Biomedical subjects

R J T van Golde

Publications and source records attributed to R J T van Golde.

3 recordsLinked to original sources

PubMed2006

Globozoospermia revisited.

Globozoospermia is a rare (incidence <0.1%) but severe disorder in male infertility. Total globozoospermia is diagnosed by the presence of 100% round-headed spermatozoa lacking an acrosome. It is still unclear whether patients whose ejaculate contains both normal and globozoospermic cells (partial globozoospermia) suffer from a variation of the same syndrome. Apart from the fact that affected males suffer from reduced fertility or even infertility, no other physical characteristics can be associated with the syndrome. ICSI is a treatment option for these patients, although low fertilization rates after ICSI show a reduced ability to activate the oocyte. In globozoospermic cells, the use of acrosome markers has demonstrated an absent or severely malformed acrosome. Chromatin compaction appears to be disturbed but is not consistently over- or undercondensed. In some cases, an increased number of cells with DNA fragmentation have been observed. The analysis of the cytogenetic composition revealed an increased aneuploidy rate in some cases. Nonetheless, no increased number of spontaneous abortions or congenital defects has been reported in pregnancies conceived after ICSI. The pathogenesis of globozoospermia most probably originates in spermiogenesis, more specifically in acrosome formation and sperm head elongation. In several knockout mouse models, a phenotype similar to that in humans was found. Together with the occurrence of affected siblings, these findings indicate a genetic origin, which makes globozoospermia a good candidate for genetic analysis. More research is needed to elucidate the pathogenesis of human globozoospermia to further understand globozoospermia as well as (abnormalities in) spermiogenesis and spermatogenesis in general.

Adult↗

PubMed2005

Pregnancy after radical trachelectomy: a real option?

INTRODUCTION: Radical trachelectomy is a surgical procedure for early-stage cervical carcinoma with preservation of the childbearing capacity. The current article presents a review of studies describing the results and complications of pregnancies after this procedure. METHODS: Sixteen studies were included (involving 355 radical trachelectomy procedures). Studies were reviewed for the number of patients included, the number attempting to conceive, the number who achieved pregnancy, the number of pregnancies achieved, the numbers of first and second trimester losses, and when delivery occurred in the third trimester. RESULTS: One hundred and fifty-three patients attempted to conceive during the follow-up period (range 1-144 months), this accounts for 43% of the patients that underwent radical trachelectomy. 70% of the patients attempting to conceive succeeded once or more than once. 161 pregnancies were described, finally resulting in 49% term deliveries. In about 15% of the patients who tried to conceive, cervical stenosis was found and resulted in menstrual disorders or fertility problems. Surgical dilatation resolved this problem in most cases but had to be repeated. Complications during pregnancy involved second trimester loss (13/161) and premature (< or =36 weeks AD) delivery (33/161). CONCLUSIONS: Pregnancy after radical trachelectomy is feasible. For various reasons, a number of patients (57%) did not try to get pregnant after the surgical procedure. The majority of the patients who tried to conceive after radical trachelectomy succeeded once or more than once (70%). Patients attempting to conceive need to be informed of the complications and risk factors, in particular, second trimester loss and premature delivery caused by premature rupture of membranes. Once pregnant, patients need to be carefully followed for cervical incompetence and other risk factors for premature rupture of membranes.

Female↗

PubMed2002

No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI.

There is a risk that ICSI may increase the transmission of mtDNA diseases to children born after this technique. Knowledge of the fate and transmission of paternal mitochondrial DNA is important since mutations in mitochondrial DNA have been described in oligozoospermic males. We have used an adaptation of solid phase mini-sequencing to exclude the presence of levels of paternal mtDNA >0.001% in ICSI families. This method is more sensitive than those used in previous studies and is sufficient to detect the likely paternal contribution (approximately 0.1-0.5% from simple calculations of expected dilution during fertilization). Using this method, we were able to detect concentrations as low as 0.001% paternal mtDNA in a maternal mtDNA background. No paternal mtDNA was detected in the embryonic (blood or buccal swabs) tissue of children born after ICSI nor in extra-embryonic tissue (placenta or umbilical cord). In conclusion, we did not detect paternal mtDNA in blood, buccal swabs, placenta or umbilical cord of children born after ICSI. We have found no evidence that ICSI increases the risk of paternal transmission of mtDNA and hence of mtDNA disorders.

DNA, Mitochondrial↗