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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. yazik.info: THOMPSON & THOMPSON. Genetica en medicina + Student Consult (Spanish Edition) (): Robert L. Nussbaum, Roderick R.

Santos, J. Wauters, M. Merters, I. Polymorphim in the leptin receptor gene, body composition and fat distribution in over weight and obese women. International Journal of Obesity.

Van Rossum, C. Hoebee, B. Van Baak, M. Mars, M. Saris, W. Seidell, J. Geneticvariation in theleptin receptor gene, leptin and weight gain in Young Dutchadults. Obesity Research, v. Ramachandrappa S, Farooqi IS. Genetic approaches to understanding human obesity.

J Clin Invest. Medicine Baltimore , v.

Dis Markers, v. Braz J Med Biol Res, v. Association of cocaine- and amphetamine-related transcript, leptin and leptin receptor gene polymorphisms with anthropometric obesity phenotype indicators in South African learners. J Nutrigenet Nutrigenomics, v. Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.

Leptin receptor gene polymorphism are associated with insulin in obese womem with impaired glucose tolerance. J Clin Endrocrinol Metab, v.

Association between feeding behavior, and genetic polymorphism of leptin and its receptor in obese Chilean children. Nutr Hosp, v. Lipids Health Dis, v. The impact of obesity-related SNP on appetite and energy intake. Br J Nutr, v. To this end, the majority of diagnoses occur during early childhood because of the child's accentuated low height, or during puberty in the face of the absence of the secondary sexual characteristics development and primary or secondary amenorrhea.

At adult age these women can present the entire syndrome's phenotype spectrum, such as autoimmune thyroiditis and renal and cardiac abnormalities, depending upon the extension and location of the chromosome lesion. The hormonal profile is characteristic, by reason of ovarian insufficiency, bringing about low levels of estrogen and high levels of follicle-stimulating hormone FSH and luteinizing hormone LH. 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.

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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.

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 the photograph: mother and daughter.

Thompson & Thompson Genética Medica 7ª Edição PARTE 1.pdf

The patient's collaboration during the care was very deficient, showing agitation and intolerance. For the continuity of her treatment aiming at the maintenance of her oral health, a referral was made to the assistance department of the UFGRS School of Dentistry for the care of patients with special needs. In this study, the patient presented some classic signs of this syndrome, such as round face, short neck, hypothyroidism, mental disability, and obesity, presenting the possible diagnosis of PHP 1 - The patient was female, as in most reported cases of AHO, as the probability of occurrence is twice as high in women as in men 4 , 9 - 10 , In this clinical case, the patient demonstrated mental disability and an anterior open bite; however, occlusal alteration is possibly not related to AHO, unlike that found in other studies in relation to malocclusion 10 - The motivation for the practice of oral hygiene is extremely important since it is common for AHO patients to present bacterial plaque accumulation, caused by poor brushing due to psychomotor problems or by crowding.

Thus, the patient and her caregivers were oriented in this direction, which was the same procedure adopted in other studies 3 , 10 - 11 , Patients with mental disabilities are considered patients with special needs PSN and will receive a differentiated attention in dental care.

Thompson & Thompson Genética Medica 7ª Edição PARTE 1.pdf

A PSN is any patient who has one or more temporary or permanent limitations of a mental, physical, sensory, emotional, growth, or medical nature that prevents him or her from being subjected to a conventional dental situation For the care of these patients, it is necessary that a correct approach is performed, and this will be individualised and will depend on the type of illness that the individual presents.

It is important to know the patient, his or her level of disability, and how collaborative he or she can be. From then on, planning can be done to determine which type of treatment will be most appropriate, whether performed in the office or in the surgical suite under sedation or general anaesthesia , and whether there is a need for containment.

In addition, the involvement of the family throughout the process is very important for the improvement of the patient's health. In this clinical case, there was a certain difficulty of communication with the patient. Therefore, the family involvement was of great value As the patient has asthma, she was asked by the team who will attend her for an evaluation from the pulmonologist for the use of general anaesthesia in the case of hospital assistance.

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The recognition of PSNs and the individualisation of their treatments and a broad knowledge of the professional involved and their training in these cases are essential for the success of dental care. Hypoplasia, 10 , 12 - 13 late eruption of teeth 12 - 13 , ATM ankylosis 3 , 10 , xerostomia 10 - 11 , several decayed teeth 3 , 10 , 12 , and dental crowding 11 , 13 , among other characteristics, were described in the literature; however, these conditions were not present in this case at the time of the examinations.

There are not always dental changes in AHO patients; however, it is up to the dentist to have knowledge about this syndrome to facilitate treatment since the patient may present difficulties in collaborating with care or motor incapacity for oral health care. In addition, this knowledge is relevant for the possible identification of the syndrome and possible referral of the patient to a genetic investigation and treatment with an endocrinologist.

The need for multidisciplinary treatment is very important and is increasingly growing in dentistry. The dental surgeon should evaluate the general health condition of the patient and not only the oral health to then determine a diagnosis. However, this is only possible with the involvement of several health professionals in partnership with the dental surgeon in the diagnosis and treatment of the patient and the commitment of the professional and their interest in expanding their knowledge about different conditions.

This will lead to better results and greater efficiency in the execution of dental treatment. In view of the neuropsychomotor disability of the patient, periodic visits to the dentist are important for follow up and evaluation of the oral cavity so that there is a reinforcement of oral hygiene guidelines for the patient and their caregivers.

The frequency of these visits will occur according to the collaboration and oral conditions of the patient every month, every three months, every six months, or every year.

In the present case, it was only possible to extract tooth 65 and provide oral hygiene instructions. The dental treatment of patients with this syndrome requires specialised care.The objective of this study is to describe a clinical case of a patient attending the dental service associated with an extension programme of the Faculty of Dentistry of the Federal University of Rio Grande do Sul UFRGS.

Kirtcharoen, K. The antigens do not act directly on the non-activated B lymphocytes. Want to Read saving….

The agammaglobulinemia genetic defect includes the XLA in the group of the primary immunodeficiency diseases due to mutation of the BTK gene.

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