Abstract:
:The dipeptides carnosine and anserine, found exclusively in meats, are hydrolyzed in serum by the enzyme carnosinase. Several reports of serum carnosinase deficiency describe a variable phenotype, which ranges from normal to severe psychomotor retardation, hypotonia, and myoclonic seizures in the first year of life. We report the case of a 30-mo-old girl with hypotonia, developmental delays, and tremor. Although consuming nominal quantities of meal, she excreted large amounts of carnosine and anserine. A strict meat-free diet ameliorated, but did not eliminate, these abnormalities. Serum carnosinase activity was found to be extremely low. Analysis of this child's chromosomes revealed a terminal deletion of chromosome 18 with breakpoint at q21.3. Neither parent exhibited this deletion, suggesting it was generated de novo in the patient or in a parental germ cell. Molecular studies showed that the patient's paternal chromosome 18 was deleted. Urinary carnosine excretion and serum carnosinase activity were normal in the patient's father. The mother had low carnosinase activity. The patient's brother exhibited moderate hypercarnosinuria and intermediate enzyme activity, consistent with the carrier state for carnosinase deficiency. Cumulatively, these findings suggest that the locus for this enzyme resides on the distal long arm of chromosome 18, and they are consistent with an unusual mechanism for the inheritance of this, typically autosomal recessive, condition. We conclude that this patient is likely hemizygous for the defect, having received the deficiency allele from her mother and, by virtue of the chromosomal deletion, no allele from her father. This represents the first report of a chromosomal abnormality in association with serum carnosinase deficiency and should aid in further localization of the gene encoding serum carnosinase.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Willi SM,Zhang Y,Hill JB,Phelan MC,Michaelis RC,Holden KRdoi
10.1203/00006450-199702000-00009subject
Has Abstractpub_date
1997-02-01 00:00:00pages
210-3issue
2eissn
0031-3998issn
1530-0447journal_volume
41pub_type
杂志文章abstract::The ciliated, mucus-secreting urn cell complex (UCC) is found swimming in the coelomic cavity of the marine invertebrate Sipunculus nudus. This cell complex, which can be maintained in suspension cultures, responds to various stimuli by hypersecreting mucus in the form of a cohesive mucus "tail." This tail can be meas...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198011000-00022
更新日期:1980-11-01 00:00:00
abstract::Responses of pial arterioles to topically applied arachidonic acid, conversion of exogenous arachidonic acid to prostanoids, and pial arteriolar dilation to hypercapnia were examined before and at progressive times after treatment with indomethacin (5 mg/kg i.v.) in chloralose-anesthetized newborn pigs with closed cra...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199306000-00016
更新日期:1993-06-01 00:00:00
abstract::Respiratory parameters of skeletal muscle were determined in permeabilized muscle fibers by adapting a technique described by Veksler et al. for cardiac fibers (Biochim Biophys Acta, 892:191-196, 1987). This method consists of the permeabilization of muscle fibers by saponin by allowing respiratory substrates and inhi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199207000-00004
更新日期:1992-07-01 00:00:00
abstract::In a review of 13 documented cases of fetal alcohol syndrome (FAS), an increased incidence of life-threatening bacterial infections as well as a propensity to minor infections was observed. Five of 13 patients had had at least one episode of pneumonia, two had meningitis, and one had sepsis. A comprehensive immunologi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198106000-00005
更新日期:1981-06-01 00:00:00
abstract::Indomethacin, because of its prostaglandin inhibition, may cause constriction of the ductus arteriosus and affect the pulmonary circulation. To study this possibility, we gave indomethacin daily by gavage to two groups of pregnant rats from the 17th day of pregnancy through delivery (group 1, 2 mg/kg/day; group 2, 4 m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198102000-00013
更新日期:1981-02-01 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is the most common systemic vasculitis syndrome primarily affecting medium-sized arteries, particularly the coronary arteries. Though KD may be associated with immunological problems, the involvement of microRNAs (miRs) has not been fully described. METHODS:We enrolled 23 KD patients a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.93
更新日期:2016-09-01 00:00:00
abstract::Inasmuch as taurine biosynthesis is decreased during early postnatal life, an efficient mechanism for taurine uptake by the liver must be present to maintain intracellular stores of this beta-amino acid. Therefore, basolateral liver plasma vesicles prepared from 14-day and adult rats were used to examine taurine trans...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198802000-00009
更新日期:1988-02-01 00:00:00
abstract::Genetic typing of serum transferrin was performed in a group of 88 extremely premature infants (gestation age less than 32 wk) and in a control group of 351 full-term infants, using isoelectric focusing technique on ultrathin layer of polyacrilamide gel. A major incidence of C2 type was found among the preterm infants...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198212000-00011
更新日期:1982-12-01 00:00:00
abstract::Zidovudine (azidothymidine, AZT) is used in pregnancy to reduce mother to infant transmission of HIV. Understanding the disposition of AZT in the fetus is necessary to optimize therapeutic regimens directed toward the fetus. Recent studies in primates found similar steady-state levels of the glucuronide metabolite of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199807000-00008
更新日期:1998-07-01 00:00:00
abstract::Plasma, amniotic fluid, and tissue concentrations of IGF-I were examined in nutritionally deprived, growth-retarded fetal rats to determine whether IGF-I concentration serves as a marker for nutritional status. Growth retardation was induced by 72 h of maternal fasting. Twenty-three control and 17 growth-retarded fetu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199108000-00006
更新日期:1991-08-01 00:00:00
abstract::Long-term EEG monitoring (LTM) with several electrodes could be a useful tool for surveillance of the brain during the first critical days of life. This study aimed to assess the feasibility of multichannel LTM for automated analysis of EEG activity from d 1 to 3 using eight electrodes. Premature infants (GA <31 wk; n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821267d2
更新日期:2011-05-01 00:00:00
abstract::Leukotrienes C4 and D4 and thromboxane A2 are potent vasoconstrictors that may mediate pulmonary vasoconstriction in many clinical situations. There is a complex interaction among leukotrienes and thromboxane A2, because inhibition of thromboxane synthesis prevents some of the hemodynamic effects of exogenous leukotri...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198908000-00001
更新日期:1989-08-01 00:00:00
abstract::The effect of hypoxia-ischemia (HI) on IL-1, and IL-6 bioactivity in relation to expression of IL-1 alpha, IL-1 beta, and IL-6 mRNA was studied, and the neuroprotective efficacy of IL-1 receptor antagonist (IL-1ra) was evaluated in neonatal rats. HI was induced in 7-d-old rats by unilateral carotid artery ligation and...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199610000-00015
更新日期:1996-10-01 00:00:00
abstract::The fibroblast of the fetal and neonatal lung is intimately involved with lung development and function. Additionally, the perinatal rat lung fibroblast is a significant source of prostaglandins (PG) I2 and E2, which in turn affect lung development and function. Their effects may be mediated by cAMP. We, therefore, te...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199204000-00008
更新日期:1992-04-01 00:00:00
abstract::Fetal lung cyclic AMP phosphodiesterase, cyclic AMP, phosphatidyl choline, and incorporation of precursors into phosphatidyl choline were measured in rabbits after maternal administration of hydrocortisone phosphate and aminophylline. Both agents inhibited lung phosphodiesterase activity and augmented cyclic AMP conce...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197606000-00011
更新日期:1976-06-01 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: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::Data are scant regarding the development of cerebrovascular autoregulation in intrauterine growth-restricted (IUGR) newborns. We tested the hypothesis that IUGR improves the ability of neonates to withstand critical periods of gradual hemorrhagic hypotension by optimizing cerebrovascular autoregulation. Studies were c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000139425.94975.77
更新日期:2004-10-01 00:00:00
abstract::This study aimed to characterize early neonatal microvascular function after preeclamptic pregnancy with respect to infant sex and in utero growth. Peripheral microvascular blood flow was examined prospectively from 6 to 72 h of age using laser Doppler flowmetry in a cohort of term infants of normotensive women and wo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318193edf1
更新日期:2009-03-01 00:00:00
abstract::Tonsillectomy and adenoidectomy (T&A) is a frequent surgical procedure in children with obstructive sleep apnea (OSA). Many symptomatic children who do not fulfill the currently recommended criteria for T&A may benefit from topical intranasal steroid therapy. However, the expression of glucocorticoid receptor (GCR) ex...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000150722.34561.E6
更新日期:2005-02-01 00:00:00
abstract::Newborn Sprague-Dawley rat pups were found to have reduced net tubular reclamation of the beta-amino acid taurine in vivo. The reabsorption of this compound increased between the 2nd and 4th week of life and the excreted taurine fell despite a rise in glomerular filtration rate indicative of increased transport with m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197907000-00012
更新日期:1979-07-01 00:00:00
abstract::The purpose of this study is to determine whether the oxidative injury markers, protein carbonyls and malondialdehyde (MDA), are elevated in tracheal aspirates from very low birth weight (< 1500 g) infants; to determine whether levels correlate with myeloperoxidase as a marker of neutrophil inflammation; and to assess...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-200005000-00014
更新日期:2000-05-01 00:00:00
abstract::Early-onset neonatal group B beta-hemolytic streptococcus (GBS) infection exhibits pathophysiologic characteristics of a toxic shock syndrome, in which a cascade of inflammatory mediators are involved. Thromboxane A2 (TXA2) is thought to play an important role as a mediator of the pulmonary response to GBS toxin, beca...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, an...
journal_title:Pediatric research
pub_type: 杂志文章,多中心研究
doi:10.1203/PDR.0b013e3181841eca
更新日期:2008-11-01 00:00:00
abstract::A method is developed for the detection of homozygotes and heterozygote carriers of Niemann-Pick disease type A by employing a high performance liquid chromatography (HPLC) technique for the measurement of sphingomyelin (SP) as well as for the assay of the enzyme sphingomyelinase (SPase) in skin fibroblasts and amniot...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197805000-00008
更新日期:1978-05-01 00:00:00
abstract::Hirschsprung's disease, affecting one in 5000 live newborns, is the most common cause of neonatal intestinal obstruction. The obstruction or, later in life, constipation arises from the lack of enteric ganglia in the hindgut, thus resulting in poor coordination of peristalsis. Mutations in Hirschsprung patients have s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199905010-00018
更新日期:1999-05-01 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::Serial plasma concentrations of immunoreactive 6-keto-prostaglandin F1 alpha (6-keto-PGF1 alpha), the stable hydration product of prostacyclin (PGI2), were measured with radioimmunoassay during the first month of life in 25 preterm infants with idiopathic respiratory distress syndrome (IRDS) and 38 preterm controls wi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198210000-00005
更新日期:1982-10-01 00:00:00
abstract:BACKGROUND:Staphylococcus aureus is the leading cause of skin and soft tissue infections (SSTIs). To develop interventions to prevent recurrent infections, household attributes and individual practices influencing S. aureus colonization must be discerned. METHODS:Households of healthy children with methicillin-resista...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0113-x
更新日期:2018-11-01 00:00:00
abstract::Five patients with Bartter's syndrome were investigated. Sodium restriction (less than 10 mEq/day for at least 5 days) showed a renal sodium wastage in only two patients (I and II) in spite of increased aldosterone secretion rate (from 151-427 to 680-842 mug/day). The effect of angiotensin II (A II) 80ng/kg/min for 30...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197612000-00005
更新日期:1976-12-01 00:00:00