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Biomedical subjects

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

[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

Breast cancer. A review of 144 cases.

From 1970 to 1980 144 cases of breast cancer were diagnosed in this Department. Patient's age varied between 25 and 83 years with an average age of 51.5 years. 49 (42.98%) patients were in fertile age and 65 patients (57.01%) were in menopause. The incidence of cancer increased after 41 years and the maximal incidence was between 51 and 55 years. Married (117; 81.45%) and pluriparous (75; 65.78%) women prevailed. In the pluriparous the average parity was 4, and 35 (30.70%) pluriparous had greater than or equal to 4 siblings. In 38 cases (27.08%) the patient was nulliparous. In 100 cases (69.64%) diagnosis was made without evident cutaneous alteration. Left and right breasts were affected in 73 (50.69%) and 68 cases (48.21%) respectively. Cancer was bilateral in 3 cases (2.08%). The most frequent cancer localization was ESQ (70 cases; 48.61%). 1st stage was diagnosed in 64 cases (44.44%), 2nd stage in 57 cases (39.58%) and 3rd stage in 23 cases (15.97%). The 5 year survival rate after operation was 86.79% (46 cases), 48.97% (24 cases) and 26.31% (5 cases) in patients at 1st, 2nd and 3rd stage respectively. 13, 8 and 4 patients were lost at follow-up.

Adult

Sexual behaviour in relation to age: a study of 205 puerperal women.

Sexual desire, frequency of coitus, frequency of orgasm, which partner took the first sexual initiative, and the level of sexual satisfaction were studied in 205 women in puerperium in relation to age in the year preceding pregnancy and during pregnancy. It seems evident that sexual desire and the frequency of coitus and orgasm diminish during pregnancy independently of age. The group of younger women (16 to 20 years old) in our study maintained a relatively higher level of sexual activity especially in comparison to older women (36 to 40 years old). The number of women who took the first sexual initiative increased considerably in pregnancy.

Adolescent

Rectal carcinoid tumors. Report of two cases.

Two cases of rectal carcinoid tumors are reported. In the first case the endoscopic diagnosis was intramural rectal neoformation. At histology, rectal carcinoid tumor with infiltration of the muscularis mucosae was diagnosed. Abdominoperineal resection was performed. The patient is still living 3 years following surgery. In the second case, the endoscopic diagnosis was non-adenomatous polyp. Endoscopic polypectomy was performed. At histology, rectal carcinoid tumor was diagnosed. The patient is still living 2 years following surgery.

Carcinoid Tumor

Current aspects of gynecological pathology in postmenopause.

Between 1982 and 1984 330 women in postmenopause for at least one year were admitted to the First Clinic of Obstetrics and Gynecology, Catania University Medical School, Catania, Italy, with a frequency of 10.04% of gynecological admissions. The most frequent pathologies were metrorrhagia (32.72%; 108 cases) from an atrophic endometrium or glandular hyperplasia of the endometrium, vaginoperineal lacerations with cystorectocoele with or without urinary incontinence (10.90%; 36 cases), cancer (11.21%; 37 cases) and ovarian cystoma (11.21%; 37 cases), uterine prolapse (9.30%; 31 cases), and endometrial polyps (9.09%; 30 cases). Uterine fibromyoma (3.93%; 13 cases) and carcinoma of the portio (3.93%; 13 cases) were among the rare pathologies. Uterine pathologies were the most prevalent (68.78%; 227 cases), followed by ovarian (15.15%; 50 cases), pathology of involving the pelvic and perineal containment (10.90%; 36 cases), vulvar pathology (2.72%; 6 cases), and vaginal pathology (1.51%; 5 cases). Malignant neoplastic pathology was reported in 25.45% of cases (84 cases) consisting only of uterine cancer (47.61%; 40 cases) and ovarian cancer (45.23%; 38 cases). In comparison with the study performed by Cetroni in 1952 one notes a net reduction in the frequency of uterine prolapse (by about three times), and a smaller reduction in cancer of the uterine cervix with a slight increase in cervical polyps, endometrial cancer, and above all in metrorrhagia from atrophic endometrium or glandular hyperplasia of the endometrium.

Adult