J Clin Med
August 2023
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.
View Article and Find Full Text PDFWolfram 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.
View Article and Find Full Text PDFThis 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.
View Article and Find Full Text PDFPharmacovigilance 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.
View Article and Find Full Text PDFBackground: The coronavirus pandemic has generated social measures in order to contend virus expansion, and deaths. One of the most important political norms in the first wave was the domestic enclosure. This measure generates social, psychological and personal problems.
View Article and Find Full Text PDFPrions or PrP (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 (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 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.
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