Abstract:
:The treatment of multiple acyl-CoA-dehydrogenase deficiency (MADD) includes a low-fat, low-protein, high-carbohydrate diet, avoiding long fasting periods. However, there is no useful biochemical marker to determine the response to different diets or fasting periods. The aims of this study are to report a patient with MADD, diagnosed through a newborn screening program using tandem mass spectrometry, to assess her response to different feedings, and to evaluate the usefulness of acylcarnitines and FFA to monitor the response to dietary changes. The patient was diagnosed at 6 d. Family history revealed three dead siblings. Five tests were performed, one with breast milk and the subsequent four after giving the patient a bottle of a low-fat, low-protein formula (F), F with glucose polymers (GP), F+GP plus uncooked corn starch (CS), or F+GP+CS preceded by amylase. The results showed that acylcarnitines, FFA, and total nonesterified fatty acids levels were greatly improved at 2 and 4 h on F+GP compared with breast milk. At 6 mo of age, the test with F+CS was repeated to assess the response to a longer fast. The results were similar at 2 and 4 h, but showed a marked increase of acylcarnitines, FFA, and total nonesterified fatty acids at 6 h. The increase of these metabolites could not be avoided by the use of F+GP+CS, but was prevented when amylase was used simultaneously. The patient is currently 3.9 y old and has normal growth and development. We conclude that diagnosis of MADD through a newborn screening program using tandem mass spectrometry is suitable; acylcarnitines and FFA are useful to monitor the response to treatment; and exogenous amylase allows the use of CS in small children with MADD. This therapeutic approach may be an alternative to the use of continuous overnight feedings used for young children with severe fatty acid oxidation defects. Early diagnosis and treatment may change the natural history of MADD.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Abdenur JE,Chamoles NA,Schenone AB,Jorge L,Guinle A,Bernard C,Levandovskiy V,Fusta M,Lavorgna Sdoi
10.1203/00006450-200107000-00013subject
Has Abstractpub_date
2001-07-01 00:00:00pages
61-6issue
1eissn
0031-3998issn
1530-0447journal_volume
50pub_type
杂志文章abstract::In the fetal rat, nitrofen induces congenital diaphragmatic hernia (CDH) and pulmonary vascular remodeling similar to what is observed in the human condition. Airway hyperactivity is common in infants with CDH and attributed to the ventilator-induced airway damage. The purpose of this study was to test the hypothesis ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000057986.74037.7B
更新日期:2003-05-01 00:00:00
abstract:BACKGROUND:Despite substantial heritability in pubertal development, children differ in maturational tempo. HYPOTHESES:(i) puberty and its duration are influenced by early changes in height and adiposity. (ii) Adiposity rebound (AR) is a marker for pubertal tempo. METHODS:We utilized published prospective data from 6...
journal_title:Pediatric research
pub_type: 杂志文章,多中心研究
doi:10.1038/pr.2015.129
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Secondhand smoke (SHS) exposure at home and fetal SHS exposure during pregnancy are a major cause of disease among children. The aim of this study is quantifying the burden of disease due to SHS exposure in children and in pregnancy in 2006-2017 for the 28 European Union (EU) countries. METHODS:Exposure to ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01223-6
更新日期:2020-11-04 00:00:00
abstract::Response characteristics of a transcutaneous PO2 electrode to step changes in PaO2 were determined. In vitro lag time and 95% response time of a transcutaneous PO2 monitor were compared to in vivo response. Release of arterial occlusion was used to produce rapid local PaO2 changes in human infants and adults. In vitro...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198102000-00012
更新日期:1981-02-01 00:00:00
abstract::Normative body composition during the first 2 y of life was derived from a prospective study of 76 children. We present 1) fat free mass (FFM) and its components, and fat mass (FM), 2) incremental growth rates partitioned into chemical components, and 3) age-specific and gender-specific constants for converting chemic...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200005000-00004
更新日期:2000-05-01 00:00:00
abstract::Leukotriene B4 (LTB4) is a product of arachidonic acid metabolism and a potent chemoattractant for adult polymorphonuclear leukocytes (PMN). LTB4 may be an important inflammatory mediator in neonatal lung disorders such as bronchopulmonary dysplasia, but neonatal PMN chemotaxis to LTB4 has not been studied. We compare...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199303000-00006
更新日期:1993-03-01 00:00:00
abstract:BACKGROUND:Preterm infants have a greater risk of necrotizing enterocolitis following transfusion. It is hypothesized that high glucose concentrations in red blood cell (RBC) preservatives lead to increased methylglyoxal (MG) metabolism, causing glycation-driven damage to transfused RBCs. Such changes to the RBCs could...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.243
更新日期:2014-03-01 00:00:00
abstract::Bacterial sepsis is a relatively common problem in the neonatal period, particularly among prematurely delivered infants. The newborn rat has been widely used as a model for sepsis neonatorum, and in that model incomplete development of the neutrophil system has been postulated to be an important factor predisposing n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198407000-00006
更新日期:1984-07-01 00:00:00
abstract::The effects on the conceptus of persistently decreased maternal plasma amino acid concentrations were studied in pregnant rats by the infusion of glucagon (0.21 mg/day) to the mother from day 14 to 20 of gestation with a subcutaneous, osmotically driven minipump. Controls received diluent. The experimental animals eit...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198611000-00002
更新日期:1986-11-01 00:00:00
abstract::The aim of the present study was to determine the proportion of gamma/delta T-lymphocytes and CD16/CD56 (CD3- and CD3+) cells in the peripheral blood of children and adolescents with Graves' disease (GD; n = 27; mean age, 15.5 +/- 5.1 y) and nontoxic nodular goiter (NTNG; n = 25; mean age, 15.2 +/- 5.7 y), in comparis...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000076663.94850.44
更新日期:2003-09-01 00:00:00
abstract:INTRODUCTION:Infection is a risk factor for adverse neurodevelopmental outcome in preterm newborns. Our objective was to characterize the association of postnatal infection with adverse microstructural and metabolic brain development in premature newborns. RESULTS:In 34/117 newborns studied, clinical signs were accomp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.40
更新日期:2012-03-01 00:00:00
abstract::The gastrointestinal (GI) barrier function is immature in the preterm neonate and might thus facilitate translocation of enteric bacteria and gut-derived septicemia. Circumstantial evidence suggests that bacterial uptake from the intestine may be further enhanced by an alteration of the host nutritional status. To tes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199603000-00007
更新日期:1996-03-01 00:00:00
abstract::BackgroundTo investigate the association between electronic cigarette (e-cig) use and smoking cessation among smokers who called the Youth Quitline in Hong Kong.MethodsThis longitudinal study collected data on youth smokers' (N=189) use and perception of e-cigs, conventional cigarette smoking behavior, and sociodemogr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.80
更新日期:2017-07-01 00:00:00
abstract::BackgroundPatent ductus arteriosus (PDA) is a common complication seen in preterm infants. Indomethacin is routinely used to treat PDA. Evidence suggests that the response of indomethacin is highly heritable. This study investigated the association between single-nucleotide polymorphisms (SNPs) in CYP2C9 and the closu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.145
更新日期:2017-11-01 00:00:00
abstract::Delivery of M. nemestrina at 80% of normal gestation provides a population of neonates at high risk for hyaline membrane disease (HMD). The diagnosis of HMD was made by the presence of reticulogranular densities and air bronchograms on chest radiographs. Patchy atelectasis was seen in the lungs of animals assigned by ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197905000-00017
更新日期:1979-05-01 00:00:00
abstract::Vitamin A and its precursor beta-carotene are naturally occurring antioxidants. The effects of diets deficient in beta-carotene and vitamin A on the alveolar-capillary membrane were studied in young adult BALB/C mice before and after exposure to 65% oxygen. One of three diets (standard complete, beta-carotene deficien...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198801000-00017
更新日期:1988-01-01 00:00:00
abstract::We used quin2, a high affinity fluorescent calcium indicator to measure free cytosolic Ca++ in neutrophils isolated from fresh heparinized blood of 13 cystic fibrosis (CF) patients (age range 6-32 yr) and 11 healthy individuals (age range 25-41 yr) as controls. The mean value of free cytosolic Ca++ for CF patients was...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198519040-00006
更新日期:1985-04-01 00:00:00
abstract::Genetic factors cannot explain the recent rapid increase in the incidence of atopic diseases. The phenomenon has been explained by environmental factors, and there are data for and against the hypothesis that a decline in the pressure of microbial stimulation early in life could be behind the allergy epidemic. Changes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200207000-00004
更新日期:2002-07-01 00:00:00
abstract::In the original article, the legend within Fig. 3 incorrectly read as '*p < 0.10, **p < 0.05, ***p > 0.01'. This has now been changed to '*p < 0.10, **p < 0.05, ***p < 0.01'. This has been corrected in both the PDF and HTML versions of the Article. The authors would like to apologise for this error. ...
journal_title:Pediatric research
pub_type: 已发布勘误
doi:10.1038/s41390-019-0323-x
更新日期:2019-04-01 00:00:00
abstract::Primary immunodeficiencies (PIDs) have traditionally been defined according to their immunologic phenotype. Far from being concluded, the search for human genes that, when mutated, cause PID is actively being pursued. During the last year, four novel genetic defects that cause severe combined immunodeficiency and seve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31819dbe1e
更新日期:2009-05-01 00:00:00
abstract::Pediatric research may be entering a period of failure to thrive. This is despite impressive scientific achievements, significant financial benefits, intriguing unanswered questions and a rewarding life for the pediatric researcher. Many of the difficulties are financial and situational, including small departments an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198506000-00019
更新日期:1985-06-01 00:00:00
abstract:BACKGROUND:For the second aim of the Kellogg Foundation grant, this double-blind RCT investigated the impact of plasma vitamin D metabolite 25-hydroxyvitamin D (25(OH)D) on plasma immune-mediators during pregnancy. We hypothesized that higher 25(OH)D concentrations would associate with reduced pro-inflammatory and incr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0885-7
更新日期:2020-04-20 00:00:00
abstract::We assessed the kinetics of hyperoxia-induced prostaglandin E2 (PGE2) production by cultured rabbit tracheal epithelial (TE) cells with different inherent capacities to generate PGE2 and the role of endogenous PGE2 production in protecting these cells from hyperoxic injury. Rabbit TE cells grown to confluence with or ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199207000-00017
更新日期:1992-07-01 00:00:00
abstract::A rabbit model of group B Streptococcal (GBS) shock was used to determine if myocardial dysfunction contributes to GBS shock and, if so, to ascertain if prostaglandins modulate this dysfunction. The infusion of heat-killed GBS (group I) produced a dramatic decrease in the first derivative of left ventricular pressure ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198506000-00001
更新日期:1985-06-01 00:00:00
abstract:BACKGROUND:Bronchopulmonary dysplasia (BPD) is an important cause of morbidity. The aim of this study was to evaluate the preventive effect of cytidine 5'-diphosphocholine (CDP-choline) treatment on hyperoxic lung injury in a neonatal rat model. METHODS:A total of 30 newborn pups were divided into control, hyperoxia, ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.68
更新日期:2013-07-01 00:00:00
abstract::We report energy intake and selected nutrient intakes-protein, fat (total, saturated, and polyunsaturated), carbohydrate (total, starch, and sucrose), and cholesterol-for 1251 white children ages 6-19 years. The data were obtained, by means of a 24-h dietary recall, from children who were randomly selected from the No...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198302000-00009
更新日期:1983-02-01 00:00:00
abstract::We probed possible developmentally related changes in thin filament activity in rat hearts with the aid of calmidazolium (CDZ). CDZ is a calmodulin antagonist that also binds to troponin C and stimulates Ca2+ troponin C-dependent activation of cardiac myofibrillar contractile activity. In paired experiments, we compar...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199007000-00011
更新日期:1990-07-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) remains one of the primary causes of infant mortality in developed countries. Although the causes of SIDS remain largely inconclusive, some of the most informative associations implicate molecular, genetic, anatomical, physiological, and environmental (i.e., infant sleep) factors. T...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.90
更新日期:2014-09-01 00:00:00
abstract::Cerebral blood flow (CBF) measurement by near infrared spectroscopy (NIRS) using oxyhemoglobin (HbO2) as a tracer (CBF-HbO2) needs rapid changes in arterial oxygen saturation (SaO2) which often cannot be achieved in many sick infants. An alternative method based on the same adaptation of the Fick principle using i.v. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199801000-00006
更新日期:1998-01-01 00:00:00
abstract::The secreted protein sonic hedgehog (Shh) is essential for normal development of many organs. Targeted disruption of Shh in mouse leads to near complete absence of craniofacial skeletal elements at birth, and mutation of SHH in human causes holoprosencephaly (HPE), frequently associated with defects of derivatives of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000199911.17287.3e
更新日期:2006-03-01 00:00:00