Thesis (M.A. (Clinical Psychology)) -- University of Limpopo, 2007 / This study explored the self-esteem of teenagers with oculocutaneous albinism and how they perceive societal attitudes towards them. A total of 40 teenage learners with oculocutaneous albinism from a special school and 60 teenage learners without the condition from the regular school in the Polokwane Municipality (Limpopo Province-South Africa) participated in the study. Qualitative and quantitative methods were triangulated in the study. Data were collected using the questionnaires and focus group discussions. The results revealed that teenagers with oculocutaneous albinism (experimental group) scored higher (Mean=36.08) than the control group (Mean=33.57) on the Rosenberg self-esteem scale. The study furthermore revealed that community members and teachers are perceived as having mixed (positive and negative) attitudes whereas family members and peers hold positive attitudes towards teenagers with oculocutaneous albinism. Although the teenagers with oculocutaneous albinism were found to have positive self-esteem, there is still a need for more organized community education programmes to educate the Black African communities about albinism.

Bakgrund: Oculocutaneous albinism (OCA) är en ärftlig sjukdom som fysiskt, psykiskt och socialt påverkar de drabbade individerna. Okunskap, fördomar och myter om albinism utgör de största orsakerna till den diskriminering som personer med albinism utsatts för särskilt i vissa länder i Afrika söder om Sahara. Syfte: Syftet är att beskriva hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd. Metod: En kvalitativ metod med induktiv ansats ligger till grund för denna undersökning. 14 semistrukturerade intervjuer genomfördes i Rwanda för insamlingen av data och en intervjuguide utformades för att underlätta intervjuprocessen. Intervjuerna spelades in och därefter transkriberades för att sedan analyseras med hjälp av en manifest innehållsanalys där datamaterialet framställdes i fyra kategorier. Resultat: Personer med albinism upplever diskriminering och deras hälsa påverkas därmed negativt. De använder sig utav olika coping-strategier för att hantera denna diskriminering. Förväntningarna är att med ökad kunskap om albinism och ökade stödinsatser bör kunna minska diskrimineringen i samhället. Slutsats: Albinism är ett folkhälsoproblem som förtjänar ytterligare forskning och utökade åtgärder för att öka medvetenheten om sjukdomen och för att stödja personerna som lever med albinism. / Background: Oculocutaneous albinism (OCA) is a hereditary disease that directly impacts the physical, mental and social health of affected individuals, particularly in some countries in sub-Saharan Africa. Ignorance, prejudices and myths about albinism are the biggest cause of the discrimination of people living with albinism in particular countries within this region. Aim: The aim is to describe the health of people with albinism in Rwanda, based on the concepts of discrimination, coping and social support. Method: A qualitative method with an inductive approach serves as the basis for this study. 14 semi-structured interviews were conducted in Rwanda for the collection of data and an interview guide was designed to facilitate the interview process. The interviews were recorded, transcribed and analyzed using a manifest content-analysis model that revealed four different categories of results. Result: People with albinism are experiencing discrimination and this adversely affects their health. Different coping strategies are used by people with albinism for dealing with their differing experiences of this discrimination. The expectations of these people are that increased knowledge about albinism and increased support measures ought to reduce the discrimination within their society. Conclusion: Albinism is a public health problem that deserves further research and increased measures towards increasing the awareness surrounding albinism and supporting the daily lives of the people living with albinism.

Despite the adoption of Sustainable Development Goals (SDGs) and their targets, people with disabilities continue to experience marginalisation, and they have limited opportunities in society. In Tanzania, Children With Albinism (CWA) do not enjoy full citizenship rights because they are constantly subjected to stigmatisation, discrimination and persecution within their communities. This has forced the government of Tanzania to establish temporary holding shelters to protect these children. While the government appears sensitive to the challenges children with albinism face, the idea of temporary holding shelters blurs the lines of what it means to cultivate social inclusion.  A rights-based conceptual framework for the social inclusion of children helped to identify challenges faced by children with albinism in Tanzania, as well as to advance a new understanding of the voices and knowledge emerging from the Global South. An exploratory research design together with qualitative and abductive approaches were employed, and qualitative content analysis was used in analysing the empirical findings before coding the textual material. Thereafter, an expanded rights based conceptual framework for the social inclusion of children was developed. In the expanded framework, child specific factors namely family, community, social acceptance and social protection were added.

The thesis is about a small NGO that is working with the rights of persons with albinism in Tanzania. It deals with the NGOs advocacy work on a local and national level, and addresses the challenges that come with their work.  I have concluded that advocacy is a powerful tool for NGOs to use as a part of their strategic communication. NGOs in the Global South and especially Africa are given less attention, thus having less opportunities of reaching out with their message. I have also concluded that for an NGO to succeed in its advocacy work it needs to carefully identify its target audiences and adapt the messages thereafter. To build a relationship with the audiences is also an important part of the process, as a strong relationship increases the chances of involvement in the organization. ICTs can be very useful for NGOs that strive to reach out to the global community.

Adaptation to any environment through the course of its evolution involves the alteration of multiple traits to ensure survival, Astyanax mexicanus is a notable example of this. Some of the most notable differences between the surface and cave populations are loss of pigmentation, decreased sleep, and reduced eyes. 208 surface – cave F2 hybrids were assessed for several morphological and behavioral phenotypes. There were significant differences found between pigmented and albino individuals, raising the question of a shared genetic basis for these traits. Oculocutaneous albinism 2 (oca2) is a notable contributor to albinism in many species, including A. mexicanus. Surface fish with CRISPR mutations at oca2 confirmed a contribution of oca2 in sleep loss within albino cavefish. Further, it was determined that oca2 is under selection and possibly has a pleiotropic function, which underlies the adaptive evolution of sleep loss and albinism. / Includes bibliography. / Thesis (M.S.)--Florida Atlantic University, 2020. / FAU Electronic Theses and Dissertations Collection

Heřmanský–Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6) is an uncommon subtype generally associated with mild disease. A Caucasian adult female presented with a history of severe bleeding; ophthalmologic examination indicated occult oculocutaneous albinism. The patient was diagnosed with a platelet storage pool disorder, and platelet whole mount electron microscopy demonstrated absent delta granules. Genome-wide SNP analysis showed regions of homozygosity that included the HPS1 and HPS6 genes. Full length HPS1 transcript was amplified by PCR of genomic DNA. Targeted next-generation sequencing identified a novel homozygous missense variant in HPS6 (c.383 T > C; p.V128A); this was associated with significantly reduced HPS6 mRNA and protein expression in the patient's fibroblasts compared to control cells. These findings highlight the variable severity of disease manifestations in patients with HPS, and illustrate that HPS can be diagnosed in patients with excessive bleeding and occult oculocutaneous albinism. Genetic analysis and platelet electron microscopy are useful diagnostic tests in evaluating patients with suspected HPS. Clinical Trial registration:. Registrar: ClinicalTrials.gov. Website: www.clinicaltrials.gov. Registration Numbers: NCT00001456 and NCT00084305.

Während bei Prokaryonten, Pflanzen und Pilzen der Transport von Zuckern über Membranen mit Hilfe von Disaccharid-Transportern erfolgt, ist bei Tieren, vor allem Säugern, nach der allgemein anerkannten Vorstellung nur der Transport von Monosacchariden bekannt. Die vorliegende Dissertation, in der ScrT, ein bislang unerforschtes Protein aus der Fruchtfliege Drosophila melanogaster untersucht und charakterisiert wurde, beinhaltet Daten, die diese Vorstellung in Frage stellen.Die Expression von ScrT in Hefestämmen ermöglichte das Wachstum auf einem Minimalmedium, das als einzige C-Quelle Saccharose enthält, und Tests mit radioaktiv (14C) markierter Saccharose belegten, dass Hefestämme, die das untersuchte Protein heterolog exprimieren, Transportaktivität für dieses Disaccharid aufweisen.Die mittels Immunhistochemie ermittelte in vivo-Lokalisation von ScrT führte zu unterschiedlichen Resultaten. Zum einen waren in den adulten Fruchtfliegen deutliche Signale im Mitteldarm zu erkennen. Zum anderen wurden vesikuläre Strukturen in Follikelzellen der Ovarien gefärbt. Diese offenbar Melanin enthaltenden Strukturen fanden sich auch im Chorion der abgelegten Embryonen. Somit scheint es sich bei diesen Vesikeln um Melanosomen oder funktionell analoge Organellen zu handeln, in deren Membran das untersuchte Protein lokalisiert ist und die sekretorisch bei der Bildung des Chorions an dieses abgegeben werden. Die Lokalisierung von ScrT in den Follikelzellen wurde mittels in situ-Hybridisierung bestätigt.Den vorliegenden Daten zufolge dürfte ScrT unter anderem den Eintritt von Saccharose in Melanosomen regulieren, wo das chemisch relativ inerte Disaccharid als kompatibler Osmolyt fungieren und das osmotische Gleichgewicht während der Polymerisation von Melanin ausbalancieren könnte. Im Einklang mit dieser Hypothese steht auch, dass Mutationen in MATP, dem menschlichen Ortholog von ScrT, zu einer bislang wenig erforschten Form des Albinismus (OCA4) führen.

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The purpose of this study was to develop and describe a model for the enhancement of self-concept of people with oculocutaneous albinism based on the experience of the participants. The need to conduct the study was triggered by the researcher’s long-term interaction with people with oculocutaneous albinism, and observation that they are still stigmatised and marginalised by the community. A purposive sample of fifteen participants, consisting of twelve females and three males with oculocutaneous albinism, aged between 18 and 48, participated in the study. The study was conducted in urban and semi-urban areas around the Gauteng Province in South Africa. The study had two theory generative objectives, namely to identify the main concepts of the model from the findings, and to describe the model structure and process. A theory generative, qualitative, explorative, descriptive and contextual research design was used to achieve these objectives. Chinn and Kramer’s (1995:92) four steps of theory-generation were used, namely concept analysis, construction of theoretical relationships, description of the model, and development of guidelines to operationalise the model.Concept analysis involved identification, definition and classification of the concepts to develop the model. In-depth, phenomenological interviews were conducted to explore the participants’ experience. Data analysis and interpretation revealed three main themes from the findings: the participants’ perception of the self; experience with the external environment, and expression of need for development and growth. The main concepts deducted from the findings were “self-concept” and “enhancement” hence “A model for enhancement of self-concept of people with albinism”. Construction of theoretical relationships entailed using deductive reasoning to describe the interaction between the concepts of the model. Description of the model entailed visually portraying and describing the structure and process of the model, as well as evaluating it. Developing guidelines to operationalise the model entailed describing practical strategies to assist health professionals to enhance the self-concept of people with oculocutaneous albinism. / Health Studies / D. Litt. et Phil. (Health Studies)

The purpose of this study was to develop and describe a model for the enhancement of self-concept of people with oculocutaneous albinism based on the experience of the participants. The need to conduct the study was triggered by the researcher’s long-term interaction with people with oculocutaneous albinism, and observation that they are still stigmatised and marginalised by the community. A purposive sample of fifteen participants, consisting of twelve females and three males with oculocutaneous albinism, aged between 18 and 48, participated in the study. The study was conducted in urban and semi-urban areas around the Gauteng Province in South Africa. The study had two theory generative objectives, namely to identify the main concepts of the model from the findings, and to describe the model structure and process. A theory generative, qualitative, explorative, descriptive and contextual research design was used to achieve these objectives. Chinn and Kramer’s (1995:92) four steps of theory-generation were used, namely concept analysis, construction of theoretical relationships, description of the model, and development of guidelines to operationalise the model.Concept analysis involved identification, definition and classification of the concepts to develop the model. In-depth, phenomenological interviews were conducted to explore the participants’ experience. Data analysis and interpretation revealed three main themes from the findings: the participants’ perception of the self; experience with the external environment, and expression of need for development and growth. The main concepts deducted from the findings were “self-concept” and “enhancement” hence “A model for enhancement of self-concept of people with albinism”. Construction of theoretical relationships entailed using deductive reasoning to describe the interaction between the concepts of the model. Description of the model entailed visually portraying and describing the structure and process of the model, as well as evaluating it. Developing guidelines to operationalise the model entailed describing practical strategies to assist health professionals to enhance the self-concept of people with oculocutaneous albinism. / Health Studies / D. Litt. et Phil. (Health Studies)