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Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and neurodegenerative disorders, but only in a few cases of developmental disorders. Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families. FADS comprises a spectrum of clinically and genetically heterogeneous disorders with congenital malformations related to impaired fetal movement. We show that genetic disruption of nup88 in zebrafish results in pleiotropic developmental defects reminiscent of those seen in affected human fetuses, including locomotor defects as well as defects at neuromuscular junctions. Phenotypic alterations become visible at distinct developmental stages, both in affected human fetuses and in zebrafish, whereas early stages of development are apparently normal. The zebrafish phenotypes caused by nup88 deficiency are rescued by expressing wild-type Nup88 but not the disease-linked mutant forms of Nup88. Furthermore, using human and mouse cell lines as well as immunohistochemistry on fetal muscle tissue, we demonstrate that NUP88 depletion affects rapsyn, a key regulator of the muscle nicotinic acetylcholine receptor at the neuromuscular junction. Together, our studies provide the first characterization of NUP88 in vertebrate development, expand our understanding of the molecular events causing FADS, and suggest that variants in NUP88 should be investigated in cases of FADS.

Background Globally, there is suboptimal coverage of antiretroviral treatment to treat and prevent HIV. It is crucial for individuals to know their partner’s HIV status so they may use all appropriate and available prevention tools. For sexual minority men in South Africa, a population known to face intersecting forms of marginalization including a disparate burden of HIV incidence, there are challenges to status sharing. Objective We explore perspectives of healthcare workers (HCW) with expertise providing services to sexual minority men to identify strategies to support HIV status sharing. Methods As part of a larger study designed to improve HIV-related health outcomes for sexual minority men, we conducted one focus group discussion (participant n = 4) and two in-depth-interviews with HCW. We used thematic analysis to synthesize qualitative themes and identify corresponding implications for interventions. Results HCW each had 5–23 years of experience. We identified three implementation considerations to support sharing of HIV status: (1) ensuring partner support for sharing status while circumventing risk of personal harms, (2) facilitating concordant couple-based peer support and belonging, and (3) leveraging the strengths of mass media as educational tools. Conclusion HCW highlighted that sharing that one is living with HIV is a sensitive and potentially dangerous process that can be managed by involving both partners in the process. This process may be supported by incorporating HIV status sharing narratives in popular media.

Background: Variation of the different components of the brachial plexus is fairly common and well documented. Some of these variations may have clinical consequences in terms of clinical manifestations or altering the surgical intervention plan while others may be benign with no functional or clinical consequences. Therefore, thorough reporting and knowledge of different anatomical variations is of utmost clinical importance. Method: During routine human anatomical dissection of the axilla and posterior triangle of the neck, an unusual C5 nerve branch caught our attention. After careful cleaning and thorough dissection of the brachial plexus, we realized the full details of this anomalous variant of C5 nerve branch. Results: Here, we report bilateral anatomical variance of the C5 nerve root which supplied the levator scapulae muscle (LSM) and superior slip of the serratus anterior (SSSA). This innervation was completely independent of the dorsal scapular (DSN) and long thoracic nerves (LTN), both of which existed bilaterally. However, on the right side, the LTN did not receive any contribution from C5, whereas on the left side the LTN did receive a contribution from C5. Conclusion: We believe this is one of the rare reports of a C5 nerve root having combined LSM and serratus anterior (SA) innervations bilaterally. As such, this finding may prove useful in clinical applications such as LTN injury, thoracic outlet syndrome, winged scapula, and surgical cases pertaining to the head and neck.

As COVID-19 cases increased during the first weeks of the pandemic in South Africa, the National Institute of Communicable Diseases requested assistance with epidemiologic and surveillance expertise from the US Centers for Disease Control and Prevention South Africa. By leveraging its existing relationship with the National Institute of Communicable Diseases for >2 months, the US Centers for Disease Control and Prevention South Africa supported data capture and file organization, data quality reviews, data analytics, laboratory strengthening, and the development and review of COVID-19 guidance This case study provides an account of the resources and the technical, logistical, and organizational capacity leveraged to support a rapid response to the COVID-19 pandemic in South Africa.

In South Africa, HIV prevalence for gay, bisexual, and men who have sex with men (GBMSM) is as high as 49.5%, yet only 25.7% are taking treatment, resulting in transmission risk between partners and the need for dyadic interventions for men in relationships. Through our preliminary research, we identified the evidence-based intervention Healthy Relationships (HR)—an HIV risk assessment and status disclosure intervention for those in relationships—to be tailored into videoconference format for partnered HIV-positive GBMSM in South Africa. The HR adaptation, called SOAR (Speaking Out & Allying Relationships), applied a human-centered design approach. In-depth interviews were conducted with HIV-positive GBMSM ( N = 15) to refine intervention preferences with results used to establish a beta SOAR. A trained interventionist conducted SOAR functionality ( n = 6) and usability ( n = 7) tests with separate invited groups composed of the original participants interviewed. Field logs, focus group discussions, and a study-specific preference survey were administered. Thematic analysis and descriptive statistics were completed with a convergent analytical approach used to understand usability. Overall experience of GBMSM in SOAR was good (69%) or excellent (31%). More than half of the participants (61%) rated using videoconferencing for SOAR as good, with 38% rating it as fair. All participants stated that SOAR was understandable and satisfactory with willingness to recommend it to other GBMSM. This adaptation approach was effective, and the resultant SOAR intervention has the potential to improve individual coping and HIV communication skills with partners to engage with biomedical prevention and in turn support GBMSM couples.

O artigo apresenta alguns resultados de uma pesquisa que avaliou o funcionamento e resultados do Programa Mais Educação. Trata-se de um survey que teve uma amostra probabilística (escolas de sorteio aleatório de cadastro do Ministério da Educação, contendo 45.492 escolas que estavam na lista de adesões, em 2013). O erro foi de 5%. Respeitando aspectos éticos de livre consentimento e anonimato, aplicamos questionários para professores, coordenadores do Programa e gestores de 1.637 escolas (distribuídas em 861 municípios, em todo o país). Os resultados apontam para novas atividades no currículo: Esportes (62,6%); Artes (49,1%); Iniciação Científica (16,4%). Os resultados também demonstram que a ampliação da jornada escolar no ensino fundamental se tornou desejada por 92,9% dos gestores escolares. Essa reflexão é importante, considerando que o Programa funcionou entre 2008 e 2016 (governos Lula e Dilma) e a proposta de ampliação da jornada escolar no ensino fundamental desapareceu da agenda política.

Edwardsiella tarda is a crucial pathogenic bacterium in tropical aquaculture. This bacterium was recently isolated from tambaqui (Colossoma macropomum), a commercially important fish species in Brazil. This study assessed the antimicrobial susceptibility, pathogenicity, and genetic diversity of the tambaqui-derived E. tarda isolates. Fourteen bacterial isolates isolated from tambaqui were identified as E. tarda by using matrix-assisted laser desorption/ionization–time-of-flight mass spectrometry and dnaJ gene sequencing. Antimicrobial susceptibility tests were conducted against seven drugs using the disc diffusion assay. The pathogenicity test conducted by intraperitoneal injection of 2.4 × 107 colony-forming units (CFU) fish−1 of E. tarda (ED38-17) into tambaqui juveniles eventually revealed that neither clinical signs nor death were present. However, splenomegaly and whitish areas in the spleen and kidneys were observed. The histological investigation also revealed granulomatous splenitis, nephritis, and hepatitis occurring internally. Repetitive extragenic palindromic-PCR fingerprinting separated the 14 isolates into three genetic groups. The antibiogram revealed that all E. tarda isolates were wild-type (WT) to florfenicol (FLO), norfloxacin (NOR), neomycin (NEO), erythromycin (ERY), and oxytetracycline (OXY); however, some were non-wild-type to sulfamethoxazole/trimethoprim (7.1%) and amoxicillin (21.4%). Therefore, through experimental infection, E. tarda ED38-17 could induce pathogenic effects in C. macropomum. Additionally, three distinct genetic types were found, and the E. tarda isolates were WT to FLO, NOR, NEO, ERY, and OXY. These findings raise awareness of a bacteria causing unseen lesions, a pathogen that will potentially impact tambaqui aquaculture in the future.

This paper examines the effect of having a third-party scientific expert present in stakeholder interviews. The study was conducted as part of a larger project on stakeholder engagement for natural resource management in the Verde Valley region of Arizona. We employed an experimental design, conducting stakeholder interviews both with and without an identified scientific expert present. Our sample consisted of 12 pairs of interviewees (24 total participants) who we matched based on their occupation, sex, and spatial proximity. For each pair, the scientific expert was present as a third party in one interview and absent in the other. We used a word-based coding strategy to code all interview responses for three known areas of sensitivity among the study population (risk, gatekeeping, and competence). We then performed both quantitative and qualitative analyses to compare responses across the two interview groups. We found that the presence of a scientific expert did not have a statistically significant effect on the mention of sensitive topics among stakeholders. However, our qualitative results show that the presence of a scientific expert had subtle influences on the ways that stakeholders discussed sensitive topics, particularly in placing emphasis on their own credibility and knowledge. Our findings indicate that researchers may be able to pursue collaborative, interdisciplinary research designs with multiple researchers present during interviews without concerns of strongly influencing data elicitation on sensitive topics. However, researchers should be cognizant of the subtle ways in which the presence of a third-party expert may influence the credibility claims and knowledge assertions made by respondents when a third-party expert is present during stakeholder interviews.

To diagnose ≥90% HIV-infected residents (diagnostic coverage), the Bukoba Combination Prevention Evaluation (BCPE) implemented provider-initiated (PITC), home- (HBHTC), and venue-based (VBHTC) HIV testing and counseling (HTC) intervention in Bukoba Municipal Council, a mixed urban and rural lake zone community of 150,000 residents in Tanzania. This paper describes the methods, outcomes, and incremental costs of these HTC interventions. PITC was implemented in outpatient department clinics in all eight public and three faith-based health facilities. In clinics, lay counselors routinely screened and referred eligible patients for HIV testing conducted by HTC-dedicated healthcare workers. In all 14 wards, community teams offered HTC to eligible persons encountered at 31,293 home visits and at 79 male- and youth-frequented venues. HTC was recommended for persons who were not in HIV care or had not tested in the prior 90 days. BCPE conducted 133,695 HIV tests during the 2.5 year intervention (PITC: 88,813, 66%; HBHTC: 27,407, 21%; VBHTC: 17,475, 13%). Compared with other strategies, PITC conducted proportionally more tests among females (65%), and VBHTC conducted proportionally more tests among males (69%) and young-adults aged 15-24 years (42%). Of 5,550 (4.2% of all tests) HIV-positive tests, 4,143 (75%) clients were newly HIV diagnosed, including 1,583 males and 881 young adults aged 15-24 years. Of HIV tests conducted 3.7%, 1.8%, and 2.1% of PITC, HBHTC, and VBHTC clients, respectively, were newly HIV diagnosed; PITC accounted for 79% of all new diagnoses. Cost per test (per new diagnosis) was $4.55 ($123.66), $6.45 ($354.44), and $7.98 ($372.67) for PITC, HBHTC, and VBHTC, respectively. In a task-shifting analysis in which lay counselors replaced healthcare workers, estimated costs per test (per new diagnosis) would have been $3.06 ($83.15), $ 4.81 ($264.04), and $5.45 ($254.52), for PITC, HBHTC, and VBHTC, respectively. BCPE models reached different target groups, including men and young adults, two groups with consistently low coverage. Implementation of multiple models is likely necessary to achieve ≥90% diagnostic coverage.

The paper explores some of the key themes and discussion points that were aired at the Association of Learning Technology conference in 2004. It discusses the findings of several of the keynote speakers and presenters within the context of the relationship between technology, practice and innovation. It references the papers presented in the technology infrastructure and new technology strands of the conference to examine whether educational technology currently has an appropriate balance between innovation and good practice. It then presents a case study of application in practice through some of the development activities that a national funding body, the JISC, has put into place. Finally, it draws conclusions about how well the learning technology community is achieving appropriate balance between innovation and technology.