Oculocutaneous Albinism Literature review Example | Topics and Well Written Essays - 1000 words

Oculocutaneous Albinism - Literature review Example Albinism is a typical hereditary skin disease with varied clinical presentation and inheritance. It is mostly present from birth and increases the risk of cancer. It is not curable and there is no specific treatment. It can be a part of syndromes which cause bleeding diathesis and recurrent infections (Okulicz, 2002). In this article, a specific type of albinism, the oculocutaneous type will be discussed. Albinism Albinism is a group of disorders that are hereditary in nature and are related to abnormality in the synthesis or distribution of melanin (Okulicz, 2002). The abnormality of pigmentation manifests in eyes with or without involvement of skin and hair (Park et al, 2012). Thus, clinically, there are 2 categories of albinism. They are ocular albinism where in eyes are involved and skin involvement is either absent or minimal, and oculocutaneous albinism in which skin and eyes are involved. Oculocutaneous albinism may be defined as "a group of congenital heterogeneous disorders in which there is either complete or partial absence of pigment in the skin, hair and eyes because of the absence of or a defect in an enzyme involved in the production of melanin" (Park et al, 2011). In both the conditions, the primary morbidity is related to the eye. The pattern of inheritance in albinism is variable. While the ocular albinism is through autosomal recessive or sex-linked inheritance, oculo-cutaneous albinism is autosomal recessive (Park et al, 2012). ... In patients with Hermansky-Pudlak syndrome, easy bruising is seen and in those with Chediak-Higashi syndrome, recurrent infections are noted. In X-linked ocular albinism, decreased hearing is seen (Okulicz, 2002). As far as discoloration of eyes, skin and hair is concerned, the range of depigmentation is variable and depends on the type of albinism. The color of the iris is usually blue and can even be brown. The iris will have transillumination defects. The fundus also, in general, is hypopigmented. To broadly classify, there are 2 forms of albinism. The classification is based on the tyrosinase hair bulb incubation test which differentiates between the tyrosinase-positive and tyrosinase-negative forms. In those who are tyrosinase-positive, some degree of production of pigments occurs. In those who are tyrosinase-negative, there is absolutely no pigment production (Okulicz, 2002). Oculocutaneous albinism There are four types of oculocutaneous albinism or OCA (Okulicz, 2002). OCA typ e 1A is the classic tyrosinase negative type of OCA. In this condition, the infant is born with blue-grey irides, pink colored skin, white hair and predominant red reflex (Wei et al, 2011). The individuals have manifestations of the defects of eye as discussed above. They never develop pigmented lesions like freckles, naevi or lentigines. Hair becomes yellow with age due to denaturation of the keratin following exposure to ultraviolet light. In type1B, the presentation features at birth are similar to those in type 1A. However, as the age advances, the hair color darkens to brown color. The skin can get tanned on exposure to sunlight and can even develop pigmented lesions like naevi and freckles. The

Developing yourself and others Coursework Example | Topics and Well Written Essays - 1250 words

Developing yourself and others - Coursework Example I like action oriented careers, in which I will be in the goal settings and implementations. My colleague has a converging learning style. He likes experimenting first on theories and principles before he can apply on real office work. He questions everything he is given to work with and rarely does his work following gut feelings. He is interested in developmental work with innovations such as technology and science. For him, everything has to be tackled with an appropriate solution, and what worked for a single problem may not work for another one unless, it is first tried and tested. He is the kind of person who can come up with manuals to be used in the work, and everybody should use the manual when solving the particular problem. The developmental needs assessment for me and my colleague was done using a SWOT analysis. SWOT analysis is an analysis that focuses on strengths, weaknesses, opportunities and threats (Burrow, 2012 p. 148). The first strength I harbor is that I am a hands-on person, and like doing things the best way in which I think will work out. The market is always dynamic changing from day to day and thus what worked yesterday may not function today. The opportunity I have is that I am a fast learner, and I am also very flexible to change and can thus adapt to any organizational setting. My major weakness lies in the use of standards and formulas. I cannot do a job that requires the use of standards, as I prefer taking shortcuts. The primary threat I harbor is the flooding of the market with people who are whole rounded. The major need is to learn how to use standards and patience in implementation of strategies. My colleague’s strength lies in the ability to use standards and use only those formulas that are tested and tried. His major opportunity lies in the fact that he is still young and in school, and, for this reason, will climb the corporate ladder fast because of the amount of certificates he has. His major weakness is