Renal impairment in Alport syndrome pregnant woman: Case report and review of the literature.

Pregnant women affected by Alport syndrome often struggle with worsening of renal function during pregnancy. We focused the attention on the optimal management of the kidney disease in these women in order to avoid maternal-fetal complications.

Sexual function and quality of life of women adopting the levonorgestrel-releasing intrauterine system (LNG-IUS 13.5 mg) after abortion for unintended pregnancy.

PURPOSE: The aim of the study was to investigate the impact of the long-acting reversible contraception (LARC) levonorgestrel-releasing intrauterine system (LNG-IUS 13.5 mg) on sexual function and quality of life (QoL) in women after having undergone abortion for unintended pregnancy. METHODS: In a prospective controlled study, 128 women aged 16-35 years received counseling to adopt LNG-IUS contraception after termination of pregnancy. The Visual Analog Scale (VAS), the Short Form-36 questionnaire (SF-36), the Female Sexual Function Index (FSFI) and the Female Sexual Distress Scale (FSDS) were used to investigate, respectively, pelvic pain levels, QoL, sexual function and sexual distress of these women at baseline (T0) and at 6 (T1) and 12 (T2) months after LNG-IUS placement. RESULTS: Sixty-six (51.6%) women adopted a SARC method, mainly because of the cost of the LNG-IUS. They constituted the control group. The study group consisted of 62 (48.4%) women. Improvement of QoL was observed at T1 (p < .05) and T2 (p < .01). Moreover, sexual function improved and dyspareunia decreased over the study period compared to baseline (p < .001). Dysmenorrhea measured by VAS improved at T1 and at T2 (p < .001). The women of the control group did not experience statistically significant changes at T1 and T2 compared to T0 (p = NS). CONCLUSIONS: Women who underwent termination of pregnancy experienced positive changes in QoL and sexual function during LNG-IUS use. These results have to be confirmed in larger studies. However, not all women could adopt the LNG-IUS because of the cost of the contraceptive.

Vaginal health of postmenopausal women on nutraceutical containing equol.

OBJECTIVE: The aim of the study was to evaluate the effects of nutraceuticals containing equol on vaginal health of postmenopausal women with vulvovaginal symptoms and dyspareunia. METHODS: One hundred twenty-six natural postmenopausal women on +1b +1c (2 and 3-6 y after the final menstrual period, respectively) of the Stages of Reproductive Aging Workshop were enrolled in a nonrandomized trial. Of these, 72 women accepted to use nutraceutical (group A). The remaining 54 women refused the treatment and participated as the control group (group B). Group A was prescribed one tablet daily to take orally, for 8 months. All assessments were made at baseline and at 4 and 8 months. Determination of vaginal maturation index (VMI), evaluation of vaginal pH, and assessment of vaginal atrophy symptoms by the vaginal health index (VHI) were carried out. Dyspareunia score was also measured. RESULTS: Group A had a significant increase in VMI (68 ±â€Š5 vs 58 ±â€Š8) and improvement of vaginal pH (4.1 ±â€Š1.3 vs 5.1 ±â€Š1.7) compared with baseline, mainly after 8 months of treatment (P < 0.001). Group A had an improvement of VHI after 4 (13 ±â€Š3, P < 0.01) and 8 (16 ±â€Š2, P < 0.001) months of nutraceutical intake. Dyspareunia reduced after 8 months (5.1 ±â€Š1.3 vs 3.8 ±â€Š1.2, P < 0.001) but not after 4 months (4.7 ±â€Š1.1, P = 0.06) of treatment. Group B showed no changes from baseline evaluation (P = 0.22). CONCLUSIONS: Nutraceuticals containing equol could be effective in modulating postmenopausal symptoms, particularly vaginal symptoms, and could be well accepted by the women who usually do not wish to use hormone therapy or cannot use it for medical reasons.

Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients.

BACKGROUND: The p.Leu1077Pro CFTR mutation was firstly described in 1992 as a mild allele that confers a pancreatic sufficiency phenotype but the information collected in database CFTR2 lead to consider p.Leu1077Pro as a severe CF mutation. Although it is typical of Southern Italy, p.Leu1077Pro is not included in the mutation panel firstly tested in individuals originated from this area. The aim of our study was to describe prevalence and clinical features in patients bearing this mutation followed in our Cystic Fibrosis Centre to demonstrate that this mutation should be included in the mutation panel firstly tested in patients originated from Southern Italy. FINDINGS: We reviewed data from a cohort of 111 cystic fibrosis patients. 4 patients who were heterozygous for the p.Leu1077Pro mutation were included in the study.In our Cystic Fibrosis Centre, the prevalence of p.Leu1077Pro is 3.6% among all mutations. All patients had positive sweat test values, pancreatic insufficiency and pulmonary exacerbations. One out of four patients even showed both FEV1 and FVC values significantly below the normal range, the presence of bronchiectasis and chronic Pseudomonas aeruginosa colonization. CONCLUSIONS: We found that the p.Leu1077Pro CFTR mutation is associated with a classic CF phenotype confirming what is reported in CFTR2 database. The relatively high prevalence of p.Leu1077Pro associated with the severe clinical course of the disease in patients bearing this mutation is of interest for genetic counselling purposes, as it should be part of mutation panel to be tested in individuals originated from Southern Italy.