Gaucher's disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy.

Abstract:

:We report on the case of a girl with type 1 Gaucher's disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher's disease, alternative strategies such as fractionated or further increased ERT, gene therapy, or glucosyltransferase inhibitor should be explored.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Perel Y,Bioulac-Sage P,Chateil JF,Trillaud H,Carles J,Lamireau T,Guillard JM

doi

10.1542/peds.109.6.1170

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

1170-3

issue

6

eissn

0031-4005

issn

1098-4275

journal_volume

109

pub_type

杂志文章
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    doi:10.1542/peds.2019-3007

    authors: Mull ES,Erdem G,Nicol K,Adler B,Shell R

    更新日期:2020-04-01 00:00:00

  • Influenza burden for children with asthma.

    abstract:OBJECTIVE:The goal was to estimate the influenza disease burden among children with asthma and among healthy children by using active, laboratory-confirmed, population-based surveillance. METHODS:Children 6 to 59 months of age residing in 3 US counties who were hospitalized with acute respiratory illnesses or fever we...

    journal_title:Pediatrics

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    doi:10.1542/peds.2007-1053

    authors: Miller EK,Griffin MR,Edwards KM,Weinberg GA,Szilagyi PG,Staat MA,Iwane MK,Zhu Y,Hall CB,Fairbrother G,Seither R,Erdman D,Lu P,Poehling KA,New Vaccine Surveillance Network.

    更新日期:2008-01-01 00:00:00

  • Weight for gestational age affects the mortality of late preterm infants.

    abstract:BACKGROUND:Late preterm infant mortality is higher than that for term newborns. The association between weight for gestational age (WGA) category and late preterm mortality has not been well described. OBJECTIVES:Our objectives for this research were as follows: (1) to compare neonatal and infant mortality rates of SG...

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    doi:10.1542/peds.2008-3288

    authors: Pulver LS,Guest-Warnick G,Stoddard GJ,Byington CL,Young PC

    更新日期:2009-06-01 00:00:00

  • Prediction of digoxin treatment failure in infants with supraventricular tachycardia: role of transesophageal pacing.

    abstract::Transesophageal atrial pacing was used to initiate and terminate tachycardia in 24 infants (seven female and 17 male, aged 1 to 34 days) with ECG documentation of supraventricular tachycardia. Six infants received no chronic treatment, and chronic oral digoxin prophylaxis was administered to 18 infants in an effort to...

    journal_title:Pediatrics

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    doi:

    authors: Benson DW Jr,Dunnigan A,Benditt DG,Thompson TR,Narayan A,Boros S

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  • Case Report: When an Induced Illness Looks Like a Rare Disease.

    abstract::The recognition of fabricated illness (FI) in a child represents a diagnostic challenge. The suspicion of FI often arises from the discrepancy between laboratory tests and clinical history. For instance, (unnecessary) insulin injections by caregivers has been widely described as a common cause of factitious hypoglycem...

    journal_title:Pediatrics

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    doi:10.1542/peds.2014-4165

    authors: Rabbone I,Galderisi A,Tinti D,Ignaccolo MG,Barbetti F,Cerutti F

    更新日期:2015-11-01 00:00:00

  • Cardiometabolic risk factors among US adolescents and young adults and risk of early mortality.

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    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2012-2583

    authors: Saydah S,Bullard KM,Imperatore G,Geiss L,Gregg EW

    更新日期:2013-03-01 00:00:00

  • Infant weight gain and school-age blood pressure and cognition in former preterm infants.

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    pub_type: 杂志文章

    doi:10.1542/peds.2009-2746

    authors: Belfort MB,Martin CR,Smith VC,Gillman MW,McCormick MC

    更新日期:2010-06-01 00:00:00

  • Rapid loading of critically ill patients with carbamazepine suspension.

    abstract::To determine the rate and factors that affect carbamazepine absorption, six patients being treated in the pediatric intensive care unit for frequent seizures received loading doses (7.4 to 10.4 mg/kg) of carbamazepine suspension by either nasogastric or nasoduodenal tube. Carbamazepine serum concentrations were determ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Miles MV,Lawless ST,Tennison MB,Zaritsky AL,Greenwood RS

    更新日期:1990-08-01 00:00:00

  • Validity of mass blood pressure screening in children.

    abstract::The validity of a mass blood pressure screening program carried out on Dallas high school students who were followed for at least 3 years is reported. Blood pressure results on initial screening in the tenth grade were related to outcome blood pressure status. The frequency of initial blood pressure elevation (systoli...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Fixler DE,Laird WP

    更新日期:1983-10-01 00:00:00

  • Elevated lead levels in children with nonorganic failure to thrive.

    abstract::Every child with failure to thrive has at least one organic medical disease: malnutrition. It is well documented that lead and other heavy metals are absorbed more readily in the presence of both malnutrition and iron deficiency anemia. Malnutrition and lead exposure tend to be found in the same population groups. Fur...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Bithoney WG

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  • Association of consumption of fried food away from home with body mass index and diet quality in older children and adolescents.

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    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-2732

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    更新日期:2005-10-01 00:00:00

  • A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

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    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.100.3.e5

    authors: Kerem E,Nissim-Rafinia M,Argaman Z,Augarten A,Bentur L,Klar A,Yahav Y,Szeinberg A,Hiba O,Branski D,Corey M,Kerem B

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  • Isolation of toxin producing Clostridium difficile from two children with oxacillin- and dicloxacillin-associated diarrhea.

    abstract::Clostridium difficile was isolated from the feces of two infants who had developed watery diarrhea with blood-tinged stain. One child suffered from diarrhea after five days of parenteral oxacillin therapy; the diarrhea subsided within three days of cessation of therapy. The other infant developed diarrhea following fo...

    journal_title:Pediatrics

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    更新日期:1980-06-01 00:00:00

  • Sleep duration and adolescent obesity.

    abstract:OBJECTIVES:Short sleep has been associated with adolescent obesity. Most studies used a cross-sectional design and modeled BMI categories. We sought to determine if sleep duration was associated with BMI distribution changes from age 14 to 18. METHODS:Adolescents were recruited from suburban high schools in Philadelph...

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    pub_type: 杂志文章

    doi:10.1542/peds.2012-2368

    authors: Mitchell JA,Rodriguez D,Schmitz KH,Audrain-McGovern J

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  • A Multifaceted Approach to Improving Outcomes in the NICU: The Pediatrix 100 000 Babies Campaign.

    abstract:BACKGROUND AND OBJECTIVE:Despite advances in neonatal medicine, infants requiring neonatal intensive care continue to experience substantial morbidity and mortality. The purpose of this initiative was to generate large-scale simultaneous improvements in multiple domains of care in a large neonatal network through a pro...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2015-0389

    authors: Ellsbury DL,Clark RH,Ursprung R,Handler DL,Dodd ED,Spitzer AR

    更新日期:2016-04-01 00:00:00

  • Effect of allopurinol on postasphyxial free radical formation, cerebral hemodynamics, and electrical brain activity.

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    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章

    doi:10.1542/peds.101.2.185

    authors: Van Bel F,Shadid M,Moison RM,Dorrepaal CA,Fontijn J,Monteiro L,Van De Bor M,Berger HM

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  • Comparison of urinary lactic dehydrogenase with antibody-coated bacteria in the urine sediment as means of localizing the site of urinary tract infection.

    abstract::Two noninvasive methods of localizing the site of urinary tract infection, urinary lactic dehydrogenase (LDH) isoenzymes and antibody coating of bacteria in the urinary sediment, have been prospectively compared with the bladder washout technique in a series of children with urinary tract infection. Fifteen children h...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Lorentz WB Jr,Resnick MI

    更新日期:1979-11-01 00:00:00

  • Helping Babies Survive Programs as an Impetus for Quality Improvement.

    abstract::Achieving the ambitious reduction in global neonatal mortality targeted in the Sustainable Development Goals and Every Newborn Action Plan will require reducing geographic disparities in newborn deaths through targeted implementation of evidence-based practices. Helping Babies Survive, a suite of educational programs ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-016915J

    authors: Ehret DEY,Patterson JK,Kc A,Worku B,Kamath-Rayne BD,Bose CL

    更新日期:2020-10-01 00:00:00

  • Acute confusional migraine in an adolescent: response to intravenous valproate.

    abstract::Acute confusional migraine (ACM) is a dramatic, rare manifestation of migraine described mostly for children and adolescents. There are few data on the treatment of an ACM attack. Prochlorperazine has been suggested as an effective drug. The authors of some reports have suggested that valproic acid may play a role in ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-2717

    authors: Avraham SB,Har-Gil M,Watemberg N

    更新日期:2010-04-01 00:00:00

  • Impact of income and income inequality on infant health outcomes in the United States.

    abstract:OBJECTIVES:The goal was to investigate the relationships of income and income inequality with neonatal and infant health outcomes in the United States. METHODS:The 2000-2004 state data were extracted from the Kids Count Data Center. Health indicators included proportion of preterm births (PTBs), proportion of infants ...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2009-3378

    authors: Olson ME,Diekema D,Elliott BA,Renier CM

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  • 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

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  • Mental Health and Timing of Gender-Affirming Care.

    abstract:BACKGROUND:Gender-incongruent (GI) youth have high rates of mental health problems. Although gender-affirming medical care (GAMC) provides psychological benefit, some GI youth present to care at older ages. Whether a relationship exists between age of presentation to GAMC and mental health difficulties warrants study. ...

    journal_title:Pediatrics

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    doi:10.1542/peds.2019-3600

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  • School-age outcomes in children who were extremely low birth weight from four international population-based cohorts.

    abstract:OBJECTIVE:The aim of this study was to determine whether learning and school problems in extremely low birth weight (ELBW) and reference children differ between cohorts in different countries. METHODS:Participants were 4 international population-based cohorts of ELBW survivors who were 500 to 1000 g birth weight from ...

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    doi:10.1542/peds.112.4.943

    authors: Saigal S,den Ouden L,Wolke D,Hoult L,Paneth N,Streiner DL,Whitaker A,Pinto-Martin J

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  • Elevated Serum Creatinine: But Is It Renal Failure?

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    doi:10.1542/peds.2019-2828

    authors: Wong Vega M,Swartz SJ,Devaraj S,Poyyapakkam S

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  • Disaster Preparedness in Neonatal Intensive Care Units.

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    pub_type: 杂志文章

    doi:10.1542/peds.2017-0507

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    更新日期:2017-05-01 00:00:00

  • Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

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    pub_type: 杂志文章

    doi:10.1542/peds.2016-1068

    authors: Teoh HL,Solyom A,Schuchman EH,Mowat D,Roscioli T,Farrar M,Sampaio H

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  • International Variability in Gastrointestinal Decontamination With Acute Poisonings.

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