Abstract:
BACKGROUND:The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS:Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing. Therapy was stratified in three different protocols. Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were genotyped and their association with clinical and biochemcial data was analyzed. RESULTS:Therapy response was similar in terms of radiological healing although it was not so in terms of biochemical normalization. Only VDR gene (promoter, start-codon, and intronic genotypes) was rickets-associated in terms of serum 25-OH-D, calcium, radiological severity and time needed to heal. Eight patients with sufficient calcium intake and 25-OH-D levels carried a VDR genotype lacking minor allele homozygous genotypes at SNPs spread along the gene. CONCLUSION:Although patients presented epidemiologic factors strongly contributing to rickets, genetic modulation affecting predisposition, severity, and clinical course is exerted, at least in part, by VDR gene polymorphic variation.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
El Kholy M,Elsedfy H,Fernández-Cancio M,Hamza RT,Amr NH,Ahmed AY,Toaima NN,Audí Ldoi
10.1038/pr.2016.222subject
Has Abstractpub_date
2017-02-01 00:00:00pages
356-363issue
2eissn
0031-3998issn
1530-0447pii
pr2016222journal_volume
81pub_type
杂志文章abstract::Plasma antioxidant status and total radical-trapping antioxidant potential (TRAP) of children (n = 24) with cystic fibrosis (CF) were compared with those of children (n = 21) without the disease. Children with CF were found to have elevated plasma concentrations of ascorbic acid (94.6 +/- 58.2 mumol/L), with respect t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199303000-00008
更新日期:1993-03-01 00:00:00
abstract::The placenta is essential to nutrition before birth. Recent work has shown that a range of clearly defined alterations can be found in the placentas of infants with intrauterine growth restriction (IUGR). In the mouse, a placental specific knockout of a single imprinted gene, encoding IGF-2, results in one pattern of ...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/01.PDR.0000181381.82856.23
更新日期:2005-11-01 00:00:00
abstract::We examined adult sheep lymphocytes for the following surface markers: Surface membrane immunoglobulin, antigen identified by anti-sheep thymocyte globulin and complement receptors. We quantitated sheep peripheral blood mononuclear leukocyte proliferative responses to mitogens and alloantigens, and demonstrated a neut...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198405000-00012
更新日期:1984-05-01 00:00:00
abstract:BACKGROUND:Postnatal growth restriction (PNGR) in premature infants increases risk of pulmonary hypertension (PH). In a rodent model, PNGR causes PH, while combining PNGR and hyperoxia increases PH severity. We hypothesized that PNGR causes intestinal dysbiosis and that treatment with a probiotic attenuates PNGR-associ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0578-2
更新日期:2020-02-01 00:00:00
abstract::Mucolipidosis 4 (ML4) is an autosomal recessive disorder with both lipid and mucopolysaccharide storage. The disease is characterized by severe visual impairment and psychomotor retardation. In our effort to find a phenotypic marker for ML4 fibroblasts, living cells were stained with fluorescent compounds. The stainin...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199506000-00003
更新日期:1995-06-01 00:00:00
abstract::To clarify the prevalence of Japanese children thought to be at a risk for infection with GB virus-C (GBV-C)/hepatitis G virus (HGV), we investigated the detection rates of serum GBV-C/ HGV ribonucleic acid (RNA) by reverse transcription-seminested PCR and serum anti-HGV-E2 antibody by ELISA in 162 children with histo...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199901000-00021
更新日期:1999-01-01 00:00:00
abstract::The objective was to determine in infants with perinatal depression whether the relative concentrations of N-acetylaspartate and lactate in the neonatal period are associated with (1) neurodevelopmental outcome at 30 mo of age or (2) deterioration in outcome from age 12 to 30 mo; and to determine whether socioeconomic...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200207000-00014
更新日期:2002-07-01 00:00:00
abstract::One of two slightly different influenza A/ts-1[E] recombinant candidate live vaccines was given intranasally to each of 23 young children. Twelve of 15 children who had no serum HI antibody but who did have serum ANAB at the time of administration became infected and 1 had mild rhinitis. All eight who lacked both type...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197604000-00008
更新日期:1976-04-01 00:00:00
abstract::In blood vessels with diameters less than 500 microns, both the hematocrit and viscosity decrease with decreasing tube diameter [Fåhraeus effect (FE) and Fåhraeus-Lindqvist effect (FLE)]. Because both effects may be influenced by red blood cell (RBC) volume and osmolality, the effects of RBC type and suspending medium...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199310000-00031
更新日期:1993-10-01 00:00:00
abstract::BackgroundBeing aware of the impact of low birth weight on late-onset hypertension, our aim was to describe systolic blood pressure (sBP) and renal function in 3-5-year-old preterm-born children and to determine which perinatal factors or childhood factors were associated with an altered renal function at 5 years in t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.148
更新日期:2017-12-01 00:00:00
abstract::The effects of passive respiratory syncytial virus (RSV) immune serum given as preinoculation prophylaxis, postinoculation prophylaxis, and as therapy on d 5 after inoculation were evaluated in an illness model of RSV infection in BALB/c mice. Pre- and postinoculation prophylaxis reduced RSV replication in lung after ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199308000-00013
更新日期:1993-08-01 00:00:00
abstract::Developmental differences in myocardial performance are known to exist. It is likely that the profile of protein isoforms present on the developing thin filament contributes to these observed differences. We have prepared thin filaments from developing and mature rat hearts by using an immunoprecipitation procedure de...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199109000-00006
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:Cardiovascular (CV) complications are the most significant cause of mortality in adults with Cushing disease (CD); little is known about CV risk factors in children with CD. Measurement of lipoprotein particles by nuclear magnetic resonance (NMR) spectroscopy is a novel technology to assess CV risk. The obje...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0438-0
更新日期:2019-09-01 00:00:00
abstract::Antigenic analysis of neuroblastoma cells was performed by autologous typing and indirect immunofluorescent test combined with absorption tests. Serum of a patient with neuroblastoma before treatment showed weak reactivity with cultured autologous neuroblastoma cells, while serum obtained from the same patient 3 month...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00001
更新日期:1986-10-01 00:00:00
abstract::Neonatal susceptibility to overwhelming bacterial infection is commonly attributed to a relative deficiency in serum opsonic activity. However, few studies have compared the functional capacity of the classical complement pathway with that of the alternative complement pathway in the neonate. The opsonic activity of n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197912000-00008
更新日期:1979-12-01 00:00:00
abstract::We measured body composition, basal metabolic rate (BMR), and total energy expenditure in 28 nonobese and 35 obese adolescents aged 12-18 y using indirect calorimetry and the doubly labeled water method. BMR was highly correlated with fat-free mass in both the nonobese and obese groups (r = 0.77 and 0.84, respectively...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199002000-00022
更新日期:1990-02-01 00:00:00
abstract::Defective arousal mechanisms are viewed as contributory to sleep hypopnea disorders and sudden infant death syndrome. Sighs (i.e. augmented breaths) as well as startles have not traditionally been viewed as arousal-related phenomena in infants. We hypothesized that, if sighs and startles are the initial event in a seq...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199811000-00021
更新日期:1998-11-01 00:00:00
abstract:BACKGROUND:The rate of accrual of muscle mass in neonates has not been assessed. We describe the D3-creatine (D3Cr) dilution method, a noninvasive assessment of muscle mass in neonates. METHODS:A total of 76 neonates >26-week-old corrected gestational age were enrolled and measured at 2-week intervals while admitted t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01122-w
更新日期:2020-09-12 00:00:00
abstract::High speed cinemicrographs reveal that the ciliary configuration and beat pattern of rabbit tracheal cilia differ significantly from classid descriptions, although the basic forward and return pattern is still observed. The tracheal cilia are short and stout (about 6 mum in length) and are of a slightly bent original ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197602000-00014
更新日期:1976-02-01 00:00:00
abstract::Oxidant stress has been implicated as playing a role in the pathogenesis of cholestatic liver injury. The objective of this study was to determine whether the xanthine oxidase/xanthine dehydrogenase enzyme system was involved in this oxidant stress. Adult Sprague-Dawley rats were treated with the xanthine oxidase inhi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199809000-00022
更新日期:1998-09-01 00:00:00
abstract::Genetic factors are implicated in pathogenesis of neonatal hyperbilirubinemia. In this nested case-control study, we determined 1) frequency of thymine-adenine (TA)n promoter polymorphism and Gly71Arg mutation in uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene in neonates > or =35-wk gestation p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31819ed5de
更新日期:2009-06-01 00:00:00
abstract::Hypercholesterolemia is common in preterm infants administered 10% Intralipid perhaps because of excess phospholipid in plasma causing efflux of cholesterol from tissues. The purpose of this study was to determine if cholesterol synthesis (as measured by plasma lathosterol) is increased in preterm infants (23-32 wk ge...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199202000-00020
更新日期:1992-02-01 00:00:00
abstract::The objective of this study was to establish longitudinal normative limits for home memory monitors during early infancy. Eighty-eight healthy infants were monitored overnight at 0.25-19 wk of age using the Healthdyne Smart Monitor. Apnea settings were 14 s for recording and 40 s for alarm; the bradycardia setting was...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199602000-00005
更新日期:1996-02-01 00:00:00
abstract::Circadian rhythms of plasma renin activity (PRA) and plasma aldosterone (PA) were studied in eight healthy children, 7 to 15 years old. Blood samples were obtained at 7:00 AM, 10:00 AM, 1:00 PM, 4:00 PM, 5:00 PM, 8.00 PM, and midnight on day 1 and 4:00 AM and 7:00 AM on day 2. Children had normal activity during this ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198205000-00007
更新日期:1982-05-01 00:00:00
abstract::The transport of phosphate into jejunal brush border membrane vesicles isolated from 14- to 42-day-old rats was investigated using a rapid filtration technique. The presence of a sodium gradient enhanced phosphate uptake at all ages. Both sodium-dependent phosphate uptake and passive phosphate uptake declined with inc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198512000-00021
更新日期:1985-12-01 00:00:00
abstract::It is customary to estimate the uteroplacental function in singletons by defining appropriateness of birth weight by gestational age. Such a measure, however, is not available for the entire multiple pregnancy set. We evaluate a new index, total triplet birth weight, expressed as multiples of the median (MOM) birth we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000202757.47761.76
更新日期:2006-04-01 00:00:00
abstract::Children treated for acute lymphoblastic leukemia may develop reduced bone mineral density during treatment, but there is little information on the mechanisms involved. In a prospective, longitudinal study on 15 children with ALL, we undertook serial measurements of markers of bone and collagen turnover, insulin-like ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200010000-00012
更新日期:2000-10-01 00:00:00
abstract::Aspiration is a major cause of lung disease in infants and young children. As the symptoms and signs of aspiration are not specific, the diagnosis is delayed due to a low index of suspicion and low sensitivity and specificity of the available diagnostic tests. In the present study, we evaluated the utility of microsph...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000176910.62067.a0
更新日期:2005-09-01 00:00:00
abstract::We investigated, using a human placental choriocarcinoma cell line as a model, the effects of the immunosuppressive drug cyclosporin A on several placental transport systems mediating the transfer of glucose and amino acids from mother to fetus. The results of the investigation show that the transport system responsib...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199207000-00024
更新日期:1992-07-01 00:00:00
abstract::Fetal intrauterine growth retardation was induced in nine rats at 17 days' gestation by ligating the blood supply to one of the uterine horn. The 27 festuses from the uterine vessel ligated side were the intrauterine growth retarded fetuses (IUGR) and the 37 fetuses from the nonligated side were controls. The mean wei...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197608000-00008
更新日期:1976-08-01 00:00:00