[Oculocerebrocutaneous syndrome or Delleman-Oorthuys syndrome].
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Abnormalities, Multiple↗
Biomedical subjects
D Allard
Publications and source records attributed to D Allard.
Is absence of atheroma in Down syndrome due to decreased homocysteine levels?
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Arteriosclerosis↗
A highly polymorphic locus very tightly linked to the Huntington's disease gene.
The genetic defect in Huntington's disease (HD), an inherited neuropsychiatric disorder of unknown etiology, has not been defined. The discovery of linkage between HD and the DNA marker D4S10(G8) raised the possibility of isolating the disease gene on the basis of its chromosomal location, in addition to providing a limited presymptomatic test for the late onset disorder. But it has been difficult to isolate other DNA markers nearer to the HD gene, and this has hampered attempts to identify the disease locus and limited the applicability and accuracy of predictive testing. Recently, several new DNA markers from the region of the genome near the HD gene have been isolated using a directed cloning strategy. We describe here the characterization of one of these new markers, D4S95, a highly polymorphic locus which displays no recombination with the HD gene in the families tested. The high degree of polymorphism at this locus and its proximity to the HD gene make it extremely useful for predictive testing and as a new starting point for attempts to clone the disease gene.
Alleles↗
Major rearrangement of cellular DNA in the vicinity of integrated polyomavirus DNA.
The Cyp cell line was produced by transforming mouse embryo cells at the restrictive temperature with an early thermosensitive mutant of polyomavirus (Py). Transfer of Cyp cells to the nonrestrictive temperature causes excision to occur at a single chromosomal site carrying viral DNA, and leads to the production of infectious virus. We have attempted to elucidate the recombination event that occurred during the integration of Py DNA in this inducible line. Physical characterization of two recombinant DNAs-one selected from a genomic library of normal mouse DNA and the other constructed from the unoccupied allele of the Cyp integration site-indicates that generation of the Cyp line has involved the joining of not only viral DNA to a cellular alpha site, but also the cellular alpha site to a cellular alpha site to cellular beta site. Hence, previously described hybrid excision products from the Cyp line were made of mouse DNA segments representing two distinct cellular sites. The alpha-beta joining may play a role in the expression of integrated Py DNA.
Animals↗
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene.
A polymorphic marker (D4S62) that is genetically closely linked to D4S10 and is in the region of the gene for Huntington disease is described. A four-allele polymorphism is detected when HincII-digested DNA is hybridized with D4S62. D4S62 maps, by Southern blot analysis using somatic-cell hybrids, to 4p16.1 closer to the centromere than does D4S10. The use of the polymorphisms detected by D4S62 increases the informativeness of markers close to the gene for Huntington disease and will be useful for preclinical diagnosis. D4S62 detects transcripts of approximately 6,000 nucleotides in rat, mouse, and monkey liver and brain. This represents the first demonstration of conserved expressed sequences close to the gene for Huntington disease.
Alleles↗
Improved predictive testing for Huntington disease by using three linked DNA markers.
Eighty-five persons at risk for Huntington disease (HD) have enrolled in a predictive-testing pilot program. Informativeness of the test has been determined for 41 of these candidates by using linked DNA probes. Nine (21.9%) of these persons have been excluded from the test as a result of the unavailability of DNA from crucial family relatives. Homozygosity for all of the three DNA markers (D4S10, D4S62, and D4S95) was not found in any affected parent. Only one (2%) of the 41 test candidates has had an uninformative result. Results have been given to 20 persons, of whom 12 (60%) received a decreased risk and eight (40%) received an increased risk of having inherited the mutant gene for HD. The combined use of three DNA markers significantly increases the informativeness of family structures such that some change in the estimation of genetic risk is now possible for approximately 75% of all persons who request predictive testing.
Adult↗
[Determination of total serum triiodothyronine in hyperthyroidism: comparison of fluorescence polarization and immunoenzymology].
We evaluated the performances of the Abbott fluorescence polarization assay (FPIA) utilizing the TDx system for human total triiodothyronine (T3) in hyperthyroidism. We compared the results with an immunoenzymometric assay (IEA) (Enzymum Test T3 Boehringer-Mannheim). Greatest attention was focused on the diagnosis of hyperthyroidism because detection of subclinical hyperthyroidism is important. The repeatability of the Abbott fluorescence polarization assay was satisfying (m = 8.07 +/- 0.37 nmol.l-1, CV = 4.59%). The reproducibility was tested with Abbott control sera: m = 4.58 +/- 0.53 nmol.l-1 and CV = 11.5 per cent for level M; m = 7.95 +/- 0.66 nmol.l-1 and CV = 8.23 per cent for level H; m = 2.38 +/- 0.39 nmol.l-1 and CV = 16.5 for level L. The correlation of results of the Abbott assay with those of the Boehringer assay was good for samples from hyperthyroid patients. Values for hyperthyroid and euthyroid subjects were resolved slightly better with the Abbott FPIA than with Boehringer IEA. The Abbott total T3 fluorescence polarization assay may have an additional role to play in monitoring thyroid function in patients under iodine treatment (amiodarone) to eliminate a secondary hyperthyroïdism.
Fluorescence Polarization↗
[Exploratory analysis of mental health in an unemployment situation : the case of workers in the manufacturing sector of eastern Montréal (Part 1).].
The objectives of this research are to take the inventory of the psychosocial mechanisms that promote the unemployed individual's equilibrium, and to draw the profile of mental health practices existing in a homogenous group of unemployed persons in the manufacturing sector. In the first part, the authors review the methodology used in the course of their study and present a global analysis of the daily experiences of unemployed individuals, by showing the means they have put into effect to ensure their subsistance and that of their family. The second part seeks to provide an original viewpoint to the issue of mental health. The analysis includes an inventory of mental health practices followed by a brief description of techniques used to establish mutual aid networks.
English Abstract↗
[Exploratory analysis of practices in mental health in an unemployment situation : the case of workers in the manufacturing sector of Eastern Montréal (Part 2).].
In this article, the authors present results stemming from the exploratory analysis of mental health practices that are used by a group of unemployed workers. The study presents five types of practices: the enhancement of the unemployed individual's experience, institutional consultation within the health care system, anticipation, self-actualization and changes to the unemployment situation. These various mental health practices, demonstrated among a homogenous group of unemployed individuals in the manufacturing sector, promote a wider reflexion of intervention methods.
English Abstract↗
Plasma fibronectin levels in normal subjects.
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Adolescent↗
[Formation of images in echotomography].
The authors describe shortly how ultrasounds are produced and which phenomena are observed when they pass through alive tissues: waves propagation, reflexion, refraction and attenuation. The reception of reflective waves (echo) is then shown with the different modes of visualisation of the obtained informations (echotomography A, B or T.M.). It is necessary to know the limits of this technique to obtain the best results.
Echoencephalography↗
[Transfontanelle cerebral echography].
Cerebral transfontanelle ultrasonography has been making many progress for ten years, with the grey scale of new echographs. We report here our experience. The technique is now standardized: we use a high resolution realtime scanner with a 5 MHz transducer placed directly over the fontanella. The flexible cable permits the examination of preterm infants in incubator. After the description of normal echoanatomy, we give examples of the most frequent pathology observed: hydrocephalus, intracranial haemorrhage, periventricular leukomalacia, corpus callosum lipoma, brains dysraphism, Dandy Walker malformation.
Brain↗
Cystathionine beta synthase: gene dosage effect in trisomy 21.
The enzymatic activity of cystathionine beta synthase has been studied in fibroblasts of nine patients with regular trisomy 21. An excess of CBS activity was found in trisomy 21 with a trisomy 21/normal ratio equal to 1.66. A 1.04 ratio was found in 21q21----21 p ter monosomy; a 1.04 and 0.99 ratio was found in two 21 qter----21q22.3 monosomies; a 1.14 ratio in 21 qter----21q22 monosomy; a 0.89 ratio in a 21q21----21 pter trisomy; an excess of CBS activity was found in a 21q22.1 ----21q21 trisomy with a 1.57 ratio. These results show a gene dosage effect in human fibroblasts trisomic for chromosome 21 and suggest the assignment of human CBS locus between 21q22.1 and 21q21.
Adolescent↗
[Effects of gene localization and its metabolic significance in trisomy 21].
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Chromosome Mapping↗
Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21.
Among several cases of partial monosomies and full and partial trisomies 21, the enzymatic activity of phosphofructokinase (PFK) is increased only in 21q21----21pter trisomy with a (T21/N) ratio equal to 1.35 and decreased in monosomy 21q21----21pter. These results suggest that the human gene for liver-type PFK is located between 21q21 and 21pter.
Adolescent↗
Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.
The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21. An excess of GARS activity was found in regular trisomy 21 with a trisomy 21/normal ratio equal to 1.55. A 0.99 ratio was found in 21q21----21pter monosomy; a 0.54 ratio was found in 21qter----21q22 monosomy; a 0.88 ratio, in 21q21----21pter trisomy, and a 1.46 ratio, in 21q22.1 trisomy. Consequently, the GARS gene locus, assigned to chromosome 21, could be localized in subband 21q22.1.
Adolescent↗
A mouse DNA sequence that mediates integration and excision of polyoma virus DNA.
In mouse cells transformed by a temperature-sensitive polyoma virus (Py) genome, the integrated viral genome recombines with adjacent chromosomal DNA to yield a small cyclic molecule (RmI) with defined viral and cellular components. We have cloned the cellular component (Ins), determined its sequence, and examined its distribution in normal mouse DNA. The sequence of Ins displays several homologies with that surrounding the replication origin (ori) of Py or SV40 DNA.
Animals↗
[Acute respiratory and circulatory failure. Prognostic value of plasma fibronectin levels].
Plasma fibronectin (FNp) concentrations were measured in 63 patients with acute respiratory failure and 28 patients with circulatory failure, using Laurell's electroimmunoassay method. Measurements were made in the acute phase and repeated in the course of the disease. The mean FNp concentration in 20 controls was 262 +/- 59 mg/l. FNp values were normal in the acute phase of chronic obstructive pulmonary disease and in cardiogenic pulmonary oedema. In contrast, they were significantly decreased in adult respiratory distress syndrome and in acute pneumonia, as well as in acute circulatory failure, notably from septic shock. FNp values were also considerably reduced in patients with severe disseminated intravascular coagulation syndrome. Clinical improvement was accompanied by a return to normal of FNp concentrations. The mortality rate was greater in patients with low FNp values than in those with normal values.
Acute Disease↗