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EN
The article presents the outcomes of legal research combined with quantitative and qualitative re­search review concerning access to health care for people with hearing loss in selected European countries: United Kingdom, Federal Republic of Germany and Republic of Poland. The main ob­jective was to verify if and how this issue, especially communication and access to information, is solved in different legal systems. Secondly, by comparing the established legal framework in each country with available data on actual quality of healthcare provision, it was assessed whether any regularities between the chosen models of regulating rights of people with hearing loss and real-life adjustments for those patients can be detected. The objective scope of the research includes any type of hearing loss which affects spoken language communication, that is not only d/Deaf but also deafblind and hard of hearing persons, if only their primary and/or preferred way of communication is the not-spoken one. The main findings of the performed analysis are that key sources of barriers in access to healthcare are the lack of awareness on the side of both patients (regarding their rights) and healthcare providers (specificity of hearing impairments) and the fact that enhancements in the professional status of sign language interpreters and other communication assistants are needed.
PL
Stożek rogówki (Keratoconus, KC) – obustronna niezapalna choroba oczu charakteryzująca się ścieńczeniem, zniekształceniem i uwypukleniem przedniej części rogówki, co prowadzi do pogorszenia ostrości widzenia, astygmatyzmu, w najcięższych przypadkach – do utraty wzroku. KC to choroba o złożonej etiologii, z silnym udziałem czynników genetycznych. Badania mające na celu scharakteryzowanie podłoża genetycznego stożka rogówki trwają już ponad 100 lat. Jak do tej pory naukowcom nie udało się zidentyfikować markerów genetycznych choroby – przydatnych we wczesnej diagnostyce i leczeniu. Niniejsza praca ukazuje historyczny aspekt badań genetycznych nad stożkiem rogówki.
EN
Keratoconus (KC) is a bilateral non-inflammatory eye disease characterized by thinning, distortion and protrusion of anterior cornea that leads to deterioration of visual acuity, astigmatism, and in the most extreme cases – loss of vision. KC is a complex condition with strong evidence of genetic factors associated with the disease. Genetic aetiology of keratoconus has been investigated for more than 100 years. So far, scientists have failed to identify genetic markers of keratoconus – useful in the early diagnosis and treatment. This article focuses on the history of genetic research on keratoconus.
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