Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the only clinical manifestation, or syndromic, if the hearing loss is accompanied by a collage of other clinical manifestations. Usher syndrome is a syndromic form of genetic hearing loss that is accompanied by impaired vision associated with retinitis pigmentosa and, in many cases, vestibular dysfunction. It is the most common cause of deaf-blindness. Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has shown promise in treating Usher-related retinitis pigmentosa. Here we review how the etiologies of Usher-related hearing loss make it a good candidate for gene therapy and discuss how various forms of gene therapy could be applied to Usher-related hearing loss.

PurposeIn this study, we evaluated the risk behaviors that are drivers of the HIV epidemic among adolescent girls and young women in Zambia using a focus group research technique.Subjects and methodsEighteen adolescent couples (n=18 females and 18 males) aged 16–24 participated in six focus groups discussions (3 per gender) convened at three health facilities in Lusaka, Zambia. Focus group moderators utilized a set of open-ended questions to guide the 60-minute sessions. The focus group audio recordings were transcribed, coded, and analyzed using qualitative content analysis in Nvivo 11.ResultsThree themes and four subthemes were identified relating to adolescent and young adult couples’ knowledge, views, and male partner attitudes toward intravaginal practices (IVPs). The first theme, knowledge and rationale for IVPs, consisted of the subthemes relating to why adolescents and young adult couples engage in IVPs and assessed their knowledge of health risks associated with IVPs. The second theme, attitudes toward IVPs, consisted of the subtheme willingness to stop or support partner to discontinue IVP and practices toward IVP and strategies for changing. The third theme, strategies for changing IVPs, consisted of the subtheme raise awareness.ConclusionIVPs used for cleaning purposes were perceived as essential to enhancing hygiene, health, and sexual satisfaction for both girls and boys. However, couples expressed concern about the health effects of IVPs used for tightening and a desire for learning more about this practice as well as stopping it.

Multiple mitochondrial dysfunction syndrome type 3 (MMDS3) is a rare mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in IBA57. Here, we describe a homozygous variant in IBA57, (NM_001010867.2): c.310G>T (p.Gly104Cys), in a 2-month-old infant of Cuban descent who presented with a one-month history of progressive hypotonia, weakness, and episodes of upgaze deviation. This is the first report of a patient homozygous for this variant and the first report of MMDS3 in a patient of Hispanic descent described to our knowledge. Using in silico tools, we found that the variant resides in a putative mutational hotspot located in the neighborhood of a key active ligand required for iron-sulfur cluster coordination. In addition, while previous case reports/series have reported the variable phenotypic features of the disease, the incidence of these features across the literature has not been well described. In order to construct a clearer global picture of the typical presentation of MMDS3, we reviewed 52 cases across the literature with respect to their clinical, biochemical, genotypic, and neuroradiographic features.