Search PubMed⌕ Search

Biomedical subjects

M Bonduelle

Publications and source records attributed to M Bonduelle.

At least 73 records · Page 4Linked to original sources
PubMed1996

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.

The condition of congenital bilateral absence of the vas deferens (CBAVD) is, in the majority of patients, related to defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CBAVD patients either are compound heterozygotes (carrying different mutations in their two CFTR genes) or carry a mutation in one of their CFTR genes and an intron 8 5T splice variant, associated with low levels of functional CFTR protein, in their second gene. The relationship between cystic fibrosis (CF) and CBAVD requires a proper clinical examination of the patient, a CFTR mutation analysis for himself and his family and genetic counselling. A mutation analysis should also be performed for the wives of CBAVD males because such couples now have the possibility of having their own genetic children but are at increased risk of having children with CF and/or CBAVD. The aetiology of some conditions of CBAVD is not related to CF, especially when CBAVD is associated with urinary tract malformations (up to 20% of cases). In couples with CBAVD not related to CF there is no increased risk of CF children, but it is not known whether they have an increased risk of having sons with CBAVD. In some of the patients with congenital unilateral absence of the vas deferens (CUAVD) the condition is also related to CF, especially in cases where there is an occlusion of the palpable vas. The CFTR gene is probably not involved in the aetiology of Young's syndrome. Follow-up studies of children born to couples where the males have CBAVD, CUAVD or Young's syndrome are mandatory and will help to better define the risk to their offspring of CF and/or of inheriting their paternal infertility condition.

Cystic Fibrosis↗
PubMed1996

Prospective follow-up study of 423 children born after intracytoplasmic sperm injection.

In order to evaluate the safety of the intracytoplasmic sperm injection (ICSI) procedure, a prospective follow-up study of 423 children born after ICSI was carried out. The aim of this study was to compile data on karyotypes, congenital malformations, growth parameters and developmental milestones. Before starting the infertility treatment, couples were asked to participate in a follow-up study including genetic counselling and prenatal diagnosis. The follow-up study of the child was based on a visit to the paediatrician-geneticist at birth or at 2 months of age, at 1 year and at 2 years of age when a physical examination for major and minor malformations and a psychomotoric evaluation were done. Between April 1991 and September 1994, 320 pregnancies obtained after ICSI led to the birth of 423 children (222 singletons, 186 twins and 15 triplets). Prenatal diagnosis determined a total of 293 karyotypes, one of which was abnormal (0.3%), and four were benign familial structural aberrations, all inherited from the paternal side. A total of 14 (3.3%) major malformations were observed, defined as those causing functional impairment or requiring surgical correlation. Neurological or developmental problems at the age of 2 months were found in 14 children, four of whom were multiples. Compared to most registers of children born after assisted reproduction and to registers of malformations in the general population, the figure of 3.3% major malformations is within the expected range. Before drawing any firm conclusion, further careful evaluations of the available data are necessary.

Adult↗
PubMed1996

Testicular sperm recovery in nine 47,XXY Klinefelter patients.

Klinefelter's syndrome is generally characterized by hypergonadotrophic hypogonadism and azoospermia. The clinical features, however, are variable, and occasionally severe oligozoospermia may be present. Usually in these cases a 46,XY/47,XXY mosaic karyotype is involved. However, focal spermatogenesis and severe oligozoospermia have been reported in 47,XXY individuals too. In the present study we investigated whether testicular spermatozoa can be recovered in 47,XXY patients with a view to intracytoplasmic sperm injection (ICSI). In four out of nine apparently non-mosaic 47,XXY patients, spermatozoa were recovered from the wet preparations of testicular tissue and ICSI was performed in three couples. In one patient in whom spermatozoa were successfully recovered and used for ICSI, no spermatozoa were retrieved at a second trial. Although these results show that in some 47,XXY individuals testicular spermatozoa can be successfully recovered and even used for ICSI, at present this approach should be considered experimental. There may indeed be some concern about the chromosomal normality of the embryos generated through this infertility treatment. Patients with Klinefelter's syndrome should therefore be counselled about the complexity of this treatment, which involves multiple testicular biopsies from hypogonadal testes, ICSI and preimplantation diagnosis by fluorescence-in-situ hybridization.

Adult↗
PubMed1995

Sleep apnoea in babies born after in vitro fertilization.

UNLABELLED: Babies born after in vitro fertilisation (IVF) are increasing in number, and, although these babies are considered as very precious, no data are available regarding their risk for sudden infant death or apnoea. To evaluate the respiratory maturity of IVF babies, we evaluated the incidence of apnoea during an 8-h polysomnography in 50 consecutively presented IVF babies and in a group of 50 unselected naturally conceived babies. All infants were in good health and matched for term (born > 38 weeks of gestation), birth weight, sex and age at the time of investigation (6-11 weeks post term, median 8.0). There were 24 twins in the IVF and 6 twins in the control group. The incidence of obstructive and isolated central apnoea was comparable in the IVF and control group. However, IVF babies had significantly more periodic breathing episodes than control babies (median 2.30 (range 0-15.30) in IVF, and 1.02 (range 0-11.2) in control babies; P < 0.01). This difference was not related to the higher number of twins in the IVF group. Single IVF babies had significantly more short central apnoeas (5-10 s) than IVF twins (5-10 s) (mean 38.80 +/- 18.63 and 22.33 +/- 13.35; P < 0.001). This difference between single and twin babies was not found in the control group. CONCLUSION: IVF babies have more periodic breathing episodes indicating an immature respiratory pattern than normally conceived babies.

Case-Control Studies↗
PubMed1995

Intracytoplasmic sperm injection (ICSI): the Brussels experience.

The present report covers the results of a 26-month period in which 1275 consecutive treatment cycles by intracytoplasmic sperm injection (ICSI) were performed in 919 couples. These couples were afflicted with male factor infertility and had had at least one previous failed conventional in vitro fertilization (IVF) treatment cycle. In other couples, the husband had semen parameters incompatible with conventional IVF or suffered from excretory azoospermia which required microsurgical epididymal sperm aspiration or testicular sperm retrieval. Overall, the 2 pronuclear (PN) fertilization rate was 47.7% per retrieved oocyte-cumulus complex and 66.4% per successfully injected metaphase II oocyte. Embryo transfer was performed in 90.8% of started cycles and 362 clinical pregnancies were recorded, giving a clinical pregnancy rate of 28.4% per started cycle or 31.3% per transfer. In addition, updated results on the outcome of pregnancies after microassisted fertilization are presented. As of 30 August 1994, 416 children have been born. Although 16 major congenital malformations have been observed (3.9%), there appears to be no reason for serious concern as regards the occurrence of major congenital anomalies after ICSI.

Belgium↗
PubMed1995

Obstetric outcome of 424 pregnancies after intracytoplasmic sperm injection.

An evaluation of the outcome of pregnancies resulting from intracytoplasmic sperm injection for severe male factor infertility was conducted by analysing the data obtained from the patients and/or their obstetrician/gynaecologist on standardized questionnaires. The data from 424 pregnancies between April 1991 and September 1994 were analysed. Early pregnancy loss before 16 weeks occurred in 99 cases (23.3%), including 48 clinical abortions (11.3%), 47 subclinical pregnancies (11.1%) and four ectopic pregnancies (0.9%). Vanishing twins and triplets, which could be regarded as early embryonic wastage, were found in 36 cases (8.5%). One pregnancy was interrupted at week 15 of gestation because of anhydramnios, and four pregnancies (0.9%) ended in spontaneous late abortions before 26 weeks. A total of 320 pregnancies (75.5%) resulted in the birth of at least one child; 222 of these (69.3%) were singletons, 93 were twins (29.1%) and five were triplets (1.6%). The problems of prematurity and low birthweight were especially related to the multiplicity of pregnancies. Furthermore, from among the total of 423 babies born, we have observed three cases of stillbirth and five cases of neonatal mortality. The perinatal mortality rate was therefore 18.9 per 1000 births. The results of this study show that the obstetric outcome of these pregnancies was similar to that obtained after conventional in-vitro fertilization and other assisted reproduction techniques.

Abortion, Spontaneous↗
PubMed1995

Comparative follow-up study of 130 children born after intracytoplasmic sperm injection and 130 children born after in-vitro fertilization.

The safety of intracytoplasmic sperm injection (ICSI) as a novel procedure of assisted fertilization may be assessed by the health of the children born. In a prospective follow-up study of children born after assisted procreation, 130 children born consecutively after ICSI were compared with 130 control children born after in-vitro fertilization (IVF). In both groups, mothers were matched for age and had the same standard treatment protocol. There were 74 singleton, 50 twin and six triplet children in each group. Prenatal karyotyping and ultrasound screening, physical examination at birth and developmental milestones, with a follow-up at 2 months and 1 year, were recorded. Prenatal karyotypes were obtained in 100 of the 130 children in the ICSI group compared with 22 of the 130 children in the matched IVF group. All karyotypes were normal except for one prenatally detected mosaicism, which was not confirmed at birth. Four major malformations were detected in the ICSI group (holoprosecencephaly, femur fibula ulna syndrome and palatoschisis in two children), compared with six in the matched IVF group (coarctation of the aorta, palatoschisis, hypospadias, unilateral cryptorchidism, soft tissue syndactily and 11-beta-hydroxylase deficiency). In the ICSI and IVF groups, mean +/- SD birth weights were 2.94 +/- 0.67 and 2.80 +/- 0.73 kg, lengths were 48.46 +/- 3.56) and 47.47 +/- 5.78 cm, and head circumferences were 33.79 +/- 2.20 and 31.19 +/- 8.88 cm respectively. Among the ICSI singletons, the mean +/- SD birth weight was 3.28 +/- 0.58 kg and among the twins it was 2.60 +/- 0.43 kg; for the IVF singletons and matched twins the mean +/- SD birth weights were 3.19 +/- 0.56 and 2.36 +/- 0.61 kg respectively. In conclusion, there was no difference in the paediatric follow-up of 130 children born after ICSI and 130 children born after conventional IVF in age-matched control patients.

Adult↗
PubMed1995

A randomized, assessor-blind, group-comparative efficacy study to compare the effects of Normegon and Metrodin in infertile female patients undergoing in-vitro fertilization.

A randomized, assessor-blind, group-comparative study was performed to compare the efficacy of Normegon [75 IU follicle stimulating hormone (FSH) and 25 IU luteinizing hormone (LH) and Metrodin (75 IU FSH and < 1.25 IU LH) in infertile women undergoing in-vitro fertilization (IVF) and embryo transfer. None of the patients were pituitary-suppressed by means of gonadotrophin-releasing hormone (GnRH)-agonist treatment. They were randomized in blocks of five with a ratio between treatment with Normegon and with Metrodin of 3:2. A total of 158 patients started hormonal treatment, i.e. 93 patients with Normegon and 65 patients with Metrodin and a total of 248 cycles were performed. Evaluation of first treatment cycles included statistical analysis of the total number of ampoules, number of follicles (> or = 14 mm), serum oestradiol concentrations on the day of HCG (10,000 IU) administration, the number of oocytes retrieved and the ongoing pregnancy rate per attempt and per transfer. For none of these parameters were significant differences revealed. In both groups the median duration of stimulation was 7 days and the median number of ampoules used was 21. Overall, the duration of treatment was short in order to prevent as much as possible endogenous LH rises. The overall ongoing pregnancy rate per transfer of all cycles was 21% in the Normegon group and 19% in the Metrodin group. Analysis of completed treatment cycles (n = 90) with premature rises of LH > 10.0 IU/l and/or progesterone > 1.0 ng/l revealed a relatively high incidence (23%) of fertilization failure and poor embryo quality, but the ongoing pregnancy rate per transfer was still 22%.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1995

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not all families. An association of WS symptoms with Hirschsprung disease (HSCR) has been reported in many families. We report here a patient with characteristics of WS2 and a de novo interstitial deletion of chromosome 13q. We also describe a family with two sibs who have both WS2 and HSCR. In this family, all possible genes for WS and HSCR, but not chromosome 13q, could be excluded. As an association between chromosome 13q and HSCR/WS has been reported previously, these data suggest that there is a gene on chromosome 13q that is responsible for WS or HSCR or both.

Animals↗
PubMed1995

Charcot as therapeutic interventionist and treating neurologist.

Although Jean-Martin Charcot's best-known medical and scientific contributions relate to anatomical-clinical correlation, he was also a highly regarded physician. His published lectures and articles, as well as documents at the Bibliothèque Charcot, demonstrate his active interest in therapeutic interventions and in bringing new experimental treatments to France for study. He investigated the efficacy of bromides for epilepsy, colchicine for gout, and ergots and anticholinergic drugs for Parkinson's disease. Nonpharmacologic treatments in which he took interest included physical rehabilitation/speech therapy, hydrotherapy, electrical stimulation of weakened muscles, isolation, and exotic interventions such as suspension and vibratory treatments with special chairs and helmets. Letters from his patients reveal an active interchange, with patients complimenting Charcot on successful treatments but also demanding more effective ones when his prescriptions did not abate their conditions. These documents demonstrate that Charcot was not a therapeutic nihilist but was particularly active in therapeutic investigations in the context of 19th-century medical science.

France↗
PubMed1995

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with CBAVD, who are otherwise healthy. We have identified four novel missense mutations (A800G, G149R, R258G, and E193K). We have shown that 42% of subjects were carriers of one CFTR allele and that 24% are compound heterozygous for CFTR alleles. Thus, we have been unable to identify 76% of these patients as carrying two CFTR mutations. Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier (delta F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD.

Alleles↗
PubMed1994

The evolution and outcome of pregnancies from oocyte donation.

A total of 199 patients participated in the oocyte donation programme in 336 replacement cycles in whom 69 clinical pregnancies were achieved, of which 53 reached term and delivery. Data concerning the evolution and outcome of pregnancies were retrieved in 52 cases, which involved 39 women with ovarian failure and 18 with functional ovaries. The most frequent complications of pregnancy were uterine bleeding in the first trimester in 18 cases (34.6%), hypertension in 17 (32.7%) and intra-uterine growth retardation (IUGR: 11.5%). These complications were more prominent in twin pregnancies. The Caesarean section rate was 63.5% and a high percentage of elective sections (54.5%) was observed. Of singleton pregnancies, 54.6% had a birth weight of > 3000 g at full term (> 37 weeks), while 62.5% of twins weighed between 2000 and 3000 g. One intra-uterine death occurred, so that the perinatal mortality was 1.7% and one newborn was operated on for stenosis of the pulmonary artery, while the incidence of premature labour was low (1.9%). A comparison of complications between pregnancies associated with ovarian failure and with functional ovaries revealed a higher frequency of bleeding in the first trimester (38.2% and 27.8% respectively) and of hypertension (38.2% and 22.2% respectively) in those with ovarian failure, although the differences were not statistically significant. In conclusion, women who become pregnant after oocyte donation and especially those with ovarian failure should be considered as high-risk obstetric patients.

Adult↗
PubMed1994

Prospective follow-up study of 55 children born after subzonal insemination and intracytoplasmic sperm injection.

In 163 couples referred for assisted fertilization, pregnancy was established by subzonal insemination (SUZI), intracytoplasmic sperm injection (ICSI) or a combination of both techniques. These couples agreed to participate in a prospective study that included a prenatal diagnosis and clinical follow-up of the children. No cytogenetic aberrations were observed in 43 children tested. In 23 pregnancies occurring after SUZI, 15 women gave birth to 21 children. After replacement of combined SUZI and ICSI embryos, 10 pregnancies resulted in 8 deliveries with 10 children. Transfer of ICSI embryos led to 130 pregnancies ending in 20 deliveries with 24 children, with many others still ongoing successfully. In total, 55 children have been examined: 29 boys and 26 girls. One child from a singleton pregnancy presented multiple congenital malformations; one twin child presented a quadriparesis. In this observational study on a limited number of children, the incidence of major malformations was not different from the incidence in the general population.

Abnormalities, Multiple↗