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Biomedical subjects

C Poirier

Publications and source records attributed to C Poirier.

54 records · Page 3Linked to original sources
PubMed1995

The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13.

Analysis of polymorphic markers segregating in both intra- and interspecific crosses has allowed us to map the autosomal recessive mutation progressive motor neuronopathy (pmn) to mouse Chr 13. Although this mutation, based on its histological description, was reported as a model for infantile spinal muscular atrophy of the Werdnig-Hoffmann type, its localization to a region that is not homologous with human 5q makes it unlikely to be a homologue to SMA. The presence of the Extra-toe (Xt) locus in proximity to pmn will help in the detection of affected progenies before the onset of the degenerative process.

Animals↗
PubMed1995

The mouse Fau gene: genomic structure, chromosomal localization, and characterization of two retropseudogenes.

The Fau gene is the cellular homolog of the fox sequence of the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). FBR-MuSV acquired the Fau gene by transduction in a transcriptional orientation opposite to that of the genomic Fau gene. The genomic structure of the mouse Fau gene (MMFAU) and its upstream elements have been determined and are similar to those of the human FAU gene. The gene consists of five exons and is located on chromosome 19. The first exon is not translated. The promoter region has no well-defined TATA box but contains the polypyrimidine initiator flanked by regions of high GC content (65%) and shows all of the characteristics of a housekeeping gene. The 5' end of the mRNA transcript was determined by 5' RACE analysis and is located, as expected, in the polypyrimidine initiator site. Furthermore, the sequences of two retropseudogenes (Fau-ps1 and Fau-ps2) are reported. Both pseudogenes are approximately 75% identical to the Fau cDNA, but both are shorter due to a deletion at the 5' end and do not encode a functional protein. Fau-prs is interrupted by an AG-rich region of about 350 bp within the S30 region of the Fau cDNA. Fau-ps1 was localized on chromosome 1 and Fau-ps2 on chromosome 7.

Animals↗
PubMed1995

The mouse mutation muscle deficient (mdf) is characterized by a progressive motoneuron disease.

Muscle deficient (mdf) is an autosomal-recessive mutation mapped to mouse chromosome 19. The clinical phenotype and the muscle histopathology, briefly described in 1980, and the nervous system histopathology are detailed in the present study. Homozygotes develop a posterior waddle at 4 to 8 weeks of age. Soon thereafter, the hindlimbs become paralyzed and weakness appears in forelimbs, leading to a serious disability. The disease progresses slowly and the mean lifespan is reduced to 8 months. Skeletal muscles exhibit a neurogenic atrophy with signs of reinnervation. Peripheral nerves display axonal degeneration. Neurons within the spinal cord ventral horn, and some motor nuclei of the brain stem, are affected by a cytoplasmic vacuolar degeneration. Ascending and descending spinal cord tracts appear normal. An astrogliosis, restricted to the ventral horn of the spinal cord, occurs in mdf/mdf mice of 10 weeks of age. These clinical and histological features are indicative of a progressive motor neuronopathy. Among the murine spinal muscular atrophies, the programmed cell death of the mdf motoneurons is morphologically similar to wobbler. Because of the long time course, the mdf mutation may represent a valuable tool for understanding juvenile motoneuron diseases with chronic evolution, even though the murine locus is not syntenic with the human ones.

Animals↗
PubMed1995

[Treatment of refractory glaucoma with Nd:YAG laser cyclophotocoagulation].

We treated 54 eyes of 51 patients with refractory glaucoma by using contact transscleral Neodymium: YAG laser cyclophotocoagulation; 32 burns (7 watts during 0.7 second) were applied to each eye by positionning the anterior edge of the probe at 0.5 to 1 mm from the limbus. The mean preoperative intraocular pressure (IOP) was 33.7 mmHg and the mean postoperative IOP was 25.6 mmHg with a follow-up of five months. There was a decrease of IOP in 72.3% of the cases. The postoperative IOP was controlled (IOP < 21 mmHg) in 41.3% of the treated eyes. Pain decreased in 6.7% of the cases that had no control of IOP and they could stop their medical treatment. During the follow-up period we observed neither early post operative hypertonia nor phtisis bulbi. Three eyes had scleral perforations. Laser treatment can be repeated if necessary in no controlled IOP cases. We had less complications with the laser treatment than with cyclocryoapplication. We described the advantages of the contact probe used.

Adult↗
PubMed1994

Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm.

The mouse ruby eye (ru) and pale ear (ep) pigment dilution genes cause platelet storage pool deficiency (SPD) and prolonged bleeding times. The brachymorphic (bm) gene, in addition to causing skeletal abnormalities, is also associated with prolonged bleeding times. All three hemorrhagic genes are found within 10 cM on Chromosome (Chr) 19. In this study, 15 microsatellite markers and five cDNAs, spanning 21 cM of Chr 19, were mapped in relation to the bm, ep, and ru genes in 457 progeny of an interspecific backcross utilizing the highly inbred strain PWK derived from the Mus musculus musculus species. Several markers were found to be closely linked to the three genes and should be useful as entry points in their eventual molecular identification.

Animals↗
PubMed1993

Tetanus--Ontario.

Explore the source record for details and available documents.

Agricultural Workers' Diseases↗
PubMed1992

A new strategy useful for rapid identification of microsatellites from DNA libraries with large size inserts.

Microsatellites are new powerful polymorphic markers used for gene mapping. Their characterization requires that all the sequence surrounding the repeat be known in order to be able to design primers for PCR amplification. However, when using DNA libraries with large cloned inserts, this sequence characterization is not immediately practicable. In this paper, we describe a new strategy, based both on the use of a microsatellite specific probing and on the creation of nested deleted clones with the Exonuclease III, in order to position microsatellites in a range allowing direct sequencing. This method was applied to the screening of a mouse chromosome 19 DNA specific library. In this way, thirteen clones were identified by specific probing and seven were submitted to the nested deletion strategy. Five of them presented microsatellite sequences in specific deleted subclones which were selected and sequenced. Primers were designed for each of them and polymorphism between the genomes of several inbred strain of mouse have been determined. These microsatellites were mapped, three of them to chromosome 19 and two to chromosome 11.

Animals↗
PubMed1986

Health hazards associated with windsurfing on polluted water.

We documented the risks associated with windsurfing on sewage polluted water. Seventy-nine windsurfers and 41 controls were studied over a nine-day period for occurrence of symptoms of gastroenteritis, otitis, conjunctivitis, and skin infection. Relative risks were 2.9 for occurrence of one or more of these symptoms and 5.5 for symptoms of gastroenteritis. Relative risk increased with the reported number of falls into the water.

Epidemiologic Methods↗
PubMed1978

Importance of mixed venous oxygen saturation in the care of critically ill patients.

The relation between mixed venous oxygen saturation and cardiac index was determined in 11 children who underwent surgical treatment for congenital heart disease. The correlation between these two variables was found to be reliable (r = 0.78, P = 0.001). The simple determination of mixed venous oxygen saturation performance, particularly when sophisticated equipment for measuring cardiac output is not available.

Cardiac Output↗