Abstract:
:Momentum around the era of genomic medicine is building, and with it, anticipation of the benefits that whole genome analysis (personalized or individualized genomics) will bring for the provision of health care. These technologies have the potential to revolutionize genetic diagnosis; however, the expansive data generated can lead to complex or unexpected findings, sometimes complicating clinical utility and patient benefit. Here, we use our experience with whole genome scanning microarrays, an early instance of whole genome analysis already in clinical use, to highlight fundamental challenges raised by these technologies and to discuss their medical, ethical, legal and social implications. We discuss issues that physicians and healthcare professionals will face, in particular, as the resolution of testing further increases toward full genome sequence determination. We emphasize that addressing these issues now, and starting to evolve our healthcare systems in response, will be pivotal in avoiding harms and realizing the promise of these new technologies.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Ali-Khan SE,Daar AS,Shuman C,Ray PN,Scherer SWdoi
10.1203/PDR.0b013e3181b0cbd8subject
Has Abstractpub_date
2009-10-01 00:00:00pages
357-63issue
4eissn
0031-3998issn
1530-0447journal_volume
66pub_type
杂志文章,评审abstract::The use of nebulized racemic epinephrine to improve ventilatory function in the newborn postextubation was studied. Forty-five infants intubated for more than 3 days were randomized to receive racemic epinephrine by nebulization immediately postextubation or to receive only warmed, humidified gas. Measurements of air ...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-198704000-00012
更新日期:1987-04-01 00:00:00
abstract::Myocardial oxygen demand may be increased in chronically hypoxemic lambs because of their increased heart rate. Therefore, we determined whether left ventricular (LV) oxygen supply, oxygen uptake and oxygen demand were proportionally increased in 6-wk-old lambs, after 4 wk of hypoxemia (n = 15), as compared with contr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199310000-00017
更新日期:1993-10-01 00:00:00
abstract::We used in vivo microdialysis to determine the impact of a focal hypoxic-ischemic insult on hippocampal amino acid efflux in the immature brain. Microdialysis probes were inserted into the right hippocampus of postnatal d 7 rats. To induce hypoxic-ischemic injury, the right carotid artery was ligated and animals were ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199112000-00021
更新日期:1991-12-01 00:00:00
abstract::Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by diabetes, retinal degeneration, and neurologic symptoms. Affected patients evidence marked parenchymal iron accumulation in conjunction with an absence of circulating serum ceruloplasmin and molecular genetic analysis reveals inh...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-199809000-00001
更新日期:1998-09-01 00:00:00
abstract::The precise mechanism by which the most common cause of bacterial enterocolitis in humans, Campylobacter jejuni, perturbs the intestinal mucosa remains elusive. To define effects of C. jejuni infection on mucosal permeability, Madin-Darby canine kidney (MDCK)-I and T84 cell monolayers were infected with C. jejuni for ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31818702b9
更新日期:2008-12-01 00:00:00
abstract::Whether severe hypoglycemia alone or in combination with hyperketonemia might cause deterioration of cardiac function has been controversial. Therefore, the influence of acute hypoglycemia (mean 33 mg/dL) with and without hyperketonemia (mean 1.3 and 3.3 mM) on cardiac function, substrate utilization, and myocardial h...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198912000-00002
更新日期:1989-12-01 00:00:00
abstract:BACKGROUND:Genome-wide association studies have identified rs314276, rs314263, rs7759938, and rs314280 in or near the LIN28B gene as associated with age at menarche. To date, the effect of polymorphisms in this gene on idiopathic central precocious puberty (ICPP) in Chinese girls have not been reported. The aim of this...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.107
更新日期:2016-10-01 00:00:00
abstract::To determine the influence of an altered carotid body function on the laryngeal chemoreflex (LCR) response, reflex apnea was induced by laryngeal water stimulation during normoxia or acute hypoxia in unanesthetized awake lambs in which the ventilatory response to acute hypoxia was attenuated by prolonged postnatal hyp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199312000-00024
更新日期:1993-12-01 00:00:00
abstract::Human Bifidobacterium sp strain bifidum (B. bifidum) was administered to BALB/c lactating mice (n = 58) and their litters (n = 327 pups) to evaluate the ingested strain's adherent properties and ability to inhibit murine rotavirus (MRV) infection. ELISA and anaerobic bacteriologic techniques were used to measure MRV s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199406000-00014
更新日期:1994-06-01 00:00:00
abstract::Exercise-induced arterial hypoxemia (EIAH) is a recognized phenomenon in highly trained adults. Like adult athletes, prepubescent trained children may develop high-level metabolic demand but with a limited lung capacity in comparison with adults. The purpose of this investigation was to search for evidence of EIAH in ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000114481.58902.FB
更新日期:2004-04-01 00:00:00
abstract::The incidence and prevalence of celiac disease vary internationally. We studied the incidence of identified cases of childhood celiac disease in six Dutch provinces that cover 47.9% of the surface area and 67.6% of the total population of The Netherlands. Children with celiac disease aged 0-14 y, diagnosed from Januar...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199502000-00015
更新日期:1995-02-01 00:00:00
abstract::BackgroundPoor aerobic fitness is associated with worsening of asthma symptoms, and fitness training may improve asthma control. The mechanism linking fitness with asthma is not known. We hypothesized that repeated bouts of exercise would lead to a downregulation of glucocorticoid receptor (GR) expression on circulati...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.66
更新日期:2017-08-01 00:00:00
abstract::Studies were conducted in an attempt to determine the hemolytic potential of acetylsalicylic acid (ASA) on normal intact red blood cells (RBCs). ASA (25 mg/100 ml) did not impair RBC G-6-PD, glutathione peroxidase or catalase activity, glutathione stability, or hexose monophosphate shunt activity. Hemolysis was not ob...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197809000-00009
更新日期:1978-09-01 00:00:00
abstract:BACKGROUND:Oral propranolol, a nonselective β-blocker, is able to reduce the progression of retinopathy of prematurity in newborns, but it appeared unsafe. This study aimed to find, in rabbits, a propranolol eye drop concentration able to induce lower plasma but higher retinal concentrations than those obtained after o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.108
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Sepsis is an important cause of neonatal morbidity and mortality worldwide. Diagnosis and treatment of neonatal sepsis relies on clinical judgment and interpretation of nonspecific laboratory tests. In a prospective cohort, we measured inflammatory cytokines as a potential biomarker for neonatal sepsis. MET...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.267
更新日期:2017-04-01 00:00:00
abstract::Premature newborns are highly susceptible to severe bacterial infections. This is partially due to their immature innate immune system, characterized by decreased neutrophil and monocyte activity as well as by reduced concentrations of complement factors. However, additional mechanisms might be important for innate im...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000163397.53466.0F
更新日期:2005-07-01 00:00:00
abstract::Kawasaki disease, which is characterized by systemic vasculitis causing coronary arterial involvement in childhood, shows a variety of immunoregulatory abnormalities. Especially the direct or indirect deleterious effects on endothelial cells of cytokines and anti-endothelial cell antibodies (AECA) are considered to be...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199510000-00005
更新日期:1995-10-01 00:00:00
abstract::In spontaneously breathing newborn lambs, alveolar hypoxia increases lung microvascular pressure, which causes lung lymph flow to increase and the concentration of protein in lymph to decrease. To see if this response derives from hypoxia itself rather than from the change in breathing pattern that occurs during hypox...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198405000-00009
更新日期:1984-05-01 00:00:00
abstract::Evidence is increasing for a role of polymorphisms in maternal or fetal innate immune response genes in preterm birth. Toll-like receptors (TLRs) are important receptors in the innate immunity. The genotype distribution of two TLR2 single nucleotide polymorphisms (SNPs) and one TLR4 SNP were determined among 524 neona...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31813c9401
更新日期:2007-10-01 00:00:00
abstract::We recently demonstrated that recombinant hGH exacerbates renal functional and structural injury in chronic puromycin aminonucleoside (PAN) nephropathy, an experimental model of glomerular disease. Therefore, we examined whether recombinant human (rh) IGF-I is a safer alternative for the treatment of growth failure in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199601000-00002
更新日期:1996-01-01 00:00:00
abstract::The specific activities of four folate enzymes have been measured in livers from preterm infants (Group 1), full-term infants (Group 2), and from control subjects (Group 3). The four enzymes studied were methylene tetrahydrofolate reductase (EC 1.1.1.68), methionine synthetase (EC 2.1.1.13), methylenetetrahydrofolate ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198208000-00008
更新日期:1982-08-01 00:00:00
abstract::Shigellosis in children can cause growth retardation, worsening of malnutrition, and hypoproteinemia. To assess the effects of ingestion of a protein-rich diet during convalescence, 22 children aged 2 to 4 y with culture-proven shigellosis were randomly assigned after 5 d of antibiotic treatment to 21-d feeding regime...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199212000-00014
更新日期:1992-12-01 00:00:00
abstract::Chronic disease risk is inextricably linked to our early-life environment, where maternal, fetal, and childhood factors predict disease risk later in life. Currently, maternal obesity is a key predictor of childhood obesity and metabolic complications in adulthood. Although the mechanisms are unclear, new and emerging...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.169
更新日期:2015-01-01 00:00:00
abstract::Topical emollient therapy may reduce the incidence of serious infections and mortality of preterm infants in developing countries. We tested whether emollient therapy reduced the burden of pathogens on skin and/or prevented bacterial translocation. Neonates <33 wk gestational age were randomized to treatment with sunf...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/pdr.0b013e3180459f75
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:The genetic basis of dysfunctional immune responses in necrotizing enterocolitis (NEC) remains unknown. We hypothesized that variants in nucleotide binding and oligomerization domain (NOD)-like receptors (NLRs) and autophagy (ATG) genes modulate vulnerability to NEC. METHODS:We genotyped a multi-center coho...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.260
更新日期:2017-04-01 00:00:00
abstract::To study cardiovascular autonomic control, we assessed the effect of atropine on heart rate (HR) and blood pressure (BP) variability in 12 preterm infants (range 26-32 wk) before intubation for respiratory insufficiency. Spectral power analysis of R-R interval and systolic BP (SBP) series were estimated in a low-frequ...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/01.PDR.0000145257.75072.BB
更新日期:2004-12-01 00:00:00
abstract::The ontogenetic renal responsiveness to exogenous cortisol was examined in the chronically cannulated ovine fetus. The contribution of effects at proximal and distal tubule of the kidney were studied also. Cortisol (81.5 micrograms/h) was infused into immature ovine fetuses (mean gestational age -113.9 days) on five o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198907000-00002
更新日期:1989-07-01 00:00:00
abstract:BACKGROUND:Bradycardia and oxygen desaturation episodes are common among preterm very low birth weight (VLBW) infants in the Neonatal Intensive Care Unit (NICU), and their association with adverse outcomes such as bronchopulmonary dysplasia (BPD) is unclear. METHODS:For 502 VLBW infants we quantified bradycardias (HR ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0223-5
更新日期:2019-06-01 00:00:00
abstract::The purpose of the present study was to determine if autoregulation of cerebral blood flow (CBF) is present in the preterm fetal lamb and, if present, to measure the range of mean arterial blood pressure over which autoregulation exists. Thirty-seven measurements of CBF were made in seven preterm fetal lambs (118-122 ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198502000-00001
更新日期:1985-02-01 00:00:00
abstract:INTRODUCTION:The Coulter LH780 hematology analyzer can evaluate mean neutrophil volume (MNV), conductivity (MNC), scatter (MNS), and distribution width (DW). We sought to investigate the value of volume, conductivity, and scatter (VCS) parameters in diagnosis and treatment efficacy of neonatal sepsis. RESULTS:We obser...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.16
更新日期:2012-01-01 00:00:00