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3.
J Eur Acad Dermatol Venereol ; 27(2): e179-85, 2013 Feb.
Article in English | MEDLINE | ID: mdl-22621339

ABSTRACT

BACKGROUND: Patients with familial melanoma or multiple primary melanoma represent a high-risk population to hereditary melanoma. Mutations in susceptibility genes, such as CDKN2A, CDK4 and MC1R, have been associated with the development of melanoma. OBJECTIVES: The purpose of this study was to determine the genotypic background of patients with familial and/or multiple melanoma in southern Brazil. METHODS: This study analysed 33 cases (5 patients with multiple primary melanoma and 28 patients from families with at least two well documented cases) and 29 controls. Genomic analysis of CDKN2A and CDK4 genes by PCR-SSCP analysis and sequencing and direct sequencing of MC1R were performed in all individuals. RESULTS: No functional mutations in CDKN2A or CDK4 were detected in the 62 individuals. Infrequent variants in polymorphic loci of CDKN2A gene were identified in 15 participants (24.2%) and 24/33 (72.8%) cases and 19/27 (70.4%) controls reported at least one infrequent variant in MC1R (P = 0.372). Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. CONCLUSIONS: These results suggest that in southern Brazilian population, CDKN2A or CDK4 germinal alterations may have a weaker influence than previously thought and environmental risk factors may play a central role in melanoma susceptibility. However, considering the tendency observed for gene MC1R, low-penetrance genes may be a relevant aetiological factor in southern Brazil with fair skin population and high sunlight exposure.


Subject(s)
Genetic Predisposition to Disease , Genetic Variation , Melanoma/genetics , Brazil , Case-Control Studies , Cyclin-Dependent Kinase 4/genetics , Female , Genes, p16 , Humans , Male , Receptor, Melanocortin, Type 1/genetics
7.
Rev Assoc Med Bras (1992) ; 45(1): 9-14, 1999.
Article in Portuguese | MEDLINE | ID: mdl-10436587

ABSTRACT

OBJECTIVES: To analise the etiological association of Hp and Idiopathic Chronic Urticaria (UCI). MATERIAL AND METHODS: Case control study. Eighteen patients over 18 years with clinical and laboratory evidences of ICU have been studied. Previous exposure to Hp was evaluated by serum IgG for Hp. The control group, with 18 patients were paired to age, sex, race and social economic conditions. In the patients positive to Hp oral doses of amoxacilin, metronidazole and omeoprazole were given in order to eradicate the agent. RESULTS: Twelve patients with UCI were positive to Hp (66.7%) and 6 were positive in the control group (33.3%). In the cases treated to eradicate Hp 6 had complete remission, 4 parcial remission and 2 had no improve. CONCLUSION: There are strong evidences that Hp is an etiological factor of Urticaria. In our study the difference of 33.4% in the previous exposure to Hp between cases and controls and the positive results with the therapeutics confirm the existence of this etiological association.


Subject(s)
Helicobacter pylori/isolation & purification , Urticaria/microbiology , Adult , Anti-Bacterial Agents/therapeutic use , Anti-Ulcer Agents/therapeutic use , Case-Control Studies , Chronic Disease , Female , Helicobacter Infections/drug therapy , Humans , Male , Metronidazole/therapeutic use , Middle Aged , Omeprazole/therapeutic use
8.
Rev. Assoc. Med. Bras. (1992) ; 45(1): 9-14, jan.-mar. 1999.
Article in Portuguese | LILACS | ID: lil-233202

ABSTRACT

Objetivo. Analisar a possível associaçao de nexo causal entre o Hp e Urticária Crônica Idiopática (UCI). Material e Métodos. Estudo de casos e controles. Foram estudados 18 pacientes, maiores de 18 anos, com quadro clínico e laboratorial de UCI. A exposiçao prévia ao Hp foi avaliada pela realizaçao de sorologia por radioimunoensaio (IgG para Helicobacter pylori). O grupo-centrole, composto por 18 integrantes, foi emparelhado para idade, sexo, raça e condiçoes sócio-econômicas. Nos pacientes soro-reagentes, instituiu-se tratamento para a erradicaçao do Hp, com doses orais de amoxacilina, metronidazol e omeprazol sendo o seguimento realizado por dois meses. Resultados. Entre os pacientes com UCI, 12 foram soro-reagentes para Hp (66,7 por cento) e entre os controles 6 foram soro-reagentes (33,3 por cento). Dos casos tratados para a erradicaçao do Hp 6 obtiveram remissao completa, 4 obtiveram remissao parcial e 2 nao obtiveram melhora alguma. Conclusoes. As evidências de que o Hp constitui-se em um dos fatores etiológicos dos quadros urticarianos vêm se fortalecendo e, em nosso trabalho, a diferença de quase 30 por cento na exposiçao prévia ao Hp entre casos e controles, somada com os resultados na terapêutica e no seguimento, corroboram as expectativas da existência deste nexo causal.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Helicobacter pylori/isolation & purification , Urticaria/microbiology , Anti-Infective Agents/therapeutic use , Anti-Ulcer Agents/therapeutic use , Case-Control Studies , Chronic Disease , Helicobacter Infections/drug therapy , Metronidazole/therapeutic use , Omeprazole/therapeutic use
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