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E Vicari

Publications and source records attributed to E Vicari.

79 records · Page 5Linked to original sources

Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene.

Microdeletions of the so-called azoospermia factor (AZF) locus of the Y chromosome long arm (Yq) have been recognized as an etiological factor of severe oligozoospermia or azoospermia. Because of this, patients affected are generally infertile unless assisted reproductive techniques are used. We report the case of an oligozoospermic patient (proband) who inherited an extensive Yq microdeletion from his father through a spontaneous pregnancy. Leukocyte DNA was extracted using a commercially available kit. A total of 22 pairs of sequence-tagged site (STSs) based primers, spanning the entire AZF region, were used for the screening. Both the proband and his father carried a Yq microdeletion of the most distal AZF subregion (AZFc) where the deleted in azoospermia (DAZ) gene is located. The proband's father was a sixty-nine-yr-old man who had 3 other children, 2 females and 1 male. This case adds further evidence that the deletion of the DAZ gene is associated with different phenotypic expressions, including normal fertility.

Adult↗

Sperm aneuploidy in infertile men.

A recent line of research has shown that infertile male patients produce cytogenetically abnormal spermatozoa, despite a normal somatic karyotype, as a result of an altered intra-testicular environment that affects negatively the mechanisms controlling chromosome segregation during cell division. The rate of aneuploid spermatozoa production is significantly higher in patients with abnormal sperm parameters compared with those of normozoospermic subjects or infertile patients with normal sperm parameters. All chromosomes are subject to aneuploidy, although at a different rate; the heterochromosomes are more often altered than are the autosomes. A negative correlation has been reported to exist between aneuploidy and the main sperm parameters, suggesting that greater testicular damage is associated with a greater chance of chromosome malsegregation events. Abnormally-shaped spermatozoa are more likely to have chromosome abnormalities, particularly those with an enlarged head. More studies are necessary, however, to evaluate whether other types of sperm head abnormalities are also associated with an abnormal sperm chromosome complement. The possibility of retrieving testicular or epididymal spermatozoa in patients with azoospermia and using them in assisted reproduction techniques has prompted the evaluation of their chromosomal status. Studies have shown that testicular and epididymal spermatozoa have a greater rate of aneuploidy compared with that of ejaculated spermatozoa. Some authors have also shown that patients with non-obstructive azoospermia have a significantly higher sperm aneuploidy rate compared with that of patients with obstructive azoospermia. Sperm aneuploidy seems to have a negative impact on assisted reproduction technique outcome. Although it does not affect the fertilization rate, an elevated sperm aneuploidy rate is associated with a greater rate of pregnancy failure. Nevertheless, some patients with elevated sperm aneuploidy rate can still achieve a pregnancy, but with an increased risk of generating an aneuploid offspring. Thus, sperm aneuploidy evaluation is recommended in infertile patients with abnormal semen parameters, particularly if they undergo IVF programmes.

Aneuploidy↗

Incidence of extragenital vascular disease in patients with erectile dysfunction of arterial origin.

This research was carried out to evaluate the prevalence of carotid and/or lower limb artery abnormalities in patients with arterial erectile dysfunction (ED). To this end, patients with ED (Andrology Unit) or suspected peripheral atherosclerosis (Angiology Unit) underwent an independent and parallel echo-Duplex examination. The Andrology Unit examined 167 patients with ED of different etiologies: 52 of them had penile artery insufficiency and consequently their carotids and lower limb arteries had to be evaluated by means of echo-Doppler. In all, 36 out of the 46 patients with nonarterial organic ED and 22 out of the 69 patients with nonorganic ED underwent the same evaluation and served as controls. The Angiology Unit enrolled 457 ED patients who initially underwent echo-Doppler for suspected carotid and/or arterial leg atherosclerosis and subsequently dynamic echo-Doppler. Isolated penile artery insufficiency was found in 23.1 and 25% of the patients evaluated in the Angiology and Andrology Units, respectively. The remaining patients were shown to have ED associated with an atheroma or marked intima-media thickness of the carotid vessels and/or of leg arteries. The frequency of penile arterial insufficiency and of carotid and/or lower limb artery abnormalities was significantly higher (P < 0.01) compared to that found in patients with ED of nonarterial organic or psychogenic origin. Both Units found that the frequency of penile artery insufficiency and carotid or lower limb artery abnormalities was significantly higher than that of penile artery insufficiency alone or plus both carotid and lower limb artery abnormalities. This study showed that penile artery insufficiency is associated with carotid and/or lower limb artery ultrasound abnormalities in about 75% of the cases. Therefore, arterial ED may be regarded as a sign of a more generalized atherosclerosis.

Adult↗

Peak systolic velocity in patients with arterial erectile dysfunction and peripheral arterial disease.

The aim of this study is to evaluate whether penile peak systolic velocity (PSV) varies in patients with erectile dysfunction (ED) due to artery insufficiency associated with abnormalities in other arterial districts or not. To accomplish this, cavernous artery PSV was determined 10, 20 and 30 min after intracavernously administering alprostadil by means of echo-color Doppler to a total of 65 consecutive patients (age range 52-78 years). In all, 18 patients had ED alone (group A) and served as controls, 15 had ED plus atheroma plaques and/or marked intima-media thickness of the common carotid artery (group B); 17 had ED plus lower limb artery abnormalities; 17 had ED plus carotid and lower limb artery abnormalities (group D). Group B and C patients had a similar PSV, which turned out to be significantly lower than that in group A. Group D patients had the lowest PSV, which proved to be significantly lower than that in groups A, B and C. This study shows that a more generalized peripheral atherosclerotic process is associated with a severer penile artery insufficiency. Therefore, ED patients with a severe arterial insufficiency should undergo an extensive echo-duplex examination.

Aged↗

Relationship of inhibin serum level to bioactive and immunoreactive FSH in oligospermic and azoospermic patients.

The purpose of the study described here was to evaluate the relationship between inhibin (INH) and bioactive FSH (B-FSH) or immunoreactive FSH (I-FSH) in oligoazoospermic patients. To accomplish this, the authors measured serum levels of INH, I-FSH, B-FSH, LH and testosterone (T) in 98 male patients attending the andrology Centre at Malphighi Hospital (Bologna) for infertility workup. On the basis of the mean sperm concentration, patients with sperm output > or = 4 x 10(7) ml-1 (n = 30) formed the control group (group A), whereas oligozoospermic patients were divided arbitrarily into three groups. Sperm concentrations for these groups ranged as follows: B, 2-4 x 10(7) ml-1 (n = 14); C, 5 x 10(6)-2 x 10(7) ml-1 (n = 18); D, < 5 x 10(6) ml-1 (n = 17). In addition, the authors studied a group of patients with possible non-obstructive azoospermia (n = 19, group E), confirmed in 16 of them through testicular biopsy. There were no significant differences in serum levels of LH and T among groups. However, azoospermic patients had a significant reduction of the T/LH ratio. Similarly, B-FSH and B/I-FSH ratios were significantly elevated only in group E. INH serum levels did not show any appreciable changes among groups and in azoospermic patients INH correlated significantly and in a positive manner with I-FSH serum levels and negatively with B/I-FSH and T/LH ratios. Within the azoospermic patient group no consistent relationship was evident between INH serum concentration and various degrees of spermatogenetic arrest.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Effect of acetylcarnitine treatment in oligoasthenospermic patients.

Acetylcarnitine (AC), present in human spermatozoa and seminal fluid, plays an important role in sperm metabolism. To further investigate the effect of AC on sperm quality, AC (4 g/day) was given to 20 patients with idiopathic oliogasthenospermia for 60 days. AC had no effects on sperm density and total motility, but it did significantly increase progressive sperm motility (mean +/- SEM: 21.7 +/- 3.2% vs 38.2 +/- 4.7). The increment in sperm motility was sustained ( > or = 40%) in 12 patients (mean increment 2.7 fold). This parameter returned to basal value 4 months after therapy discontinuation. Five pregnancies occurred during treatment and only 2 during the 4 months follow-up ensuing therapy discontinuation.

Acetylcarnitine↗