PubMed Health⌕ Search

Biomedical subjects

M Carlier

Publications and source records attributed to M Carlier.

At least 19 recordsLinked to original sources
PubMed2006

Midline crossing: developmental trend from 3 to 10 years of age in a preferential card-reaching task.

We assessed 110 left-handed and 322 right-handed children aged from 3 to 10 years, using Bishop's card-reaching task. Manual body midline crossings were observed. A regular developmental trend was observed from 3 to 10 years: older children crossed the body midline more frequently when reaching for cards than did younger children. The factor age explained 4.9% of the variance. Significant differences appeared between 3-4 years old children and 8-10 years old children. The effect of the spatial position of the cards was also significant: the contralateral hand was used less often to reach cards at the most extreme positions. These findings in this task demonstrate that the development of the degree of handedness follows a long developmental trend.

Brain↗
PubMed2005

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females. Our study confirms that cerebellar hypoplasia is a hallmark of this syndrome. In addition, affected males display facial similarities that can help the diagnosis. Most carrier females have mild mental retardation and subtle facial changes.

Cytoskeletal Proteins↗
PubMed2001

Sensory and motor development in mice: genes, environment and their interactions.

Sensory and motor developmental tests were designed to characterize spontaneous mutations in rodents. These tests are currently used to investigate developmental abnormalities associated with gene overexpression or gene targeting in mice. Here, we present an overview of our studies focused on 15 tests designed to measure sensory and motor development from birth to weaning in mice. Psychometric characteristics and factorial structure of these measures are considered first. The genetic correlates of these measures obtained with neurological mutants and gene mapping are compared. As a general rule, the contribution of genotype to the phenotypic variance of sensory and motor measures of development is low, inviting exploration of other sources of variation. Results from ovary transplantation, embryo transfer and fostering methods indicate that different components of maternal environment (cytoplasmic, uterine or postnatal) contribute to the behavioral phenotype. Although more difficult to detect, interactions between genotype and environment are involved.

Animals↗
PubMed2001

What can be learned from a lattice analysis of a laterality questionnaire?

In order to develop a genetic study of human laterality, we conducted an exploratory study concerning one aspect of this phenotype: lattice analysis was used to determine whether the structure of manual preference was the same for right- and left-handers. The study highlights the links between two sets - participants and actions - describing binary data, by ordering them "dually" along a "Galois lattice": participants were ordered according to subsets of actions for which they used only their writing hand, while actions were ordered according to sub-groups using their writing hand to perform them. The twelve item questionnaire of Annett was analysed in two samples of 94 adult right-hand and 31 left-hand writers. The items did not have the same categorical impact for the two groups of left- and right-hand writers. The behaviour of right-handers appeared globally more stereotyped. On the contrary, left-handed profiles were nearly all distinct. To explore these conclusions more thoroughly in the general population would certainly require greater samples. Nevertheless in both cases the observed structures were highly dimensional, a result that would grow stronger as the group sizes increase. Hence whereas some questionnaires purport to evaluate laterality along an unidimensional continuum, the present analysis questions such a strong assumption providing evidence to the contrary.

Adolescent↗
PubMed2001

Role of the serotonin transporter gene in the behavioral expression of autism.

The promoter polymorphism of the serotonin transporter gene (HTT, locus SLC6A4) is of special interest in autism given the well-replicated platelet hyperserotonemia of autism, treatment effects of serotonin reuptake inhibitors, and the role of serotonin in limbic functioning and neurodevelopment. Parent-offspring transmission of the long (l) and short (s) alleles of the deletion/insertion polymorphism in the HTT promoter region was examined in families of 71 children with autism using the transmission test for linkage disequilibrium (TDT). Transmission of HTT promoter alleles did not differ between probands with autism and their unaffected siblings. However, allelic transmission in probands was dependent upon severity of impairments in the social and communication domains, with greater s allele transmission in severely impaired individuals and greater l transmission in mild/moderately impaired individuals. This relationship between HTT promoter alleles and severity of autistic impairment was also seen when ratings of social and communication behaviors were compared across genotypes. The data indicate that HTT promoter alleles by themselves do not convey risk for autism, but, rather, modify the severity of autistic behaviors in the social and communication domains. The results require replication and, given the size of the groups and subgroups examined, must be considered still preliminary. The results suggest that future research on the genetics of autism should carefully assess each of the major behavioral domains and seriously consider the possible role of modifying loci.

Adolescent↗
PubMed2001

NO reburning study based on species quantification obtained by coupling LIF and cavity ring-down spectroscopy.

NO reburning is studied in a low pressure (15 hPa) premixed flame of CH4-O2 seeded with 1.8% of NO. Measurements were carried out by using cavity ring-down spectroscopy (CRDS) and laser induced fluorescence (LIF) techniques. The temperature profile was obtained by OH-LIF thermometry in the A-X (0-0) band. The OH profile was determined by LIF and calibrated by single pass absorption. The NO concentration profile was obtained by LIF in the A-X (0-0) band and corrected for Boltzmann fraction and quantum yield variations. The absolute concentration profile was determined in the burned gases by CRDS allowing a direct experimental determination of the NO reburning amount. Finally CH and CN mole fraction profiles were obtained by CRDS by exciting rotational transitions in the B-X (0-0) bands of CH and CN around 387 nm. We found a peak mole fraction of 29 ppm for CH and 3.3 ppm for CN. This last result is in contrast with a previous study of W. Juchmann, H. Latzel, D. L. Shin, G. Peiter, T. Dreier, H. R. Volpp, J. Wolfrum, R. P. Lindstedt and K. M. Leung, XXVIIth Symposium (International) on Combustion, The Combustion Institute, Pittsburgh, 1998, p. 469, performed in a similar flame, which reported much lower levels of CN. In that study the absolute concentration of CN was indirectly obtained by LIF calibrated by Rayleigh scattering. In a second part, experimental species profiles are compared with predictions of the GRI 3.0 mechanism. Comparison between experimental and predicted profiles shows a good agreement particularly for CN and NO species. A qualitative analysis of NO reburning is then performed.

Journal Article↗
PubMed2000

The interaction between lipid derivatives of colchicine and tubulin: consequences of the interaction of the alkaloid with lipid membranes.

Colchicine is a potent antimitotic poison which is well known to prevent microtubule assembly by binding tubulin very tightly. Colchicine also possesses anti-inflammatory properties which are not well understood yet. Here we show that colchicine tightly interacts with lipid layers. The physical and biological properties of three different lipid derivatives of colchicine are investigated parallel to those of membrane lipids in the presence of colchicine. Upon insertion in the fatty alkyl chains, colchicine rigidifies the lipid monolayers in a fluid phase and fluidifies rigid monolayers. Similarly X-ray diffraction data show that lecithin-water phases are destabilized by colchicine. In addition, an unexpectedly drastic enhancement of the photoisomerization rate of colchicine into lumicolchicine in the lipid environment is observed and further supports insertion of the alkaloid in membranes. Finally the interaction of colchicine with lipids makes the drug inaccessible to tubulin. The possible in vivo significance of these results is discussed.

Colchicine↗
PubMed2000

Multicenter registry to evaluate the efficacy of the NIROYAL stent in de novo or restenotic coronary stenosis.

The purpose of this registry was to document the safety and efficacy of elective deployment of the NIROYAL stent (Boston Scientific SCIMED, Maple Grove, Minnesota) in coronary arteries. This was a prospective, multi-center international registry. NIROYAL stents (9, 16, 25 and 32 mm-long) were manually crimped onto coronary balloons and deployed in de novo or restenotic lesions in 165 male and female patients with angina pectoris and a reference vessel diameter of 2.0-4.5 mm. Stent deployment was successful in 98.8% of the lesions. Mean percent diameter stenosis decreased from 83.5+/-10.8% to 2.7+/- 6.2% after intervention. The interventional procedure of the treatment site was successful in 97.6% of patients. At six-month clinical follow-up, 88.5% had event-free survival [i.e., did not experience a major adverse cardiac event (MACE)] and 95.2% had no anginal symptoms. Furthermore, 87.3% of the patients were free of target vessel failure (defined as a composite of acute procedural failure, target vessel revascularization, myocardial infarction or death at six months). Only three MACE were observed within the first 30 days after stent implantation. A low left ventricular ejection fraction and the percentage stenosis pre-procedure were identified as statistically significant (p<0.05) predictive factors for MACE. The incidences of MACE and target vessel failure after six months follow-up were lower than that seen in other studies, and target lesion revascularization rates were low.

Adolescent↗
PubMed1999

Is mitochondrial DNA involved in mouse behavioral laterality?

The genetic effect of mitochondrial DNA (mtDNA) on behavioral laterality was investigated in a quartet of strains of laboratory mice congenic for mtDNA. The pattern of restriction of mtDNA differed in NZB/BINJ and CBA/H mice. Their respective congenics for mtDNA were developed until the 22nd generation. This quartet was tested under three independent conditions involving fore- and hind paw preference or performance (laterality tests) and body orientation. Evidence for the implication of mtDNA was observed on direction of laterality in two test conditions and on degree of laterality in the three test conditions.

Animals↗
PubMed1999

Genetic correlation between steroid sulfatase concentration and initiation of attack behavior in mice.

The pairing region of the X-Y chromosomes recombines at male meiosis. We previously found that offense behavior in male mice, measured by initiation of attack against a conspecific male, was linked to this region. Only one functional gene (coding for steroid sulfatase or Sts) is mapped on this region as of yet, suggesting that it could be a candidate for offense behavior. We estimated the genetic correlation between the concentration of STS protein in the liver and the initiation of attack behavior in 11 strains of inbred mice. The high correlation (close to reliability) coefficient of the behavioral phenotype indicates the implication of STS in offense behavior. Recent investigations have demonstrated the involvement of STS in neurosteroid biochemical pathways, and several lines of evidence indicate that neurosteroids interact with neurotransmitters. These conclusions and our present results support the hypothesis that sulfatation of steroids may be the prime mover of a complex network, including genes shown to be implicated in aggression by mutagenesis.

Aggression↗
PubMed1999

Long-term effect of placental type on anthropometrical and psychological traits among monozygotic twins: a follow up study.

The long-term effect of differences in placentation in MZ twins is a controversial subject. An effect has been clearly established for birth weight but data on psychological traits are still under debate. We studied 20 pairs of monochorionic MZ (MC MZ) and 24 pairs of dichorionic MZ (DC MZ) twins. A chorion effect was observed for Block Design (WISC-R) confirming a previous report: MC MZ co-twins were more similar that DC MZ co-twins. For anthropometrical measures, an expected effect in the opposite direction was found. No chorion effect was significant for the other variables. A follow up was undertaken 3 years later using cognitive, national academic evaluations, and personality variables. The sample included 16 pairs of MC MZ and 22 pairs of DC MZ twins. Again a chorion effect was observed on anthropometrical variables but results on the Block Design were not replicated. However, the MC MZ co-twins were more similar than the DC MZ co-twins for two other cognitive variables: Perceptual Organization Index from the WISC-R and Global Visualisation from a Belgian reasoning test. Among the personality variables only one was sensitive to a chorion effect. The discussion focuses on the need for larger samples to achieve adequate power in statistical comparisons.

Adolescent↗
PubMed1999

Procedure to extract a weekly pattern of performance of human reaction time.

A study of reaction time in six tests (speed of simple identification, simultaneous and sequential letter identification, simultaneous and sequential stimulus word matching, and semantic verification) was carried out on 130 children aged 7 to 12 years. Subjects were tested Monday, Tuesday, Thursday, and Friday, using a cross-sectional design. The answers to each of the tests are binary in nature (Yes/No) measured by the recording of a click one of the two buttons of a microcomputer. Controlled variables were age, failure, sex, and day of test. The greatest percentage of the variance produced by the data was due to the age (typically 25%). The percentage attributable to the "day of test" (typically 5%) is hence masked by the variance due to the other factors. The method proposed herein makes it possible to isolate the percentage of the variance for the variable "day of test" alone and to provide evidence for a circaseptan effect on reaction time. It used a regressive correction on predominant variables. This effect shows performance is best on Thursday and weakest on Monday, the amplitude of the weekly rhythm being related to the task.

Achievement↗
PubMed1999

Hemodynamic changes in patients with Alagille's syndrome during orthotopic liver transplantation.

UNLABELLED: Children with Alagille's syndrome are at increased perioperative risk during orthotopic liver transplantation due to the cardiopulmonary abnormalities and the hemodynamic changes associated with this procedure. We studied 16 children with Alagille's syndrome who underwent 21 orthotopic liver transplantations. Peripheral pulmonary stenosis was present in all subjects. Right ventricular pressures were increased in 15 cases. Caval clamping resulted in a mean decrease of 15 +/-9 mm Hg in systolic blood pressure, 5 +/- 3 mm Hg in mean pulmonary artery pressure, and 4 +/- 3 mm Hg in central venous pressure. Systolic blood pressure decreased by 16 +/- 13 mm Hg, whereas mean pulmonary artery pressure and central venous pressure increased by 3 +/- 4 mm Hg and 1 +/- 4 mm Hg, respectively, at portal vein unclamping. There was no correlation between severity of pulmonary artery stenosis and hemodynamic changes. Veno-venous bypass used in four cases resulted in smaller hemodynamic changes. Time to extubation and duration of intensive care unit stay were unrelated to severity of pulmonary artery stenosis. IMPLICATIONS: Some children with Alagille's syndrome require liver transplantation. In our study, associated pulmonary artery stenosis did not dramatically increase perioperative risk. Veno-venous bypass decreased intraoperative hemodynamic changes in these patients.

Alagille Syndrome↗