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Biomedical subjects

E J Meuleman

Publications and source records attributed to E J Meuleman.

At least 37 records · Page 2Linked to original sources

Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.

OBJECTIVE: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. DESIGN: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the deltaF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. SETTING: University-based center for reproductive medicine and clinical genetics. PATIENT(S): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. INTERVENTION(S): Semen and blood samples were collected from the patients at their first visit to the clinic. MAIN OUTCOME MEASURE(S): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. RESULT(S): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0-6.7%). None of the patients had two CFTR mutations. CONCLUSION(S): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.

Cystic Fibrosis Transmembrane Conductance Regulato↗

The impact of marital satisfaction and psychological counselling on the outcome of ICI-treatment in men with ED.

We investigated the relationship between marital satisfaction and choice of and compliance with treatment in 195 consecutive men with erectile dysfunction (ED). Marital satisfaction as measured by means of the Maudsley Marital Questionnaire (MMQ), was compared between four groups: (1) patients on intracavernous injection (ICI) treatment after the trial-dose phase (32%); (2) patients dropped out ICI in the trial-dose phase (12%); (3) patients on other treatment (31%); and (4) patients following first counselling renounced treatment (25%). Above, in a small group of 15 patients the effect of ICI treatment in combination with short-term psychological counselling (ICI + treatment) was assessed. No significant differences were found in marital satisfaction between the four groups. In the ICI + treatment group we experienced that providing information about factors that contribute to erectile function and enabling couples to communicate about sexual problems were the most important factors to increase efficacy of ICI treatment.

Erectile Dysfunction↗

Sexual dysfunction in men with multiple sclerosis--a comprehensive pilot-study into etiology.

UNLABELLED: Ideally, the etiological diagnosis of sexual dysfunction in patients with multiple sclerosis is established on the basis of both objective and subjective tests. Accordingly, we assessed sexual function in 16 male patients with multiple sclerosis and complaints of sexual dysfunction by means of subjective data from interviews and questionnaires and objective data, obtained from (psycho)physiological tests. Psychophysiological investigation consisted of measurement of sleep erections and of erectile response to visual erotic stimulation and penile vibration. Urodynamic investigation was used to assess the neurological status of the genital tract. Sixteen male patients with clinically definite multiple sclerosis, complaints of sexual dysfunction and a steady heterosexual relationship participated in the study. The majority of patients had no abnormalities in the objective tests. Only one (1 out of 15) patient showed disturbed sleep-erections, and four (4 out of 12) other patients showed signs of neurological dysfunction of the genital tract. CONCLUSION: In our patient-group, disturbed sleep erections and abnormal findings on urodynamic investigation appeared unrelated to the complaint of erectile dysfunction. Sexual function was related to psychological factors, decreased general sensitivity, and motor impairment.

Adolescent↗

Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?

Microdeletions in the AZFc region of the Y chromosome are found in oligo- and azoospermic men. These mutations were genetically lethal before the intracytoplasmic sperm injection (ICSI) era but they can nowadays be transmitted to next generations via ICSI. We have tried to answer the question, 'Does ICSI lead to a significant rise in the frequency of these microdeletions in future generations?', by developing a mathematical model for Y-linked mutations with two variables (fitness and mutation frequency). To illustrate this model we have made estimates according to three imaginary scenarios. Using the assumptions described, the model predicted that the frequency of microdeletions in the AZFc region would increase in each generation until a plateau was reached. The higher the fitness, the higher the plateau and the later the plateau would be reached. Taking realistic estimates for fitness (0.5) and spontaneous mutation frequency (0.0001), the maximum increase in men with microdeletions would be twofold. This maximum would be already reached after five generations. However, if the fitness of these men were improved and approached 1.0, the mechanism of selection would disappear and finally all men would have the deletion in the AZFc region. Because of the assumptions in these scenarios, these estimates have limitations. The model presented shows that the rise in the frequency of men with microdeletions in the AZFc region in future generations would be limited as long as the fitness of these men remained limited.

Chromosome Deletion↗

Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene.

Follicle stimulating hormone (FSH) is considered to be essential for spermatogenesis. Therefore, genetic abnormalities of FSH signalling on testicular Sertoli cells would be expected to affect sperm production negatively in males. Inactivating FSH receptor mutations have been reported earlier in both males and females. All affected males had elevated FSH serum concentrations and abnormal sperm parameters. We postulated that inactivating FSH receptor mutations might be a cause of oligozoospermia or azoospermia and reviewed the clinical data of 151 male intracytoplasmic sperm injection (ICSI) candidates with special attention to FSH serum concentrations. The exclusion criteria for mutation screening of the FSH receptor gene were: a history of operative sterilization or testicular malignancy, congenital abnormality other than cryptorchidism, and a chromosomal aberration or a Y-chromosome microdeletion. The inclusion criteria were: male (ICSI candidate) with azoospermia or oligoasthenoteratozoospermia (OAT) and elevated FSH serum concentrations. In total, 23 males with OAT and five males with azoospermia were tested for mutations of the coding sequences and the intron-exon boundaries of the FSH receptor gene by polymerase chain reaction (PCR) followed by single strand conformation polymorphism analysis (SSCP). Neutral polymorphisms were readily detected using this technique in both probands and controls. None of the 28 selected patients showed a pathogenic FSH receptor mutation. Mutations in the FSH receptor gene are not a common cause of infertility in ICSI candidates.

Cytoplasm↗

[Genetic investigation required in male infertility].

Four men aged 38, 31, 27 and 35 years were examined because of infertility. The first three had idiopathic oligozoospermia, the other bilateral ductus deferens agenesis. They were referred for intracytoplasmic sperm injection (ICSI). Clinical genetic investigation including thorough family history, chromosome investigation and molecular DNA investigation revealed that one patient had mosaicism for Klinefelter syndrome (46,XY/47,XXY), the second a familial balanced translocation (46,XY,t(4;16)) and the third a microdeletion in the AZFc region of the Y chromosome, while the fourth was homozygous for a cystic fibrosis mutation. In view of new fertilisation techniques such as ICSI, clinical genetic investigation is of great importance. It is not known whether these new techniques facilitate transmission of genetic disorders. Long-term follow-up of children conceived by ICSI is required.

Adult↗

[Infertility caused by ejaculation disturbances and anorgasmy].

Recent progress in andrology, reproduction biology and medical sexuology have led to a substantial increase of the proportions of pregnancy achieved by males with ejaculation disorders or anorgasmy. Impairment in libido and excitement usually has a psychic cause, apart from rare endocrinological abnormalities such as hyperprolactinaemia and androgen depletion. Another possible cause is chronic use of certain drugs. Causes of erection disorders can be classified on the basis of psychogenous, vascular and neurogenous factors. Ejaculation disorders are caused by embryonal anomalies, neurological disorders and use of certain (psychoactive) pharmaceutical agents. Collecting sperm proves to be virtually always possible. According to current views, the treatment of infertility in ejaculation disorders or anorgasmy should be if possible, elimination of the primary cause or else: in-vitro fertilisation (IVF)/intracytoplasmatic sperm injection (ICSI) with semen obtained after processing a retrograde ejaculate or by means of vibro-ejaculation or electro-ejaculation.

Ejaculation↗

[High-flow priapism: a rare, easily treatable disorder with excellent prognosis].

Four patients, men aged 33, 37, 37 and 12 years, were examined because of priapism following trauma. In all four high-flow priapism was diagnosed, based on intracavernous blood gas analysis and selective angiography. One of the men aged 37 was subsequently found to be suffering from low-flow priapism caused by chronic myeloid leukaemia (the blood gas analysis had been performed after decompression of the cavernous body). Two other patients were treated by selective internal pudendal artery embolisation. In the fourth, who developed a vascular spasm at angiography, embolisation was not performed: he recovered spontaneously. In contrast to high-flow priapism, low-flow priapism is an urological emergency for diagnosis and treatment to prevent permanent impotence.

Adult↗

Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic.

Intracytoplasmic sperm injection (ICSI) is a successful treatment option for severe male infertility, although the aetiology of the disorder remains unclear in most cases. Recently, microdeletions in the AZF region of the Y chromosome have been detected in men with azoospermia or severe oligozoospermia. In this study we investigated the prevalence of microdeletions in the AZF region of the Y chromosome in a population of men undergoing ICSI, and looked for clinical characteristics of men with and without this deletion. Blood was drawn from 164 men, who were on the waiting list for ICSI treatment: 19 were azoospermic, 111 oligozoospermic and 34 normozoospermic (after previous total fertilization failure). A total of 100 men with proven fertility served as a control. Microdeletions in the AZFc region were present in seven of the 111 oligozoospermic men (6.3%). Compared with oligozoospermic men without microdeletions, men with microdeletions had a lower concentration of follicle stimulating hormone (FSH), a lower number of motile spermatozoa and a lower frequency of abnormal findings at andrological history or examination. No microdeletions were found in the azoospermic, normozoospermic and control groups. In conclusion, microdeletions in the AZFc region are relatively frequently found in men with severe unexplained oligozoospermia. In the ICSI era this finding has an important impact because this form of male infertility is now potentially hereditary. Therefore we recommend DNA screening (and genetic counselling) before ICSI, especially in men with normal FSH, severe oligozoospermia and no abnormal clinical andrological findings.

Case-Control Studies↗

Urological complications in renal transplantation. A comparison between living-related and cadaveric grafts.

OBJECTIVE: Since 1989 the percentage of living-related donor renal transplantations has increased considerably at our institution. We compared the incidence of urological complications in the living-related donor transplantation (LRDT) group and the cadaveric donor transplantation (CDT) group. METHODS: Between September 1989 and September 1994, 534 consecutive patients underwent a renal transplantation. During that period, the percentage of LRDT increased from 10 to 25 (mean: 14.8) per year. In all patients a transvesical ureteroneocystostomy without antireflux mechanism was performed. RESULT: A urological complication developed in 64 (11.9%) of the recipients (obstruction in 6.3%; leakage in 5.6%). In 41 (7.7%) patients the complication was transitory and could be managed with minimal invasive measures such as a percutaneous nephrostomy (n = 34), drainage of a paraurethral fluid collection (n = 13), transurethral bladder drainage (n = 3) or a combination of these. In 23 (4.3%) of the recipients a secondary urological intervention such as a pyeloureterostomy (n = 21) or percutaneous dilatation of a ureteral stricture was necessary. The incidence of obstruction was equal in the LRDT and CDT groups, whereas leakage was more frequently encountered in the LRDT group (11.4 vs. 4.6%, p < 0.05). Transplant survival after 1 year was significantly better in the LRDT group than in the CDT group (97 vs. 77%, p < 0.001). CONCLUSION: The risk of leakage is higher in living-related donor kidney transplantations. Urological complications, however, do not impair graft survival.

Adult↗

Anterograde percutaneous treatment of ureterointestinal strictures following urinary diversion.

OBJECTIVE: The incidence of ureterointestinal strictures following urinary diversion ranges from 4 to 8%. Traditionally, the treatment consists of open ureteral reimplantation. During the last decade, however, percutaneous techniques have gained increased interest for treatment of these strictures. We evaluated the outcome of anterograde percutaneous treatment of ureterointestinal strictures after urinary diversion. METHODS: Since 1985, we attempted treatment of 15 ureterointestinal strictures, either by percutaneous anterograde dilatation (n = 10) or cold-knife incision (n = 2). In 3 patients the stricture could not be passed with a guide wire, precluding percutaneous treatment. Anterograde dilatation was performed with semirigid fascial dilators in 6 patients and additionally with a Grüntzig balloon catheter in 4. Routinely, following a successful procedure, a 12-Fr multihole stent was left in place for 6 weeks. RESULTS: Restenosis was seen in 4 patients 2, 2, 19, and 36 months, respectively following the procedure. In 8 patients no stenosis developed so far (follow-up 8-96 months). Morbidity after the procedure consisted of fever after nephrostomy puncture in 1 patient and stent occlusion in another. Both were managed conservatively. CONCLUSION: Anterograde percutaneous treatment of ureterointestinal strictures after urinary diversion is a safe primary procedure with a permanent success rate in half of the patients (53%).

Adolescent↗

The post-investigation questionnaire (PIO-R): a practical instrument to assess erectile response after intracavernous injection.

Erectile response to intracavernous pharmacological stimulation is highly susceptible to stress and anxiety provoked by the test-situation. To reduce false-positive diagnosis of veno-occlusive dysfunction and to limit the need for high-dosage pharmacotesting, we developed the Post-Investigation Questionnaire (PIQ-R), a self-report instrument to assess erectile response to pharmacological stimulation after the patient has left the office. In this study veno-occlusive sufficiency was not demonstrated in 80 of 105 patients with erectile dysfunction at the time of pharmaco-penile duplex ultrasonography. PIQ-R detected sufficient erectile response in 40 of these patients, thus reducing false-positive diagnosis of veno-occlusive dysfunction by 50%. We also found that reports of sexual activity after investigation increased interest in auto-injection therapy. PIQ-R is a practical self-report measure to assess erectile response after clinical pharmacotesting, and to more carefully select patients for auto-injection therapy.

Erectile Dysfunction↗

Investigation of erectile dysfunction. Diagnostic testing for vascular factors in erectile dysfunction.

To date, several accurate tests for diagnosing vascular ED may be chosen. It is necessary to be well aware of the purpose of testing: global assessment of erectile capacity in preparation for auto-injection therapy, or detailed assessment of arterial and erectile response in preparation for surgical treatment. Pharmacotesting may be sufficient for the majority of patients. Other, more invasive tests are reserved for preparing surgical treatment or scientific studies.

Humans↗

Comparison of biothesiometry and neuro-urophysiological investigations for the clinical evaluation of patients with erectile dysfunction.

In the literature the determination of the vibration sensitivity threshold of the penile glans by means of biothesiometry has been introduced as a cost-effective office test for the evaluation of penile neuropathy in impotent men. At our facility we have gained extensive experience with neuro-urophysiological tests for the evaluation of penile innervation. These neuro-urophysiological tests have the disadvantage of complexity, invasiveness and time consumption. In our study both methods were compared in 31 impotent patients. The results showed that penile glans biothesiometry yields consistent results when measurements are repeated during 1 session. However, no relationship was found between the outcome of penile glans biothesiometry and neuro-urophysiological tests of the dorsal penile nerve, which is probably due to the fact that vibration is not an adequate stimulus to the skin of the penile glans that contains free nerve endings (that is pain receptors) only, and hardly any vibration receptors. We conclude that biothesiometric investigation of penile glans innervation is unsuited for the evaluation of penile innervation and cannot replace neuro-urophysiological tests.

Erectile Dysfunction↗

Predictors of success with neuromodulation in lower urinary tract dysfunction: results of trial stimulation in 100 patients.

Chronic lower urinary tract dysfunction can be treated by sacral neuro-stimulation. Clinical parameters for selection of patients for this expensive and invasive treatment modality are not well defined to date. Therefore, before implantation of a permanent stimulator, the effect is tested by temporary implantation of a wire electrode connected to an external stimulator. According to the literature, many patients do not respond during temporary implantation and a mean of 25% of the patients with a permanent stimulator implanted fail to respond as well. To improve patient selection, we attempted to define clinical parameters to predict the outcome of sacral neuro-stimulation in 100 consecutive patients who were tested with temporary sacral stimulation. A total of 34 patients achieved a complete cure on trial stimulation. It appeared that detrusor overactivity and urethral instability responded best but they were not predictors of success. We conclude that neither gender, patient age, history nor diagnosis are predictors of success in sacral neuro-stimulation of lower urinary tract dysfunction.

Adolescent↗