A Qualitative Study Exploring the Experiences and Perceptions of Patients with Hemophilia Regarding Their Health-Related Well-Being, in Salamanca.

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.

Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.

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.

Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis.

This study explores the perception of social and educational quality of life in minors with rare diseases (RDs). Two meta-analyses were performed, applying the random effects model. Results: Regarding the social Quality of Life, the meta-sample consisted of k = 40 samples, with a total population of 1943 children (mean age = 9.42 years), of whom 687 (35.3%) were girls, 615 (31.4%) were boys and 641 (33%) did not report their sex. The effect size was large (mean size = 7.68; p < 0.000; 99% Confidence Interval; lower limit = 7.22; upper limit = 8.14). The results of the meta-regression and model analysis showed the importance of the measurement instrument (Paediatric Quality-of-Life Inventory and Prototypes of the Quality of life) and the dissimilarity of perception among caregivers. The nationality and the type of RD were not relevant. With respect to the educational Quality of Life, the meta-sample consisted of k = 19 samples, with 699 minors (mean age = 10.3 years), of whom 266 (38%) were girls, 242 (34.6%) were boys and 191 (27.4%) did not report their sex. The effect size was large (mean size = 7.15; p < 0.000; 99% CI; lower limit = 6.35; upper limit = 7.94). The meta-regression and comparison of models showed that the type of RD was essential. The measurement instrument was a moderating variable, especially the Parent version Paediatric Quality-of-Life Inventory. This study reveals the need for further research on RDs and their social−educational effects.

Socio-historical analysis of the social importance of pharmacovigilance.

Pharmacovigilance is a scientific discipline that has changed a lot in recent years and is of great social importance. The case of the so-called sulfonamide elixir showed society the importance of this discipline. Since then, pharmacovigilance has evolved into a scientific discipline with a strong social character. In this paper, a historical review is made of several paradigmatic examples of this discipline to reflect on what pharmacovigilance could be like finally. We conclude that this discipline could be more closely related to other areas of the social sciences, which would help to promote a more democratic social environment taking into account the needs of individuals and social groups.

Investigación cualitativa sobre el impacto del confinamiento estricto en las entidades del tercer sector españolas relacionadas con las enfermedades raras / Qualitative research about the impact of strict enclosure in entities of the Spanish third sector related to rare diseases

Resumen A raíz de la pandemia producida por el impacto del nuevo coronavirus, se adoptaron medidas de confinamiento estricto en España desde el 15 de marzo de 2020. Las medidas afectaron, entre otros sistemas, a la actividad y gestión de las entidades del tercer sector dedicadas a la atención a las personas con enfermedades raras. En este estudio se trató de conocer este impacto, mediante el uso de metodología cualitativa y el software MAXQDA a partir de una muestra de 81 entidades participantes en el estudio. Del análisis de la información obtenida se pudo extraer que el confinamiento no ha supuesto un impacto homogéneo en la gestión de las entidades. Destaca la reducción de sus actividades de visibilidad con el consiguiente impacto social y psicoafectivo. Ello pone de manifiesto una debilidad estructural previa que con esta situación se ha visto agravada. Este estudio también profundiza en los ajustes que estas entidades han realizado para poder seguir prestando sus servicios de apoyo, así como el impacto que ha tenido en sus escasas plantillas y equipos directivos.

Abstract As a result of the pandemic caused by the impact of the SAR-Cov-2 orthocoranavirus, strict containment measures were adopted in Spain from March 15, 2020. These measures affected, among other systems, the activity and management of third sector entities dedicated to the care of people with rare diseases. In this study we tried to know this impact, using qualitative methodology and MAXQDA software from a sample of 81 entities participating in the study. From the analysis of the information obtained, it was possible to draw the conclusion that confinement has not had a homogeneous impact on the management of the organizations. The reduction of their visibility activities stands out, with the consequent social and psycho-affective impact. This highlights a previous structural weakness that has been aggravated by this situation. The study also delves into the adjustments that these entities have made in order to be able to continue providing their support services, as well as the impact this has had on their scarce staff and management teams.

Impacto sociobiomédico de la sobreprotección: el Síndrome de Wolfram como ejemplo paradigmático / Impacto sociobiomédico da superproteção: a síndrome de Wolfram como um exemplo paradigmático / Sociobiomedical impact of overprotection: Wolfram syndrome as a paradigmatic example

The aim of this article is to analyze the possible existence of overprotection, its socialimpact, and its effects on the quality of life of people with Wolfram syndrome. The research261Cultura de los Cuidados. 1º Cuatrimestre 2022. Año XXVI. nº 62method is mix: quantitative and qualitative. The quantitative study is based on a correlationaldescriptive observational design. The sample consisted of 31 patients aged between 15 and 46years, diagnosed with Wolfram syndrome in Spain. The quality of life of the patients was analyzedthrough a questionnaire and the social behaviors of overprotection through a structured ad-hocinterview. On the other hand, a qualitative questionnaire on risk perception and social uncertaintywas made. The social uncertainty to which families are subjected leads them to sometimes takeoverprotective behaviors. However, our results show that this happens more in the group ofpatients without partners, as well as in the scale absence of overload and free time. The group ofpeople with a partner has greater social support, less overprotection, greaterphysical/psychological well-being, absence of work overload/leisure time and overall quality oflife.

El objetivo de este artículo es analizar la posible existencia de sobreprotección y analizarsu impacto social y sus efectos en la calidad de vida de personas con Síndrome de Wolfram. Lametodología de investigación es mixta: cuantitativa y cualitativa. El estudio cuantitativo se basaen un diseño observacional correlacional-descriptivo. En él, la muestra estuvo compuesta por 31pacientes españoles con Síndrome de Wolfram con edades comprendidas entre los 15 y 46 años.Se analizó la calidad de vida de los pacientes por medio de un cuestionario y las conductas socialesde sobreprotección por medio de una entrevista estructurada ad-hoc. Por otro lado, se realizó uncuestionario cualitativo sobre la percepción del riesgo y la incertidumbre social. La incertidumbresocial a la que se ven sometidas las familias les conduce a tomar, en ocasiones, comportamientosde sobreprotección. Nuestros resultados muestran que esto sucede más en el grupo de pacientessin pareja, asimismo en la escala de ausencia también se produce una sobrecarga y tiempo libre.El grupo de personas con pareja presentan un mayor apoyo social, menor sobreprotección, mayorbienestar físico/psíquico, ausencia de sobrecarga laboral/tiempo libre y calidad de vida global.

O objetivo deste artigo é analisar a possível existência de superproteção e analisar seuimpacto social e seus efeitos na qualidade de vida de pessoas com Síndrome de Wolfram. Ométodo de pesquisa é quantitativo e qualitativo. O estudo quantitativo é baseado em um desenhoobservacional descritivo-correlacional. A amostra foi composta por 31 pacientes espanhóis comSíndrome de Wolfram com idades entre 15 e 46 anos. A qualidade de vida dos pacientes foianalisada por meio de questionário e os comportamentos sociais superprotetores por meio deentrevista estruturada ad hoc. Por outro lado, foi realizado um questionário qualitativo sobre apercepção de risco e incerteza social. A incerteza social a que estão submetidas as famílias levaas a assumir, por vezes, comportamentos superprotetores. Nossos resultados mostram que issoacontece mais no grupo de pacientes sem companheiro, da mesma forma que na escala deausência também ocorre sobrecarga e tempo livre. O grupo de pessoas com companheiro262Cultura de los Cuidados. 1º Cuatrimestre 2022. Año XXVI. nº 62apresenta maior suporte social, menor superproteção, maior bem-estar físico / mental, ausênciade sobrecarga de trabalho / tempo livre e qualidade de vida geral.

Biosemiotics comprehension of PrP code and prion disease.

Prions or PrPSc (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 PrPC (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 PrPC 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.

Biosociological ethodiversity in the social system.

A comprehensive understanding of human sociality needs to embrace the coevolution of genes and culture. Recent advances in biological research about niche construction by organisms, and the development of the concepts of social niche and ethodiversity, can be integrated into a common approach to understand this coevolution, which implies the interaction between sociology and ecology in an integrative framework of knowledge. In this paper the authors propose such inclusive biosociological and heuristic framework to improve the understanding of the evolution of social niche construction. In addition, it allows a better understanding of the concept of sociotype in non-human organisms and explains some aspects of the social or presocial behavior through the concept of ethodiversity.

Análisis cualitativo del impacto social y familiar de las encefalopatías espongiformes transmisibles humanas / Qualitative analysis of the social and family impact of human transmissible spongiform encephalopathies

Introducción. Las encefalopatías espongiformes transmisibles humanas son patologías relacionadas con el plegamiento incorrecto de la proteína priónica celular. Cuando éstas se manifiestan, la neurodegeneración producida es rápida y siempre letal. Objetivo. Describir y comprender la realidad social, personal y familiar de las personas afectadas. Pacientes y métodos. Se realizaron entrevistas cualitativas en línea a través de cuestionarios semiestructurados abiertos a portadores y a las familias de afectados. La información fue anónima y se solicitó que las respuestas fuesen amplias. Resultados. La muestra fue de 47 entrevistados, siete portadores confirmados y 40 familiares que podrían ser portadores o no. La mayoría de los informantes eran mujeres, con una edad comprendida, sobre todo, entre 30 y 50 años. El análisis del discurso, centrado en la percepción de la propia enfermedad, el tiempo transcurrido hasta el diagnóstico, y las incertidumbres y necesidades, ha permitido establecer cuatro campos semánticos: sufrimiento/pérdida, temporalidad, médico/clínica y cotidianidad. No obstante, también se han encontrado otros elementos importantes. Sólo ocho familiares consideran necesario incrementar la investigación. Las familias presentan una alta tasa de incertidumbre; en cambio, los portadores no muestran tal incertidumbre ante su futuro. Conclusiones. Los estudios sociobiomédicos sobre patologías priónicas son poco habituales. En el trabajo se amplía el conocimiento sobre la realidad social de las personas y de las familias afectadas. Estas patologías ubican a los afectados en situaciones sociales muy complicadas y de difícil gestión psicosocial

Introduction. Human transmissible spongiform encephalopathies are pathologies related to the misfolding of the cellular prion protein. When these diseases manifest, they are characterized by a rapid and invariably fatal neurodegeneration. Aim. To gain insight on the social, personal and family reality of the people in close contact with these disorders. Patients and methods. Qualitative interviews were conducted online through semi-structured questionnaires open to carriers and first-degree relatives of those affected. The information was anonymous and the responses were requested to be broad. Results. The sample consisted on 47 interviewees, seven confirmed carriers and 40 relatives that might be carriers or not. The majority of the informants were women aged between 30 and 50. The discourse analysis focused on their perception of the disease, time to diagnosis, and their uncertainties/needs allowed establishing four semantic fields: suffering/loss, temporality, medical/clinical and daily life. However, other important elements were also found. Only eight relatives considered necessary to increase research efforts. Relatives also presented a higher rate of uncertainty, while confirmed carriers did not show such uncertainty about their future. Conclusions. Socio-biomedical studies related to prion pathologies are rare. In this work, our knowledge on the social reality of the affected people and their close relatives is extended. These pathologies lead those in close contact with them to extremely complicated social situations with utmost psychosocial management difficulties

Propuesta de sistematización de la Hermenéutica analógica en Enfermería / Systematization proposal of analogical hermeneutic in nursing

El objetivo de este trabajo es proponer una sistematización de la hermenéutica en Enfermería. Los autores parten de la premisa que la hermenéutica en Enfermería está limitada al estudio de conversaciones. Por esta razón se expone un esbozo de una futura propuesta. En ella se busca que la Hermenéutica no se circunscriba, únicamente, al estudio de los textos hablados o escritos. Si no que pueda ser empleada habitualmente por los profesionales de la Enfermería

The aim of this paper is to propose a systematization of hermeneutics in nursing. The authors start from the premise that hermeneutics nursing is limited to the study of talks. For this reason an outline of a future proposal it is exposed. It is intended that hermeneutics is not restricted solely to the study of texts spoken or written. Otherwise it can be commonly used by nurses