Abstract：
:Measurement of methionine levels in dried blood spots has been one of the items of neonatal screening in Taiwan for more than 20 years. In 1,701,591 newborns, 17 cases of hypermethioninemia were detected, but among them only one had homocystinuria. More than half of the 16 cases of isolated hypermethioninemia had mutations in the MAT1A gene, and four of the eight MAT1A mutations identified in this study have not been reported before. Therefore methionine adenosyltransferase deficiency is the most prevalent cause of isolated hypermethioninemia in Taiwanese. Although most of the patients with isolated hypermethioninemia were put on diet in this study, their IQ scores were not related to either the initial or follow-up plasma methionine levels. Because both the etiology and the natural history of isolated hypermethioninemia haven't been clearly resolved, the impact of this condition on screening programs where homocystinuria is rare should be carefully evaluated.
journal_name
Early Hum Devjournal_title
Early human developmentauthors
Chien YH,Chiang SC,Huang A,Hwu WLdoi
10.1016/j.earlhumdev.2004.11.005keywords:
subject
Has Abstractpub_date
2005-06-01 00:00:00pages
529-33issue
6eissn
0378-3782issn
1872-6232pii
S0378-3782(04)00199-9journal_volume
81pub_type
杂志文章abstract：BACKGROUND:Term equivalent age (TEA) brain MRI identifies preterm infants at risk for adverse neurodevelopmental outcomes. But some infants may experience neurodevelopmental impairments even in the absence of neuroimaging abnormalities. OBJECTIVE:Evaluate the association of TEA amplitude-integrated EEG (aEEG) measures...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2018.02.010
更新日期：2018-04-01 00:00:00
abstract：BACKGROUND:Parent perception of child vulnerability (PPCV) and parent overprotection (POP) are believed to have serious implications for age appropriate cognitive and psychosocial development in very low birth weight preterm children. AIM:With recent concerns about suboptimal developmental outcomes in late-preterm chi...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2010.07.005
更新日期：2010-09-01 00:00:00
abstract：BACKGROUND:The requirement of essential fatty acids (EFA) for the development of the brain is well documented. OBJECTIVE:To investigate the early neurological development at term and 44 weeks gestational age in preterm infants in relation to EFA concentrations in breast milk and in infants' and mothers' plasma phospho...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2010.05.017
更新日期：2010-07-01 00:00:00
abstract：OBJECTIVE:To 1) define predictors of parent presence, any holding, holding in arms, and skin-to-skin care in the NICU and 2) investigate the relationships between parent participation and a) early neurobehavior and b) developmental outcomes at age 4 to 5years among preterm infants. METHODS:Eighty-one preterm infants b...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2017.12.008
更新日期：2018-02-01 00:00:00
abstract：:The structural changes in the umbilical cord of full term fetuses from 18 cases of gestational diabetes were studied. All these were insulin-dependent and their blood glucose levels were well controlled. Light microscopy showed rupture and erosion of the endothelial lining of umbilical arteries resulting in increased ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(86)90114-3
更新日期：1986-10-01 00:00:00
abstract：:Maternal milk four days post partum contained immunoreactive calcitonin in concentrations which were 22-89 times higher than those noted in concomitantly sampled maternal sera. Neurotensin-like immunoreactivity was barely detectable in milk. It is suggested that calcitonin may be a prerequisite for the concentration o...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(82)90060-3
更新日期：1982-01-01 00:00:00
abstract：INTRODUCTION:The 2D:4D digit ratio is sexually-dimorphic, probably due to testosterone action through the perinatal period. We characterize the 2D:4D ratio in newborn (NB) infants, in between the pre- and postnatal surges of testosterone, and relate it to the mother's 2D:4D and to testosterone levels in the amniotic fl...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2012.08.009
更新日期：2013-02-01 00:00:00
abstract：:Comparisons of the components of ventilator waveform were made in two groups of preterm infants ventilated for the respiratory distress syndrome. Infants actively expiring against positive pressure inflation were compared to infants not showing this interaction. The actively expiring infants were ventilated with a hig...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(88)80051-3
更新日期：1988-05-01 00:00:00
abstract：BACKGROUND:Fetal cells exfoliate in the uterine cavity during early pregnancy and are a potential source of material for NIPD. AIMS:This study was designed to test the hypothesis that fetal cells obtained from the uterine cervix during the first trimester of pregnancy could be utilized for prenatal diagnosis of chromo...
journal_title：Early human development
pub_type： 临床试验,杂志文章
doi：10.1016/j.earlhumdev.2010.04.005
更新日期：2010-05-01 00:00:00
abstract：:Several studies have described an association between very preterm birth and behavioral and psychiatric outcomes in childhood and adolescence. The exact mechanisms underlying this association are unknown, but impaired neurodevelopment has been proposed as a possible etiological factor. Existing research suggests a sel...
journal_title：Early human development
pub_type： 杂志文章,评审
doi：10.1016/j.earlhumdev.2013.02.002
更新日期：2013-04-01 00:00:00
abstract：:Standards for Research (StaR) in Child Health, founded in 2009, addresses the current scarcity of and deficiencies in pediatric clinical trials. StaR Child Health brings together leading international experts devoted to developing practical, evidence-based standards to enrich the reliability and relevance of pediatric...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2013.09.011
更新日期：2013-11-01 00:00:00
abstract：:Eleven healthy fetuses between 36 and 39 weeks of gestation were studied during the active sleep state to examine effects of a 5-s vibratory acoustic stimulus on the baseline fetal heart rate and flow velocity waveform in the fetal internal carotid artery. There was an immediate marked rise in baseline fetal heart rat...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(89)90105-9
更新日期：1989-04-01 00:00:00
abstract：OBJECTIVE:To establish longitudinal reference ranges for the fetal superior mesenteric artery (SMA) flow velocity and pulsatility index (PI(SMA)). Also to examine the hemodynamic relationship to venous liver perfusion and umbilical flow distribution in the liver, to other splanchnic arteries, and more generally to the ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2008.09.412
更新日期：2009-04-01 00:00:00
abstract：BACKGROUND:Previously, we reported that regular maternal aerobic exercise during pregnancy was associated with lower fetal heart rate (HR) and higher heart rate variability (HRV) at 36weeks gestation. We now report the effect of maternal exercise on infant HR and HRV in subjects who remained active in the study at the ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2013.11.001
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:Using pure oxygen (PO) in neonatal resuscitation increases oxidative stress and mortality in full-term hypoxic infants. International neonatal resuscitation guidelines recommend air or blended oxygen for resuscitation regardless of gestational age but this requires education and equipment that may not be glo...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2012.01.005
更新日期：2012-08-01 00:00:00
abstract：OBJECTIVE:To evaluate the preschool neurodevelopmental outcome in CDH survivors between 2 and 5 years of age and to identify perinatal and postnatal factors that may be predictive of persistent neurological deficits. METHODS:The study cohort consists of 60 CDH survivors that were enrolled in our prospective, follow-up...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2012.12.009
更新日期：2013-06-01 00:00:00
abstract：:This project aimed to assess the accuracy of Tempa-DOT and FeverScan for measuring children's temperatures. Tempa-DOT is a small flat chemical thermometer with 50 dots that change colour at specific temperatures. FeverScan is a liquid crystal strip thermometer with temperature sensitive colour bars that change colour ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(98)00050-4
更新日期：1998-12-01 00:00:00
abstract：:Case-control studies are frequently performed in prenatal and perinatal epidemiology. For data collection, these studies often rely on self-administered questionnaires or personal interviews. Although of importance, validation of these measurement instruments received little attention in epidemiologic research so far....
journal_title：Early human development
pub_type： 评论,信件
doi：10.1016/j.earlhumdev.2010.09.372
更新日期：2011-01-01 00:00:00
abstract：:Slide show presentations have become integral to the workplace, and PowerPoint is ubiquitous since it ships with the Microsoft Office Suite. However, the increasing sophistication of such software may encourage presenters to privilege form over content. It is possible to apply scientific research from Educational Psyc...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2018.06.006
更新日期：2018-10-01 00:00:00
abstract：:ELISA methods were used to determine the concentrations of CAI and CAII in spermatozoa, seminal plasma, ovarian follicular fluid, decidual tissues, chorionic villi and various fetal tissues at 8-11 weeks gestation. Both CAI and CAII were expressed in all subjects except ovarian follicular fluid samples. The possible p...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(97)00119-9
更新日期：1998-07-10 00:00:00
abstract：BACKGROUND:Septic complications lead to a high mortality rate in very low birthweight infants (VLBWI). Therefore, prognostic markers for the development of sepsis attach importance to start an efficient therapy as early as possible. AIMS:Functional and phenotypical variables of blood monocytes in the cord and peripher...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(01)00245-6
更新日期：2002-04-01 00:00:00
abstract：AIM:This study examined the rates of follow-up for a cohort of extremely preterm (EP -<28weeks gestation) and/or extremely low birthweight (ELBW -<1000g) children at two years with related perinatal and geographical factors. The secondary aim was to determine the rates of developmental delay and disability. METHODS:A ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2015.09.012
更新日期：2015-12-01 00:00:00
abstract：BACKGROUND:Positional plagiocephaly refers to atypical development of an uneven head shape with asymmetrical head orientation as a post-natal risk factor. The development of the head orientation profile and its relationship with positional plagiocephaly are lacking. OBJECTIVES:To explore the head orientation profile d...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2016.03.001
更新日期：2016-05-01 00:00:00
abstract：:Relationships between maternal factors associated with very slow and very fast fetal growth rate, and the postnatal growth patterns within groups of 238 small-for-dates (SFD) and 241 large-for-dates (LFD) children were examined. Within the SFD group significant differences were found in their weight, height, and to a ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(82)90036-6
更新日期：1982-12-01 00:00:00
abstract：:Fifty-five pregnant Rhesus isoimmunized women were subjected to fetal blood sampling or fetal blood transfusion on 135 occasions. Glucose and C-peptide concentrations were measured in fetal blood, in addition to the routine investigations for complete blood count, blood gases and lactate concentration, in order to inv...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(90)90027-g
更新日期：1990-12-01 00:00:00
abstract：:Behavioural state observations were carried out on 12 fetuses which subsequently had birthweights below the 10th percentile. Their gestational ages at the time of study ranged from 32 to 40 weeks. Real-time ultrasound scanning was used to detect fetal body and eye movements, and the fetal heart rate was continuously r...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(85)90181-1
更新日期：1985-11-01 00:00:00
abstract：:Posture and spontaneous motor patterns during the first days of life were studied in ten healthy fullterm infants by direct observation and videorecording. The aim of the study was to provide a description of motor and postural characteristics of normal newborns. The infants were recorded for 1 h on their first and fo...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(89)90020-0
更新日期：1989-02-01 00:00:00
abstract：AIM:To determine whether maternal state and trait anxiety levels affect fetal movements or fetal heart rate (FHR) in the third trimester. SUBJECTS:Forty-one healthy pregnant nulliparous women not on medication and with a singleton pregnancy. STUDY DESIGN:Maternal anxiety was assessed using the Spielberger State- Trai...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(01)00256-0
更新日期：2002-04-01 00:00:00
abstract：:White matter injury and abnormal maturation are thought to be major contributors to the neurodevelopmental disabilities observed in children and adolescents who were born preterm. Early detection of abnormal white matter maturation is important in the design of preventive, protective, and rehabilitative strategies for...
journal_title：Early human development
pub_type： 杂志文章,评审
doi：10.1016/j.earlhumdev.2008.09.004
更新日期：2008-12-01 00:00:00
abstract：BACKGROUND:Neonatal Encephalopathy (NE) is a prominent cause of infant mortality and neurodevelopmental disability. Hypothermia is an effective neuroprotective therapy for newborns with encephalopathy. Post-hypothermia functional-anatomical correlation between neonatal neurobehavioral abnormalities and brain injury fin...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2013.05.006
更新日期：2013-09-01 00:00:00
