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Biomedical subjects

M Mathieu

Publications and source records attributed to M Mathieu.

At least 55 records · Page 3Linked to original sources
PubMed1989

Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk CF family.

A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600.

Blotting, Southern↗
PubMed1989

Compared effects of isoxicam and indomethacin on the urinary excretion of prostaglandins in degenerative articular diseases.

The effects of a 7 day-treatment with isoxicam (200 mg/24 h) on the urinary excretion of prostaglandins (PG) were compared to those of indomethacin (150 mg/24 h) in a double-blind randomized study conducted in 18 patients with degenerative arthritic disease and normal renal function. Indomethacin decreased the urinary excretion of PGF2 alpha by about 70% and 6-keto-PGF1 alpha and thromboxane (Tx)B2, the stable break-down products of prostacyclin and TxA2 respectively, by about 40%. Isoxicam effects on urinary PG did not significantly differ from those of indomethacin. During both treatments, urinary gamma-glutamyl transferase and N- acetyl-glucosaminidase remained stable and none of the changes in the urinary excretion of PGs could be related to either plasma or urinary drug concentrations. In conclusion, chronic administration of isoxicam inhibited the renal PG biosynthesis to a similar extent than indomethacin which suggests that non steroidal anti-inflammatory drugs of the oxicam group ought also be used cautiously in patients with renal impairment.

6-Ketoprostaglandin F1 alpha↗
PubMed1989

[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon].

Enzymatic prenatal diagnosis of cystic fibrosis was performed in 113 amniotic fluids and DNA polymorphism was studied in 104 families, including 28 cases with prenatal material analysis. According to the results, the enzymatic diagnosis should be cautiously interpreted when the risk is less than 1/4. In these situations DNA analysis in the parents is very helpful to assess the reliability of enzymatic diagnosis.

Amniotic Fluid↗
PubMed1989

[Optimization of the determination in urine of alanine aminopeptidase, gamma-glutamyltransferase and N acetyl-beta-D-glucosaminidase].

The authors describe the optimization of determination of alanine aminopeptidase (AAP), gamma-glutamyltransferase (GGT) and N-acetyl-beta-D-glucosaminidase (NAG) in urine by multivariate analysis. The optimal conditions found are: for AAP at 30 degrees C TRIS HCl buffer 300 mmol/l pH 7.9, L-alanine-4-nitroanilide 5.8 mmol/l, for GGT at 30 degrees C buffer glycylglycine 150 mmol/l pH 8.0, gamma-L-glutamyl-3-carboxy-4-nitroanilide 9.0 mmol/l, for NAG at 37 degrees C citrate buffer 50 mmol/l pH 5.8, m cresolsulfonphtaleinyl-N-acetyl-beta-D-glucosaminide 5.5 mmol/l. These methods are easy to perform, apply to urine without pretreatment through Sephadex: therefore complete automatization is possible. The stability of enzymatic activities in urine is of ten days at +4 degrees C in the presence of sodium azide at neutral pH. Freezing resulted in a considerable loss of activity for AAP and GGT.

Acetylglucosaminidase↗
PubMed1989

[Syndrome of compression of the external saphenous nerve (or the sural nerve)].

The authors describe a new canal syndrome, which they call the "superficial sural aponeurosis canal syndrome" or "sural nerve tunnel syndrome". Mostly seen in sportsmen, it was observed in this case in the context of a myositis ossificans circumscripta of the tendo-muscular junction of the heel. The clinical signs are caused by compression of the sural nerve where it passes through a nonextensible tunnel formed by the fold of the posterior sural aponeurosis. This is distinguished from a loge syndrome; the most typical clinical sign is increased pain in the territory of the sural nerve during plantar flexion of the ankle; in this position reduced sensory conduction velocity is measured. The treatment consists in a section of the fibro-aponeurotic arch.

Female↗
PubMed1989

[Lysosomal enzyme deficiency: in vitro correlation of deficient cells using a conditioned medium or by co-culturing with non-deficient cells].

We demonstrate that lysosomal enzyme (alpha-L-fucosidase) can enrich deficient fibroblasts, with purified enzyme brought by the medium, or with an enzyme supply by various cell sources. The co-culture systems lead to a deficient cell correction, whatever donor cells are lymphocytes or lymphoblastoid cells. This correction arise only with alive cells, and is strongly inhibited by mannose-6-phosphate. Our results do not support the hypothesis that cell to cell contact independently of mannose-6-phosphate binding site is necessary for transfer of lysosomal enzyme from lymphocytes to fibroblasts. We suggest that the neighbourhood of cells leads to a phosphorylated precursor increase in the pericellular area, which creates an enzyme stabilizing effect favourable at its incorporation.

Cell Communication↗
PubMed1989

[Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases].

We report two exceedingly unusual and severe cases of Marfan syndrome with neonatal manifestations. Clinical features were caricatural. The skin was of the cutis laxa type. Both infants died shortly after birth as a result of severe cardiovascular lesions. Histologic examination of the aortic media confirmed the diagnosis. Because this genetic connective tissue dysplasia is inherited on an autosomal dominant basis with strong penetrance, and because in both instances the two parents had a negative family history, a dominant mutation seems likely in our cases and prompted us to be optimistic when giving genetic counseling. We point out the characteristic features of these exceptional early forms and describe the results of a detailed histologic examination of the skin that completes data from the literature.

Aorta↗
PubMed1989

Homogentisic acid determined in biological fluids by HPLC.

In this rapid, specific, and sensitive high-performance liquid-chromatographic method of analysis for homogentisic acid in biological fluids, homogentisic acid is separated on a column of Nucleosil CN. This method, which we applied to the diagnosis of three cases of alcaptonuria, represents a suitable analytical tool for the diagnosis of alcaptonuria.

Adult↗
PubMed1988

The ethanol regulon in Aspergillus nidulans: characterization and sequence of the positive regulatory gene alcR.

The regulatory gene, alcR, of Aspergillus nidulans, encodes a protein that induces the expression of the alcA and aldA genes. The alcR gene is inducible, autoregulated, and subject to carbon catabolite repression. We report the complete nucleotide sequence of the alcR gene and its 5' and 3' non-coding regions. In the 5' flanking region of the alcR gene, several repeats and inverted repeats were found, and small sequence similarities were also found with the 5' flanking regions of the alcA and aldA genes. One intron of small size interrupts the open reading frame. The start point of transcription was mapped 50 nucleotides upstream from the putative start codon, and a sequence CAATG was found 5' to the polyadenylation site of the transcript that could play a role in selection of the polyadenylation site. The putative alcR-encoded protein was identified in vivo as an inducible polypeptide of 96 kDa in a transformant carrying multiple copies of the alcR gene.

Alcohol Dehydrogenase↗
PubMed1988

Interleukin 1 enhances growth factor-dependent proliferation of the clonogenic cells in acute myeloblastic leukemia and of normal human primitive hemopoietic precursors.

IL-1 is released by activated monocytes and is thought to be a key mediator of the host immune response. The availability of the purified and, more recently, recombinant IL-1 has allowed the characterization of other biological properties of this molecule. Thus, IL-1 is thought to have the same properties as hemopoietic 1, a growth factor that has been shown to act on primitive murine hemopoietic cells. Here we report that rIL-1 acts synergistically with granulocyte/macrophage CSF (GM-CSF) or granulocyte CSF in the stimulation of clonogenic cells from many patients with acute myeloblastic leukemia (AML). Although IL-1 by itself has no effect on AML blasts, it can support colony formation under conditions where there is detectable production of endogenous GM-CSF. IL-1 also promotes the growth of multipotential progenitors from normal human bone marrow cells in the presence of GM-CSF. These observations support the hypothesis that in the hemopoietic system, IL-1 has a selective effect on primitive precursors.

Bone Marrow Cells↗
PubMed1988

A gonial mitosis-stimulating factor in cerebral ganglia and hemolymph of the marine mussel Mytilus edulis L.

A gonial mitosis-stimulating factor produced by the cerebral ganglia of the mussel Mytilus edulis has been demonstrated. This factor induces an increase of [3H]thymidine incorporation in the DNA of isolated mantle cells. Dose-response data are obtained with the methanol phase of an acidic ganglia extract. The rate of [3H]thymidine incorporation is compared with aspartate transcarbamylase specific activity, another bioassay previously described to estimate mitotic activity. This heat-stable mitogenic factor appears to have a molecular weight of less than 5000 Da. A gonial mitogenic factor is also found in the hemolymph and circulatory cells.

Animals↗
PubMed1988

What does inductance plethysmography really measure?

Inasmuch as it has been claimed that inductance plethysmography can measure cross-sectional area changes, we tested this assumption. We present experimental and computed relationships between self-inductance (L) of coils and areas (A) included inside for a coil with a well-defined side wavy pattern (triangular or sinusoidal) and for a real belt (Respitrace) placed on elliptical or rectangular configurations. The results are applied to the physiological field using measurements obtained from a computed tomography experiment. We demonstrate that the L-A relationships vary not only with shape or ellipticity of the cross section but also with the wavy pattern shape. This last parameter is critical because it is difficult to actually control. When the coil wavy pattern remains steady, there are some physiological situations where inductance plethysmography can more accurately estimate area changes: when the configuration shape is constant, the correspondence between delta L and delta A is almost linear with a shape-dependent sensitivity; when the configuration is nearly circular (ellipticity in the range 0.8-1), the relative error in delta A estimation is less than 5%.

Humans↗
PubMed1988

[Biological diagnosis of hereditary metabolic diseases. From selective screening to the mutant-cell bank].

The experience of a specialized laboratory for the biological diagnosis of inborn errors of metabolism in selected pediatrics patients is reported. The strategy starts with a wide testing of blood and urine, as many inborn errors of metabolism can be detected through testing of blood and urine for increased concentration of specific metabolites known to be associated with the genetic defect. Then enzymatic or DNA studies are performed to confirm the diagnosis. The mutant cells mostly fibroblasts are stored in a cell bank and available for other research.

Cells, Cultured↗