualitative Study.

    abstract:BACKGROUND:Identity formation and exploration of interpersonal relationships are important tasks that occur during adolescence. Transgender, gender diverse, and gender-nonconforming (TGNC) individuals must face these developmental milestones in the context of their transgender identity. Our aim with this article is to ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-007906

    authors: Araya AC,Warwick R,Shumer D,Selkie E

    更新日期:2021-02-01 00:00:00

  • Pretransport and posttransport characteristics and outcomes of neonates who were admitted to a cardiac intensive care unit.

    abstract:OBJECTIVE:The objective for this study was to characterize the impact and the safety of transporting neonates with known or suspected cardiac abnormalities. METHODS:We reviewed retrospectively the charts and computerized records of 192 admissions to a cardiac ICU in 2002. Patients were included when they were < 28 day...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-0719

    authors: Yeager SB,Horbar JD,Greco KM,Duff J,Thiagarajan RR,Laussen PC

    更新日期:2006-09-01 00:00:00

  • Tocopherol efficacy and safety for preventing retinopathy of prematurity: a randomized, controlled, double-masked trial.

    abstract::To test the efficacy and safety of vitamin E in preventing retinopathy of prematurity, 287 infants with birth weights of less than 1.5 kg or gestational ages of less than 33 weeks were enrolled within 24 hours of birth in a randomized, double-masked trial of IV, followed by oral, placebo v tocopherol (adjusted to plas...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Phelps DL,Rosenbaum AL,Isenberg SJ,Leake RD,Dorey FJ

    更新日期:1987-04-01 00:00:00

  • Pulse oxygen saturation levels and arterial oxygen tension values in newborns receiving oxygen therapy in the neonatal intensive care unit: is 85% to 93% an acceptable range?

    abstract:OBJECTIVE:Our aim was to define the relationship of PaO(2) and pulse oxygen saturation values during routine clinical practice and to evaluate whether pulse oxygen saturation values between 85% and 93% were associated with PaO(2) levels of <40 mmHg. METHODS:Prospective comparison of PaO(2) and pulse oxygen saturation ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2007-0117

    authors: Castillo A,Sola A,Baquero H,Neira F,Alvis R,Deulofeut R,Critz A

    更新日期:2008-05-01 00:00:00

  • Distinguishing sepsis from blood culture contamination in young infants with blood cultures growing coagulase-negative staphylococci.

    abstract::In the ideal situation, the evaluation for sepsis in the young infant should include collection of multiple blood cultures before the institution of antibiotics. Unfortunately, in some infants, it may not be possible to obtain more than a single blood culture at the time of initial evaluation. If this single culture u...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: St Geme JW 3rd,Bell LM,Baumgart S,D'Angio CT,Harris MC

    更新日期:1990-08-01 00:00:00

  • Efficacy of intranasal midazolam in facilitating suturing of lacerations in preschool children in the emergency department.

    abstract::Sedating children safely and effectively for minor laceration repair is a well-recognized clinical problem. A randomized, double-blind, and controlled study was conducted to evaluate the efficacy of intranasal midazolam for reducing stress during the suturing of lacerations in preschool children. Fifty-nine children w...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Theroux MC,West DW,Corddry DH,Hyde PM,Bachrach SJ,Cronan KM,Kettrick RG

    更新日期:1993-03-01 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

  • Collaborative office rounds: continuing education in the psychosocial/developmental aspects of child health.

    abstract:OBJECTIVES:In recent years there has been increasing emphasis on the mental health aspects of primary health care for children and adolescents. The Health Resources and Services Administration's Maternal and Child Health Bureau has contributed to efforts aimed at strengthening primary care not only in early identificat...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.99.4.e5

    authors: Fishman ME,Kessel W,Heppel DE,Brannon ME,Papai JJ,Bryn SD,Nora AH,Hutchins VL

    更新日期:1997-04-01 00:00:00

  • Feeding and urine cotinine values in babies whose mothers smoke.

    abstract::In Canada, 8% to 20% of infants are breast-fed by mothers who smoke. To determine whether breast-feeding increases infants' exposure to tobacco smoke products, urinary cotinine excretion was measured in 172 babies, 33 of whom were breast-fed. A milk sample was taken from the mothers who were breast-feeding, and cotini...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Labrecque M,Marcoux S,Weber JP,Fabia J,Ferron L

    更新日期:1989-01-01 00:00:00

  • Empyema hospitalizations increased in US children despite pneumococcal conjugate vaccine.

    abstract:OBJECTIVE:To determine if the incidence of empyema among children in the United States has changed since the introduction of the pneumococcal conjugate vaccine in 2000. METHODS:We used the nationally representative Kids' Inpatient Database to estimate the annual total number of hospitalizations of children < or = 18 y...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-0184

    authors: Li ST,Tancredi DJ

    更新日期:2010-01-01 00:00:00

  • Dental caries and beverage consumption in young children.

    abstract:OBJECTIVE:Dental caries is a common, chronic disease of childhood. The impact of contemporary changes in beverage patterns, specifically decreased milk intakes and increased 100% juice and soda pop intakes, on dental caries in young children is unknown. We describe associations among caries experience and intakes of da...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.112.3.e184

    authors: Marshall TA,Levy SM,Broffitt B,Warren JJ,Eichenberger-Gilmore JM,Burns TL,Stumbo PJ

    更新日期:2003-09-01 00:00:00

  • Nurse Home Visiting and Maternal Mental Health: 3-Year Follow-Up of a Randomized Trial.

    abstract:BACKGROUND:Poor mental health is recognized as one of the greatest global burdens of disease. Maternal mental health is crucial for the optimal health of mothers and their children. We examined the effects of an Australian Nurse Home Visiting (NHV) program (right@home), offered to pregnant women experiencing adversity,...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-025361

    authors: Goldfeld S,Bryson H,Mensah F,Gold L,Orsini F,Perlen S,Price A,Hiscock H,Grobler A,Dakin P,Bruce T,Harris D,Kemp L

    更新日期:2021-02-01 00:00:00

  • Neonatal Acute Kidney Injury.

    abstract::In recent years, there have been significant advancements in our understanding of acute kidney injury (AKI) and its impact on outcomes across medicine. Research based on single-center cohorts suggests that neonatal AKI is very common and associated with poor outcomes. In this state-of-the-art review on neonatal AKI, w...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2014-3819

    authors: Selewski DT,Charlton JR,Jetton JG,Guillet R,Mhanna MJ,Askenazi DJ,Kent AL

    更新日期:2015-08-01 00:00:00

  • Eosinophilic cystitis in a 4-year-old boy: successful long-term treatment with cyclosporin A.

    abstract::A 4-year-old Jewish boy presented with dysuria, urinary dribbling, increased urinary frequency, and new onset of diurnal enuresis. An infiltrating solid mass involving the entire bladder wall was found. Biopsy revealed "tumor-forming" eosinophilic cystitis, a rare bladder lesion of unclear cause. Antitoxocariasis trea...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.108.6.e113

    authors: Pomeranz A,Eliakim A,Uziel Y,Gottesman G,Rathaus V,Zehavi T,Wolach B

    更新日期:2001-12-01 00:00:00

  • Q-oTc interval and blood calcium levels in newborn infants.

    abstract::The interval from the beginning of the Q wave to the origin of the T wave (Q-oTc interval) and total and ionized serum calcium levels were measured in 27 full-term and 77 premature infants. The correlation between Q-oTc and total and ionized calcium levels was significant in both full-term and normal premature infants...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Giacoia GP,Wagner HR

    更新日期:1978-06-01 00:00:00

  • Prevalence of Chlamydia trachomatis and Neisseria gonorrhoeae infection in pediatric private practice.

    abstract:BACKGROUND:Universal screening of sexually active adolescents for Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (GC) has been recommended in settings in which prevalence is 2% or greater. Although believed to be above 2%, the prevalence of CT and GC infection in private practice settings has not been clearly est...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.108.6.e103

    authors: Best D,Ford CA,Miller WC

    更新日期:2001-12-01 00:00:00

  • In utero exposure to dichlorodiphenyltrichloroethane (DDT) and dichlorodiphenyldichloroethylene (DDE) and neurodevelopment among young Mexican American children.

    abstract:OBJECTIVE:We investigated the relationship between prenatal exposure to dichlorodiphenyltrichloroethane (DDT) and dichlorodiphenyldichloroethylene (DDE) and neurodevelopment of Mexican farm-workers' children in California. METHODS:Participants from the Center for the Health Assessment of Mothers and Children of Salina...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-3117

    authors: Eskenazi B,Marks AR,Bradman A,Fenster L,Johnson C,Barr DB,Jewell NP

    更新日期:2006-07-01 00:00:00

  • Medically uninsured children in the United States: a challenge to public policy.

    abstract::This article is an examination of the nature and extent of the problem presented by medically uninsured children in the United States. First, the characteristics of the uninsured population are explored with a description of how age, family income, and employment status disproportionately affect families with children...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Oberg CN

    更新日期:1990-05-01 00:00:00

  • Parent-Adolescent Agreement About Adolescents' Suicidal Thoughts.

    abstract::: media-1vid110.1542/5972300121001PEDS-VA_2018-1771Video Abstract OBJECTIVES: To examine agreement between parent and adolescent reports of adolescents' suicidal thoughts and explore demographic and clinical factors associated with agreement in a large community sample. METHODS:Participants included 5137 adolescents ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2018-1771

    authors: Jones JD,Boyd RC,Calkins ME,Ahmed A,Moore TM,Barzilay R,Benton TD,Gur RE

    更新日期:2019-02-01 00:00:00

  • Spontaneous Closure of Patent Ductus Arteriosus in Infants ≤1500 g.

    abstract:OBJECTIVES:Patent ductus arteriosus (PDA) remains a challenging issue in very low birth weight (VLBW) infants, and its management varies widely. Our aim in this study was to document the natural course of ductus arteriosus in a cohort of VLBW infants who underwent conservative PDA management with no medical or surgical...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2016-4258

    authors: Semberova J,Sirc J,Miletin J,Kucera J,Berka I,Sebkova S,O'Sullivan S,Franklin O,Stranak Z

    更新日期:2017-08-01 00:00:00

  • Psychosocial and environmental correlates of adolescent sedentary behaviors.

    abstract:OBJECTIVE:To determine correlates of sedentary behaviors in adolescents through the examination of psychosocial and environmental variables. METHOD:The study used a cross-sectional design to evaluate an ethnically diverse clinic-based sample of 878 adolescents who were 11 to 15 years old. Bivariate and multivariate an...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-1814

    authors: Norman GJ,Schmid BA,Sallis JF,Calfas KJ,Patrick K

    更新日期:2005-10-01 00:00:00

  • Regulatory barriers to clinical trial enrollment of adolescent and young adult oncology patients.

    abstract::Adolescent and young adult (AYA) patients with cancer may face unique challenges if they and their families wish to participate in clinical oncology trials. Regulatory guidelines and funding requirements put in place to protect patients may actually raise barriers to enrollment in clinical trials. Hospital age guideli...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2014-0122H

    authors: Felgenhauer J,Hooke MC

    更新日期:2014-06-01 00:00:00

  • Changes in children's physical activity over 12 months: longitudinal results from the SPEEDY study.

    abstract:OBJECTIVE:We measured physical activity changes among 10-year-old British children over 12 months and assessed biological and demographic determinants. METHODS:Physical activity was measured with accelerometers (counts per minute) over ≥3 days at baseline and 1 year later in a prospective study of 844 children (41.6% ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2010-0048

    authors: Corder K,van Sluijs EM,Ekelund U,Jones AP,Griffin SJ

    更新日期:2010-10-01 00:00:00

  • Assessment of pediatricians by a regulatory authority.

    abstract:OBJECTIVE:To determine whether it is possible to develop feasible, valid, and reliable multisource feedback data for pediatricians. METHODS:Surveys with 40, 22, 38, and 37 items were developed for assessment of pediatricians by patients, co-workers, medical colleagues, and themselves, respectively, using 5-point scale...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-1403

    authors: Violato C,Lockyer JM,Fidler H

    更新日期:2006-03-01 00:00:00

  • Maternal and infant factors associated with failure to thrive in children with vertically transmitted human immunodeficiency virus-1 infection: the prospective, P2C2 human immunodeficiency virus multicenter study.

    abstract:OBJECTIVE:Many children with human immunodeficiency virus-1 (HIV-1) have chronic problems with growth and nutrition, yet limited information is available to identify infected children at high risk for growth abnormalities. Using data from the prospective, multicenter P2C2 HIV study, we evaluated the relationships betwe...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.108.6.1287

    authors: Miller TL,Easley KA,Zhang W,Orav EJ,Bier DM,Luder E,Ting A,Shearer WT,Vargas JH,Lipshultz SE,Pediatric Pulmonary and Cardiovascular Complications of Vertically Transmitted HIV Infection (P2C2 HIV) Study Group.,National Heart, Lung,

    更新日期:2001-12-01 00:00:00