Purpose: To report a family in which three siblings have unilateral late-onset Brown syndrome. Methods: The entire nuclear family underwent ophthalmologic evaluation. Orbital imaging and systemic workup were obtained to rule out local or systemic causes. Historic information was obtained from unavailable family members. The family's Brown syndrome trait was analyzed for linkage to the known congenital fibrosis syndrome loci and the CFEOM2 gene, ARIX , was sequenced in affected individuals. Results: All affected siblings developed left-sided Brown syndrome, worse on awakening, at 12–13 years of age. No evidence of Brown syndrome could be identified in other family members, either by exam or history. No abnormalities of the trochlear-tendon complex could be documented. Haplotype analysis of the Brown syndrome phenotype was consistent with recessive inheritance at the DURSI locus and dominant inheritance with reduced penetrance at the DURSI, DURS2, and FEOMI loci. No mutations were detected in CFEOM2 gene, ARIX . Conclusions: We propose that a genetically determined predisposition to Brown syndrome is likely responsible for the observed manifestations in this family and that late age of onset and intermittent manifestations do not distinguish acquired from hereditary Brown syndrome. The pattern of inheritance of the Brown phenotype in this family could be either autosomal recessive or autosomal dominant with reduced penetrance. Our analysis only permitted the exclusion of the FEOM3 locus and the FEOM2 gene, ARIX . Future genetic studies of additional Brown syndrome families should shed additional light on the genetic basis of this disorder. 相似文献
IntroductionHealthy sexual function during pregnancy and after childbirth is one of the cornerstones for couples to evolve from partners to parents.AimThe aim of our review is to evaluate the available evidence and define present knowledge about female sexual function during pregnancy and after childbirth.MethodsPubMed was searched for articles on sexual function during pregnancy and after childbirth, published from 1960 up to date. The most relevant articles have been reviewed and included.Main Outcome MeasuresThe main outcome is the review of the effect of pregnancy, delivery, and postpartum on female sexuality.ResultsA total of 48 articles which specifically addressed this topic were included. Sexual function was found to have a significant global decline during pregnancy, particularly in the third trimester and this persisted for 3–6 months following delivery. The lack of adequate information about sex in pregnancy and concerns about the possible adverse obstetric outcomes are the most relevant factors responsible for the avoidance of sexual activity during pregnancy. Breast-feeding, dyspareunia, and postpartum pelvic floor dysfunction were reported as possible causes for the delay in resuming sexual intercourses after childbirth.ConclusionsCouples should be informed about the decline of libido, desire and orgasm, commonly encountered during pregnancy, particularly in the last trimester, and puerperium which may lead to reduction in sexual intercourse frequency. Serati M, Salvatore S, Siesto G, Cattoni E, Zanirato M, Khullar V, Cromi A, Ghezzi F, and Bolis P. Female sexual function during pregnancy and after childbirth.相似文献
COVID-19 pandemic dramatically impacted transplantation landscape. Scientific societies recommend against the use of donors with active SARS-CoV-2 infection. Italian Transplant Authority recommended to test recipients/donors for SARS-CoV-2-RNA immediately before liver transplant (LT) and, starting from November 2020, grafts from deceased donors with active SARS-CoV-2 infection were allowed to be considered for urgent-need transplant candidates with active/resolved COVID-19. We present the results of the first 10 LTs with active COVID-19 donors within an Italian multicenter series. Only two recipients had a positive molecular test at LT and one of them remained positive up to 21 days post-LT. None of the other eight recipients was found to be SARS-CoV-2 positive during follow-up. IgG against SARS-CoV-2 at LT were positive in 80% (8/10) of recipients, and 71% (5/7) showed neutralizing antibodies, expression of protective immunity related to recent COVID-19. In addition, testing for SARS-CoV-2 RNA on donors’ liver biopsy at transplantation was negative in 100% (9/9), suggesting a very low risk of transmission with LT. Immunosuppression regimen remained unchanged, according to standard protocol. Despite the small number of cases, these data suggest that transplanting livers from donors with active COVID-19 in informed candidates with SARS-CoV-2 immunity, might contribute to safely increase the donor pool.
The advent of triple therapy (TT) with first-generation protease inhibitors boceprevir (BOC) and telaprevir (TVR) in addition to pegylated interferon and ribavirin resulted in a significant gain in terms of sustained virological response (SVR) when treating naive or previous treated patients with genotype 1 (G1) chronic hepatitis C (CHC). This gain is partly balanced by the increased complexity of treatment and by the raised costs and risks of therapy, making necessary to optimize the indication to TT.Specifically, the identification of patient needing to TT over DT, the choice of the more correct therapeutic approach according to baseline and on treatment SVR predictors, and the timing of antiviral treatment, appear key issues to evaluate when considering TVR or BOC-based therapies.Along this line, further efforts aimed to optimize the current TT regimens are still needed, especially in under-represented groups of patients in phase 3 studies such as those with cirrhosis, where post-marketing data are giving interesting evidences. 相似文献