RESUMO
BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian families in order to analyze the clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis. METHODS: Clinical data were collected retrospectively. Molecular analysis of the CTNS gene was performed by Sanger sequencing. RESULTS: We describe a new splicing mutation c.971-1G > C in the homozygous state in 6/12 patients which seems to be a founder mutation. The reported deletion of 23nt c.771_793 Del (p.Gly258Serfs*30) was detected in a homozygous state in one patient and in a heterozygous compound state with the c.971-1G > C mutation in 3/12 patients. Two of 12 patients have a deletion of exons 4 and 5 of the CTNS gene. None of our patients had the most common 57-kb deletion. CONCLUSIONS: The mutational spectrum in the Tunisian population is different from previously described populations. Thus, a molecular diagnostic strategy must be implemented in Tunisia, by targeting as a priority the common mutations described in this country. Such a strategy will allow a cost-effective diagnosis confirmation as well as early administration of treatment with oral cysteamine. A higher resolution version of the Graphical abstract is available as Supplementary information.
Assuntos
Sistemas de Transporte de Aminoácidos Neutros , Cistinose , Criança , Humanos , Sistemas de Transporte de Aminoácidos Neutros/genética , Cistinose/tratamento farmacológico , Cistinose/etnologia , Cistinose/genética , Éxons/genética , Síndrome de Fanconi/genética , Estudos RetrospectivosRESUMO
The growing field of neurotechnology (NT) is becoming more and more accessible in terms of reduced costs, increasing availability and reliability of materials, and ways to implant devices. As in other engineering fields such as bio-or information technology, there is a growing community of pioneering hackers who (self-)experiment with NT and develop novel applications. While most debates about NT, its goals and ethical ramifications are usually conducted by professionals in the field (neuroscientists, -engineers, -ethicists), little is known within these institutional frameworks about the motivations, goals and visions of neurohackers and how they view ethical ramifications of NT therapeutics vs. human enhancement. In this study we draw on qualitative interviews with 13 of these neurohacking pioneers, who are interacting with NT from a grassroots perspective (i.e., a bottom-up and community/subculture-oriented approach), and shed light on: how they understand themselves in the context of human enhancement; what the role of invasive NTs is when it comes to identifying as a cyborg; if their practices show a clear distinction between therapy and enhancement; whether human enhancement is always about performance, optimization and functionality; and to which extent neurohackers contribute to "mainstreaming" NT.
RESUMO
Antimicrobial stewardship programs (ASPs) are effective means to optimize prescribing practices. They are under-utilized in the Middle East where many challenges exist for ASP implementation. We assessed the effectiveness of infectious disease physician-driven post-prescription review and feedback as an ASP in Lebanon. This prospective cohort study was conducted over an 18-month period in the medical, surgical, and intensive care units of a tertiary care hospital. It consisted of three phases: the baseline, intervention, and follow-up. There was a washout period of two months between each phase. Patients aged ≥16 years receiving 48 h of antibiotics were included. During the intervention phase, the AMS team reviewed antimicrobial use within 72 h post-prescription and gave alternate recommendations based on the guidelines for use. The acceptance of the recommendations was measured at 72 h. The primary outcome of the study was days of therapy per 1000 study patient days. A total of 328 patients were recruited in the baseline phase (August−October 2020), 467 patients in the intervention phase (January−June 2021), and 301 patients in the post-intervention phase (September−December 2021). The total days of therapy decreased from 11.46 during the baseline phase to 8.64 during the intervention phase (p < 0.001). Intervention acceptance occurred 88.5% of the time. The infectious disease physician-driven implementation of an ASP was successful in reducing antibiotic utilization in an acute care setting in Lebanon.
RESUMO
Human enhancement deals with improving on and overcoming limitations of the human body and mind. Pharmaceutical compounds that alter consciousness and cognitive performance have been used and discussed for a long time. The prospect of neurotechnological applications such as brain-steered devices or using invasive and noninvasive electromagnetic stimulations of the human brain, however, has received less attention-especially outside of therapeutic practices-and remains relatively unexplored. Reflection and debates about neurotechnology for human enhancement are limited and remain predominantly with neurotech engineers, science-fiction enthusiasts and a small circle of academics in the field of neuroethics. It is well known, and described as the Collingridge dilemma, that at an early stage of development, changes can easily be enacted, but the need for changes can hardly be foreseen. Once the technology is entrenched, opportunities and risks start to materialize, and the need to adapt and change is clearly visible. However, carrying out these changes at such a late stage, in turn, becomes very difficult, tremendously expensive, and sometimes practically impossible. In this manuscript, we compile and categorize an overview of existing experimental and speculative applications of neurotechnologies, with the aim to find out, if these real or diegetic prototypes could be used to better understand the paths these applications are forging. In particular, we will investigate what kind of tools, motivations, and normative goals underpin experimental implementations by neurohackers, speculative designers and artists.