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G Imbert

Publications and source records attributed to G Imbert.

33 records · Page 2Linked to original sources
PubMed1994

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome.

Adult↗
PubMed1993

Origin of the expansion mutation in myotonic dystrophy.

Myotonic dystrophy (DM) is caused by the expansion of a CTG trinucleotide repeat. The mutation is in complete linkage disequilibrium with a nearly two-allele insertion/deletion polymorphism, suggesting a single origin for the mutation or predisposing mutation. To trace this-ancestral event, we have studied the association of CTG repeat alleles in a normal population to alleles of the insertion/deletion polymorphism and of a (CA)n repeat marker 90 kilobases from the DM mutation. The results strongly suggest that the initial predisposing event(s) consisted of a transition from a (CTG)5 allele to an allele with 19 to 30 repeats. The heterogeneous class of (CTG)19-30 alleles which has an overall frequency of about 10%, may constitute a reservoir for recurrent DM mutations.

Alleles↗
PubMed1992

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutations have a high risk of transition to full mutation when transmitted by a female. We have used direct detection of the mutations to characterise large families who illustrate the wide variation in penetrance which has been observed in different sibships (a feature often called the Sherman paradox). A family originally found to show tight genetic linkage between the factor 9 gene and the fragile X locus was reanalysed, confirming the original genotype assignments and the observed linkage. The size of premutations was measured by Southern blotting and by using a PCR based test in 102 carrier mothers and this was correlated with the type of mutation found in their offspring. The risk of transition to full mutation was found to be very low for premutations with a size increase (delta) of about 100 bp, increasing up to 100% when the size of premutation was larger than about 200 bp, even after taking into account (at least partially) ascertainment bias. These results confirm and extend those reported by Fu et al (1991) and Yu et al (1992) and explain the Sherman paradox.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1992

A system for saturating in vitro preparations with high pressure O2, He, H2, and mixtures.

Saturation of a liquid with gas before perfusing a tissue or cellular preparation under pressure can be achieved by bubbling the gas through the liquid. A container for this purpose that is housed in the pressure chamber with the preparation allows saturation of the liquid under hyperbaric conditions. Sealing the container allows saturation with a gas different from the gas used to compress the pressure chamber. If the pressure within the sealed container is maintained at a slightly higher level, the bubbling gas can also provide the driving force for the liquid to flow to the preparation. Based on this concept, an apparatus was built and tested to pressures of 6.8 MPa. This paper describes the saturator and the associated circuitry used to control bubbling gas pressure relative to the pressure vessel, gas flow through the saturator, and liquid flow to the preparation. A special application in the case of hydrogen gas is described, where this system has added safety advantages.

Equipment Design↗
PubMed1991

[Survey during 4 years of the infestation level of the tick Ixodes ricinus (acari Ixodidae) by Borrelia burgdorferi, the agent of Lyme borreliosis, in 2 forests in Brittany].

The authors followed, during 4 years consecutively, from 1987 to 1990, by immunofluorescence, the frequency of B. burgdorferi in an amount of 677 nymphs of I. ricinus tick, collected fasting by flagging in 2 forests in Brittany (France). Percentages obtained in each of these forests do not reveal significative differencies statistically and seem to show a relative stability, from one year to the following, during the considered period, of the infestation levels in ticks.

Animals↗
PubMed1987

A versatile chamber for microphysiologic studies with gas mixtures under high pressure.

A pressure chamber, designed for microelectrode recordings in isolated tissues or organs an capable of withstanding pressures up to 200 bar, is described. The versatility of the vessel allows a wide variety of experimental configurations and several types of studies. It features a complete access, easy visibility, interchangeable tissue bath and micromanipulator modules, as continuous perfusion and temperature control of the preparation under pressure. The ability to move micropipettes in 1-micron steps allows single unit recording on a variety of in vitro preparations at normal or elevated gas pressures. Successful physiologic tests, using the hippocampal slice preparation, are described. The results testify to the reliability of the system and to the usefulness of this in vitro model to study the gas pressure effects on isolated networks of mammalian CNS.

Air Pressure↗
PubMed1982

The compressibility and the capacitance coefficient of helium-oxygen atmospheres.

The capacitance coefficient beta of an ideal gas mixture depends only on its temperature T, and its value is derived from the ideal gas law (i.e., beta = 1/RT, R being the ideal gas constant). But real gases behave as ideal gases only at low pressures, and this would not be the case in deep diving. High pressures of helium-oxygen are used in human and animal experimental dives (up to 7 or 12 MPa or more, respectively). At such pressures deviations from the ideal gas law cannot be neglected in hyperbaric atmospheres with respect to current accuracy of measuring instruments. As shown both theoretically and experimentally by this study, the non-ideal nature of helium-oxygen has a significant effect on the capacitance coefficient of hyperbaric atmospheres. The theoretical study is based on interaction energy in either homogeneous (He-He and O2-O2) or heterogeneous (He-O2) molecular pairs, and on the virial equation of state for gas mixtures. The experimental study is based on weight determination of samples of known volume of binary helium-oxygen mixtures, which are prepared in well-controlled pressure and temperature conditions. Our experimental results are in good agreement with theoretical predictions. 1) The helium compressibility factor ZHe increases linearly with pressure [ZHe = 1 + 0.0045 P (in MPa) at 30 degrees C]; and 2) in same temperature and pressure conditions (T = 303 K and P = 0.1 to 15 MPa), the same value for Z is valid for a helium-oxygen binary mixture and for pure helium. As derived from the equation of state of real gases, the capacitance coefficient is inversely related to Z (beta = 1/ZRT); therefore, for helium-oxygen mixtures, this coefficient would decrease with increasing pressure. A table is given for theoretical values of helium-oxygen capacitance coefficient, at pressures ranging from 0.1 to 15.0 MPa and at temperatures ranging from 25 degrees C to 37 degrees C.

Atmospheric Pressure↗
PubMed1976

Breath-to-breath variations of alveolar Po2 and Pco2 at barometric pressures of 490, 745 and 1500 Toor in resting awake dogs.

Two awake, resting dogs born and raised at low altitude were studied, breathing air (1) at 745 torr, (2) during a 12 days sojourn at 490 torr in an altitude chamber, and (3) during 5 days sojourn at 1500 torr in a hyperbaric chamber. The respired gas was continuously sampled an end-tidal PCO2 and PO2 of sequences of thirty breaths were measured by fast analyzers. The mean value of alveolar PCO2 was 29 torr at high altitude; 35 torr at 745 torr; and 40 torr in hyperbary. The changes of PCO2 indicate different alveolar ventilations which result mainly from the changes of the chemoreceptor drive which is enhanced at high altitude and decreased in hyperbary. The scattering of PCO2 is about the same at the three pressures. The scattering of PO2 is less at high altitude than at sea level, and less at sea level than in hyperbary. On a PCO2 vs PO2 diagram end-tidal PCO2 and PO2 points form elliptical clouds whose mean slopes decrease with the increase of total pressure. The characteristics of the dispersion of the alveolar pressures and of the slopes of the alveolar clouds depend on several factors among which the relevant steepness (i.e. capacitance) of the O2 and CO2 blood abosrption curves at the three pressures presumably plays the major role.

Altitude↗