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Biomedical subjects

M Bonduelle

Publications and source records attributed to M Bonduelle.

At least 109 records · Page 6Linked to original sources
PubMed1989

Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.

We previously reported a recombination in an individual with myotonic dystrophy (DM) which placed the markers D19S19 and APOC2 on the same side of the DM locus. Haplotyping of this family with more recently characterized probes which are either tightly linked to DM or distal to the linkage group at q13.2 shows that the DM locus is distal to APOC2. This is confirmed by other recombinants where DM segregates with distal probes. Additional marker to marker recombinations in unaffected individuals are reported and support the order and orientation of the DM linkage group as pter-(INSR, LDLR,S9)-(S19,BCL3,APOC2)-(CKMM,DM)-(S22,+ ++PRKCG)-qter. The data presented here cannot determine whether DM is proximal or distal to CKMM. The consequences of this probe order for antenatal diagnosis and future research aiming to isolate the gene which is affected in DM are discussed.

Chromosome Mapping↗
PubMed1989

Chromosome studies and fertility treatment in women with ovarian failure.

In vitro fertilization and embryo transfer or gamete (or zygote) intra-Fallopian transfer after ovum donation were performed in 16 patients with primary or secondary amenorrhea, associated with chromosome abnormalities. The patients showed the wide range of (mostly X) chromosome abnormalities characteristic for women with primary or premature ovarian failure. Four of these patients became pregnant and three of them have delivered healthy infants with a normal karyotype. This pregnancy rate is far superior to the accepted fertility figure in these patients. When these results were compared with the fertility treatment results of three other groups of women with absent ovarian function (1. ovarian dysgenesis; 2. surgical castration; 3. premature menopause) but with a normal 46,XX karyotype, no difference in treatment efficiency could be detected. These results offer a promising approach for the treatment of infertility in agonadal patients with chromosome aberrations.

Adult↗
PubMed1989

[Amyotrophic lateral sclerosis. In search of its etio-pathogenic mechanisms].

The etiological problem of ALS has still not been resolved although a large amount of work, more and more technical, has been devoted in the fields of immunology, virology, environment and genetics. This research is related to spinal amyotrophies in general--to motor neuron diseases--and it is only as an analogy or as a model that the results may be used in the specific case of ALS. The genetic hypothesis of ALS is suggested by family cases (in adults) and seems to be linked to Parkinson and Alzheimer diseases; all of these are 'degenerative' nervous diseases and there are examples of their association. Research is being done in anatomy, embryogenesis, neurochemistry, molecular genetics to investigate the pathophysiology of neuron considered the only way to develop a specific therapy. The treatment, although still symptomatic, is improving due to technical progress in management.

Amyotrophic Lateral Sclerosis↗
PubMed1988

Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment.

Cytogenetic studies were performed in 500 couples referred for in-vitro fertilization or gamete (zygote) intra-Fallopian transfer. Thirteen individuals (1.3%) with chromosomal abnormalities were found. Four major types of anomalies were observed: reciprocal translocations (n = 3), inversions (n = 2), iso-Xq chromosomes (n = 2) and sex chromosome number mosaics (n = 4). Moreover two males with respectively a 47,XYY and a 47,XY,mar+ karyotype were identified. These data pointed to a higher incidence of chromosomal aberrations in this infertile population as compared to a neonatal population without obvious chromosomal pathology. Analysis of the chromosomes which were involved in hyperdiploidy and hypodiploidy in the 30,000 metaphases evaluated, showed a high proportion of cells that had lost or gained an X-chromosome. A puzzling finding was the statistically significant low incidence of 45,X metaphases (0.9%) in women of couples treated on andrological indication as compared to the frequency of 45,X chromosome complements in women with tubal disease (4.0%) or of couples with an idiopathic (4.3%) or mixed female and male (6.7%) indication.

Adult↗
PubMed1987

Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci.

The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 families with at least one child affected by CF. The data were contributed by 11 laboratories from Europe and Israel. The maximum lod scores and recombination frequency estimates (luminal diameter) (and confidence limits of luminal diameter) were: 18.3 at luminal diameter = 0.007 (0.001-0.038) for CF vs. MET, 11.0 at luminal diameter = 0.016 (0.001-0.068) for CF vs. D7S8, and 5.7 at luminal diameter = 0.0 (0.0-0.064) for CF vs. D7S16. A gene order of CF-MET-D7S8 was best supported by the data, but its preference to the order D7S8-CF-MET is mainly based on one single family. There are significant allelic associations between CF, MET, D7S8 and D7S16; these allelic associations affect the risk of random individuals to be carriers of CF.

Alleles↗
PubMed1987

[Epilepsy and Canon Law].

The Canon Law (Codex Iuris Canonici), promulgated in 1917, was a classification of laws and jurisprudence which ruled the early Church, governed the ecclesiastical condition of Roman Church until its reorganisation in 1983. It forbade to be ordained or to exercise orders already received to "those who are or were epileptics either not quite in their right mind or possessed by the Evil One". All the context and in particular the paragraph which treated of bodily lacks, indicated that between these three conditions, there was juxtaposition and no confusion. The texts specified the foundations of these dispositions, not in a malefic view of epilepsy inherited from Morbus Sacer of Antiquity, but in decency and on account of risk incured by Eucharist in case of fit. Some derogations could attenuate the severity of these dispositions--as jurisprudence had taken progresses of Epileptology and therapeutics into consideration. In the new Code of Canon Law (1983) physical disabilities were removed from the text and also possessed evil and epilepsy, the only impediment being "insanity or other psychic defect" appreciation of which is done by experts. Concerning poorly controlled epilepsies, we believe that experts will be allowed to express their opinion and a new jurisprudence will make up for the silence of the law.

Catholicism↗
PubMed1985

Immunoreactive prostacyclin and thromboxane metabolites in normal pregnancy and the puerperium.

Prostacyclin and thromboxane have been implicated in the pathophysiology of several disorders of pregnancy, but there is little information on concentrations of these prostaglandins in normal pregnancy. The aim of our study was to determine the range of values throughout normal pregnancy and the puerperium and to compare this with concentrations in normal non-pregnant women. Measurement was by radioimmunoassay of prostacyclin and thromboxane metabolites. We observed a significant difference in prostacyclin metabolites in the first trimester, (mean 19.9, SEM 0.96 pg/ml) compared with the normal non-pregnant group (mean 15.9, SEM 0.68 pg/ml). There were no significant differences between values in the normal non-pregnant group and those in the second and third trimester or postnatally. The increase in prostacyclin in the first trimester may be associated with placentation and physiological vasodilation, and insensitivity to angiotensin II seen in early pregnancy. We noted a significant reduction in thromboxane metabolites in the second (mean 133, SEM 14.9 pg/ml) and third (mean 123, SEM 10.7 pg/ml) trimesters and the puerperium (mean 119, SEM 6.3 pg/ml) compared with the values in the normal non-pregnant group (mean 142, SEM 4.9 pg/ml). This may be due to increased platelet stability or decreased thromboxane synthesis.

Epoprostenol↗
PubMed1984

[Intra-arterial cisplatin chemotherapy of epidermoid carcinomas of the oral cavity. Preliminary results].

The chemotherapy schedule used for treatment of epidermoid carcinoma of the buccal cavity is described, together with the technique proposed by Richard for introduction of the intra-arterial catheters. Two sessions of intra-arterial infusion lasting 6 days are separated by an treatment-free interval of 6 days. Five patients with oropharyngeal endobuccal epithelioma were treated in this way, two of these cases receiving major surgery during chemotherapy. Analysis of a pelvimandibulectomy operative specimen from one of these patients failed to show any trace of cancer in a lesion which had been initially classified T3N3 by histology. This case, combined with other reports of clinical remission without histologic proof, and after a short follow up, suggests a certain efficacy for cisplatinum intra-arterially. This local efficacy, without however diminishing the surgical target volume, will probably give a better survival rate than when surgery alone is performed.

Carcinoma, Squamous Cell↗
PubMed1979

[Benign forms of multiple sclerosis : a revaluation (author's transl)].

The authors studied 38 cases of benign forms of MS, defined as those allowing a normal or nearly normal social, occupational, and family life over a "long" period of tens of years, for at least 15 years (mean : 28 years, range : 15 to 68 years).--Forms with rare relapses with long intervals between them (18 cases), and a mean period of 14 years (5 to 30) between the first and second episode.--Recurrent forms (17 cases) with frequent attacks (one or two a year), including 8 cases with no further relapses after an average period of 10 years, and 9 cases with continuation at the same rhythm for 15 to 23 years.--Secondarily progressive forms belonging to both types--8 in the first and 3 in the second--characterized by the late onset (mean : 25 years, range : 15 to 47 years) of a progressive paraplegia.--Slow forms (3 cases) with an early but only slowly evolving progressive phase, which fall into a border line category of benign forms. Independently of the mean age of onset (26 years); the predominence of females (2.2); and the symptomatology of the first attack (40 p. 100 involve the cranial nerves, and 40 p. 100 have pyramidal signs), the two essential characteristics of benign forms are the remarkable regression of relapses (rare of frequent) and the absence of a progressive phase. Once the 10-year point has been passed without permanent disability the prognosis is good, but with the reserve that the disease can become worse at a later stage.

Adolescent↗