Hemophilia is a chronic, congenital/hereditary and X-linked disease, characterized by an insufficiency of factors VIII or IX, which are necessary for blood clotting. Those affected by hemophilia often suffer from particular psychosocial problems, both in the acceptance, coping, treatment and self-management of their disease and in their family and social relationships, which are often mediated by these circumstances. The aim of this study was to explore the experiences of people with hemophilia or their family members, of in a specific region of Spain, regarding the impact of having hemophilia. Structured interviews were conducted and developed, using the studies of the World Federation of Hemophilia and Osorio-Guzmán et al. as a guide, as well as a literature review of qualitative work on hemophilia. Data were analyzed using a six-step thematic analysis. A total of 34 interviews were thematically analyzed. The results showed that three key themes emerged from the data: (1) the daily impact of having hemophilia, (2) uncertainty about the disease, (3) the role of associations and (4) support from institutions. The results make it clear that the disease has a major impact on their lives (work, family, leisure and personal environment). The main conclusion is that hemophilia has a negative impact on the daily lives of patients, families and caregivers.

Prions or PrP^Sc (prion protein, Scrapie isoform) are proteins with an aberrant three-dimensional conformation that present the ability to alter the three-dimensional structure of natively folded PrP^C (prion protein, cellular isoform) inducing its abnormal folding, giving raise to neurological diseases known as Transmissible spongiforms encephalopathies (TSEs) or prion diseases. In this work, through a biosemiotic study, we will analyze the molecular code of meanings that are known in the molecular pathway of PrP^C and how it is altered in prion diseases. This biosemiotic code presents a socio-semiotic correlate in organisms that could be unraveled with the ultimate goal of understanding the code of signs that mediates the process. Finally, we will study recent works that indicate possible relationships in the code between prion proteins and other proteins such as the tau protein and alpha-synuclein to evaluate if it is possible that there is a semiotic expansion of the PrP code and prion diseases in the meaning recently expounded by Prusiner, winner of the Nobel Prize for describing these unusual pathological processes.

We propose a semiotic framework to underpin a posthumanist philosophy of education, as contrasted to technological determinism. A recent approach to educational processes as semiotic phenomena lends itself as a philosophy to understand the current interplay between education and technology. This view is aligned with the transhumanist movement to defend techno-scientific progress as fundamental to human development. Particularly, we adopt a semiotic approach to education to tackle certain tensions in current debates on the human. Transhumanism scholars share the optimistic belief that there is no limit to how the ethical use of technology can help alleviate suffering and increase our health and wisdom. From this perspective, it appears possible to acquire capacities that require rethinking the notion of human altogether. For others, this undermining of essentialist concepts of humanity entails serious risks, especially related to ethical egalitarianism. We adopte the perspective of edusemiotics, a framework that brings together semiotics, educational theory and philosophy of education. As a theoretical-practical framework, edusemiotics affords a hermeneutic and semiotic method for our approach. Peirce’s logic of signs is used to analyze socio- educational interactions as environmental. We observe two lines of thought. On the one hand, technological transhumanism enhances Cartesian mind–body dualism. On the other hand, philosophical posthumanism seeks to overcome this dichotomy. The former proposal construes human transformation as an artifactualization derived from techno-scientific enhancements. The latter position proposes an integrative posthumanism, capable not only to include edusemiotic theory but also to rethink the concept of learning as mutual to that of human.

Wolfram syndrome (WS) is a rare neurodegenerative disease usually of autosomal recessive origin. There is limited research about sensorineural hearing loss, despite it being a fundamental entity. It is important to broaden the study of this disease and specify a set of tests required for an adequate assessment of patients for efficient monitoring and control. The fundamental objective of this research is to understand WS from a biomedical perspective in order to help in its diagnosis, follow-up, and control. Pure tones audiometry, tympanometry, speech perception, the speech intelligibility index without aid, and testing at high frequencies were among the audiological measurements utilised since they were deemed suitable for standardised follow-up. Mixed linear models were used to examine the effects of age, time, or mean interaction in pure-tone (IPT), the average of high frequencies (HFA), auditory brainstem response (ABR), and brainstem auditory evoked potentials (BAEP). The genetic analysis allowed mutations to be classified into three phenotype-genotype groups, where the phenotype indicated the severity of the hearing loss. Patients with homozygous gene changes had a more severe neurosensory phenotype. The early discovery of sensorineural hearing loss and WS is crucial since it allows intensive follow-up and treatment of the person affected from the start.

EL DESENCUENTRO ENTRE CIENCIA Y EDUCACIÓN; un problema científico-social

This paper offers a systematic review of the papers in the present century that have addressed the intersection between urbanism, universal accessibility, and the socio-educational sphere. The paper explores, describes, and interprets the published literature found in academic sources included in Scopus and Web of Science (WOS) from the year 2000 to the present about the intersection of these three topics. We start from the dialogue between the social and the educational spheres as a basic premise. Thus, the main objectives of this review are (1) to identify how many articles explicitly address the social dimension in relation to education and universal accessibility; (2) to determine if there is an upward or downward trend in socio-educational perspectives, inclusion, and new urbanism; and (3) to find out if the research provides frameworks for universal accessibility, urban planning, and socio-educational inclusion from this holistic perspective. After removing all exclusion criteria, the study was restricted to 29 papers. The small number of research found is noteworthy. We understand that this shortage is due to the inclusion of the social dimension as a required area. Although there seems to have been a slight increase in recent years, the sample found does not allow us to determine whether or not there is a greater interest in studying the social sphere in relation to inclusive education. We do conclude, however, that this gap highlights the need to make the socio-educational dimension more present.