Abstract:
:This study characterizes cardiorespiratory dysregulation in young girls with MECP2 mutation-confirmed Rett syndrome (RS). Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched controls (ages 2-7 y). An in-home breath-to-breath and beat-to-beat characterization was conducted and revealed that breathing was more irregular, with an increased breathing frequency, mean airflow, and heart rate in RS versus controls. There was a decreased correlation between normal breathing and heart rate variability, and an exaggerated increase in heart rate response to breathholds in RS versus controls. We conclude that girls with RS have cardiorespiratory dysregulation during breathholds as well as during "normal" breaths and during breaths before and subsequent to breathholds. This dysregulation may offer insight into the mechanisms that render girls with RS more vulnerable to sudden death.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Weese-Mayer DE,Lieske SP,Boothby CM,Kenny AS,Bennett HL,Silvestri JM,Ramirez JMdoi
10.1203/01.pdr.0000238302.84552.d0subject
Has Abstractpub_date
2006-10-01 00:00:00pages
443-9issue
4eissn
0031-3998issn
1530-0447pii
01.pdr.0000238302.84552.d0journal_volume
60pub_type
杂志文章abstract::BackroundMicrocephaly can either be isolated or it may coexist with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. T...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.65
更新日期:2017-08-01 00:00:00
abstract::To localize fetal rabbit lung beta-adrenoreceptors before and after glucocorticoid treatment, light microscopic autoradiography was performed with the reversible radiolabeled beta-adrenergic antagonist, [3H]dihydroalprenolol, on day 26 of gestation. Autoradiograms of adult lung and fetal myocardium were also prepared....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198411000-00028
更新日期:1984-11-01 00:00:00
abstract::Premature newborn rabbits, delivered by hysterotomy on day 27 of gestation, were tracheotomized at birth, kept in body plethysmographs, and subjected to pressure-generated ventilation at a working pressure of 25 cm H2O, 100% O2, and frequency 40/min. Thirty-seven animals received 50 microliters of heterologous surfact...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198211000-00004
更新日期:1982-11-01 00:00:00
abstract::We have previously discovered that the adult Drosophila melanogaster is tolerant to a low O2 environment, withstanding hours of total O2 deprivation without showing any evidence of cell injury. Subsequently, our laboratory embarked on the study of hypoxia tolerance using a mutagenesis and overexpression screens to beg...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e3181b27275
更新日期:2009-09-01 00:00:00
abstract::Fetuin-A prevents tissue calcification by forming soluble complexes with calcium and phosphate. A pathological depletion of serum fetuin-A has been observed in children on dialysis or after renal transplantation but knowledge on physiologic age-related changes in serum fetuin-A is limited. We prospectively evaluated s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181bc3f60
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:We examined whether increased dairy intake was associated with changes in the levels of bone-related biochemical markers in overweight/obese adolescent girls undergoing a 12-week diet and exercise intervention. METHODS:Thirty-five girls were assigned to a low dairy group (LDa; 0-2 servings/day; n = 16) or a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0834-5
更新日期:2020-12-01 00:00:00
abstract::The prevalence of iron deficiency was determined in Göteborg, Sweden, in a sample of 15- to 16-y-old girls (n = 220) and boys (n = 207) using serum ferritin (SF). In a recent study in women on the relationship between SF and stainable bone marrow iron, it was established that at a cutoff value for SF of < 16 microgram...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199311000-00023
更新日期:1993-11-01 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::To assess the National Institutes of Health extramural activity in the area of pediatric nephrology research, the rate of submission of grant applications to the National Institutes of Health and available indicators of the quality of these applications were analyzed. This was accomplished by utilizing the grant appli...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198511000-00001
更新日期:1985-11-01 00:00:00
abstract::Phototherapy results in the conversion of bilirubin to more water-soluble isomers. Six clinically used phototherapy lamps which differ in their emission spectra have been compared in their ability to produce configurational and structural isomers of bilirubin in vitro. For all of the lamps, the initial rate of configu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198407000-00021
更新日期:1984-07-01 00:00:00
abstract:BACKGROUND:The objective was to determine the association between perioperative risk factors and brain imaging abnormalities on neurologic outcome in neonates with hypoplastic left heart syndrome (HLHS) or d-Transposition of the great arteries (d-TGA) who underwent cardiac surgery including cardiopulmonary bypass. MET...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-1085-1
更新日期:2020-07-25 00:00:00
abstract::Two infants with disorders of propionate metabolism were studied at 7 months of age to determine optimum levels of intake of protein and calories to meet the requirements for essential amino acid for growth in infancy, and at the same time minimize the accumulation of toxic intermediates. An effect of alanine was foun...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198501000-00023
更新日期:1985-01-01 00:00:00
abstract::In preterm infants, low levels of insulin like growth factor 1 (IGF-I) have been associated with impaired growth and retinopathy of prematurity. Our objective was to study safety and pharmacokinetics of i.v. administered rhIGF-I with its binding protein 3 (rhIGFBP-3) to preterm infants. At 3 d chronological age, an i....
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/PDR.0b013e31819d9e8c
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:The aim was to identify susceptibility alleles for infantile hypertrophic pyloric stenosis (IHPS) in a pedigree previously linked to IHPS5 on chromosome 16q24. METHODS:We screened the positional and functional candidate gene FOXF1 by Sanger sequencing in a single affected individual. All family members for ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.244
更新日期:2017-04-01 00:00:00
abstract::The growth hormone-releasing hexapeptide (GHRP-6) specifically stimulates growth hormone (GH) secretion in several animal species and humans. The mechanism of action of GHRP-6 is largely unknown, although experimental evidence indicates that it may modulate growth hormone-releasing hormone (GHRH) and somatostatin acti...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199408000-00006
更新日期:1994-08-01 00:00:00
abstract::The use of erythrocyte entrapment as a strategy to deliver and protect exogenously administered enzymes for replacement therapy in selected genetic diseases has been evaluated in a mammalian model system. The uptake, tissue distribution, intracellular localization, and in vivo lifetime of erythrocyte-entrapped bovine ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197512000-00011
更新日期:1975-12-01 00:00:00
abstract::Deficiency of the lipoprotein complex, surfactant, can lead to respiratory distress syndrome (RDS) in the prematurely born infant. The surfactant proteins (SP) play important roles in the function of surfactant. Previously, we have characterized four allelic variants of the SP-A1 gene (6A, 6A2, 6A3, and 6A4) and five ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199802000-00003
更新日期:1998-02-01 00:00:00
abstract::Sleep organization of infants may be influenced by differences in nutrient intakes from human milk and formula. Because sleep/awake and sleep stage patterns affect energy expenditure, we hypothesized that differences in sleep organization between breast-fed and formula-fed infants might account in part for differences...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199211000-00003
更新日期:1992-11-01 00:00:00
abstract::The IQ's of Jamaican boys aged 6-10 were associated significantly with the presence or absence of severe malnutrition in infancy, with height at time of IQ testing, and with a measure of the boys' social background. A multiple correlation coefficient of 0.674 was obtained between IQ and the three factors. Social backg...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197601000-00011
更新日期:1976-01-01 00:00:00
abstract::Children with inflammatory bowel disease are known to be at risk of osteopenia. The cause of this osteopenia is likely to be multifactorial, but the inflammatory process with its characteristic overproduction of cytokines has been implicated. To investigate this possible contribution of the disease activity to the dev...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200008000-00008
更新日期:2000-08-01 00:00:00
abstract::Escherichia coli which elaborate heat stable enterotoxin (ST) are a major cause of endemic diarrhea in infants. The reason(s) for this increased susceptibility of infants to ST-mediated diarrhea is unknown. We investigated the possibility that the immature (14 and 21 day old) rat small intestine is more sensitive to S...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198606000-00017
更新日期:1986-06-01 00:00:00
abstract::The effects of ascorbic acid on the excretion of homogentisic acid and its derivative benzoquinone acetic acid were studied in two adults and three infants. The administration of relatively large amounts of ascorbic acid to the adults was followed by a disappearance of benzoquinone acetic acid from the urine, whereas ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198908000-00015
更新日期:1989-08-01 00:00:00
abstract:BACKGROUND:Pulmonary hypertension (PH) in patients with bronchopulmonary dysplasia (BPD) results from vasoconstriction and/or vascular remodeling, which can be regulated by mitogen-activated protein kinases (MAPKs). MAPKs are deactivated by dual-specificity phosphatases (DUSPs). We hypothesized that single-nucleotide p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0502-9
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:To determine associations of low superior vena cava (SVC) flow (≤55 ml/kg/min) and low right ventricular output (RVO) (≤150 ml/kg/min) in preterm infants. DESIGN/METHODS:An observational study in infants <30 weeks gestation randomized to receive immediate (<10 s) or delayed cord clamping (DCC) (≥60 s). RESU...
journal_title:Pediatric research
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1038/s41390-019-0348-1
更新日期:2019-07-01 00:00:00
abstract::The activity of galactose-1-phosphate uridyltransferase (transferase) and galactokinase in several organs from human fetuses 7-28 weeks old was measured by using radioactive substrates and column chromatography for product identification. The specific activity of transferase and galactokinase increased with gestationa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197710000-00004
更新日期:1977-10-01 00:00:00
abstract::Previous studies have shown that early life stress in the form of intermittent maternal separation (MS) predisposes adult rats to develop stress-induced intestinal mucosal dysfunction and visceral hypersensitivity. However, the mechanism involved in the functional abnormalities is unclear. Our aim was to study immatur...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000190577.62426.45
更新日期:2006-01-01 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::This study tested the hypothesis that the sexually dimorphic adrenocortical response to stress is already established before birth. Chronically instrumented late gestation pregnant sheep carrying 16 male and 15 female age-matched singleton fetuses were subjected to an acute episode of hypoxic stress. Maternal and feta...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3182042a20
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Genotyping tests were developed to attenuate the impact of viral resistance. Information about the efficacy in genotype base antiretroviral therapy in children is rare and even more in low- and middle-income countries. METHODS:Sixteen children with antiretroviral therapy (ART) failure and triple-class drug-...
journal_title:Pediatric research
pub_type: 杂志文章,多中心研究
doi:10.1038/pr.2016.53
更新日期:2016-07-01 00:00:00
abstract::Plasma aldosterone (A), corticosterone (B), deoxycorticosterone (DOC), progesterone (P), 17-hydroxyprogesterone (17-OHP), cortisol (F), and cortisone (E) were measured simultaneously by specific radioimmunoassays in small plasma samples obtained from 174 normal infants and children between 2 hr and 15 yr of age. The s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198001000-00010
更新日期:1980-01-01 00:00:00