[A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease]. / Plaidoyer pour une intégration de l'albinisme oculocutané au sein des Maladies tropicales négligées dermatologiques.

Oculocutaneous albinism (OCA) is genetically transmitted. In this paper we advocate for this disease to be included in the NTD list of the WHO. OCA type 2 is the most common form of albinism in sub-Saharan Africa, with a prevalence of 1 in 7900 among the Bamileke of Cameroon, 1 in 3900 in South Africa and 1 in 1100 among the Ibos of Nigeria, as compared to a prevalence of 1 in 10,000 among African Americans and 1 in 36,000 among White Americans and Europeans. The medical problems related to ophthalmological aspects (poor visual acuity, ametropia, nystagmus, photophobia) and dermatological aspects of albinism (sensitivity to UV rays from the sun and development of skin cancers) are well known. However, their management is often challenging for persons with albinism in sub-Saharan Africa because of their financial burden and the difficulty of accessing medical specialists. In many African countries, persons with albinism are also very often the subject of social, cultural, medical, moral and economic discrimination, which can limit their access to education, employment and community life. They are considered 'white Africans', intermediary and incomplete, with innate powers for good and evil. This particularity has made persons with albinism the targets of mutilations and/or ritual attacks for the purposes of using their body parts in the preparation of charms to bring good luck, health or prosperity. On 13 June 2013, as a result of lobbying by the Canadian NGO Under the Same Sun and African albinism associations, United Nations bodies including UNESCO and the WHO (World Health Organization) responded and a Resolution addressing the discrimination and attacks was voted in. The date has since become International Albinism Awareness Day and is celebrated on a different theme each year with great energy and impact, especially by French, English and Portuguese speaking albinism associations across sub-Saharan Africa. In 2015 the Human Rights Council created the position of Independent Expert on Albinism to better collect and analyse data on the rights of persons with albinism around the world, and especially in countries where ritual attacks occur. The data collected by albinism associations and the authorities thus go directly to the UN Human Rights Directorate. Despite this international attention to the attacks on persons with albinism, one of the biggest threats is skin cancer, which very often leads to early death. In 2022, the WHO launched a strategic framework for the control and management of neglected skin-related neglected tropical diseases - an additional reason to include oculocutaneous albinism as an NTD. Although the focus is currently limited to dermatoses of an infectious nature, we argue here for the integration of oculocutaneous albinism among NTDs because the deadliness of these carcinomas in sub-Saharan Africa is well-known and has been examined in a number of medical publications. Here, we propose that oculocutaneous albinism in sub-Saharan Africa be classified as an NTD to help people with albinism have access to health, economic, social and cultural rights.

Reactions to and explanations for the birth of a baby with albinism: a qualitative study in Busoga, Uganda.

OBJECTIVES: Babies born with the genetic condition albinism lack pigment in their hair, skin and eyes due to compromised melanin production. This leads to poor vision and the risk of early death due to skin cancer. In Uganda, one of the least developed countries in the world, their lack of pigmentation makes them very different in appearance within their communities. Local explanations of albinism include links to witchcraft and the supernatural. We aimed to explore reactions to the birth of a baby with albinism in Uganda. DESIGN: Secondary analysis of birth stories derived from qualitative interviews and focus group discussions in sharing circles. SETTING: Interviews took place in the Busoga subregion (kingdom) in the eastern part of Uganda. PARTICIPANTS: Seventy-three (73) participants took part in eight sharing circles (n=56) and 17 individual interviews. Participants included people with albinism, parents of people with albinism and a range of other interested parties, including local leaders and teachers. RESULTS: Reactions were generally those of shock and rejection, although cases of acceptance were also recorded. The varied explanations given to account for this unexpected event included accounts involving witchcraft, ghosts, animal familiars and religion, as well as genetics. In a framework surmising that someone must possess a dark skin to be intrinsically valued in African societies a baby with albinism does not fulfil this requirement of 'personhood'. The mother was often blamed for having produced some 'thing' that is not a proper person. CONCLUSIONS: We argue that a biomedical explanation, although unlikely to displace other understandings, helps to establish a baby with albinism as a real person with a genetic difference, and hence fosters greater acceptance.

Beliefs about people with albinism in Uganda: A qualitative study using the Common-Sense Model.

Albinism includes a group of inherited conditions that result in reduced melanin production. It has been documented across the world, with a high frequency in sub-Saharan Africa. There is very little published research about the lives of people with albinism, but available evidence shows that myths abound regarding their condition. They are feared, viewed with suspicion and believed to have supernatural powers. In this study we explored the links between beliefs, myths, traditions and positive/negative attitudes that surround people with albinism in Uganda. The study was located philosophically within Ubuntu-an Afrocentric worldview-and theoretically within the Common-Sense Model of self-regulation of health and illness that originates from the work of Leventhal in 2003. This qualitative study took place in eight districts of Busoga sub-region, Uganda between 2015 and 2017. Data collection comprised eight group discussions and 17 individual interviews with a range of informants, capturing the viewpoints of 73 participants. Findings lend support to previous research, highlighting the life-time discrimination and disadvantage experienced by many people with albinism. It shows that there is still much to be done to address the pervasive and potentially harmful beliefs and misconceptions about people with albinism.

Children with albinism in African regions: their rights to 'being' and 'doing'.

BACKGROUND: Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. The impacts of albinism are particularly serious in areas that associate albinism with legend and folklore, leading to stigmatisation and discrimination. In regions of Africa those with albinism may be assaulted and sometimes killed for their body parts for use in witchcraft-related rites or to make 'lucky' charms. There is a dearth of research on the psychosocial aspects of albinism and particularly on how albinism impacts on the everyday lives of people with albinism. DISCUSSION: There is a growing recognition and acceptance in Africa that people with albinism should be considered disabled. Thomas's social-relational model of disability proposes it is essential to understand both the socio-structural barriers and restrictions that exclude disabled people (barriers to doing); and the social processes and practices which can negatively affect their psycho-emotional wellbeing (barriers to being). In this article, we combine a social model of disability with discussion on human rights to address the lacuna surrounding the psychosocial and daily experiences of people with albinism. CONCLUSION: Through using this combined framework we conclude that the rights of people with albinism in some regions of Africa are not being enacted. Our debate highlights the need to develop a holistic concept of rights for children and young people with albinism which sees human rights as indivisible. We illuminate some of the specific ways in which the lives of children with albinism could be improved by addressing 'barriers to being' and 'barriers to doing', at the heart of which requires a shift in attitude and action to address discrimination.

Lack of adequate sun protection for children with oculocutaneous albinism in South Africa.

BACKGROUND: Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA) are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy of sun protection strategies of children with albinism in order to inform future provision. METHODS: Community based participatory research methods were employed to investigate sun protection strategies in 90 pupils with OCA (40 female and 50 male) boarding at a special school educating pupils with visual impairment in a rural area of northern South Africa. Hats worn and sunscreen preparations used were examined during semi-structured face to face interviews conducted in small peer groups. The resident nurse interpreted if necessary and provided additional information on monitoring and treatment of skin lesions. RESULTS: Participants with albinism in this study were exposed to high levels of ultraviolet radiation throughout the year and showed skin damage despite wearing protective head gear. All except one pupil possessed at least one hat, with a mean brim width of 5.4 cm. Gender differences in sun avoidance behaviour were documented, with females seeking shade during recreational periods and males playing soccer outside. Although 38% of pupils were using a sunscreen with a sun protection factor (SPF) rating, only 12% had government sponsored tubes of SPF15 cream. Government sponsored sunscreen preparations were only provided if actively sought, involving time consuming trips to regional hospitals, with inadequate availability and insufficient supply. CONCLUSION: Children with albinism living away from home in rural areas appear to have inadequate sun protection strategies. Changes in health policy could address these deficiencies. We recommend providing more detailed health care information, giving advice on appropriate styles of hat to wear and how to assess commercial SPF products. Health promotional material should also be evaluated to determine its effectiveness among user groups.

Experiences of a feasibility study of children with albinism in Zimbabwe: a discussion paper.

BACKGROUND: Feasibility studies are often a helpful prelude to constructing fundable research proposals. Where the intended research is in a foreign country, focuses on a vulnerable population, and is aggravated by political and pragmatic challenges, feasibility studies become essential. Albinism, a genetic condition of reduced melanin synthesis, is a major public health issue in southern Africa. Whilst much is known about the health needs of children with albinism, little is understood about how to address these effectively in low income countries. Further, the child care and protection needs of children with albinism are largely unexplored. Zimbabwe's current political and economic climate presents additional challenges to research on the topic. METHOD: The technical, economic, legal, collaborative, operational, schedule and political feasibilities (acronym TELCOSP) to undertaking a study on children with albinism in Zimbabwe were explored over a six week period of fieldwork in the country. RESULTS: Using the TELSCOSP framework allowed a deconstruction of each challenge to provide innovative solutions. The economic and legal feasibility aspects presented some difficulties that will require flexibility and perseverance to overcome. CONCLUSION: With the assistance of the local communities and people with albinism in Zimbabwe, the obstacles appear surmountable. The feasibility study provided a productive framework for addressing potential challenges in studying the needs of Zimbabwe's children living with albinism.

Quantification of myocardial microcirculatory function with X-ray CT.

A mathematical model of the intramyocardial coronary microcirculation is used to explore the validity of a fast CT imaging method for characterizing the myocardial microcirculatory functional status. The fast CT method depends on the demonstrated CT-based estimation of myocardial perfusion (F) and the intramyocardial blood volume (B(v)). The observed curvilinear myocardial blood volume-to-flow relationship, empirically fitted to B(v) = a.F + b.F(0.5), is a signature of the underlying early pathophysiologic processes thought to be involved in systemic disease processes, such as atherosclerosis, hypertension, and diabetes mellitus. The sensitivity and specificity of the CT-based estimate of this characteristic relationship is explored by altering the characteristics of the vascular diameter-to-flow relationship and the variation in the fraction of capillaries perfused at different coronary flows. The simulation results also indicate that if the vascular diameters change so that the vascular resistance corresponds to the change in flow, then the empirically observed myocardial B(v)-to-F relationship holds well.

Cryostatic micro-computed tomography imaging of arterial wall perfusion.

A double-walled copper vessel, 32 cc in volume, was fabricated for scanning tissue specimens while maintained below freezing point. To keep specimen temperature within +/- 1 degrees C, temperature sensors within the chamber control, the rate of inflow of the cold nitrogen gas vented through the chamber. The specimen is attached to a small platform on top of a vertical pin which is attached to the computer-controlled rotating stage under the vessel. The purpose of this arrangement is to permit scanning of specimens up to 2 cm3 that (1) cannot be "fixed" (e.g., with formalin) because of analyses which are incompatible with prior fixation (certain immunohistochemistry and biomolecular methods), or (2) are "snap"-frozen during a transient process, such as the accumulation and/or washout of radiopaque indicators. Examples of "cryoscans" of porcine carotid and coronary artery wall opacification in either untouched or acutely stented arteries, snap-frozen immediately after selective intra-arterial injection of a contrast agent, show accumulation of contrast in the extravascular space indicating increased endothelial permeability or endothelial and medial disruption following stent placement. The detection of contrast in the adventitia suggest that vasa vasorum deliver the contrast agent from the main lumen to the adventitial extravascular space but not to the media.

A health intervention programme for children with albinism at a special school in South Africa.

The genetic condition albinism has a high frequency among the Sotho people of northern South Africa. Affected children have pale hair, eyes and skin-a dramatic contrast to the normal dark pigmentation. Their visual performance is poor and many attend special schools for the visually impaired. Children with albinism experience problems that are, on the one hand, physiological, and, on the other, social-psychological and educational in nature. In this self-report study 38 children at a rural special school described their eye and skin problems, a direct result of their lack of pigmentation, as well as strategies they adopted to manage their condition. A further section of the study deals with the social adaptation difficulties experienced by these children. The questionnaire tested for local belief systems about albinism and how these impact on the socialization of children with albinism. The intervention strategy proposed in this study is based on the assumption that any attempt to address both the health and social problems should be of a holistic, interactionist nature, and be based on the values and belief systems of the local community. In addressing the physical problems, the proposed intervention programme focuses on sensible sun protection habits from a young age and the active participation of the children. To alleviate the social problems a team (interactionist) approach including children, teachers, parents, health officials and the wider community is recommended.