Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect.

Abstract:

:An instructive case of isolated congenital folate malabsorption provides insight into the understanding of this rare disease. Folate loading tests with both timed serum and cerebrospinal fluid folate determinations suggest that both of the two mechanisms involved in gastrointestinal folate absorption are defective in this condition.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Malatack JJ,Moran MM,Moughan B

doi

10.1542/peds.104.5.1133

subject

Has Abstract

pub_date

1999-11-01 00:00:00

pages

1133-7

issue

5 Pt 1

eissn

0031-4005

issn

1098-4275

journal_volume

104

pub_type

杂志文章
  • Narrow vs broad-spectrum antimicrobial therapy for children hospitalized with pneumonia.

    abstract:BACKGROUND:The 2011 Pediatric Infectious Diseases Society/Infectious Diseases Society of America community-acquired pneumonia (CAP) guideline recommends narrow-spectrum antimicrobial therapy for most children hospitalized with CAP. However, few studies have assessed the effectiveness of this strategy. METHODS:Using da...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2013-1614

    authors: Williams DJ,Hall M,Shah SS,Parikh K,Tyler A,Neuman MI,Hersh AL,Brogan TV,Blaschke AJ,Grijalva CG

    更新日期:2013-11-01 00:00:00

  • Early diagnosis of coarctation of the aorta in children: a continuing dilemma.

    abstract:UNLABELLED:Because late repair of coarctation of the aorta (COA) is associated with premature cardiovascular disease in adult life, early detection and treatment is important. OBJECTIVES:To determine the timing of referral to see whether early detection of COA has improved in the past decade, to evaluate the pattern o...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Ing FF,Starc TJ,Griffiths SP,Gersony WM

    更新日期:1996-09-01 00:00:00

  • Ostensible versus actual reasons for seeking pediatric attention: another look at the parental ticket of admission.

    abstract::The presentation of parental anxiety that appears excessive in view of the nature of the child's "chief complaint" is a frequent occurrence in pediatric practice. This study reviews 370 sick-patient visits in one pediatric office during a three-month period. Additional questioning in the area of parental anxieties con...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bass LW,Cohen RL

    更新日期:1982-12-01 00:00:00

  • Diagnostic imaging and negative appendectomy rates in children: effects of age and gender.

    abstract:BACKGROUND AND OBJECTIVES:Diagnostic imaging is often used in the evaluation of children with possible appendicitis. The utility of imaging may vary according to a patient's age and gender. The objectives of this study were (1) to examine the use of computed tomography (CT) and ultrasound for age and gender subgroups o...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2011-3375

    authors: Bachur RG,Hennelly K,Callahan MJ,Chen C,Monuteaux MC

    更新日期:2012-05-01 00:00:00

  • Impact of maternal diabetes mellitus on mortality and morbidity of preterm infants (24-33 weeks' gestation).

    abstract:OBJECTIVE:We hypothesized that maternal diabetes mellitus (DM) increases the risk for mortality, respiratory distress syndrome (RDS), and major complications of prematurity. METHODS:Analysis of prospectively collected (1995-2007) Israel National Very Low Birth Weight Infant Database. Maternal DM was recorded as preges...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2010-3443

    authors: Bental Y,Reichman B,Shiff Y,Weisbrod M,Boyko V,Lerner-Geva L,Mimouni FB,Collaboration With the Israel Neonatal Network.

    更新日期:2011-10-01 00:00:00

  • Cost-effective treatment of phimosis.

    abstract:OBJECTIVE:To determine the most cost-effective treatment for phimosis. DESIGN:The costs of three treatment strategies for treating phimosis were evaluated using a decision-tree analysis. Three therapeutic approaches were considered: circumcision, preputial plasty (the use of plastic surgical techniques to enlarge the ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.102.4.e43

    authors: Van Howe RS

    更新日期:1998-10-01 00:00:00

  • Exclusive breastfeeding protects against bacterial colonization and day care exposure to otitis media.

    abstract:OBJECTIVE:We followed a cohort (N = 306) of infants at well-baby visits in two suburban pediatric practices to assess the relation of exclusive breastfeeding, and other environmental exposures, to episodes of acute otitis media (AOM) and otitis media with effusion (OME). METHODS:Detailed prospective information about ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.100.4.e7

    authors: Duffy LC,Faden H,Wasielewski R,Wolf J,Krystofik D

    更新日期:1997-10-01 00:00:00

  • Prospective longitudinal study of children with tic disorders and/or obsessive-compulsive disorder: relationship of symptom exacerbations to newly acquired streptococcal infections.

    abstract:BACKGROUND:It has been proposed that infection by group A beta-hemolytic streptococci (GABHS) can trigger acute symptom exacerbations among patients with Tourette's syndrome (TS) or obsessive-compulsive disorder (OCD), via autoimmune mechanisms. OBJECTIVE:To examine the temporal relationship between newly acquired GAB...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.113.6.e578

    authors: Luo F,Leckman JF,Katsovich L,Findley D,Grantz H,Tucker DM,Lombroso PJ,King RA,Bessen DE

    更新日期:2004-06-01 00:00:00

  • Simulation in Pediatric Emergency Medicine Fellowships.

    abstract:BACKGROUND AND OBJECTIVES:Graduate medical education faces challenges as programs transition to the next accreditation system. Evidence supports the effectiveness of simulation for training and assessment. This study aims to describe the current use of simulation and barriers to its implementation in pediatric emergenc...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2014-4158

    authors: Doughty CB,Kessler DO,Zuckerbraun NS,Stone KP,Reid JR,Kennedy CS,Nypaver MM,Auerbach MA

    更新日期:2015-07-01 00:00:00

  • A cluster of children with seizures caused by camphor poisoning.

    abstract:BACKGROUND:Isolated cases of camphor-induced seizures have been reported in young children after gastrointestinal, dermal, and inhalation exposure. In 1982, after a series of unintentional ingestions of camphor products, the US Food and Drug Administration restricted the camphor content to <11% in some products intende...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-2097

    authors: Khine H,Weiss D,Graber N,Hoffman RS,Esteban-Cruciani N,Avner JR

    更新日期:2009-05-01 00:00:00

  • Infant-feeding methods and childhood sleep-disordered breathing.

    abstract:OBJECTIVE:Childhood sleep-disordered breathing has an adverse impact on cognitive development, behavior, quality of life, and use of health care resources. Early viral infections and other immune-mediated responses may contribute to development of the chronic inflammation of the upper airway and hypertrophic upper airw...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2007-0722

    authors: Montgomery-Downs HE,Crabtree VM,Sans Capdevila O,Gozal D

    更新日期:2007-11-01 00:00:00

  • Low-dose atomoxetine for maintenance treatment of attention-deficit/hyperactivity disorder.

    abstract:OBJECTIVE:Data from acute studies of atomoxetine in patients with attention-deficit/hyperactivity disorder suggest that a dose of approximately 1.2 mg/kg per day is required to attain a maximal symptom response. However, lower doses could be effective during maintenance treatment, which would reduce drug exposure and p...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2005-2999

    authors: Newcorn JH,Michelson D,Kratochvil CJ,Allen AJ,Ruff DD,Moore RJ,Atomoxetine Low-dose Study Group.

    更新日期:2006-12-01 00:00:00

  • Children Exposed to Maltreatment: Assessment and the Role of Psychotropic Medication.

    abstract::Pediatricians regularly care for children who have experienced child maltreatment. Child maltreatment is a risk factor for a broad range of mental health problems. Issues specific to child maltreatment make addressing emotional and behavioral challenges among maltreated children difficult. This clinical report focuses...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2019-3751

    authors: Keeshin B,Forkey HC,Fouras G,MacMillan HL,AMERICAN ACADEMY OF PEDIATRICS, COUNCIL ON CHILD ABUSE AND NEGLECT, COUNCIL ON FOSTER CARE, ADOPTION, AND KINSHIP CARE, AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, COMMITTEE ON CHILD MALTREATMEN

    更新日期:2020-02-01 00:00:00

  • Hypokalemic metabolic alkalosis in normotensive infants with elevated plasma renin activity and hyperaldosteronism: role of dietary chloride deficiency.

    abstract::The role of chloride deficiency in the generation of hypokalemic metabolic alkalosis with elevated plasma renin activity and plasma aldosterone levels, normal blood pressure, and a renal concentrating defect was studied in six infants given a soy formula that was deficient in chloride. A deceleration in linear growth,...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Roy S 3rd,Arant BS Jr

    更新日期:1981-03-01 00:00:00

  • A systematic review of faces scales for the self-report of pain intensity in children.

    abstract:CONTEXT:Numerous faces scales have been developed for the measurement of pain intensity in children. It remains unclear whether any one of the faces scales is better for a particular purpose with regard to validity, reliability, feasibility, and preference. OBJECTIVES:To summarize and systematically review faces pain ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2010-1609

    authors: Tomlinson D,von Baeyer CL,Stinson JN,Sung L

    更新日期:2010-11-01 00:00:00

  • Observations on a recent increase in plagiocephaly without synostosis.

    abstract:OBJECTIVE:To verify and determine the cause of an increase in the referral of infants with plagiocephaly without synostosis (PWS) to a single tertiary craniofacial center. DESIGN:A chart review was performed for 269 infants with a diagnosis of PWS who presented to a single tertiary craniofacial center between 1979 and...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Kane AA,Mitchell LE,Craven KP,Marsh JL

    更新日期:1996-06-01 00:00:00

  • Heelys and street gliders injuries: a new type of pediatric injury.

    abstract:OBJECTIVES:Our goals were to highlight an increasing trend in orthopedic injuries in children as a result of "heeling" or "street gliding," to describe injuries sustained by children using Heelys (HSL, Carrollton, TX) and Street Gliders (Glowgadgets Ltd, Bristol, United Kingdom), and to increase public awareness and pr...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-2882

    authors: Vioreanu M,Sheehan E,Glynn A,Casidy N,Stephens M,McCormack D

    更新日期:2007-06-01 00:00:00

  • Association of race and ethnicity with management of abdominal pain in the emergency department.

    abstract:OBJECTIVE:To determine if race/ethnicity-based differences exist in the management of pediatric abdominal pain in emergency departments (EDs). METHODS:Secondary analysis of data from the 2006-2009 National Hospital Ambulatory Medical Care Survey regarding 2298 visits by patients ≤ 21 years old who presented to EDs wit...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2012-3127

    authors: Johnson TJ,Weaver MD,Borrero S,Davis EM,Myaskovsky L,Zuckerbraun NS,Kraemer KL

    更新日期:2013-10-01 00:00:00

  • Intrahepatic cholestasis associated with parenteral nutrition in premature infants.

    abstract::Sixty-two premature infants less than 2,000 gm birth weight received parenteral nutrition (PN) during periods of respiratory distress with feeding intolerance. Intrahepatic cholestasis (direct bilirubin greater than or equal to 1.5 mg/dl) associated with PN developed in 14 or 23% of these infants. The mean time on PN ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Beale EF,Nelson RM,Bucciarelli RL,Donnelly WH,Eitzman DV

    更新日期:1979-09-01 00:00:00

  • Clinical report--guidelines for the ethical conduct of studies to evaluate drugs in pediatric populations.

    abstract::The proper ethical conduct of studies to evaluate drugs in children is of paramount importance to all those involved in these types of studies. This report is an updated revision to the previously published guidelines from the American Academy of Pediatrics in 1995. Since the previous publication, there have been grea...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2010-0082

    authors: Shaddy RE,Denne SC,Committee on Drugs and Committee on Pediatric Research.

    更新日期:2010-04-01 00:00:00

  • Socioeconomic, family, and pediatric practice factors that affect level of asthma control.

    abstract:BACKGROUND:Multiple issues play a role in the effective control of childhood asthma. OBJECTIVE:To identify factors related to the level of asthma control in children receiving asthma care from community pediatricians. PATIENTS AND METHODS:Data for 362 children participating in an intervention study to reduce asthma m...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2008-0504

    authors: Bloomberg GR,Banister C,Sterkel R,Epstein J,Bruns J,Swerczek L,Wells S,Yan Y,Garbutt JM

    更新日期:2009-03-01 00:00:00

  • Newborn Screening for Cystic Fibrosis in California.

    abstract:OBJECTIVES:This article describes the methods used and the program performance results for the first 5 years of newborn screening for cystic fibrosis (CF) in California. METHODS:From July 16, 2007, to June 30, 2012, a total of 2,573,293 newborns were screened for CF by using a 3-step model: (1) measuring immunoreactiv...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2015-0811

    authors: Kharrazi M,Yang J,Bishop T,Lessing S,Young S,Graham S,Pearl M,Chow H,Ho T,Currier R,Gaffney L,Feuchtbaum L,California Cystic Fibrosis Newborn Screening Consortium.

    更新日期:2015-12-01 00:00:00

  • Identifying and treating a substandard housing cluster using a medical-legal partnership.

    abstract:BACKGROUND AND OBJECTIVE:There is a documented connection between the home environment and health. Medical-legal partnerships (MLPs) can address social and environmental determinants of health. Our objective was to describe a cluster of substandard housing identified and treated by an MLP based in a pediatric primary c...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2012-0769

    authors: Beck AF,Klein MD,Schaffzin JK,Tallent V,Gillam M,Kahn RS

    更新日期:2012-11-01 00:00:00

  • Safety and efficacy of long-term diet and diet plus bile acid-binding resin cholesterol-lowering therapy in 73 children heterozygous for familial hypercholesterolemia.

    abstract::Our specific aim was to examine the efficacy and safety of long-term cholesterol-lowering diet and bile acid-binding resin therapy in 73 children heterozygous for familial hypercholesterolemia (FH). We prospectively followed accretion of height and weight in 40 FH children for 5.8 years on diet alone and in 33 FH chil...

    journal_title:Pediatrics

    pub_type: 杂志文章,收录出版

    doi:

    authors: Glueck CJ,Mellies MJ,Dine M,Perry T,Laskarzewski P

    更新日期:1986-08-01 00:00:00

  • Neck/shoulder, low back, and arm pain in relation to computer use, physical activity, stress, and depression among Dutch adolescents.

    abstract:OBJECTIVE:To examine among adolescents (1) the prevalence of neck/shoulder, low back, and arm pain within different sociodemographic groups and (2) the association of neck/shoulder, low back, and arm pain with computer use, physical activity, depression, and stress. METHODS:A school-based questionnaire survey in 2002 ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-2766

    authors: Diepenmaat AC,van der Wal MF,de Vet HC,Hirasing RA

    更新日期:2006-02-01 00:00:00

  • Fruit Juice in Infants, Children, and Adolescents: Current Recommendations.

    abstract::Historically, fruit juice was recommended by pediatricians as a source of vitamin C and as an extra source of water for healthy infants and young children as their diets expanded to include solid foods with higher renal solute load. It was also sometimes recommended for children with constipation. Fruit juice is marke...

    journal_title:Pediatrics

    pub_type: 指南,杂志文章

    doi:10.1542/peds.2017-0967

    authors: Heyman MB,Abrams SA,SECTION ON GASTROENTEROLOGY, HEPATOLOGY, AND NUTRITION.,COMMITTEE ON NUTRITION.

    更新日期:2017-06-01 00:00:00

  • The role of parental preferences in the management of fever without source among 3- to 36-month-old children: a decision analysis.

    abstract:OBJECTIVES:Recent analyses assessing the impact of the conjugate pneumococcal vaccine on the care of febrile children do not reflect the role parental preferences play in physicians' decisions. The objective of this study was to identify the management strategy that would best suit parents, on the basis of their values...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-1865

    authors: Madsen KA,Bennett JE,Downs SM

    更新日期:2006-04-01 00:00:00

  • Impact of postpartum hospital-stay legislation on newborn length of stay, readmission, and mortality in California.

    abstract:OBJECTIVES:The objectives of this study were to examine the impact of postpartum hospital-stay legislation on newborns' length of stay, neonatal readmissions, and 1-year mortality in California, and whether this legislation had differential impacts by demographics and complications during delivery or pregnancy. METHOD...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-3044

    authors: Datar A,Sood N

    更新日期:2006-07-01 00:00:00

  • False-positive tricyclic antidepressant drug screen results leading to the diagnosis of carbamazepine intoxication.

    abstract::Ingestion of toxic substances is a common problem in pediatrics. When presented with the limited history of an unknown ingestion in a patient with altered mental status, a clinician depends on the physical examination and a toxic screen to determine the ingested substance(s). Some toxic screens yield false-positive or...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.105.5.e66

    authors: Matos ME,Burns MM,Shannon MW

    更新日期:2000-05-01 00:00:00

  • Fruit Consumption by Youth in the United States.

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    pub_type: 杂志文章

    doi:10.1542/peds.2015-1709

    authors: Herrick KA,Rossen LM,Nielsen SJ,Branum AM,Ogden CL

    更新日期:2015-10-01 00:00:00