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F Pepe

Publications and source records attributed to F Pepe.

At least 19 recordsLinked to original sources

Liquid biopsy: a new window on the BRCA genes.

The Breast Cancer Susceptibility Gene (BRCA)-associated tumors represent a constantly evolving and intriguing scenario in oncology, in which the availability of novel systemic treatment, mainly including the poly (ADP-ribose) polymerase (PARP) inhibitors, has enabled an improved survival benefit in clinical subgroups. The expanding regulatory approvals of PARP inhibitors have inevitably reshaped the clinical indications for BRCA testing, moving the BRCA1/2 profiling from the traditional and preventive workflows to therapeutic paths. Despite advances in technology and treatment, substantial limitations remain in current genetic and genomic tools for the detection of deleterious BRCA1/2 variants. Germline and tumor tissue testing provide only a snapshot of a patient's disease, failing to capture the dynamic and longitudinal aspects of tumor clonal evolution. In this scenario, liquid biopsy (LB) profiling of BRCA1/2 genes, primarily as circulating tumor DNA, represents a highly active area of research potentially affecting many aspects of cancer screening, diagnosis, and monitoring in individuals who are carriers of BRCA1/2 deleterious variants. Beyond the attractive potential to surrogate the tumor tissue testing, to overcome the cancer spatial and temporal heterogeneity, and to monitor the tumor mutational profile over time, accurately detecting all clinically relevant BRCA genetic variants and epigenetic modifications using LB remains technically challenging.

BRCA1/2

[Stress urinary incontinence in women. Our experience with 218 cases].

From November 1992 to March 1994, in the Gynaecological ward of the Obstetrical and Gynaecological section of Cannizzaro Hospital, 218 patients suffering from urinary stress incontinence (U.S.I.) were observed. Using computerized clinical cards, U.S.I. was found in the 71.79% cases. From the clinical evaluation 38.39% of patients were found to be suffering from 1st degree bladder prolapse, 34.82% from 2nd degree bladder prolapse and 16.97% from, 3rd degree. 9.82% of the patients did not manifest signs of bladder prolapse. Therapy was mainly surgical. Burch colposuspension was carried out on 65 patients. When necessary a total hysterectomy and perineal plastic surgery was carried out. A Perrin-Leger bladder neck suspension was carried out on 10 patients and a Pereyra-Raz on 5. Given the varied aspects of U.S.I., the Authors would conclude that the best results are obtained by combining medical, surgical and rehabilitative treatment.

Adult

[Physiopathology of maternal and feto-neonatal thyroid in pregnant women with endemic goiter].

Endemic goitre is a socially important disease in many regions of Italy. In conditions of euthyroidism, the course of pregnancy and perinatal outcome are not burdened by significant complications. It is useful to control thyroid function and to start L-thyroxine therapy in order to avoid any further increase in thyroid size owing to the goitrogenic effect of pregnancy and to avoid transient hypothyroidism and the nodular evolution of goitre. Recent studies appear to indicate a possible physiological role for thyroid hormones in the development of the fetal CNS as early as conception, an additional motive for the administration of thyroxine in order to prevent pathologies caused by thyroid hormone deficiency in utero.

Adult

[Mediterranean anemia in 124 Sicilian pregnant women].

INTRODUCTION AND AIMS: The aim of this study was to verify knowledge of beta-thalassemia in a group of Sicilian puerpere. METHODS: The study was performed in a group of 124 pregnant women chosen at random from 2769 who gave birth in 1995 in the third trimester of pregnancy at the Specialised Maternity Hospital of Santo Bambino in Catania. RESULTS: A total of 124 puerpere replied to the questionnaire out of 124 interviewed. Their age ranged from 15 to 46 years old; the most frequent age group was 20-35 years old (81 cases-65.4%). 69.3% (86 cases) were married, 5.6% (7 cases) were separated or divorced, 24.9% (31 cases) were single or living with partners. The level of education was mainly lower (39.6%-49 cases) and upper (26.6%-33 cases) secondary school; there were few cases of illiteracy (3.2%-4 cases). The women were predominantly workers (25%-31 cases), employees (37.1%-41 cases) and in 14.4% (18 cases) neither of the couple worked. 4% (5 cases) of women lived alone. 73.3% (91 cases) reported that they knew what Mediterranean anemia was, 85% (35 cases) had recently spoken about this pathology with their doctor, 57.2% (71 cases) with their gynecologist. 36.2% (45 cases) knew the meaning of hemoglobinophoresis. 25% (31 cases) replied in the affirmative to the question regarding the hemoglobinophoresis test, 28.5% (35 cases) were unable to answer and 46.7% (58 cases) replied negatively. 11.2% (14 cases) of the puerperae had been informed about this disease when they were under 20, 39.5% (49 cases) between 20 and 35 years old, and 0.80% (1 case) after 36 years old. 36.2% of those interviewed (45 cases) responded correctly to the question "when does a carrier of Mediterranean anemia risk producing children suffering from a severe blood pathology?".

Adult

[Volocimetric evaluation of spermatic vessels with echo color doppler in patients with idiopathic varicocele].

BACKGROUND AND AIMS: There is a high incidence of varicocele or dilatation of the spermatic vessels associated with reflux in the male population varying, according to statistics, from 4.5 to 30.7%. Among the numerous hypotheses put forward to explain infertility in approximately 50% of patients with varicocele, it has recently been shown that there is an increased concentration of noradrenalin in the spermatic vessel which might be responsible for chronic arterial vasoconstriction affecting the gonads, leading to endothelial hyperplasia and consequent infertility. MATERIALS AND METHODS: In this study the authors have evaluated the bilateral flow of spermatic arteries at the level of the scrotum in patients with varicocele and in the healthy (varicocele-free) population with normal and hypospermatogenesis. RESULTS: In all groups and in the absence of other major pathologies (including arterial hypertension), no significant differences were found in systolic peak velocity (SPV) in relation to the presence or otherwise of varicocele and the degree of reflux. Mean SPV ranged between 3.5 and 4 cm/sec in patients with hypo- and/or normal zoospermia both in the varicocele and healthy population. CONCLUSIONS: In line with other authors, we feel that despite the lack of substantial differences in arterial flow in the patients examined, it is not possible at present to explore the testicular microcirculation and possible hypoperfusion using eco color-Doppler, in spite of the fact that the method shows a high level of diagnostic accuracy in the diagnosis of phlogistic pathologies and/or twisting of the spermatic cord. New approaches might be provided through the improved study of the microcirculation using power Doppler which appears to be more sensitive than eco color-Doppler in visualizing small intraparenchymal vessels.

Adolescent

[Incidence of scrotal disease diagnosed with ultrasonography in 60 asymptomatic patients over 70 years of age].

The aim of this study is to detect by ultrasounds the presence of scrotal pathology in a selected group of elderly men asymptomatic for scrotal pathology. From September 1990 to September 1992, 60 patients aged between 70 and 86 years (mean age 78 years) who were seen in the Department of Medicine for non-urogenital diseases were studied by 7.5 MHz linear probe. In 51.6% of patients (31 cases) an ultrasound pathology was detected with prevalence of cystic pathology of the epididymis (15 cases, 25%); in 12 patients (20%) more echographic pathologies were detected. The following abnormalities were observed: 3 cases of enlargement of the scrotal wall, 6 cases of left varicocele, 15 cases of hydrocele, 1 intratesticular area with altered echostructural pattern, 3 intraparenchymal cysts of the testis, 3 retractile testes, 2 dilatations of intratesticular blood-vessels, 15 cysts of the epididymis and 12 cases of increased size of the head of the epididymis. The authors discuss the results and conclude that high incidence of epididymis and testicular nonmalignant pathology are present in their patients; the authors suggest periodical clinical examination and, in selected patients, examination by ultrasound of the genital apparatus, in elderly patients might be useful because often scrotal pathology might be underestimated for socio-cultural reasons.

Aged

[Perinatal and maternal pathology in 38 pregnant women with endemic goiter].

In a group of 38 pregnant women with primary, uni- or multinodular non-toxic endemic goitre, who were clinically euthyroid, 7.8% (3 cases) had previously undergone strumectomy for benign pathologies of the goitre and 10.5% (4 cases) received L-thyroxine therapy during pregnancy at a dose of 50 or 100 micrograms/day; during the course of pregnancy goitre was asymptomatic in 37 women (97.4%) and an endocystic hemorrhage occurred in 1 (2.6%) case. The goitre increased in volume in 42.1% (16 cases) of pregnant women monitored to term. Out of 20 patients undergoing ELISA of hormonal levels, 6 (30%) revealed TSH concentration more than twice the maximum normal value with normal concentrations of other thyroid hormones. There was a significant inverse correlation (r = 0.525) between T4 and TSH. Birth at term occurred at 39.9 +/- 2.6 weeks and was spontaneous in 78.9% of cases (30 cases) and laparotomic in 21.1% (8 cases). Perinatal pathologies included: 1 case (2.6%) of endo-uterine fetal death, 1 case of oligoamnios and 1 of IUGR. Funicular pathologies were observed in 13.1% of patients (5 cases). The Apgar index was > 8 in the 37 live births. The mean weight of male and female neonates and neonates from nulliparas and pluriparas was within the norm. When the data examined were compared to the results of the control group it was seen that there were no statistically significant differences.

Adult

[Obstetric and perinatal implications of thyroid pathology in pregnancy. Review of the literature].

The authors review the published data on thyroid pathology and pregnancy. Attention is focused in particular on alterations in thyroid function and the iodine metabolism during pregnancy, thyroid interactions between the fetus, the placenta and the maternal organism, the control of fetal thyroid hormonal production, thyroid hormones and fetal development, endemic goitre and pregnancy, endemic cretinism, hypothyroidism in pregnancy, mixematous coma, hyperthyroidism in pregnancy, thyroid cancer in pregnancy and perinatal thyroid disease (hypothyroidism and hyperthyroidism).

Adult

[Sexuality of the aging male].

The paper discusses data reported in the literature concerning the sexual behaviour of elderly males and examines the role played by anatomical alterations to the genital tract, erection physiology and psycho-physical performance. The Authors review the current possibilities of treatment for sexual therapy in elderly males.

Aged

[Breast feeding and pleasure].

Thirty-six Sicilian women (mean age 26.2 years, range 18-34) who had chosen to breastfeed their newborn babies were included in the study. A semi-structured questionnaire was used by a pediatrician to interview all subjects 4 months after the birth. 94.7% of the women interviewed (36 cases) said that they had derived pleasure from breastfeeding while 5.3% (2 cases) stated that they had not. 44.7% (15 cases) experienced strong uterine contractions (described ad "cramps") during breastfeeding (these were described as occurring "often" in ten cases and "rarely" in five cases); in 6 (35.3%) out of 17 patients "uterine cramps" were a cause of "pleasure", whereas in the rest (64.7%) they were described as "bothersome" (5 cases), "painful" (2 cases) or "indifferent" (4 cases). If sexual pleasure is derived from the breastfeeding one's offspring, it may be to a certain extent represent, together with the joy of bringing up children, a compensatory substitute for the couple's sex life following the change of the woman's centre of attention from the sexual pole to that of the continuation of the species.

Breast Feeding

[Estrogen receptors in the lower uterine segment].

The presence and quantity of specific cytoplasmatic receptors for E2 were analysed in the smooth muscle cells of the lower uterine segment in 14 patients (mean age 29.5 years, mean parity 2.9) who had a normal pregnancy and delivered at term. Myometrial tissue (greater than 150 mg) was taken from the median zone of the front wall of the lower uterus during cesarian section with a transversal incision on the lower segment at the level of the vescico-uterine fold. Cesarian section was electively chosen by 10 patients before the onset of labour and was used in 4 cases due to complications arising during labour. In order to carry out the receptor assay 100 ml of cytosolic fraction were incubated for 24 h with increasing concentrations of 0.38 microCu/ml to 2.5 microCu/ml of E2 tired in presence or absence of approximately 100-fold higher concentrations of unlabelled E2. Recorded cpm were compared to a standard reference curve. There was no significant difference between the radioactivity levels of the cytosolic fraction measured as total bound or with non-specific bound. Results are fully discussed in the paper.

Adult

Frequency of sexual dysfunctions among Roman Catholic women.

The frequency and type of sexual dysfunctions in healthy and sexually active Roman Catholic church-goers was compared with non-church-goers. All the women had had a steady psychosexual relationship with only one partner for at least one year. The sexual dysfunctions investigated were related only to vaginal intercourse. Although there is no significant difference in the frequency and type of sexual dysfunctions, the Roman Catholic church-goers more frequently complained of unsatisfying sexual relationships (P less than 0.05) or were requested by their partner on a change in their own sexual behaviour (P less than 0.05). The possible correlations between religiosity and sexual health are discussed.

Adolescent

Coxsackie virus and urogenital pathology.

In 43 women (average age 49.6 years), and 70 men (average age 55.2 years) with pathology of the genito-urinary apparatus, seroantibodies to Coxsachie virus B were measured using the passive hemoagglutination method and the virus was isolated in the uterine. Viral isolation test was negative in all urine samples tested. Seropositivity for Coxsackie virus was reported in 26 women (60.46%) and in 51 men (72.85%). Positivity to B1 was 37.16% (42 cases), B2 in 38.05% (43 cases), and to B4 in 35.39% (40 cases). 17.69% (20 cases) of patients were seropositive to only one serotype, 17.69% (20 cases) to 5 serotypes, 14.15% (16 cases) to 3 serotypes, 9.73% (11 cases) to 2 serotypes, and 8.84% (10 cases) to 4 serotypes. B1, 2, 3, 4, 5 (25.97%; 20 cases) and B2, 3, 4, 5 (7.79%; 6 cases) were the most frequent associations. Seropositivity to Coxsackie virus was reported in 100% of patients (4 cases) with urethral caruncola, in 84.21% (16 cases out of 19) with cancer of the bladder, in 81.81% with cystitis (9 cases out of 11) and in 80% with prostatitis (8 out of 10 cases). In relation to sex, seropositivity was higher in males in cases of calculosis (75%; 9 cases out of 12 against 28.57%; 2 cases out of 7) and in cystitis (100%; 6 cases against 60%; 3 cases out of 5). Further studies are necessary to determine the clinical significance of serum Coxsackie virus antibodies in patients with urological pathology in the absence of urinary elimination of Coxsackie virus.

Antibodies, Viral

Sex during prepregnancy period. A study of 106 pluriparous women in relation to parity.

The authors study the correlation between sexual activity and parity in 106 pluriparous Sicilian women divided into 3 groups with parity, respectively, of 1 (57 cases), 2 (29 cases), and greater than or equal to 3 (20 cases). Sexual desire, frequency of coitus and orgasm, type of extracoital activity, preferred position during coitus, the partner who took the first initiative in sexual activity, and the contraceptive methods used were studied. The results show that in women of parity greater than or equal to 3 there is a significantly lower frequency of very frequent coitus, higher frequency of extravaginal sexual activity, and that the male more frequently took the first initiative in sexual intercourse.

Coitus

[Absence of sexual dysfunction does not mean that the couple does not need sexual counseling].

Two-hundred women with sexual dysfunction were compared with 160 without. The number of the practising religious (46.0% vs 28.8%; p less than 0.05), of married women (58.0% vs 47.8%; p greater than 0.05), widows (4.0% vs 0%; p less than 0.01) or the separated were found in significantly higher numbers. Nulliparity does not appear to be a risk factor in sexual dysfunction. The use of contraceptive technique such as the pill and the intrauterine device is significantly lower in women with sexual dysfunction. Also significantly higher is the number of women with sexual dysfunction who report that they are not satisfied with their sexual relationship (63.0% vs 6.2%; p less than 0.001) or who would like to change the sexual behaviour of their partner (50.0% vs 7.5%; p less than or equal to 0.001) or whose husband would like a change in the sexual behaviour of the partner (64.0% vs 10.0%; p less than or equal to 0.001). 7.5% of women without sexual dysfunction consider their relationship with the current partner to be unsatisfactory. Most of these women experience their partner's request as a "problem". In conclusion, the presence of sexual dysfunction is unacceptable to women in the majority of cases as it is accompanied by a negative opinion on the quality of the sexual relationship. It is the Authors' opinion that anamnesis of the sexual life of the couple should be offered to all women who have a gynaecological examination. The absence of sexual dysfunction does not necessarily mean that the women or the couple consider their sexual relationship to be sexually satisfactory or that they do not need or would not accept, if expressly asked, sexual counseling.

Adolescent

[Changes in the psychophysical experience of orgasm in pregnancy].

A semistructured questionnaire was used as the basis for an examination of qualitative and quantitative changes in orgasm among 200 pregnant women brought to term. The frequency of orgasm gradually diminished over the 9 months in most women, only occasionally increasing. A total of 149 women (79.5%) said they had felt no pain during orgasm, 20.5% reported increased pleasure or incomplete post-orgasmic resolution. It should be pointed out that none of the women had experienced painful orgasm prior to their pregnancy.

Female

Induction of abortion by PGF2 alpha in the second trimester of pregnancy.

The Authors evaluate the efficacy of the intravenous infusion of PGF2 alpha in the induction of abortion in the second trimester of pregnancy with live fetus (Italian Law no. 194/1978). Abortion occurred in 3 out of 11 (27.27%) nulliparous patients, and uterine curettage was necessary in 2 cases. The interval between administration of the drug and the beginning of uterine contractions was 31.42 +/- 14.15 minutes (range 10 to 35 minutes), the duration of infusion was 7.55 +/- 3.64 hours (range 7 to 9.15 hours), the interval between initiation of infusion and delivery was 8.10 +/- 2.60 hours (range 7 to 9.45 hours), and the dose administered was 20.23 +/- 3.75 mg (range 15 to 25 mg). Side effects were reported in 10 cases (90.90%), and in 5 cases these effects were caused by interruption of infusion. Abortion occurred in 7 out of 13 pluriparous patients (53.84%), and uterine curettage was necessary in 4 cases. The interval between administration of the drug and the beginning of uterine contractions was 20 +/- 12.24 minutes (range 20 to 45 minutes), the duration of infusion was 8.26 +/- 0.9 hours (range 3.10 to 16 hours), the interval between initiation of infusion and delivery was 8.40 +/- 0.8 hours (range 3.0 to 9.6 hours), and the dose administered was 19.28 +/- 5.34 mg (range 5 to 25 mg). Side effects were reported in 11 cases (84.61%), and in 6 cases these effects were caused by interruption of infusion.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Therapeutic