Medicine
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Case Reports
A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report.
Ciliopathies is a group of clinically and genetically overlapping disorders due to cilia abnormalities and multiple organ systems are involved in. ⋯ Polycystic ovarian syndrome and multiple subcutaneous cysts have never before been reported to be associated with ciliopathy. This finding could remind doctors to consider the possibility of ciliopathy disease for patients suffering from similar conditions. In addition, the phenotype of the patient differs from those of patients reported with the same mutations, which also reminds doctors that the clinical manifestation of a given mutation may show patient-specific differences. This case report extends the phenotypic spectrum of ciliopathy, and these findings might represent a new ciliopathy syndrome, which could facilitate the diagnosis of ciliopathies.
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Contraceptive use and sexual health behavior remain a prominent public health concern in South Africa. Despite many government interventions, unplanned pregnancies, number of abortions, and maternal mortality remain relatively high. Due to high pregnancy levels and the stigma associated with termination of pregnancy, more women turn to unsafe and illegal abortions despite the risks involved. Risky sexual behavior pose a serious risk of contracting HIV/AIDS. The main objective of this study is to map evidence on factors influencing contraceptive use and sexual behavior in South Africa. ⋯ We anticipate finding a considerable number of published articles presenting evidence on contraceptive use and sexual health behavior in South Africa. Findings of this scoping review will be disseminated electronically, in print, and through peer presentation, conferences, and congresses.
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Genetic abnormalities could account for 10% to 15% of male infertility cases, so increasing attention is being paid to gene mutations in this context. DNAH1 gene polymorphisms are highly correlated with astheno-teratozoospermia, but limited information has been reported on pathogenic variations in DNAH1 in the Chinese population. We explored 4 novel variations of the DNAH1 gene in Chinese infertile patients. ⋯ The other 4 novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic by in silico analysis. The variations g.52418050del and g.52430999_52431000del were detected in 1 patient who was more severe than another patient with the variation g.52430999_52431000del. Physicians should be aware of genetic variants in male infertility patients and DNAH1 mutations should be considered in patients with asthenospermia or azoospermia.
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Lactococcus lactis and Pediococcus pentosaceus are rare pathogens which rarely caused infections in humans. Several cases with L. lactis endocarditis have been reported in the literature, among them few were caused by L. lactis subsp. Lactis. Opportunistic P. pentosaceus infections were rarely reported. ⋯ Our patient had a long-period of antibiotic treatment with strategy alterations. Standard interpretation criteria of Clinical and Laboratory Standards Institute (CLSI) for L. lactis should be established, and molecular tests will increase the identification rate of L. lactis infections.
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This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better control the birth of major thalassemia child in Hakka population. Totally, 467 fetuses in at-risk pregnancies were collected from Meizhou people's hospital from January 2014 to December 2017. Genomic DNAs were extracted from peripheral blood of the couples and villus, amniotic fluid or cord blood of the fetuses. ⋯ Our findings provide key information for clinical genetic counseling of prenatal diagnosis for major thalassemia in Hakka pregnant women. Our work plays an important role in the prevention and control of thalassemia in Hakka population. We will also combine other techniques to further improve our molecular prenatal diagnostic capabilities, including the next-generation sequencing (NGS), Sanger sequencing and MLPA.