969 resultados para FAMILIAL HYPERCHOLESTEROLEMIA


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Multiple primary tumors (MPT) are a major cause of mortality and morbidity among patients that have survived after the treatment of a first cancer. It has been proposed that after the first primary tumor, high risk of a subsequent tumor could be associated with radiotherapy used as treatment for the first cancer. Other potential risk factors include unhealthy lifestyle, genetic predisposition, aging, environmental determinants or an interaction between these factors. However, an association between the presence of MPT and family history of cancer in cases without clinical and molecular evidence of a known hereditary cancer syndrome is rarely described. Genomic DNA from 12 patients with at least two primary tumors and without mutations on TP53 was evaluated by CytoScan HD Array (Affymetrix). Chromosome Analysis Suite (ChAS) software v.2.0.1 was used considering at least 50 markers for gains; 25 for losses and a minimum of 5Mb for cnLOHs. Data from 1038 phenotypically healthy individuals (Affymetrix) and from Database of Genomic Variants were used as reference. Only alterations found in <1% (rare) or never described (new rare) in the reference population were considered. All cases, except one, presented a family history of cancer. Five cases developed MTP after radiotherapy and only one was located in the same treated area. It was detected 67 rare and 15 new rare genomic alterations encompassing 5.906 genes: 17 losses, 29 gains, and 36 cnLOH. X chromosome presented the higher number of alterations. Two patients with breast cancer presented a large deletion/cnLOH on 7q21. Enrichment analysis revealed 1275 genes associated with breast cancer (p= 0.001), which was diagnosed in 6 patients and their family members (all negative for BRCA1/2 or TP53 mutations). cnLOHs accounted for 44% of all the alterations. A significant proportion of cases (11/12) presented family history of cancer and the patients were not submitted to radiotherapy (7/12). We demonstrated the presence of rare genomic alterations in patients with MPT suggesting their involvement in the MPT development. cnLOH may arise as a new mechanism associated with the risk to develop MPT. All authors have declared no conflicts of interest.

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Purpose – This paper aims to determine the effects of 11S globulin isolated from Chickpea (Cicer arietinum L.) on lipid metabolism in animals subjected to a hypercholesterolemic and hyperlipidemic diet and compared to the drug simvastatin. Design/methodology/approach – Thirty-six male Wistar rats, kept in individual cages and under appropriate conditions, were separated into groups that were fed a normal diet (STD) containing casein as protein source and according to AIN-93G; a high-cholesterol diet (HC), normal diet plus 1 per cent cholesterol and 0.5 per cent cholic acid and 20 per cent coconut oil; HC diet plus the isolated 11S globulin (300 mg/kg/day); and HC diet plus the simvastatin (50 mg/kg/day), both dissolved in saline and administered by gavage for 28 days. After this time, the animals were killed. Findings – The results indicated that the addition of 1 per cent cholesterol and 0.5 per cent cholic acid induced hypercholesterolemia in the animals without interfering with their weight gain. Analyses of total cholesterol (TC), HDL-cholesterol (HDL-C) and triglycerides (TG) in the plasma, and TC and TG in the liver were made. The results show that the protein isolated from chickpea, and given as a single daily dose, did not affect the levels of plasma TC and its fractions, although decreasing the TG levels. Unlike the simvastatin, the chickpea protein significantly reduced TC and TG in the liver relative to HC group. Originality/value – A single daily dose of 11S globulin from chickpea contributed as only as additional 2.8 per cent of dietary protein intake. These findings demonstrate that 11S chickpea protein acts as a functional agent in the lipid metabolism in addition to its nutritional properties.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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The death has been considered a forbidden issue. To develop studies that promote reflections about it allows the enlargement of the understanding as regarding the death as about life in that both are related during the human existence. This research aimed to understand the death’s conceptions and family meanings to three different generations. For this goal, through phenomenological methodology, were achieved individual interviews with adolescents, both his parents and the grandfather, all belonging to the same family. After to understand the participant’s experiences, six thematic categories were created: a) Death’s meanings; b) The death of himself; c) The death of another and/or its possibility; d) Sources of support; e) The family in the death’s presence; f) The life in the death’s inevitability presence. From these categories, the dates were phenomenologically. The participants showed similar reports in several times, confirming the literature that says that the daily life experiences among the family members take the family to form a peculiar way to understand and an interpret their experiences. This identity family, however, did not prevent each participant to develop his particular history based in idiosyncratic elements and associated with the stage of life cycle that it is. The reports showed that the prohibition of death in society is still very present, which prevents that discussions about the issue are present in daily life. This study provided for participants to reflect on their experiences around the phenomenon of death and, consequently, about the inseparable relationship between living and dying. It has also reiterated the literature, showing the similarity of views among the family members of three generations face a vital phenomenon potentially impacting the life cycle of individual and family.

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Violence in adolescence, specifically sexual violence, is a topic of great relevance. Not only in Brazil but the world has witnessed the increase of sexual violence, becoming the most prevalent morbid occurrence in adolescence. Draws attention to the phenomenon of sexual violence against children and adolescents not only the fact that most of the victims are assaulted in their own home environment, but also the type of relationship between victim and aggressor. Thus, based on systemic approach, this study aimed to compose eend family dynamics of adolescent victims of sexual intra-familial. Participants were seven teenagers and their parents, users and beneficiaries of services offered by CREAS - Reference Center for Specialized Social Assistance in a municipality of Mato Grosso do Sul. The instruments used were the Test of Drawing in Colour of the Family (FCDT) and a questionnaire about the pictures taken and family interactions. The results indicated the difficulty in differentiating family roles, especially regarding the differentiation of the mother and daughter, a fact that seemed to be the motivator for the impoverishment of individuation in groups. Also noted the presence of conflict between the familiar figures probably originated from this abusive situation. In this context, the studied families showed communication difficulties between family members, hindering the integration between them, as well as the existence of an authoritarian leadership and strict rules performed by the father figure. These results may support preventive and therapeutic actions to situations of sexual violence against children and adolescents. Thus, it is suggested that psychological counseling for the study participants and other stakeholders with a view to reducing damage and recovery of quality of life for all family members, as well as the need for further studies in the area in question.

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Essential arterial hypertension is the most common risk factor for cardiovascular morbidity and mortality. Regular exercise is a well-established intervention for the prevention and treatment of hypertension. Continuous moderate-intensity exercise training (CMT) that can be sustained for 30 min or more has been traditionally recommended for hypertension prevention and treatment. On the other hand, several studies have shown that high-intensity interval training (HIT), which consists of several bouts of high-intensity exercise (~85% to 95% of HRMAX and/or VO2MAX lasting 1 to 4 min interspersed with intervals of rest or active recovery, is superior to CMT for improving cardiorespiratory fitness, endothelial function and its markers, insulin sensitivity, markers of sympathetic activity and arterial stiffness in hypertensive and normotensive at high familial risk for hypertension subjects. This compelling evidence suggesting larger beneficial effects of HIT for several factors involved in the pathophysiology of hypertension raises the hypothesis that HIT may be more effective for preventing and controlling hypertension.

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Hypothyroidism is one of the most frequent endocrinopathies in dogs, affecting preferentially middle-aged, pure breed animals. Associated clinical signs are variable and often non-specific, including metabolic, dermatological or cardiovascular alterations. The main laboratorial findings are non-regenerative anemia and hypercholesterolemia. Hyponatremia and an increase in alanine transferase and alkaline phosphatase activities can also be observed with lower frequency. There are specific diagnostic tests that can be used to help diagnose hypothyroidism, and those should be interpreted in the light of the animal´s clinical symptoms. The levels of thyroxine stimulating hormone (TSH) and both free and total thyroxine (T4) are the most used hormonal tests. It is important to differentiate between hypothyroidism and the euthyroid sick syndrome, a condition that may be caused by severe diseases such as hyperadrenocorticism and lead to decreased TSH and T4 levels as well. Levothyroxine sodium is the standard treatment. The main objective of this paper is to review hypothyroidism in dogs, since this is a very common disease in small animal clinics, but with difficult diagnosis.

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Hyperadrenocorticism is a relatively common endocrinopathy in dogs, which is associated to an excessive production or administration of cortisol. The most affected breeds are Poodles, Teckels, Boxers, Boston Terriers and Beagles. The clinical signs most commonly observed are polyuria, polydipsia, polyfagia, panting, distended abdomen, endocrine alopecia, muscular weakness and lethargy. Laboratorial abnormalities include stress leukogram, increase in alkaline phosphatase and alanine aminotransferase activities, hypercholesterolemia, lipemia, hyperglycemia and hyposthenuria. The preferred essay to evaluate adrenal gland function is the low-dose dexamethasone suppression test, whereas the most used treatments include mitotane and trilostane. The objective of this paper is to review hyperadrenocorticism in dogs, because this disease is relatively common in small animal clinics and has many long-term complications.