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Biomedical subjects

F Bajolle

Publications and source records attributed to F Bajolle.

At least 19 recordsLinked to original sources
PubMed2006

[Left heart defects and genetics].

The obstructive cardiac defects of the left heart are an heterogeneous group of malformations. These past years their molecular bases have been partially understood. The associated chromosomal anomalies are mainly represented by the Turner syndrome, the microdeletion of the chromosome 11q and the 7q23 deletion in Williams syndrome. In isolated obstructive left heart diseases, new insights into their genetic bases have been made because the dominant inheritance has been demonstrated and the notion of a phenotypic continuum between bicuspid aortic valve and the complete form of hypoplastic left heart has been proposed. Finally, mutations in genes involved in heart development, namely NKX2.5 and NOTCH1, have been identified in these defects and support the former hypotheses. The low penetrance and the variable expression of these known mutations did not completely solved prenatal genetic counselling.

Chromosome Aberrations↗
PubMed1996

[Intra-uterine inseminations with hyperstimulation in male infertility].

Our aim is to evaluate the efficacity of intrauterine insemination in male infertility after controlled ovarian hyperstimulation. 96 cycles were carried out. 16 pregnancies were achieved, the pregnancy rate per cycle is 16.7% (43.3% per couple) and 12.5% ongoing pregnancies. Six cycles were proposed and the higher cumulative probability of pregnancy is obtained at the 4th cycle. The best pregnancy rate per cycle is obtained with 5.10(6) to 10.10(6) inseminated. The success rate is not associated with the number of sperm abnormalities in our study.

Adult↗
PubMed1990

[Value of karyotype in psychiatry: the 3-D syndrome (dysthymia-dysgonosomia-deterioration). First clinical, cytogenetic, anatomical correlation].

The systematic study of the karyotype in Adult Psychiatry reveals among the group of periodical psychoses the existence of the 3-D Syndrome, marked by long clinical cycles, a course towards a dementia, the presence of a X-dysgonosomy with mosaicism, a relative and better clinical response with the use of lithium than with the use of tricyclic antidepressants. These characteristics discriminate the 3-D syndrome from the periodical manic depressive psychosis, which neither includes the course towards a dementia nor does it include until now identified cellular abnormalities. From the anatomical point of view the brain is quasi-normal, when the ultimate phase is a dementia. The 3-D Syndrome seems to be linked with a phenomenon of chromosomal instability. The caryotype takes a part among the usual biological tests in psychiatry.

Aged↗
PubMed1987

[Value of a meiotic study of male sterility].

Both in men where the somatic karyotype is abnormal as well as in cases where it is normal, it is worth while studying meiosis in the male. The picture of meiosis has been studied in the main from testicular biopsies and also partly from spermatic line cells found in sperm. Studying the haploid portion of the male pronucleus using the hamster test reflects the process of meiosis. In this way it has been possible to individualise different pathological entities such as asynapsis or desynapsis, alterations in synaptic complexes, the presence of several nucleoli or micronucleoli in the pachytene stage, hyper or hypo polidies, the presence of univalents and the breakdown of bivalents, oligochiasmatasis, chain or ring pictures or early desynapsis of the sexual vesicle in the diacinesis and in the first metaphase stage. Aneuploidies have been found in the second metaphase stage or when carrying out chromosome analysis on the male pronucleus. The abnormalities in the number of chromosomes which are found with the formula 47,XXY, may be due to faults in spermatogenesis, but in the case of the double Y in 47,XYY the extra Y will rarely be found during meiotic divisions. The Robertsonian translocations causing abnormalities in structure are due to the formation of trivalents whereas reciprocal translocations give rise to the idea of quadrivalent pictures mainly associated with faults in spermatogenesis. Finally, autosomal chromosome translocations seem to have more severe meiotic repercussions, particularly in cases where the inactive autosomal X chromosome is involved. Even where a somatic karyotype is normal in a fertile subject that does not mean that there is no meiotic abnormality present, because 8-10% of the cells that were studied showed such an abnormality.

Chromosome Aberrations↗
PubMed1986

Chromosomal changes in a documented case of malignant histiocytosis: significance of polyploidy.

A case of malignant histiocytosis was studied by cytology, cytochemistry, electron microscopy, and cytogenetics. It was shown that the malignant cells expressed a fully differentiated histiocytic pattern with high macrophagic activity. This correlated with the presence of polyploid metaphases. The significance of polyploid cells in the definition of malignant histiocytosis is discussed.

Aged↗
PubMed1986

[Does ultrasound have an adverse effect on the fertility of women?].

Fifty women who were subfertile received artificial insemination from donors (A.I.D.) with ultrasound monitoring of ovulation. They were compared with an identical number of women who were inseminated without ultrasound control. The series side by side showed that there was a lower fertilisation rate in those who were monitored (4.2% compared with 6.2%) per month on an average over six months as compared with those who were not monitored by ultrasound, and those who were monitored took significantly longer to become pregnant than those who were not monitored. Because of these results the authors wonder whether ultrasounds are harmful for ovulation.

Adult↗
PubMed1985

[Antispermatozoa autoantibodies in male sterility. Value of the detection of surface immunoglobulins G by the MAR test].

The mixed antiglobulin reaction (MAR) test for immunoglobulins G was performed on 574 spermograms, resulting in the detection of surface auto-antibodies directed against spermatozoa in 4.18% of the cases. Concomitant investigations of spermograms for spontaneous agglutination and cross-penetration in a control cervical mucus, together with assays of antispermatozoa antibodies in serum and seminal fluid, have led to the diagnosis of asthenospermia in 87.5% of the cases. Spontaneous sperm agglutination was present in all cases; the cross-penetration test was negative or doubtful in 92.3%. Auto-antibodies against spermatozoa were found in 76.2% of serum and/or seminal fluid samples.

Autoantibodies↗
PubMed1985

Chromosomal changes in an ovarian granulosa cell tumor: similarity with carcinoma.

The chromosomal changes in an ovarian granulosa cell tumor were studied after short-term culture in defined medium. The abnormalities found included X monosomy, structural rearrangements of chromosome #1, and an interstitial deletion of the long arm of chromosome #6. This pattern is closely related to that found in ovarian carcinoma and argues for the malignant nature of such tumors at the cellular level.

Carcinoma↗
PubMed1985

[Immobilization of spermatozoa by peritoneal fluid in sterile women. Preliminary results].

Peritoneal fluid from sterile women where the state of the pelvis is changed by endometriosis, inflammation, infection, and in certain cases where it appears normal laparoscopically, can immobilise spermatozoa in minutes or hours. This toxicity against male gametes could be an explanation of the mechanism for such sterility. The tubes and the ovaries are bathed in this liquid in the periovulatory phase when they are largest in size. If these first observations are confirmed fully many theoretical, practical and therapeutic implications must follow.

Amenorrhea↗
PubMed1983

H-Y antigen negativity associated with a normal male phenotype.

The 46, XY, 45, X mosaicism is a complement found only once among 39,557 males at birth [18]. The spectrum of phenotypes associated with this mosaicism is continuous ranging from female phenotype with or without Turner syndrome, to mixed gonadal dysgenesis, hermaphroditism, or occasionally almost normal males [24]. In such mosaicism the Y chromosome is usually rearranged: mainly i(Y) and dic(Y) but also del(Y) and r(Y). In a few cases the cell line with 46 chromosomes contains a minute marker which was assumed to be a Y-fragment (Y-f) or a del(Yq) because of the presence of testicular tissue in subjects with sexual ambiguity [20]. We now report the case of a normal but sterile man with a 45, X/46, X, Y-f caryotype who is HY antigen-negative.

Adult↗
PubMed1980

Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric invesion, with a note for genetic counselling.

A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.

Abnormalities, Multiple↗
PubMed1980

[136 karyotypes in psychiatry: surprising results].

136 patients admitted into a psychiatric unit underwent a routine caryotype examination, without any previous selection, 9 anomalies were noticed, including one case of X-tetrasomia, reported elsewhere, and eight mosaics. The patients concerned do not present any morphological anomaly or intellectual deficiency. The authors consider those--mostly gonosomial--mosaics as a minimal brain damage, favourising the appearance of the particular psychiatric syndrome.

Adolescent↗