Abstract:
:Isolated TSH deficiency leading to hypothyroidism seems to be a rare condition, escaping the diagnosis by neonatal screening programs, which are based on the primary determination of TSH. This is the first report of a case with an autosomal recessive TSH defect caused by a homozygous mutation of the betaTSH gene that was diagnosed in the early neonatal period. Hypothyroidism in the first child of apparently unrelated parents was suspected because of the classical symptoms of congenital hypothyroidism, which were fully expressed already on the 11th day of life. Routine neonatal TSH-screening on the 4th day of life had been normal, but subsequent determination of serum thyroid hormone levels revealed almost undetectable levels and thyroid hormone substitution was immediately started. Because there was no indication for other pituitary hormone deficiencies, sequence analysis of the betaTSH gene was initiated. A homozygous T deletion in codon 105 was found resulting in a change of a highly conserved cysteine to valine followed by eight altered amino acids and a premature stop codon due to the frame-shift. This altered betaTSH is a biologically inactive peptide. Because of the early development of severe symptoms, it is possible that this altered TSH suppresses the physiologic constitutive activity of the unliganded TSH receptor. Rapid molecular diagnosis in this patient clarified the diagnosis without additional endocrine and imaging studies and it is concluded, that symptoms of hypothyroidism in the neonatal period should result always in an immediate comprehensive work-up of thyroid function including molecular genetic studies irrespective of the screening result.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Biebermann H,Liesenkötter KP,Emeis M,Oblanden M,Grüters Adoi
10.1203/00006450-199908000-00007subject
Has Abstractpub_date
1999-08-01 00:00:00pages
170-3issue
2eissn
0031-3998issn
1530-0447journal_volume
46pub_type
杂志文章abstract::Adverse perinatal events affecting cerebral functions are a major cause of neonatal mortality, morbidity, and long-term neurologic deficit. Intrapartum fetal EEG, which records fetal brain electrical activity, provides a monitoring modality for evaluating the fetal CNS during labor. In this study, we describe a new ap...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200009000-00013
更新日期:2000-09-01 00:00:00
abstract::Mutations in multidrug resistance 3 gene (MDR3 or ABCB4) underlie progressive familial intrahepatic cholestasis type 3 (PFIC3), a severe pediatric liver disease progressing to cirrhosis. Abcb4-/- mice exhibit slowly developing hepatic lesions that can be accelerated by feeding a cholic acid (CA)-supplemented diet. We ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e31802d7780
更新日期:2007-02-01 00:00:00
abstract::Monocyte chemoattractant protein-1 (MCP-1), acting through its C-C chemokine receptor 2 (CCR-2), has important roles in inflammation, angiogenesis, and wound repair. The individual and combined effects of inhaled nitric oxide (NO) and hyperoxia on lung MCP-1 and CCR-2 in relation to lung leukocyte dynamics are unknown...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200111000-00017
更新日期:2001-11-01 00:00:00
abstract::Spleens from 1-20-wk-old guinea pigs infected in utero with Treponema pallidum and age-matched controls, born to normal and heat-killed (56 degrees C, 2 h.) T. pallidum-injected mothers, were examined for their in vitro lymphoproliferative response to phytohemagglutinin, concanavalin A, and lipopolysaccharide. Additio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199712000-00013
更新日期:1997-12-01 00:00:00
abstract::An increase in polymorphonuclear leukocytes (PMNs) and proinflammatory chemokines, such as IL-8 and macrophage inflammatory protein-1 alpha (MIP), are found in the airways during early stages of bronchopulmonary dysplasia. We determined whether IL-10 produces a dose-related inhibition of proinflammatory chemokine rele...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000077471.36217.6E
更新日期:2003-09-01 00:00:00
abstract::High-frequency oscillatory ventilation (HFOV) may improve pulmonary outcome in very preterm infants, but the effects on the brain are largely unknown. We hypothesized that early prolonged HFOV compared with low volume positive pressure ventilation (LV-PPV) would not increase the risk of delayed brain growth or injury ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181bb0cc1
更新日期:2009-11-01 00:00:00
abstract::Skin reflectance in red, green, and blue light was measured at the sternum of 99 Caucasian infants ranging in gestational age from 26 to 44 weeks. Skin reflectance was consistently higher in female infants, but this difference was not statistically significant. Highly significant (P less than 0.001) increases in refle...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197609000-00002
更新日期:1976-09-01 00:00:00
abstract::In the original article, the legend within Fig. 3 incorrectly read as '*p < 0.10, **p < 0.05, ***p > 0.01'. This has now been changed to '*p < 0.10, **p < 0.05, ***p < 0.01'. This has been corrected in both the PDF and HTML versions of the Article. The authors would like to apologise for this error. ...
journal_title:Pediatric research
pub_type: 已发布勘误
doi:10.1038/s41390-019-0323-x
更新日期:2019-04-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.34
更新日期:2013-05-01 00:00:00
abstract::Long chain polyunsaturated fatty acids (LCPUFA)seem to be the most trophic macronutrients in inducing intestinal adaptation in adult short bowel syndrome (SBS), although their effects on intestinal adaptation in infants with SBS remain unknown.It is hypothesized that a high fat diet enriched with n-3 LCPUFA derived fr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181eb2ee5
更新日期:2010-09-01 00:00:00
abstract::BackgroundPatent ductus arteriosus (PDA) is a common complication seen in preterm infants. Indomethacin is routinely used to treat PDA. Evidence suggests that the response of indomethacin is highly heritable. This study investigated the association between single-nucleotide polymorphisms (SNPs) in CYP2C9 and the closu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.145
更新日期:2017-11-01 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::Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199101000-00012
更新日期:1991-01-01 00:00:00
abstract::Children with inborn errors of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit cognitive deficits and neurologic abnormalities. Yet, there is evidence that ammonia is not the only neurotoxin. Hyperammonemia appears to induce a number of neurochemical alterations. In rodent models of hyperammon...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199210000-00021
更新日期:1992-10-01 00:00:00
abstract::The objective of the present study is to compare the emergence of a circadian respiratory pattern in subsequent siblings of SIDS and controls infants to see whether the unique time and age of SIDS is correlated with altered circadian manifestations. During the first three months of life, a pattern in respiratory rates...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198004000-00018
更新日期:1980-04-01 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::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::Hypothermia is a frequent occurrence in newborns, and thermoregulatory management is a fundamental part of medical stabilization. Although modest reduction in brain temperature (2-3 degrees C) before ischemia provides neuroprotection in adults, the effect of modest hypothermia on immature brain has not been examined. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1994-04-01 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
abstract::The association between lung injury and thrombocytopenia was investigated by comparing the megakaryocyte and platelet counts, and platelet activation using P-selectin as a marker, between the prepulmonary (right atrial) and postpulmonary (left atrial) blood in adult and neonatal (preterm and term) rats with and withou...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000079186.86219.29
更新日期:2003-09-01 00:00:00
abstract:BACKGROUND:Fetal hypoxia-ischemia (H-I) results in significant morbidity and mortality. Little is known about the timing of death in human stillbirths. The vulnerability of the fetus varies with age at the time of insult, but it is unknown what happens to the timing of fetal death in relation to a fetal insult. We aske...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.65
更新日期:2012-08-01 00:00:00
abstract::The change in the pattern of biotransformation of [14C]corticosterone in fetal mouse brain between gestational day 14 and 17 increased the proportion of unchanged hormone from 9-75%. A sharp decrease in the in vitro incorporation of [14C]leucine, [3H]uridine, and [3H]thymidine into incubated brain coincided with this ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197812000-00011
更新日期:1978-12-01 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::A number of neuromuscular diseases are associated with molecular defects in the mitochondrial DNA (mtDNA). These include: 1) a missense mutation at nucleotide 11778 in the mtDNA of Leber's hereditary optic neuropathy patients; 2) a heterogeneous array of deletions in the mtDNA of ocular myopathy patients; and 3) small...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199011000-00023
更新日期:1990-11-01 00:00:00
abstract:INTRODUCTION:The Coulter LH780 hematology analyzer can evaluate mean neutrophil volume (MNV), conductivity (MNC), scatter (MNS), and distribution width (DW). We sought to investigate the value of volume, conductivity, and scatter (VCS) parameters in diagnosis and treatment efficacy of neonatal sepsis. RESULTS:We obser...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.16
更新日期:2012-01-01 00:00:00
abstract::Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive r...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180a03232
更新日期:2007-08-01 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::Serum copper (Cu) and zinc (Zn) concentrations were measured in neonates with an appropriate birth weight for gestational age (AGA) and in small-for-gestational age infants. At 7 days of age, there was a positive correlation between serum Cu concentration and gestational age (GA) (r = 0.63; P < 0.001) and a negative c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198009000-00005
更新日期:1980-09-01 00:00:00
abstract::Based on the serum phenylalanine levels under free diet patients with hyperphenylalaninemia are classified as "classical" (>1200 micromol/L), "mild" (600-1200 micromol/L), or "non-phenylketonuria (PKU)-hyperphenylalaninemia" (<600 micromol/L). Recent studies revealed intellectual, neurologic, and neuropsychologic defi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199709000-00020
更新日期:1997-09-01 00:00:00
abstract::Despite the availability of successful prevention strategies to prevent excessive hyperbilirubinemia, the neurological sequelae of bilirubin neurotoxicity (BNTx) still occur throughout the world. Kernicterus, encephalopathy due to BNTx, is now understood to be a spectrum of severity and phenotypes known as kernicterus...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-019-0608-0
更新日期:2020-01-01 00:00:00