Abstract:
:A son of related Turkish parents had grossly elevated serum tyrosine concentration and excreted tyrosine and p-hydroxyphenolic acids into the urine, whereas neither succinylacetone nor succinylacetoacetate could be demonstrated. The tyrosine concentration was normalized by a proper diet. This was not followed strictly at home. During the first 2 years of life, the patient had severe undulating nystagmus that disappeared later. No skin lesions were present and there was only slight corneal clouding of the eyes. At the age of 5, the patient had attained the maturity of a 4-year-old, showing a balanced profile. Specific tyrosine aminotransferase (EC 2.6.1.5) was present in the liver; the Km value for tyrosine was normal. However, the total activity was less than 10% of normal, a situation similar to that observed in fetal human liver. A younger sister of the patient also has tyrosinemia and low hepatic tyrosine aminotransferase activity.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Andersson S,Nemeth A,Ohisalo J,Strandvik Bdoi
10.1203/00006450-198407000-00023subject
Has Abstractpub_date
1984-07-01 00:00:00pages
675-8issue
7eissn
0031-3998issn
1530-0447journal_volume
18pub_type
杂志文章abstract::Human autoimmune lymphoproliferative syndrome (ALPS) is caused by defective CD95-mediated apoptosis of lymphocytes. In most patients, heterozygous mutations within the CD95 gene are found. Mutated proteins interfere with CD95-signaling in a dominant-negative way. However, the penetrance of clinical disease is variable...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318191f7e4
更新日期:2009-02-01 00:00:00
abstract::Spontaneous preterm birth is a serious and common pregnancy complication associated with hormonal dysregulation, infection, inflammation, immunity, rupture of fetal membranes, stress, bleeding, and uterine distention. Heredity is 25-40% and mostly involves the maternal genome, with contribution of the fetal genome. Si...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-018-0180-z
更新日期:2019-03-01 00:00:00
abstract:BACKGROUND:Aberrant immune responses play a key role in the pathogenesis of inflammatory bowel disease (IBD). Most studies conducted to delineate the underlying molecular mechanisms focus on adults; an understanding of these mechanisms in children remains to be determined. Here, cytokines and transcription factors prod...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0486-5
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Maternal thyroid deficiency can increase Rho-kinase procontractile influence in arteries of 2-week-old progeny. Here we hypothesized that augmented role of Rho-kinase persists in arteries from adult progeny of hypothyroid rats. METHODS:Dams were treated with 6-propyl-2-thiouracil (PTU) in drinking water (0....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0029-5
更新日期:2018-07-01 00:00:00
abstract::The fetal inflammatory response has been suggested as causal in neonatal morbidity. Serial levels of circulating cytokines were evaluated in 74 infants with a mean gestational age (GA) of 27.1 wk. Pro-inflammatory [tumor necrosis factor-alpha (TNF-alpha), interferon-gamma (IFN-gamma), IL-1 beta, IL-2, IL-6, IL-8, IL-1...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000182592.76702.E8
更新日期:2005-11-01 00:00:00
abstract::The purpose of this study was to assess differences in sound spectra of crying of term newborns in relation to different pain levels. Fifty-seven consecutively born neonates were evaluated during heel-prick performed with different analgesic techniques. Crying was recorded and frequency spectrograms analyzed. A pain s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000099793.99608.CB
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Bronchopulmonary dysplasia (BPD) is the most common and serious chronic lung disease of premature infants. Connective tissue growth factor (CTGF) plays an important role in tissue development and remodeling. We have previously shown that targeted overexpression of CTGF in alveolar type II epithelial cells re...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.52
更新日期:2016-07-01 00:00:00
abstract::To examine the mechanisms of autoregulatory impairment in meningitis, we studied the effects of Haemophilus influenzae type b (Hib) on pial vessels during hemorrhagic hypotension in rats, using a cranial window technique. We prepared cranial windows in barbiturate-anesthetized, mechanically ventilated rats. Artificial...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199301000-00010
更新日期:1993-01-01 00:00:00
abstract::In neuronal cultures from the forebrain of 14-d-old rat embryos, transient hypoxia (95% N2/5% CO2, 37 degrees C) for 6 h has been shown to trigger delayed apoptotic death through sequential changes in protein synthesis, whereas preconditioning by a brief episode of hypoxia can rescue neurons. Because hypothermia has b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200003000-00017
更新日期:2000-03-01 00:00:00
abstract:INTRODUCTION:Data regarding neonatal arterial ischemic stroke (NAIS) topography are still sparse and inaccurate. Despite the importance of locating NAIS to predict the long-term outcome of neonates, a map of arterial territories is not yet available. Our aim was therefore to generate the first three-dimensional map of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0724-x
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Kawasaki disease was well known for coronary artery abnormalities with few reports of incidence of acute kidney injury (AKI). Our aim was to identify the rate of AKI in patients with Kawasaki disease and its associated factors. METHODS:All patients with Kawasaki disease admitted to a medical center from Feb...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.81
更新日期:2016-08-01 00:00:00
abstract:BACKGROUND:Continuous and intermittent bolus orogastric feedings are strategies used in infants unable to tolerate normal feeds. METHODS:To determine the effects of feeding modality on protein synthesis in different tissues, neonatal pigs received a balanced formula by orogastric tube as an intermittent bolus feed eve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.89
更新日期:2013-08-01 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::This study examined the relationships between cerebral fractional oxygen extraction (FOE), mean arterial blood pressure (MABP), left ventricular output (LVO), blood gases, and other physiologic variables in 36 very-low-birth-weight preterm infants during the first 3 d after birth. There was a decrease in cerebral FOE ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000111288.87002.3A
更新日期:2004-03-01 00:00:00
abstract::Localized proton magnetic resonance spectra were recorded from human cerebellum in vivo with a 1.5-T magnet. The spectra from healthy adults and preterm and term babies showed resonances from N-acetylaspartate, creatine and phosphocreatine, choline-containing compounds such as phosphocholine and glycerophosphocholine,...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199112000-00017
更新日期:1991-12-01 00:00:00
abstract::In muscle, sepsis reduces protein synthesis (MPS) by restraining translation in neonates and adults. Even though protein accretion decreases with development as neonatal MPS rapidly declines by maturation, the changes imposed by development on the sepsis-associated decrease in MPS have not been described. Pigs at 7 an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3182176da1
更新日期:2011-06-01 00:00:00
abstract::Infants fed soy-based infant formulas are exposed to high levels of genistein, an isoflavone, with potential estrogen-like activity. This study determined whether neonatal exposure of mice to genistein resulted in higher bone mineral density (BMD) and greater resistance to fracture at adulthood. Male and female CD-1 m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000250200.94611.03
更新日期:2007-01-01 00:00:00
abstract::Mesenchymal stem cell (MSC) transplantation represents the next breakthrough in the treatment of currently intractable and devastating neonatal disorders with complex multifactorial etiologies, including bronchopulmonary dysplasia, hypoxic ischemic encephalopathy, and intraventricular hemorrhage. Absent engraftment an...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.249
更新日期:2018-01-01 00:00:00
abstract::Studies have shown that human neonates who develop group B streptococcal sepsis usually lack opsonic antibody (Ab) to their infecting strain and that these neonates may also have impaired polymorphonuclear leukocyte (PMN) function. The present study was designed to determine the efficacy of administration of PMNs or o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198012000-00031
更新日期:1980-12-01 00:00:00
abstract:BACKGROUND:Though prenatal antidepressant exposure has been associated with adverse developmental outcomes, the extent to which the effects are due to prenatal drug exposure or underlying maternal mood disturbances is unclear. METHODS:This was a population-based retrospective cohort study using administrative data fro...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01269-6
更新日期:2020-12-09 00:00:00
abstract::Neutrophils contribute to ischemic brain injury in adult animals. The role of neutrophils in perinatal hypoxic-ischemic (HI) brain injury is unknown. Allopurinol reduces neutrophil accumulation after tissue ischemia and is protective against HI brain injury. This study was designed to investigate how neutrophils contr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199705000-00002
更新日期:1997-05-01 00:00:00
abstract::Respiratory distress syndrome (RDS) due to surfactant deficiency is the most common cause of respiratory failure in preterm infants. Tremendous progress has been made since the original description that surfactant deficiency is the major cause of RDS. Surfactant therapy has been extensively studied in preterm infants ...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
doi:10.1038/pr.2016.203
更新日期:2017-01-01 00:00:00
abstract::Newborn piglets exposed to acute hypoxia-ischemia (HI) received i.v. cannabidiol (HI + CBD) or vehicle (HI + VEH). In HI + VEH, 72 h post-HI brain activity as assessed by amplitude-integrated EEG (aEEG) had only recovered to 42 ± 9% of baseline, near-infrared spectroscopy (NIRS) parameters remained lower than normal, ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3182276b11
更新日期:2011-09-01 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::EBV has been associated with several malignancies in humans. EBV can also infect marmoset B lymphocytes, which, as opposed to human B cells, are permissive for lytic Epstein-Barr viral replication. Mice with a severe combined immunodeficiency phenotype (SCID mice) are extremely susceptible to EBV-induced lymphomagenes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199410000-00007
更新日期:1994-10-01 00:00:00
abstract:BACKGROUND:The present study examined the association between 9/11-related adolescent behavioral problems on mental health outcomes in early adulthood. METHODS:Data from enrollees of the World Trade Center Health Registry, who completed at least one adolescent (2006-2007 or 2011-2012) and adult survey (2011-2012 or 20...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0050-8
更新日期:2018-08-01 00:00:00
abstract::Essential fatty acid deficiency (EFAD) occurs in infants fed fat-free mixtures of glucose and amino acids. Although infusion of lipid emulsion rapidly reverses clinical symptoms, little is known about effects on tissue fatty acids. To study this question, five groups (n = 4/group) of neonatal pigs were studied. Three ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198412000-00027
更新日期:1984-12-01 00:00:00
abstract::A substantial proportion of the "apparently normal" preterm infants exhibit minor and moderate dysfunctions in neuromotor outcome as they grow older. Birth characteristics, minor abnormalities on the neonatal ultrasound scan of the brain, and motor milestones have only limited value in the early detection of these chi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000170898.60160.09
更新日期:2005-08-01 00:00:00
abstract::Acute kidney injury (AKI) is common in premature infants and is associated with poor outcomes. Novel biomarkers can detect AKI promptly. Because premature infants are born with underdeveloped kidneys, baseline biomarker values may differ. We describe baseline values of urinary neutrophil gelatinase-associated lipocali...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3182275164
更新日期:2011-09-01 00:00:00
abstract::Long-term parenteral nutrition (TPN) in children is associated with sustained hyperinsulinemia due to a high nutriment infusion flow 12 h/24 h, with plausible lipotoxicity secondary to repeated lipid infusions and with changes in incretin hormone release. The aim of this study was to test whether long-term TPN can lea...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/PDR.0b013e3181559d5c
更新日期:2007-11-01 00:00:00