Genetic Predisposition
Mostrando 13-24 de 250 artigos, teses e dissertações.
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13. Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)
Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Ri
An. Bras. Dermatol.. Publicado em: 2018-02
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14. A never-ending story: the steadily growing family of the FA and FA-like genes
Abstract Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leuk
Genet. Mol. Biol.. Publicado em: 29/05/2017
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15. Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study
Abstract Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH consistency as an indicator of familial cancer predisposition. We used self-reported CFH to identify t
Genet. Mol. Biol.. Publicado em: 03/06/2016
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16. Genotypic diversity of the Killer Cell Immunoglobulin-like Receptors (KIR) and their HLA class I Ligands in a Saudi population
Abstract Killer Cell Immunoglobulin-like Receptors (KIR) have been used as good markers for the study of genetic predisposition in many diseases and in human genetic population dynamics. In this context, we have investigated the genetic diversity of KIR genes and their main HLA class I ligands in Saudi population and compared the data with other studies of n
Genet. Mol. Biol.. Publicado em: 2016-03
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17. Pendulous Crop in Broilers
ABSTRACTPendulous crop is a physiological disorder, which etiology is still unknown and it is characterized by abnormal dilation of the crop of poultry. This article aims at reporting a case of high incidence of pendulous crop in male and female broilers Cobb 500, as well as to discuss its possible causes and consequences. In an experiment with broilers perf
Rev. Bras. Cienc. Avic.. Publicado em: 2015-09
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18. Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
Objective This study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance,
Arch. Endocrinol. Metab.. Publicado em: 2015-08
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19. Molecular characterisation and disease severity of leptospirosis in Sri Lanka
Leptospirosis is a re-emerging zoonotic disease all over the world, important in tropical and subtropical areas. A majority of leptospirosis infected patients present as subclinical or mild disease while 5-10% may develop severe infection requiring hospitalisation and critical care. It is possible that several factors, such as the infecting serovar, level of
Mem. Inst. Oswaldo Cruz. Publicado em: 09/06/2015
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20. Interleukin-10 rs1800896 and CXCR2 rs1126579 polymorphisms modulate the predisposition to septic shock
Despite major improvements in its treatment and diagnosis, sepsis is still a leading cause of death and admittance to the intensive care unit (ICU). Failure to identify patients at high risk of developing septic shock contributes to an increase in the sepsis burden and rapid molecular tests are currently the most promising avenue to aid in patient risk deter
Mem. Inst. Oswaldo Cruz. Publicado em: 02/06/2015
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21. Association study in Alzheimer’s disease of single nucleotide polymorphisms implicated with coffee consumption
Background There is evidence from animal and in vitro models of the protective effects of caffeine in Alzheimer’s disease. The suggested mechanisms through which caffeine may protect neurons against Alzheimer’s disease pathology include the facilitation of beta-amyloid clearance, upregulation of cholinergic transmission, and increased neuronal plasticit
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2015-06
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22. DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic an
Braz J Med Biol Res. Publicado em: 28/04/2015
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23. Chronic kidney disease in disadvantaged populations
The increased burden of chronic kidney disease (CKD) in disadvantaged populations is due to both global factors and population-specific issues. Low socioeconomic status and poor access to care contribute to health care disparities and exacerbate the negative effects of genetic or biological predisposition. Provision of appropriate renal care to these populat
Braz J Med Biol Res. Publicado em: 06/03/2015
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24. Melasma: a clinical and epidemiological review
Melasma is a chronic acquired hypermelanosis of the skin, characterized by irregular brown macules symmetrically distributed on sun-exposed areas of the body, particularly on the face. It is a common cause of demand for dermatological care that affects mainly women (especially during the menacme), and more pigmented phenotypes (Fitzpatrick skin types III-V).
An. Bras. Dermatol.. Publicado em: 2014-09