Abstract:
:Thyroid hemiagenesis is a rare form of thyroid dysgenesis of which some familial cases have been reported, including one associated with a heterozygous mutation in the Pax8 gene. However, the physiopathology remains not well known. The objectives of this study were 1) to describe the clinical features, 2) to look for familial clustering, and 3) to search for Pax8 mutations in a relatively large cohort of affected patients. A family history of thyroid dysgenesis was found in nine patients (40%), whose affected relatives had ectopic thyroid (n = 4), athyreosis (n = 1), thyroid hemiagenesis (n = 2), or thyroglossal duct cysts (n = 2). Screening for Pax8 mutations identified abnormal migration profiles by SSCP analysis in 3 patients, but direct sequencing did not show coding region mutations in any of the 22 patients. In conclusion, this study provides the first evidence that thyroid hemiagenesis can occur as a familial disorder associated with any form of thyroid dysgenesis. This finding supports both a common underlying mechanism to the various abnormalities in thyroid development and a role for genetic factors; however, our results from Pax8 analysis suggest that this gene may not be a key factor.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Castanet M,Leenhardt L,Léger J,Simon-Carré A,Lyonnet S,Pelet A,Czernichow P,Polak Mdoi
10.1203/01.PDR.0000161409.04177.36subject
Has Abstractpub_date
2005-06-01 00:00:00pages
908-13issue
6eissn
0031-3998issn
1530-0447pii
01.PDR.0000161409.04177.36journal_volume
57pub_type
杂志文章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::Television viewing (TVV) is considered a contributing factor to the development of childhood obesity yet it is unclear whether obesity results, in part, from increased energy intake during TVV. The objective of this study was to determine the effect of TVV on food intake (FI) of boys at a meal and its effect on calori...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e3180536591
更新日期:2007-06-01 00:00:00
abstract::The fetal and maternal concentration of various plasma proteins alters during pregnancy. Cells in the livers of fetal hamsters accumulate serum amyloid A (SAA) and C-reactive protein (CRP) mRNA, major acute phase reactants, when lipopolysaccharide is administered to the fetal circulation. No fetal SAA or CRP mRNA resp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199111000-00010
更新日期:1991-11-01 00:00:00
abstract::Few data exist regarding resuscitation of hypovolemic shock in infants, and alternative strategies such as vasopressor therapy merit further evaluation. However, the effects of norepinephrine on cerebral perfusion and oxygenation during hemorrhagic shock in the pediatric population are still unclear. Eight anesthetize...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181425858
更新日期:2007-10-01 00:00:00
abstract::Alterations in thermoregulatory mechanisms related to sleep state may play an important role in the problems of homeostasis experienced by the premature infant. In the adult, homeothermic regulation of body temperature may be suspended during REM. We measured oxygen consumption (VO2) in six premature infants 33-35 wk ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198207000-00002
更新日期:1982-07-01 00:00:00
abstract::BackgroundPregnant women at a high risk of preterm delivery receive glucocorticoids to accelerate fetal lung maturation and surfactant synthesis. However, the effect of antenatal steroids on the developing diaphragm remains unclear. We hypothesized that maternal betamethasone impairs the fetal diaphragm, and the magni...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.99
更新日期:2017-09-01 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::We investigated the role of circulating bone marrow cells (BMC) in cardiomyocyte regeneration. BMC, isolated from transgenic mice expressing enhanced green fluorescent protein (GFP), were transplanted into lethally irradiated C57BL6 mice. Five weeks after bone marrow transplantation (BMT), flow cytometric analysis for...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000078275.14079.77
更新日期:2003-09-01 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::Intratracheal lipopolysaccharide (LPS) causes acute inflammation and injurious mechanical ventilation results in pulmonary and systemic inflammation. We aimed to determine in preterm lungs if continuous positive airway pressure (CPAP) protects against pulmonary and systemic inflammation, compared with conventional mec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318189487e
更新日期:2009-01-01 00:00:00
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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::Establishment of Helicobacter pylori infection as an etiologic agent of peptic ulcer disease and other gastric pathologies marked a revolution in gastroenterology which spurred an enormous interest in gastric physiology and immunology research. The association was soon also demonstrated in children as well. Applicatio...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2016.199
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Although cardiopulmonary bypass (CPB) has been previously studied as risking infection and inflammatory responses, few studies evaluate the relationship of preoperative high total immunoglobulin E (tIgE) to outcomes in pediatric patients predisposed to atopy undergoing cardiac surgery with CPB. METHODS:Seru...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0048-2
更新日期:2018-11-01 00:00:00
abstract::This study reports the Hb, erythropoietin (Epo), and reticulocyte course at different postnatal ages (range, 8-83 d) of 56 blood samples from 30 newborns (range, one or two blood samples from each newborn) with erythroblastosis fetalis (18 intrauterine transfused (IUTd) and 12 non-IUTd). Hb, Epo, and reticulocyte valu...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199608000-00027
更新日期:1996-08-01 00:00:00
abstract:BACKGROUND:Heterozygous ATP-binding-cassette subfamily A member 3 (ABCA3) mutations are associated with neonatal respiratory complications. In an adult murine model, we investigated whether Abca3 haploinsufficiency is a predisposing factor for lung injury induced by hyperoxia or mechanical ventilation. METHODS:Abca3 h...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.127
更新日期:2013-10-01 00:00:00
abstract::Maternal smoking doubles the risk of delivering a low birth weight infant. The purpose of this study was to analyze differential gene expression in umbilical cord tissue as a function of maternal smoking, with an emphasis on growth-related genes. We recruited 15 pregnant smokers and 15 women who never smoked during pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31817c5507
更新日期:2008-08-01 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::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 visual evoked potential (VEP) of five healthy, near-term exteriorized fetal lambs was compared with the VEP obtained from the same animals during the first hour after ventilation. Characteristics of the individual wave components and their relationship to blood pressure, heart rate, and arterial blood gas measurem...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198111000-00009
更新日期:1981-11-01 00:00:00
abstract::Several hours after an hypoxic-ischemic injury to the developing brain, hyperemia, then seizures, edema, and infarction can develop. The roles of nitric oxide (NO) synthesis and excitotoxin accumulation during these later phases of injury are not known. The time course of extracellular levels of amino acids within the...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199605000-00008
更新日期:1996-05-01 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::We assessed auditory event-related potentials in small-for-gestational-age (SGA; 850 +/- 258 g, 28.9 +/- 3.3 gestational wk; n = 15) and appropriate for gestational age (AGA; 1014 +/- 231 g, 26.9 +/- 1.9 gestational wk; n = 20) preterm infants and healthy term infants (n = 22). An oddball paradigm was used with a harm...
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pub_type: 杂志文章
doi:10.1203/01.PDR.0000132750.97066.B9
更新日期:2004-08-01 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::The ventricular epicardial activation sequence (VEAS) in 15 anesthetized lambs (near term fetus to 3.5 months of age) was determined using 40 simultaneously recorded bipolar electrograms for each animal. Isochrone maps were drawn by hand using relative activation times determined from the maximum first derivative of m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::Previous studies have demonstrated that myocardial function changes during mammalian perinatal development. The purpose of this study was to evaluate the subcellular basis underlying the slower relaxation in the developing heart by examining perinatal changes in sarcoplasmic reticulum (SR) function, and in SR Ca2+ pum...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199205000-00012
更新日期:1992-05-01 00:00:00
abstract::Angiotensin II-forming chymase is expressed in the pulmonary arteries of the monocrotaline-induced pulmonary hypertensive rats, but its actual role is unclear. We studied chymase-dependent angiotensin II formation in the pulmonary arteries of the monocrotaline-induced pulmonary hypertensive rats and observed the effec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000219431.45075.d9
更新日期:2006-07-01 00:00:00
abstract::Guinea pig gallbladder smooth muscle contractility undergoes a period of postnatal maturation. Because tissues from adult animals contract more forcefully than tissues from newborn animals when stimulated with agonists that activate the contractile process through different mechanisms (receptor activation, membrane de...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199010000-00007
更新日期:1990-10-01 00:00:00
abstract::Dexamethasone (Dex) and triiodothyronine (T3) were administered to pregnant rats during late gestation to evaluate potential developmental effects on fetal lung vitamin K-dependent carboxylation. Maternal rats were injected on the 2 d before study with Dex (0.2 mg/kg intraperitoneally), with T3 (0.7, 3.5, or 7 mg/kg i...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198905000-00021
更新日期:1989-05-01 00:00:00
abstract::IL-8/CXC ligand (CXCL) 8 is ingested in high concentrations by the human fetus/neonate with amniotic fluid and human milk, and is also produced constitutively by intestinal epithelial cells (IEC). We have shown that recombinant human IL-8/CXCL8 (rhIL-8/CXCL8) protects cultured IEC against tumor necrosis factor (TNF)-a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000133196.25949.98
更新日期:2004-08-01 00:00:00
abstract::In the small bowel of patients with cystic fibrosis, primary defects involving both chloride transport and mucus secretion have been demonstrated, but there is no general consensus about the morphologic counterpart of functional and biochemical abnormalities. We have studied the intestinal mucosa in a group of patient...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199802000-00013
更新日期:1998-02-01 00:00:00