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GENETICA MEDICA THOMPSON 7 EDICAO PDF

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Thompson & Thompson. GENETICS IN MEDICINE. Seventh Edition. Robert L. Nussbaum, MD. Holly Smith Distinguished Professor in Science and Medicine. DOWNLOAD PDF Thompson & Thompson: Genética en medicina · Read more Thompson & Thompson Genetics in Medicine, Seventh Edition. Read more. Genética en medicina - Thompson & Thompson (7a Edición).pdf. Cargado por Deyanira Download as PDF or read online from Scribd. Flag for inappropriate.


Genetica Medica Thompson 7 Edicao Pdf

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THOMPSON & THOMPSON GENETICA MEDICA (eBook) available to download online at A 7a edicao de Thompson e Thompson Genetica Medica oferece uma. Septima edicion de esta Start by marking “Thompson & Thompson. Genetica En Medicina + Student Consult” as Want to Read: Want to ebook, pages. sppn.info: THOMPSON & THOMPSON. Genetica en medicina + Student Consult (Spanish Edition) (): Robert L. Nussbaum, Roderick R.

Infertility shows itself in almost the absolute majority of cases, as an irreversible situation.

As variants, the genotype and phenotype amplitude can be understood to be characteristic of the syndrome. The total deletion of the X chromosome's short arm frequently results in the classic phenotype, whilst smaller alterations are associated with low height, primary or secondary amenorrhea and infertility. The deletions of the long arm denote a wide range of phenotypes, although only small portions are directly related to the syndrome, especially those linked to gonadal development and the ultrasound test will reveals diminished or streak gonads.

For treatment, the principal recommendation is hormonal reposition therapy HRT , looking towards the prevention of cardiovascular illnesses and osteoporosis.

At some study centers, for the younger patients, there can be the indication of using a growth hormone GH and of estrogen, as treatment for low height and the construction of a female biotype that is not infantile2.

Defense mechanisms This is a group of operations carried out by the ego in the face of the dangers that come from the id, superego and external reality. Defensive behaviors are not exclusively of the pathology and they normally contribute to the adjustment, adaptation and balancing of personality.

Each person shows evolution in their defensive structures and that, which might have been adequate in childhood or in adolescence, may not serve in adulthood. Therefore, this defensive repertoire can enunciate plasticity or rigidity. However, frequently every individual subconsciously selects a number clearly restrictive defensive behaviors, which they make use of to deal with the conflicts coming from their internal or external world.

That is to say, whatever defensive structure on being built up as a subconscious choice to operate pushes away other possibilities, which then produce a certain functional limitation of the ego Notwithstanding, all of the defensive mechanisms require the expenditure of psychic energy, some being more efficient than others. The mechanisms considered more mature are those that demand less energy expenditure, in the sense that they are successful and generate the stoppage of that which is rejected.

While the mechanisms considered neurotic or immature, by being inefficient, demand a high expenditure of energy because of the repetition or disturbance of the rejection process6,7. Subjects and methods In this cross transversal study the clinical-qualitative methodology was adopted, which involved an individualization and refinement of the qualitative methodology and is conceived as a scientific means of understanding and interpreting the psychological and psycho-social significances that the people linked to health problems attribute to phenomena in the field of health-illness.

This methodology is supported by three pillars: existentialist attitude which appraises the anguish and anxiety present in the individual to be studied; clinical attitude involving leaning towards the person and listening to their emotional suffering with the desire of offering help: and psychoanalytical attitude involving the use of the conceptions coming from the subconscious dynamics of the studied person, for the construction and application of instruments to be used in the research, as well as for the theoretical referential in the discussion of the results8.

A psychological interview9, semidirected with open-ended questions10, was applied, as the instrument, to 13 women with phenotype compatible to TS and variants, involving semester or annual accompaniment at the CAISM-UNICAMP, during the period between and ; their ages varied from 18 to 45 years. The intentional sample11, since those interviewed were contacted after verification at the Attendance Records Office, gave us the freedom to choose the subjects looking towards attending to the research's specific objectives, and was closed via the criteria of saturation That is to say, the interviews were ended from the moment at which they began to become repetitive, adding little of new substance and collected data being sufficient for an in-depth discussion.

The recorded material, which was later transcribed, was submitted to Content Qualitative Analysis from which emerged as one of the categories, the defense mechanisms. For the interpretation of the data, a psychodynamic approach was used, allied to an eclectic framework of theoretical references for the discussion in the spirit of interdisciplinary cooperation For the identity preservation of the women who participated in the research, their names were substituted by names of flowers.

These women sought out the CAISM due to a situation of primary amenorrhea and, according to their accounts, need to have medical accompaniment all of their lives due to interconnecting factors originating from their TS such as osteoporosis, cardiovascular diseases, renal illnesses among others, as well as their infertility.

On the psychological level, the lack of knowledge about the syndrome brings about fears and speculations on other correlations such as mental illness, as well as the psycho-social conflicts such as difficulties in interpersonal relationships; feelings of resignation, rage, impotence, abandon, and states of depression were also unveiled. In order to deal with all of these interconnecting factors they made use of the mechanisms of denial negation , repression, fantasy, annulment, adaptation and sublimation.

Discussion Their quotations and significance We live in a world of symbols; a world of symbols lives in us.

Symbol, whose Greek root sym signifies together, was for the Greeks a sign of recognition, formed by two halves of a separated object, which, on coming together, is the lost and re-formed unit14, The visible that points to the invisible This being the case, the words of the researched women point to important meanings besides the visible fear in the face of the diagnosis of a genetic illness: "Does TS have any correlation with mental deficiency?

On knowing about my diagnosis, I went in search of everything about the syndrome since I had believed that mental deficiency was one of the syndrome's characteristics" Tulip.

Thompson & Thompson. Genetica En Medicina + Student Consult

These words of anguish illustrate one of the factors that these women associate with TS, which is the fear of, in conjunction with the syndrome, developing a situation of mental deficiency. This patient, even after having sought out information on the syndrome, still looked for confirmation with the researcher in order to acalm down her anxiety coming from an unfavorable and fearful diagnosis and the ignorance of what it really could signify.

Human social groups define normal or stigmatized standards. The stigma imposes itself on all relationships, like a social construction that is internalized by the majority of people as abnormal. Based upon this premise, we make various types of discrimination, by way of which effectively, and very often without thinking, we reduce their chances of life" Within the stigmas historically constructed is that of the person with mental deficiency, currently designated "with special needs" our underlining.

Capitalist society, by way of its rule, privileges "having" in the place of "being". It is a society that does not always value collaboration and solidarity as a counterbalance to unyielding competition and violence. In this type of society, to be a person with special needs is equivalent to not having your due rights recognized, and not even having the equivalent opportunities to those considered normal or non-stigmatized. In view of this, one can infer that the women with TS fear not being fully socially acceptable due to the stigma that their illness brings.

Feeling different in a massification society that punishes the one who is not equal, stigmatizing them, always brings about an anguished interaction Mao, Q.

Extremely high association between appearance of HLA antibodies and failure of kidney grafts in a five-year longitudinal study. Am J Transplantation 7: , Marsh, SG.

Human Immunology ; Melcher, M. Antibodymediated rejection of a pancreas allograft. Am J Transpl 6: , Mizutani, K.

Association of kidney transplant failure and antibodies against MIC-A. Am J Transpl 5: , Opelz, G. Non-HLA transplantation immunity revealed by lymphocytotoxic antibodies.

Lancet , Effect of human leukocyte antigen compatibility on kidney graft survival: Comparative analysis of two decades. Tranplantation 84 2 : , Pidwell, DJ. Interpretation of Crossmatch results. Pradhan, M. Successful deceased donor renal transplant in a sensitized pediatric recipient with the use of plasmapheresis.

Pediatric Transplantation , Ranjan, P. The role of C4d immunostaining in the evaluation of the causes of renal allograft dysfunction. Nephrol Dial Transplant , Robinson J, Waller M.

REFERÊNCIAS BIBLIOGRÁFICAS SUGERIDAS LIVROS ASHI

Nucleic Acids Res. Rodriguez, L. Schneider, S.

Arlequin, A. A software for population genetics data analysis ver.

Genética en medicina - Thompson & Thompson (7a Edición).pdf

Solberg, O. K, Singer. Thomson, G. Balancing selection and heterogeneity across the classical human leukocyte antigen loci: a meta-analytic review of population studies. Am J Transplant 7 3 , Stegall, M. Acomparison of plasmapheresis versus high-dose IVIG desensitization in renal allograft recipients with high levels of donor specific alloantibody.

Am J Transplantation 6 2 : , Terasaki, P. Predicture value of HLA antibodies and serum creatinine in chronic rejection: results of 2 years prospective Trial. Transplantation 80 9 : , Humoral Theory of transplantation. American Journal Transplantation , The New England Journal of Medicine 13 : , The New England Journal of Medicine ; Zachary, A.

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Showing Rating details. Sort order. Heather Anderson rated it it was amazing Sep 12, Golnoosh rated it it was amazing Feb 02, Ashling rated it it was amazing Apr 28, Paule rated it it was amazing Dec 29, Amin Mirdamadian rated it it was amazing Mar 12, That is to say, the interviews were ended from the moment at which they began to become repetitive, adding little of new substance and collected data being sufficient for an in-depth discussion.

Early recurrent spontaneous abortion: how to take care in ? Nutrition, v. Carneiro S. Am J Transpl 5: , Forty cases of recurrent respiratory infections were investigated in a retrospective study.