Abstract：
:The biochemical, dermatological and neurological motor disorders of biotinidase deficiency (multiple carboxylase deficiency) show a dramatic response to pharmacological doses of biotin. This condition is characterised by the accumulation of biocytin and depletion of biotin. Neuromuscular function returns to normal with the reversal of the characteristic organic acidaemia. It would appear that the optic and auditory nerves or their related neurological structures may suffer damage from the excess biocytin and deficient biotin. Despite reversal of the dermatological and psychomotor abnormalities children are likely to be left with auditory and/or visual handicaps if diagnosis and treatment is delayed beyond the first year of life. Treatment with biotin was commenced 6, 18, and 13 months after onset of symptoms. Two children subsequently were found to have visual impairment (acquired retinal dysplasia) and two had sensori-neural deafness. In one patient both defects were present.
journal_name
Early Hum Devjournal_title
Early human developmentauthors
Taitz LS,Leonard JV,Bartlett Kdoi
10.1016/0378-3782(85)90086-6subject
Has Abstractpub_date
1985-09-01 00:00:00pages
325-31issue
3-4eissn
0378-3782issn
1872-6232pii
0378-3782(85)90086-6journal_volume
11pub_type
杂志文章abstract：OBJECTIVE:To assess the applicability of Drotar model when the diagnosis of congenital malformation is made antenatally. METHODS:In a 3-year period (2000-2003) fifty mothers, counselled for fetal malformations amenable to surgical correction at birth, were interviewed. Statistical associations were sought between each...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2005.12.010
更新日期：2006-10-01 00:00:00
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 muta...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2004.11.005
更新日期：2005-06-01 00:00:00
abstract：:The presence of dilated bowel loops antenatally suggests fetal bowel obstruction. Neonatal intestinal obstruction can have different variations in presentation depending on the level and extent of obstruction. Some of these conditions can be diagnosed antenatally. Antenatal detection of surgically correctable anomalie...
journal_title：Early human development
pub_type： 杂志文章,评审
doi：10.1016/j.earlhumdev.2006.02.005
更新日期：2006-05-01 00:00:00
abstract：:We have investigated infant-caregiver interactions in an isolated African subsistence farming community where women perform arduous agricultural tasks in addition to their normal domestic duties which include child care. 49 babies aged 3-18 months were studied on one or two occasions. Detailed observations were made o...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(85)90139-2
更新日期：1985-10-01 00:00:00
abstract：:Placental tissue from five women undergoing elective caesarean did not present differences in fatty acids or mRNA expression of FATP-1, FATP-4 and H-FABP in different placental locations. mRNA expression of FATP-1 and FATP-4 was significantly higher than H-FABP. The expression of L-FABP was too low in placenta for acc...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2006.02.001
更新日期：2006-10-01 00:00:00
abstract：OBJECTIVE:To identify obstetric risk factors and to elucidate the effect of prolonged rupture of the membranes on the development of cystic periventricular leukomalacia (PVL) in preterm infants. METHODS:A retrospective case-control study of 95 preterm infants with the diagnosis of PVL and 245 healthy controls matched ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2008.07.007
更新日期：2009-03-01 00:00:00
abstract：BACKGROUND:Some researchers have developed child feeding indices to summarize child feeding practices so that they can compare child feeding practices across countries and monitor changes over time within a given country. AIMS:An adapted version of the infant and child feeding index (ICFI) developed by Ruel and Menon ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2008.10.009
更新日期：2009-04-01 00:00:00
abstract：BACKGROUND:Improved neonatal survival data have been reported following early preterm prelabour rupture of membranes (PPROM) prior to 25 weeks gestation with a prolonged latency to delivery and persistent oligohydramnios. However, data regarding long-term respiratory and neurological morbidity are lacking. AIMS:To eva...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2012.01.012
更新日期：2012-08-01 00:00:00
abstract：BACKGROUND:Transcutaneous bilirubin (TcB) measurement is widely used as screening for neonatal hyperbilirubinaemia. AIMS:To prospectively validate TcB measurement using hour-specific nomogram in identifying newborn infants not at risk for severe hyperbilirubinaemia. STUDY DESIGN:prospective, observational, multicente...
journal_title：Early human development
pub_type： 杂志文章,多中心研究
doi：10.1016/j.earlhumdev.2011.07.001
更新日期：2012-01-01 00:00:00
abstract：:There is convincing evidence that breast-feeding is protective against gastro-enteritis and diarrhoea, but for other infections the situation is less clear cut. There is evidence that breast-fed infants are at increased risk of one infection (infant botulism). They are probably not significantly protected from upper r...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(97)00056-x
更新日期：1997-10-29 00:00:00
abstract：BACKGROUND:Infants whose mothers had low serum pregnancy-associated plasma protein-A (PAPP-A) in the first trimester were observed to have intrauterine growth retardation. AIM:Suggesting that PAPP-A plays an important role in the availability and activity of insulin-like growth factors (IGFs), which affect growth, we ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2006.10.005
更新日期：2007-07-01 00:00:00
abstract：BACKGROUND AND AIMS:Postural control differs between infants born preterm and full term at 1-3weeks of age. It is unclear if differences persist or alter the development of early behaviors. The aim of this longitudinal study was to compare changes in postural control variability during development of head control and r...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2014.01.006
更新日期：2014-03-01 00:00:00
abstract：:This paper describes the use of automated microscopy to detect fetal erythroblasts in maternal blood. The technology is based on the following approach: (1) the use of centrifugal cytology for the preparation of monolayers; (2) simultaneous staining of fetal hemoglobin (immunoalkaline phosphatase) and chromosome seque...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(96)01829-4
更新日期：1996-12-30 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：BACKGROUND:The Baby Preparation and Worry Scale (Baby-PAWS) addresses expectant mothers' anticipatory worries regarding the transition to parenthood, focusing on practical concerns (i.e., ability to care for the infant, securing childcare, personal wellbeing, and partner involvement). AIMS:The present study describes ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2020.105080
更新日期：2020-08-01 00:00:00
abstract：:Urinary epidermal growth factor (EGF) excretion was studied serially in 36 newborn infants, from 26 to 40 weeks gestation, from birth to three months of age. All infants excreted EGF from birth. Excretion was significantly higher in term infants than in preterm infants at birth; in term infants excretion rose steadily...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(86)90190-8
更新日期：1986-12-01 00:00:00
abstract：:The worst of institutional care was brought to public attention in Romania during the 1990s when pictures of severely deprived and malnourished children were shown around the world. However, many European countries have high rates of young children in institutions, where the physical care of the child predominates, wi...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2012.09.018
更新日期：2012-12-01 00:00:00
abstract：:Magnetic Resonance Imaging is becoming more widely available and increasingly important for imaging the neonatal brain. In newborn infants it poses challenges regarding patient preparation, safety, optimal timing, and sequence optimization. These issues are addressed in this paper and indications for performing neonat...
journal_title：Early human development
pub_type： 杂志文章,评审
doi：10.1016/j.earlhumdev.2008.11.009
更新日期：2009-02-01 00:00:00
abstract：:The aim of this study was to determine whether corticotropin-releasing hormone (CRH) regulates human trophoblast cell growth. The results showed that exogenous CRH significantly stimulated human trophoblast proliferation in first-trimester primary cultures. In vivo, CRH was strongly immunolocalised to cytotrophoblasti...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2004.04.010
更新日期：2004-08-01 00:00:00
abstract：BACKGROUND:Corrected age is typically applied when assessing the development of children born <32 weeks of gestation. There is no consensus as to whether corrected age should be applied when assessing children born late/moderately preterm (LMPT; 32-36 weeks of gestation). AIMS:This study explored the impact of correct...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2016.01.002
更新日期：2016-03-01 00:00:00
abstract：:Doctors are pivotal characters in Star Trek. This paper will review Dr. Julian Bashir, a unique medic who is genetically engineered to superhuman capacities while deliberately designed to have human failings, which he successfully overcomes. His genetic enhancements allow him to excel in whatever he does and although ...
journal_title：Early human development
pub_type： 杂志文章,实务指引
doi：10.1016/j.earlhumdev.2020.104992
更新日期：2020-05-01 00:00:00
abstract：:Serum albumin levels decrease during pregnancy while the concentration of most other maternal serum proteins of hepatic origin remain stable or increase. In a study of 289 women, most maternal characteristics such as race, age, smoking, a history of previous low birth-weight, infant sex and gestational age at delivery...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(93)90178-w
更新日期：1993-10-01 00:00:00
abstract：:The Golgi-Cox method was used to study the maturation of the large pyramidal cells of the Vth cortical layer in three groups of adult rats: one subjected to undernutrition during the first month of life, another throughout the first 2 mth of life, and the last one during gestation and the suckling period. The main alt...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(86)90186-6
更新日期：1986-12-01 00:00:00
abstract：:Fetal cardiac waveform intervals were assessed from fetal magnetocardiogram (FMCG) recordings taken from 59 pregnant women at 17-41 weeks gestation. Beyond 27 weeks' gestation PR and QRS intervals, measured from averaged waveforms, could be obtained from all subjects; however, prior to 21 weeks' gestation the success ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/s0378-3782(98)00100-5
更新日期：1999-04-01 00:00:00
abstract：:A new protocol for structured observation of motor performance in infants, SOMP-I, was applied to 72 neonatally healthy fullterm infants at 0, 2, 4, 6 and 10 months of age. It contains 13 items, formed as ascending scales, consisting of detailed descriptions of motor performance in different body positions and body pa...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(94)01598-J
更新日期：1995-01-30 00:00:00
abstract：BACKGROUND:Prior studies have shown that children with congenital hearing loss have increased rates of behavior disorders. Child hearing loss has also been reported to be associated with increased maternal stress. Little is known about the behavior or the predictors of behavioral outcomes of children with hearing loss ...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/j.earlhumdev.2011.06.006
更新日期：2011-12-01 00:00:00
abstract：:Discrepancies between active and passive muscle power are often seen in pre-term infants over the first year. Generally of a transient nature, they are most obvious in the extensor muscles of the trunk where there is a high active muscle power relative to the passive component. While high active muscle power may not b...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(95)01661-l
更新日期：1995-08-30 00:00:00
abstract：UNLABELLED:The aim of the study was to determine the effect of a low oral dose of erythromycin on whole gastrointestinal transit time [WGTT]. Erythromycin [EM] [1.5 mg/kg, 6 hourly] or placebo was given first over 7 days in a double blind randomized crossover study of 21 preterm infants with feed intolerance. Median [r...
journal_title：Early human development
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0378-3782(01)00191-8
更新日期：2001-12-01 00:00:00
abstract：:To investigate the influence of prematurity and postnatal age on the maturation of the autonomic nervous system function, we analysed heart-rate and heart-rate variability in twelve prematurely born infants (< 37 weeks gestational age) reaching the conceptional age of 37-41 weeks. These neonates were compared with six...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(93)90011-i
更新日期：1993-03-01 00:00:00
abstract：BACKGROUND:Practically all reference curves for Doppler blood flow variables in pregnancy end at 40 weeks. OBJECTIVE:To study fetal and uteroplacental circulatory changes in pregnancies proceeding beyond 43 weeks. STUDY DESIGN:Longitudinal comparisons from 42 to 43 weeks and comparisons with controls at term. MATERI...
journal_title：Early human development
pub_type： 杂志文章
doi：10.1016/0378-3782(96)01736-7
更新日期：1996-09-20 00:00:00
