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Biomedical subjects

M Bonduelle

Publications and source records attributed to M Bonduelle.

154 records · Page 9Linked to original sources
PubMedDate not supplied

The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis.

This paper describes the 5 years' experience of preimplantation genetic diagnosis (PGD) at the Brussels Free University. Our first PGD was carried out in February 1993. Up to October 1998, we carried out 183 PGD cycles on fresh cleavage embryos of 92 couples for 25 different conditions. Patients were treated for autosomal recessive (n = 39), autosomal dominant (n = 65) and X-linked recessive (n = 47) monogenic disorders as well as for autosomal structural aberrations (n = 10), sex chromosome numerical and structural aberrations (n = 21) and a combination of the two latter (n = 1). Specific diagnosis was carried out by polymerase chain reaction (n = 108). Fluorescence in-situ hybridization was used for sexing (n = 64) and structural aberrations (n = 11). We transferred 1.6 +/- 1.1 embryos per cycle, resulting in an implantation rate of 12.0% per replaced embryo. Ongoing pregnancies were achieved in 29 cycles, i.e. 23 singletons, five twins and one dichorionic triplet with an acardius acranius. The ongoing pregnancy rates per cycle, per transfer and per couple were 16.4, 19.9 and 31.5% respectively. While 28 ongoing pregnancies resulted in the births of 34 infants, one pregnancy was terminated after misdiagnosis. The results of 24 PGD were confirmed by prenatal diagnosis or after birth while no information was available in four pregnancies. Our series demonstrates that PGD is a feasible technique by which to avoid the birth of genetically affected children to couples at risk.

Adult↗
PubMedDate not supplied

Follow-up of children born after ICSI.

The comparison of outcome of assisted reproductive technology (ART) children and naturally conceived children may be hampered by the difference in characteristics of the infertile patients such as age and genetic risks. Follow-up studies are further hampered by the type of neonatal surveillance protocol, the number of individuals lost to follow-up, the size of the cohort study, and the lack of standardization, for example to define major anomalies. The limited available data on ICSI fetal karyotypes reveal that, in comparison with a general neonatal population, there is: (i) a slight but significant increase in de-novo sex chromosomal aneuploidy (0.6% instead of 0.2%) and structural autosomal abnormalities (0.4% instead of 0.07%); and (ii) an increased number of inherited (mostly from the infertile father) structural aberrations. Available data indicate that in 8319 liveborn ICSI children, the mean percentage who do not originate from singleton pregnancies was 40% (range 32.6-60.8% according to centre). Most multiples are twins, but there are also 4.4% triplets (in one survey 13.2%). This substantial increase in multiple pregnancies must be considered the most important complication of ART. The different percentages of major and minor congenital malformations cannot be compared, but overall the data in large and reliable surveys does not indicate a higher rate of malformations in ICSI children than in naturally conceived children. To date, only three studies have examined the medical and developmental outcome of ICSI children at 1 and 2 years. These do not reveal obvious problems, but in future further comparison of matched cohorts of children and case-control studies are needed before final conclusions can be drawn.

Aneuploidy↗
PubMedDate not supplied

[Isolated sensory trigeminal neuropathy (author's transl)].

Three cases of the disease are reported by the author. Clinical observations showed them to be unilateral lesions, not affecting the Vth motor nerve fibers, and without any other neurological disorder. The lesions had been present for 16, 8, and 2 years respectively. Radiography and tomography of the petrous bone was normal, as was tomodensitometry in the third case. The three patient developed a syndrome with dysesthesia and hypoesthesia after several weeks or months, and this remained fairly constant. In such cases which progress over a long period of time, in which there is no anatomical basis, and in which no aetiology can be found, the only conclusions to be drawn are clinical ones: that this is a true syndrome of chronic isolated sensory neuropathy of the trigeminal nerve.

Adult↗
PubMedDate not supplied

[Postural tremor].

Explore the source record for details and available documents.

Brain Diseases↗
PubMedDate not supplied

[The intimate Charcot].

Charcot's first inner circle of relationships was at work at the Salpêtrière, face to face with his intern who Charcot then invited to his home. At the Clinic, Charcot gave his official lectures that attracted crowds, but the small circle of "his" students--interns, residents and other rare and privileges students saw some of the "best" moments, as long as they aquiesced totally and did not question the "maître". They all got together for dinner on Tuesday night at his sumptuous "hôtel" on Boulevard Saint-Germain, followed by a reception where they could meet writers, artists and politicians. When the outsiders had left, Charcot tightened together his inner circle, those he would invite to his summer home in Neuilly. Léon Daudet was one of these. He saw the art-lover, the enlightened connaisseur of classical literature. He saw Charcot let down his severe mask of a professor and become a pleasant joking man, yet his fascination with Charcot did not stop him from criticizing Charcot's materialism and anticlericalism. He also repudiated Charcot's autoritarism and depotism over his family (whom he adored) and recognized in Charcot a certain timidity and "proud malaise". These evenings, rare occasions in a life filled with work, went on long into the night in the solitary silence of his library. Only his long trips which he used as a "cure" broke the intimacy of his inner circle. His letters to his wife, who never accompanied him, offer a glimpse into the personality of this secret man. They let us perceive the effect of overwhelming scientific success and flattering applause, but also the shadow of susceptibility as seen by his daughter Jeanne who accompanied him on his last trips. He never gave up, never confided in others, yet he was a charmer, one whose silence was often a prelude to an explosion of rage.

France↗
PubMedDate not supplied

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Four susceptibility genes have recently been identified in HSCR, namely the RET proto-oncogene, the glial cell line-derived neurotrophic factor (GDNF), the endothelin B receptor (EDNRB) and the endothelin-3 genes (EDN3). Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome. Here, we report on heterozygous EDN3 missense mutations in isolatec HSCR. The present data give further support to the role of the endothelin signaling pathway in the development of neural crest-derived enteric neurons. They also suggest the possibility that either recessive or weakly penetrant dominant alleles could occur at the EDN3 locus, depending on the nature of the mutation.

Endothelin-3↗