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List the various types of mutations & discuss their effects by giving examples for each type purchase sildalist 120 mg. Explain the criteria discount 120 mg sildalist visa, the pathogenesis effective 120 mg sildalist, & give clinical examples for the 3 main mendelian patterns of inheritance. Explain the general pathogenesis of mendelian disorders associated with enzyme defects. Describe the karyotypes & the clinical features of Turner syndrome Hypofunction of which organ can explain these clinical features? Describe the cause, the karyotypes, & the clinical features of Klinefelter syndrome. Tesfaye is married to an unrelated woman called Tenagne, & has a 2 year old daughter, Mimi. Beletechs sister who is called W/ro Kelemuwa is the mother of W/ro Almazs husband, Ato Worku, who is 25 years old. What is the pattern of transmission of the of disease X, & what is the risk of disease X for W/ro Almazs next child? Have birds eye view concept on immunodeficiency states Before reading this chapter, the student is advised to review his/her immunology text or lecture note. Hypersensitivity Reactions The purpose of the immune response is to protect against invasion by foreign organisms, but they often lead to host tissue damage. An exaggerated immune response that results in tissue injury is broadly referred to as a hypersensitivity reaction. One leading to mast cell degranulation with discharge of preformed (primary) mediators and the other involving denovo synthesis and release of secondary mediators. Initial phase (response): Characterized by vasodilatation, vascular leakage, and depending on the location, smooth muscle spasm or glandular secretions. Mast cells are bone marrow driven cells widely distributed in tissues around blood vessels, and sub epithelial sites where type I reaction occurs. Morphology: Histamine and leukotriens are released rapidly from sensitized mast cells and are responsible for intense immediate reaction characterized by edema, mucous secretions and smooth muscles spasms. Three different antibody-dependent mechanisms are involved in this type of reaction 141 (i) Complement-dependent reaction i. Direct lysis: a) It is effected by complements activation, formation of membrane attack complex (C5 9). This membrane attack complex then disrupts cell membrane integrity by drilling a hole. In anucleated cells once and in nucleated cells many attacks of the complex are needed for cell lysis, because the latter ones have abilities to repair cell membrane injuries rapidly. Examples include red blood cells, leukocytes and platelets disorders: Transfusion reaction; haemolytic anemia; Agranuloytosis; Thrombocytopenia; Certain drug reaction ii. The target cells coated with IgG antibodies are killed by a variety of nonsensitized cells that have Fc receptors. Antibody-mediated cellular dysfunction In some cases, antibodies directed against cell surface receptors impair or dysregulated function without causing cell injury or inflammation. For example: In Myasthenia Gravis, antibodies reactive with acetylcholine receptors in the motor end plates of skeletal muscles impair neuromuscular transmission and cause muscle weakness. Exogenous origin Bacteria streptococcus (infective endocarditis) Viruses Hepatitis B virus (Polyarteritis nodosa) Fungi Actinomycetes (farmers lung) Parasites plasmodium species (glomerulonephritis) Drugs quinidin (hemolytic anemia) Foreign serum (serum sickness) b. Endogeneous origin Nuclear components (systemic lupus erythematosis) Immunoglobulins (rheumatoid arthritis) Tumour antigen (glomerulonephritis) Therefore, autoimmune diseases are hypersensitivity diseases in which the exaggerated immune response is directed against the self antigens as exemplified by the above three diseases. Formation of Ag-Ab complex Introduction of an antigen into the circulation, then Production of specific antibodies by immuno-competent cells and subsequent antigen antibody formation b. Deposition of immune complexes The mere formation of antigen-antibody complex in the circulation does not imply presence of disease. Inflammatory reaction After immune complexes are deposited in tissues acute inflammatory reactions ensues and the damage is similar despite the nature and location of tissues. Neutorphiles and macrophages can be activates by immune complexes even in absence of complements. With either scenario, phagocytosis of immune complexes is effected with subsequent release of chemical mediators at site of immune deposition and subsequent tissue necrosis. Morphology of immune complex-mediated hypersensitivity reaction The morphologic consequences are dominated by acute necrotizing vasculitis with intense neutrophilic exudation permiting the entire arterial wall. Affected glomeruli are hyper cellular with proliferation of endothelial and mesengial cells accompanied by neutrophillic and mononuclear infiltration. Classification of immune complex-mediated diseases: Immune complex-mediated diseases can be categorized into systemic immune complexes diseases (e. Systemic immune-complex diseases: Acute forms: If the disease results from a single large exposure of antigen / ex: acute post-streptococal glomerulonephritis and acute serum sickness/ all lesion then tend to resolve owing to catabolism of the immune complexes. Arthus reaction: The Arthur reaction is defined as a localized area of tissue necrosis resulting from an immune complex vasculitis usually elicited in the skin. Arthus reaction occurs at site of inoculation of an antigen and depends on the presence of precipitating antibody in the 144 circulation / with antibody excess/ that resulted in immune complex deposition. Inflammatory reaction develops over 4-8 hours and may progress to tissue necrosis as described above. Continuous antigen is necessary for the development of chronic immune complex disease. Delayed type hypersensitivity: this is typically seen in tuberculin reaction, which is produced by the intra-cutaneous injection of tuberculin, a protein lipopolysaccharide component of the tubercle bacilli. Some of these activated cells so formed enter into the circulation and remain in the memory pool of T cells for long period of time. Immunologic Tolerance Immunologic tolerance is a state in which an individual is incapable of developing an immune response to specific antigens. Tolerance can be broadly classified into two groups: central and peripheral tolerance. T cells that bear receptors from self-antigens undergo apoptosis within/ during the process of T-cell maturation. The engagement of Fas by Fas ligand co-expressed on activated T-cells dampens the immune response by inducing apotosis of activated T-cells ( Fas mediated apoptosis) 2. When normal tolerance of the self antigens by the immune system fails, autoimmune diseases result. Autoimmune Diseases Definition: Autoimmunity implies that an immune response has been generated against self-antigens /Autoantigens/. Central to the concept of autoimmune diseases is a breakdown of the ability of the immune system to differentiate between self and non-self antigens. The presence of circulating autoantibodies does not necessarily indicate the presence of autoimmune disease.

There are many cultural beliefs surrounding slowly passes through the birth canal purchase sildalist 120mg with mastercard. Postpartum blood loss is another decrease the womans sexual desire cheap 120mgmg sildalist free shipping, prevent promiscu- concern due to the cutting of scar tissue order 120 mg sildalist free shipping, often by ity, and ensure chastity before marriage; that it enhances untrained midwives. Prisoners of ritual: An odyssey into female quent complications include severe pain, blood loss, circumcision in Africa. Primary among these is that it fails to recognize that women and men do not always embody their respective archetypes, other than to label this diversity as deviant. Furthermore, it does not address individual differences in behavior in various situations. Sex-role theory also fails to articulate how characteristics become assigned to femi- nine and masculine archetypes. For example, there may be no daily activity that requires more rational thinking Femininity Femininity is defined in various than being the primary caretaker of a child, yet rational- dictionaries in either a circular manner as the quality of ity is assigned as a characteristic of the masculine arche- being feminine or indirectly as qualities associated with type. This is because femininity is typically professional sports are those who are described as hav- conceptualized as a constellation of multiple interacting ing an intuitive sense of the game, yet intuition is elements that coalesce to yield an energy, an essence, assigned as a characteristic of the feminine archetype. However, using a linguistic metaphor to and exclusive linkage of feminine worth with chastity. Consequently, in addition integrate archetypical ways of behaving that are appro- to archetypical representations of chastity, religious texts priate to their assigned sex from societys institutions. Theory of Hegemonic Masculinity proposes that an However, sex-role theory fails to account for the fact archetypical form of masculinity exists in a given cul- that cultures do not value the characteristics of each sex ture within a particular historical period, that masculin- equally. Women are not esteemed for their passivity to ity always defines itself as different from and superior the same degree as men are for their aggressiveness. At the heart of groups view male dominance as fair, reasonable, and in radical feminism is challenging how gender is con- the best interests of the society (see Masculinity). Radical feminism femininity is constructed around adaptation to male questions authority, including authority arising from power. In this respect, femininity evolved into cultural feminism, the fundamental could be construed as a social euphemism for female approach of the two movements is quite different. Cultural feminists rationalize that if changing the dominant culture is unrealistic, then at least they can avoid it as much as possible. The justifi- Suggested Reading cation for abandoning social change as a goal emerges Hofstede, G. Masculinity and femininity: out of a collection of theoretical work that argues for The taboo dimension of national cultures (Cross-Cultural the inherent superiority of the female sex (women are Psychology, Vol. Commonly but incorrectly labeled lesbians, these are fem- inists across all sexual orientations who advocate separa- tion from men; in some cases it is total, whereas in others it is partial. The essence of separatism is that by separat- Feminism To speak of feminism in the context of ing from men, women are able to view themselves in a a set of overarching ideals that define a unified move- different context. It is more accurate to participating in various forms of temporary separation for speak of feminisms, which highlights the fact that iden- personal growth (e. Characteristic of any expanding movement, there are Marxist/socialist feminism is another branch that disagreements and overlap between feminists. Marxist/socialist does not mean to suggest that feminism is fragmented, feminists argue that women are oppressed, and attribute but rather to emphasize the diversity of feminist thought that oppression to the capitalist/private property system. They advocate the overthrow of the capitalist system Radical feminism is paramount among the many fla- as the ultimate way of ending womens oppression. Often characterized as femi- Radical feminism and its numerous branches pri- nisms unappealing element, radical feminism has been marily represent a movement focused on issues defined the creative engine generating the theoretical develop- by white women, rendering women of color invisible. Radical feminism was born out of the emerged a strong group of feminists of color who civil rights and peace movements of the late 1960s. Feminists of color maintain that womens oppression 264 Feminist Ethics must be considered in a broader context than just a actually encompasses greatly divergent views and myopic focus on sexism. In addition, a distinction has ented and in some circles is combined with Goddess been drawn between feminist and feminine ethics. Thus, parallels are often drawn between soci- care, compassion, and networks of communications. The etys oppression of women and its treatment of the ethic of care rejects the cognitive emphasis of other environment. By resisting patriarchal domination, approaches to ethical analysis and emphasizes the moral ecofeminists believe that they are also resisting the role of emotions. Beyond its tive approaches is criticized precisely because it fails to focus on socially conscious environmentalism, ecofem- recognize the attachment inherent in relationships. Feminist/feminine ethics accomplishes four tasks: Liberal feminism is a variety of feminism that works (a) the provision of an emphasis on the importance of within the structure of mainstream society to integrate women and their interests; (b) the provision of a focus women into that structure. It is basically a social justice on issues especially affecting women; (c) the reexami- movement that seeks equality for women and traces its nation of fundamental assumptions; and (d) the incor- roots back to the feminism of past centuries, such as the poration of feminist insights from other fields into the suffragist movement. Feminist medical ethics has been tion strategies of liberal feminists line up well with the assigned the responsibility of developing conceptual kinder and gentler beliefs of cultural feminists. However, models that will restructure the power associated with these methods have met with limited success. Although healing, to allow individuals to have the maximum liberal feminists are associated with some of the most pro- degree of control possible over their own health. For instance, while many ethicists approach the issue of abortion by weighing the Suggested Reading relative importance of preserving life or protecting auton- Cott, N. The consequences of the resulting narrow perspective are troublesome: (a) hypotheses are Feminist Ethics It cannot be said that there is one developed and research conducted without reference to feminist perspective on issues related to health and health sex or gender, although the frequency of various care. An ethic of care: Feminist and interdis- as male diseases, resulting in little research being con- ciplinary perspectives. Ethical and ducted on women with those diseases; (c) research legal issues of including women in clinical studies (Vol. Feminist approaches to bioethics: Theoretical reflec- tions and practical applications. Feminism and bioethics: Beyond reproduc- specifically exclude women from participation in specific tion. The one notable exception has been the inclu- and named in the early 1970s and is currently the lead- sion of women in contraceptive research. Genetic research has been of particular concern for Alcohol is directly responsible for up to 20% of cases of some feminist ethicists. Because of these concerns, at least need to be screened for alcohol use disorders. Surveys one ethicist has asserted that any ethical guidelines for estimate that 3. Several factors help determine the effect alcohol Suggested Reading will have on the fetus. Bloomington: Indiana University and immature liver, the fetus can stay drunk for 34 Press.

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