Abstract:
:To understand scoliosis, related comorbidities, and phenotype-genotype correlations in individuals with Rett syndrome (RTT), the Rare Disease Clinical Research Network database for RTT was probed. Clinical evaluations included a detailed history and physical examination, comprehensive anthropometric measurements, and two quantitative measures of clinical status, Clinical Severity Scale (CSS) and motor-behavioral analysis (MBA). All data were exported to the Data Technology Coordinating Center (DTCC) at the University of South Florida. Scoliosis assessment was based on direct examination and curvature measurements by radiography (Cobb angle). Statistical analyses included univariate and multiple logistic regression models, adjusting for age at enrollment or mutation type. Scoliosis data were available from 554 classic RTT participants, mean age = 10 y (0-57 y). Scoliosis was noted in 292 (53%); mean age = 15 y with scoliosis and 6 y without. Using multiple regression analysis, MBA severity score, later acquisition, loss or absent walking, and constipation were associated with scoliosis. Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. These findings corroborated previous reports on scoliosis and extended understanding of comorbidities, clinical severity, and relative risk reduction for specific mutations. Clinical trial design should account for scoliosis and related factors judiciously.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Percy AK,Lee HS,Neul JL,Lane JB,Skinner SA,Geerts SP,Annese F,Graham J,McNair L,Motil KJ,Barrish JO,Glaze DGdoi
10.1203/PDR.0b013e3181d0187fsubject
Has Abstractpub_date
2010-04-01 00:00:00pages
435-9issue
4eissn
0031-3998issn
1530-0447journal_volume
67pub_type
杂志文章abstract::Preterm infants are prone to abnormal bacterial colonization of the intestine with ensuing adverse health effects. To examine whether the oral application of Bifidobacterium lactis Bb12 (probiotic) may improve selected indicators of health status in preterm infants, a double blind, placebo controlled randomized clinic...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/PDR.0b013e318181b7fa
更新日期:2008-10-01 00:00:00
abstract::We studied the effects of anemia and ouabain administration on cardiac function, oxygen physiology, and blood catecholamine levels in nine newborn lambs. We measured oxygen consumption continuously, along with traditional hemodynamic variables. Oxygen transport was calculated. Following baseline measurements, lambs we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198705000-00005
更新日期:1987-05-01 00:00:00
abstract::Quantitation of the body's fat and learn masses is an important component of nutritional assessment. Such measurements, however, are difficult to conduct routinely in infants due to the numerous limitations of traditional methods. The application of total body electrical conductivity measurements for quantitating fat-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract::Factors, such as insulin, found in human and pig colostrum and mature milk likely influence small intestinal growth and development. Although pharmacologic doses of insulin injected parenterally may accelerate small intestinal development in altricial animals such as the rodent, the effects of oral insulin on intestin...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199008000-00018
更新日期:1990-08-01 00:00:00
abstract:BACKGROUND:Maternal smoking impairs fetal growth; however, if postnatal growth differs between children born small for gestational age (SGA) with smoking and non-smoking mother is unknown. METHODS:Cohort-study of term born children born appropriate for gestational age with non-smoking mother (AGA-NS, n = 30,561), SGA ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0352-5
更新日期:2019-06-01 00:00:00
abstract::The hypoxanthine concentration in plasma was found to be a sensitive parameter of hypoxia of the fetus and the newborn infant. The plasma level of hypoxanthine in the umbilical cord in 29 newborn infants with normal delivery varied between 0 and 11.0 mumol/liter with a mean of 5.8 mumol/liter, SD 3.0 mumol/liter. Comp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197504000-00002
更新日期:1975-04-01 00:00:00
abstract::The incidence of allergic diseases has increased, and a relation between allergy and dietary fatty acids has been proposed. Modulation of the maternal immune function during pregnancy may have an impact on future clinical outcomes in the child. The aim of this study was to determine the effects of omega (omega)-3 long...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/PDR.0b013e3181aabd1c
更新日期:2009-08-01 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::Meconium aspiration syndrome (MAS) is a serious condition in newborns, associated with a poorly characterized inflammatory reaction. The aim of this study was to investigate a possible role for complement in pulmonary pathophysiology and systemic inflammation in experimental MAS. MAS was induced by instillation of mec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000141983.32466.2A
更新日期:2004-11-01 00:00:00
abstract::Alterations in the pancreatic secretion of fluid and of enzymes in response to either pilocarpine (15 mg/kg) or an octapeptide of cholecystokinin (0.1 microgram/kg) have been found in rats that received daily injections of reserpine (0.5 mg/kg) for 7 days. During a 3-hr secretory period, significant reductions in the ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198109000-00015
更新日期:1981-09-01 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::The age-related changes in fasting arterial levels of energy substrates and insulin were studied at birth and/or 6 wk in eleven baboon infants. In addition, the renal contribution to glucose release in the primate infant was estimated. Arterial blood glucose levels were similar in six fasted newborns and in nine faste...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198008000-00006
更新日期:1980-08-01 00:00:00
abstract::Vascular dopamine (DA1) receptors may modulate circulatory hemodynamics in lambs. We evaluated resting dopaminergic tone in lambs by pharmacologically manipulating peripheral DA1 receptors with i.v. SCH 23390, (a highly selective, competitive DA1 receptor antagonist) and i.v. fenoldopam, (a highly selective DA1 recept...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199302000-00018
更新日期:1993-02-01 00:00:00
abstract:BACKGROUND:Neonatal haemorrhaging is often co-observed with thrombocytopenia; however, no evidence of a causal relationship with low platelet count has been reported. Regardless, the administration of a platelet transfusion is often based upon this parameter. Accurate measurement of platelet function in small volumes o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0316-9
更新日期:2019-05-01 00:00:00
abstract::Cell-mediated immunity is not well characterized in very low birth weight infants, and abnormalities may represent a significant vulnerability to infection. This report describes 165 serial studies in 58 infants between 700 and 1300 g birth weight during the first 8 wk of life. Two ml of blood were drawn at 2-wk inter...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198805000-00003
更新日期:1988-05-01 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::Leukotriene B4 (LTB4) is a product of arachidonic acid metabolism and a potent chemoattractant for adult polymorphonuclear leukocytes (PMN). LTB4 may be an important inflammatory mediator in neonatal lung disorders such as bronchopulmonary dysplasia, but neonatal PMN chemotaxis to LTB4 has not been studied. We compare...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199303000-00006
更新日期:1993-03-01 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::Ventilation of immature airways has been shown to result in pressure-induced deformation and alteration of mechanical properties. These changes in mechanical properties may alter the effect of compressive pressures on pressure-flow relationships. To test this hypothesis, unventilated (Group I, n = 8) and ventilated (g...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198805000-00017
更新日期:1988-05-01 00:00:00
abstract::Tanshinone IIA is a compound purified from the Chinese herb Danshen (Radix Salviae Miltiorrhiza Bge). The neuroprotective effect of tanshinone IIA was investigated in a neonatal rat model of hypoxia-ischemia brain damage. Hypoxia-ischemia encephalopathy was induced in rats at day 7 of postnatal age by ligation of the ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000180550.99162.BC
更新日期:2005-10-01 00:00:00
abstract::Intestinal absorption and its relationship to increased total body water was studied in seven infants with congenital heart disease receiving regular diuretics due to congestive heart failure. All infants and six age-matched healthy controls were studied for a 3-d period during which time all food intake was recorded,...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199410000-00023
更新日期:1994-10-01 00:00:00
abstract::Thoracoabdominal asynchrony (TAA) and chest wall distortion (CWD) are commonly seen in preterm infants secondary to a highly compliant rib cage and poor compensation of distorting forces by inspiratory rib cage muscles. Continuous positive airway pressure (CPAP) reduces TAA and CWD by stenting the chest wall. We hypot...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200102000-00008
更新日期:2001-02-01 00:00:00
abstract::The previous biochemical evidence had suggested that glutaric aciduria type II (GA II) is due to deficient dehydrogenation of multiple short-chain acyl coenzyme A's (CoA's), bu the precise biochemical mechanism underlying this disease was unknown. We investigated substrate oxidation and in vitro activities of isovaler...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198012000-00013
更新日期:1980-12-01 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:BACKGROUND:Although it is commonly accepted that upper airway obstruction (UAO) increases gastroesophageal reflux (GER), the link is poorly understood and insufficiently documented. In addition, while hypoxia is often encountered in infants with UAO, its consequences on GER are virtually unknown. The two aims of the pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0920-8
更新日期:2020-05-01 00:00:00
abstract::Staphylococcus aureus has been isolated at an increasing rate from infants' stools during the last decades, but it is not known whether this species can colonize and persist in the intestinal microflora. To investigate this, 49 Swedish infants were followed prospectively from birth until 12 months of age. S. aureus wa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200012000-00007
更新日期:2000-12-01 00:00:00
abstract::Iron is essential for fetal organ development, but the effect of isolated iron deficiency on nephrogenesis is unknown. Human premature infants are at risk for disrupted nephrogenesis because glomerular development is incomplete until 36-wk gestation. We modeled the effects of iron on postnatal glomerulogenesis in four...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181be79c2
更新日期:2009-12-01 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::The effect of intrauterine growth retardation (IUGR) on cerebral and adrenal monoamine metabolism was studied in the fetuses of eight nulliparous rat dams after unilateral uterine artery ligation on d 18 of gestation. On d 22 (term = 23 d), four dams were subjected to normoxia and four to hypoxia (10% O2) for 58 min w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199202000-00008
更新日期:1992-02-01 00:00:00
abstract::Increased fetal lung expansion profoundly inhibits surfactant protein gene expression and stimulates cellular proliferation in the fetal lung. Our aim was to determine whether increased expansion of the lung after birth, by the application of a continuous positive airway pressure (CPAP) for 12 h, inhibits surfactant p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200112000-00015
更新日期:2001-12-01 00:00:00